| 6232 |
RPS27 |
ribosomal protein S27 (metallopanstimulin 1) |
1q21 |
|
- KOG1779:
40s ribosomal protein S27 [Translation, ribosomal structure and
biogenesis]
|
|
|
| 8682 |
PEA15 |
phosphoprotein enriched in astrocytes 15 |
1q21.1 |
|
|
|
|
| 4184 |
MCSP |
mitochondrial capsule selenoprotein |
1q21.3 |
|
|
|
|
| 25790 |
NESG1 |
|
1q22 |
|
|
|
|
| 23432 |
GPR161 |
G protein-coupled receptor 161 |
1q23.3 |
|
- KOG4220:
Muscarinic acetylcholine receptor [Signal transduction mechanisms]
- pfam00001:
7 transmembrane receptor (rhodopsin family)
|
|
|
| 9588 |
PRDX6 |
peroxiredoxin 6 |
1q24.2 |
|
- KOG0854:
Alkyl hydroperoxide reductase, thiol specific antioxidant and related
enzymes [Posttranslational modification, protein turnover, chaperones]
|
|
|
| 6045 |
RNF2 |
ring finger protein 2 |
1q25.3 |
|
- cd00162:
RING-finger (Really Interesting New Gene) domain, a specialized type of
Zn-finger of 40 to 60 residues that binds two atoms of zinc
- KOG0311:
Predicted E3 ubiquitin ligase [Posttranslational modification, protein
turnover, chaperones]
|
|
|
| 6635 |
SNRPE |
small nuclear ribonucleoprotein polypeptide E |
1q32 |
|
- KOG1774:
Small nuclear ribonucleoprotein E [RNA processing and modification]
|
|
|
| 10380 |
BPNT1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
1q42.11 |
- GO:0004437:
inositol/phosphatidylinositol phosphatase activity
|
- KOG3099:
Bisphosphate 3'-nucleotidase BPNT1/Inositol polyphosphate 1-phosphatase
[Nucleotide transport and metabolism]
|
|
|
| 3283 |
HSD3B1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid
delta-isomerase 1
|
1p13.1 |
|
- pfam01073:
3-beta hydroxysteroid dehydrogenase/isomerase family
|
|
|
| 10542 |
HBXIP |
hepatitis B virus x interacting protein |
1p13.2 |
|
|
|
|
| 271 |
AMPD2 |
adenosine monophosphate deaminase 2 (isoform L) |
1p13.3 |
|
- KOG1096:
Adenosine monophosphate deaminase [Nucleotide transport and metabolism]
|
|
|
| 10286 |
BCAS2 |
breast carcinoma amplified sequence 2 |
1p21-p13.3 |
|
- pfam05700:
Breast carcinoma amplified sequence 2 (BCAS2)
|
|
|
| 8634 |
RTCD1 |
RNA terminal phosphate cyclase domain 1 |
1p21.3 |
|
- KOG3980:
RNA 3'-terminal phosphate cyclase [RNA processing and modification]
|
|
|
| 676 |
BRDT |
bromodomain, testis-specific |
1p22.1 |
|
- KOG1474:
Transcription initiation factor TFIID, subunit BDF1 and related
bromodomain proteins [Transcription]
- smart00297:
bromo domain
|
|
|
| 1733 |
DIO1 |
deiodinase, iodothyronine, type I |
1p32-p33 |
|
|
|
|
| 2035 |
EPB41 |
erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) |
1p33-p32 |
|
|
|
|
| 10487 |
CAP1 |
CAP, adenylate cyclase-associated protein 1 (yeast) |
1p34.2 |
|
|
|
|
| 2709 |
GJB5 |
gap junction protein, beta 5 (connexin 31.1) |
1p35.1 |
|
|
|
|
| 10256 |
CNK1 |
|
1p35.3 |
|
- KOG1738:
Membrane-associated guanylate kinase-interacting protein/connector
enhancer of KSR-like [Nucleotide transport and metabolism]
- smart00233:
Pleckstrin homology domain
- smart00454:
Sterile alpha motif
|
|
|
| 832 |
CAPZB |
capping protein (actin filament) muscle Z-line, beta |
1p36.1 |
|
- pfam01115:
F-actin capping protein, beta subunit
|
|
|
| 1104 |
CHC1 |
chromosome condensation 1 |
1p36.1 |
|
- COG5184:
Alpha-tubulin suppressor and related RCC1 domain-containing proteins
[Cell division and chromosome partitioning / Cytoskeleton]
- KOG1428:
Inhibitor of type V adenylyl cyclases/Neuronal presynaptic protein
Highwire/PAM/RPM-1 [Signal transduction mechanisms]
- pfam00415:
Regulator of chromosome condensation (RCC1)
|
|
|
| 5293 |
PIK3CD |
phosphoinositide-3-kinase, catalytic, delta polypeptide |
1p36.2 |
|
- cd00142:
Phosphoinositide 3-kinase, catalytic domain
- KOG0904:
Phosphatidylinositol 3-kinase catalytic subunit (p110) [Signal
transduction mechanisms]
- pfam00792:
C2 domain
- pfam00794:
PI3-kinase family, ras-binding domain
- pfam02192:
PI3-kinase family, p85-binding domain
- smart00145:
Phosphoinositide 3-kinase family, accessory domain (PIK domain)
|
|
|
| 4681 |
NBL1 |
neuroblastoma, suppression of tumorigenicity 1 |
1p36.13-p36.11 |
|
|
|
|
| 23463 |
ICMT |
isoprenylcysteine carboxyl methyltransferase |
1p36.21 |
|
- KOG2628:
Farnesyl cysteine-carboxyl methyltransferase [Posttranslational
modification, protein turnover, chaperones]
|
|
|
| 1844 |
DUSP2 |
dual specificity phosphatase 2 |
2q11 |
|
- KOG1716:
Dual specificity phosphatase [Defense mechanisms]
- pfam00581:
Rhodanese-like domain
|
|
|
| 10865 |
MRF-1 |
|
2q11.2 |
|
- pfam01388:
ARID/BRIGHT DNA binding domain. This domain is know as ARID for AT-Rich
Interaction Domain, and also known as the BRIGHT domain
- smart00501:
ARID (A/T-rich interaction domain) domain
|
|
|
| 5903 |
RANBP2 |
RAN binding protein 2 |
2q12.3 |
|
- cd00189:
Tetratricopeptide repeat domain
- KOG0864:
Ran-binding protein RANBP1 and related RanBD domain proteins
[Intracellular trafficking, secretion, and vesicular transport]
- KOG0865:
Cyclophilin type peptidyl-prolyl cis-trans isomerase [Posttranslational
modification, protein turnover, chaperones]
- KOG0866:
Ran-binding protein RANBP3 [Intracellular trafficking, secretion, and
vesicular transport]
- KOG4198:
RNA-binding Ran Zn-finger protein and related proteins [General function
prediction only]
- KOG4849:
mRNA cleavage factor I subunit/CPSF subunit [RNA processing and
modification]
- pfam00638:
RanBP1 domain
- pfam00641:
Zn-finger in Ran binding protein and others
|
|
|
| 1281 |
COL3A1 |
collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal
dominant)
|
2q31 |
|
- pfam00093:
von Willebrand factor type C domain
- smart00038:
Fibrillar collagens C-terminal domain
|
|
|
| 9541 |
CIR |
|
2q31.1 |
|
- KOG3794:
CBF1-interacting corepressor CIR and related proteins [Transcription]
|
|
|
| 10170 |
DHRS9 |
dehydrogenase/reductase (SDR family) member 9 |
2q31.1 |
|
- KOG1610:
Corticosteroid 11-beta-dehydrogenase and related short chain-type
dehydrogenases [Secondary metabolites biosynthesis, transport and
catabolism, General function prediction only]
|
|
|
| 3628 |
INPP1 |
inositol polyphosphate-1-phosphatase |
2q32 |
|
- KOG3099:
Bisphosphate 3'-nucleotidase BPNT1/Inositol polyphosphate 1-phosphatase
[Nucleotide transport and metabolism]
|
|
|
| 23671 |
TMEFF2 |
transmembrane protein with EGF-like and two follistatin-like domains
2
|
2q32.3 |
|
- cd00104:
Kazal type serine protease inhibitors and follistatin-like domains
- KOG1219:
Uncharacterized conserved protein, contains laminin, cadherin and EGF
domains [Signal transduction mechanisms]
|
|
|
| 8941 |
CDK5R2 |
cyclin-dependent kinase 5, regulatory subunit 2 (p39) |
2q35 |
- GO:0000079:
regulation of CDK activity
- GO:0016533:
cyclin-dependent protein kinase 5 activator complex
- GO:0016534:
cyclin-dependent protein kinase 5 activator activity
|
- pfam03261:
Cyclin-dependent kinase 5 activator protein
|
|
|
| 9125 |
RQCD1 |
RCD1 required for cell differentiation1 homolog (S. pombe) |
2q35 |
|
- pfam04078:
Cell differentiation family, Rcd1-like
|
|
|
| 3069 |
HDLBP |
high density lipoprotein binding protein (vigilin) |
2q37 |
|
|
|
|
| 1639 |
DCTN1 |
dynactin 1 (p150, glued homolog, Drosophila) |
2p13 |
|
- COG4942:
Membrane-bound metallopeptidase [Cell division and chromosome
partitioning]
- KOG0971:
Microtubule-associated protein dynactin DCTN1/Glued [Cell cycle control,
cell division, chromosome partitioning, Cytoskeleton]
- pfam01302:
CAP-Gly domain
|
|
|
| 10575 |
CCT4 |
chaperonin containing TCP1, subunit 4 (delta) |
2p15 |
|
- KOG0358:
Chaperonin complex component, TCP-1 delta subunit (CCT4)
[Posttranslational modification, protein turnover, chaperones]
- pfam00118:
TCP-1/cpn60 chaperonin family
|
|
|
| 30845 |
EHD3 |
EH-domain containing 3 |
2p21 |
|
- KOG1954:
Endocytosis/signaling protein EHD1 [Signal transduction mechanisms,
Intracellular trafficking, secretion, and vesicular transport]
- smart00027:
Eps15 homology domain
|
|
|
| 1058 |
CENPA |
centromere protein A, 17kDa |
2p24-p21 |
|
|
|
|
| 6241 |
RRM2 |
ribonucleotide reductase M2 polypeptide |
2p25-p24 |
|
- KOG1567:
Ribonucleotide reductase, beta subunit [Nucleotide transport and
metabolism]
|
|
|
| 11259 |
DOC1 |
|
3q12.3 |
|
- KOG0161:
Myosin class II heavy chain [Cytoskeleton]
- KOG0250:
DNA repair protein RAD18 (SMC family protein) [Replication,
recombination and repair]
- KOG0996:
Structural maintenance of chromosome protein 4 (chromosome condensation
complex Condensin, subunit C) [Chromatin structure and dynamics, Cell
cycle control, cell division, chromosome partitioning]
- KOG1103:
Predicted coiled-coil protein [Function unknown]
|
|
|
| 26984 |
SEC22L2 |
SEC22 vesicle trafficking protein-like 2 (S. cerevisiae) |
3q21.1 |
|
- KOG0862:
Synaptobrevin/VAMP-like protein SEC22 [Intracellular trafficking,
secretion, and vesicular transport]
|
|
|
| 13 |
AADAC |
arylacetamide deacetylase (esterase) |
3q21.3-q25.2 |
|
- COG0657:
Esterase/lipase [Lipid metabolism]
- KOG1515:
Arylacetamide deacetylase [Defense mechanisms]
|
|
|
| 2624 |
GATA2 |
GATA binding protein 2 |
3q21.3 |
|
- cd00202:
Zinc finger DNA binding domain
|
|
|
| 5291 |
PIK3CB |
phosphoinositide-3-kinase, catalytic, beta polypeptide |
3q22.3 |
|
- cd00142:
Phosphoinositide 3-kinase, catalytic domain
- KOG0904:
Phosphatidylinositol 3-kinase catalytic subunit (p110) [Signal
transduction mechanisms]
- pfam00613:
Phosphoinositide 3-kinase family, accessory domain (PIK domain)
- pfam00792:
C2 domain
- pfam00794:
PI3-kinase family, ras-binding domain
- smart00143:
PI3-kinase family, p85-binding domain
|
|
|
| 5918 |
RARRES1 |
retinoic acid receptor responder (tazarotene induced) 1 |
3q25.32 |
|
|
|
|
| 11235 |
PDCD10 |
programmed cell death 10 |
3q26.2 |
|
- KOG4025:
Putative apoptosis related protein [Function unknown]
|
|
|
| 27074 |
LAMP3 |
lysosomal-associated membrane protein 3 |
3q26.3-q27 |
|
- KOG4818:
Lysosomal-associated membrane protein [General function prediction only]
|
|
|
| 4711 |
NDUFB5 |
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa |
3q27.1 |
|
- KOG4632:
NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit [Energy production
and conversion]
|
|
|
| 10195 |
ALG3 |
asparagine-linked glycosylation 3 homolog (yeast,
alpha-1,3-mannosyltransferase)
|
3q27.3 |
|
- KOG2762:
Mannosyltransferase [Carbohydrate transport and metabolism]
|
|
|
| 622 |
BDH |
3-hydroxybutyrate dehydrogenase (heart, mitochondrial) |
3q29 |
|
- KOG1610:
Corticosteroid 11-beta-dehydrogenase and related short chain-type
dehydrogenases [Secondary metabolites biosynthesis, transport and
catabolism, General function prediction only]
|
|
|
| 7086 |
TKT |
transketolase (Wernicke-Korsakoff syndrome) |
3p14.3 |
|
- COG3958:
Transketolase, C-terminal subunit [Carbohydrate transport and
metabolism]
- KOG0523:
Transketolase [Carbohydrate transport and metabolism]
- pfam00456:
Transketolase, thiamine diphosphate binding domain
|
|
|
| 7318 |
UBE1L |
ubiquitin-activating enzyme E1-like |
3p21 |
|
- KOG2012:
Ubiquitin activating enzyme UBA1 [Posttranslational modification,
protein turnover, chaperones]
- pfam00899:
ThiF family
- pfam02134:
Repeat in ubiquitin-activating (UBA) protein
|
|
|
| 7873 |
ARMET |
arginine-rich, mutated in early stage tumors |
3p21.1 |
|
- KOG4154:
Arginine-rich protein [General function prediction only]
|
|
|
| 275 |
AMT |
aminomethyltransferase (glycine cleavage system protein T) |
3p21.2-p21.1 |
|
- KOG2770:
Aminomethyl transferase [Amino acid transport and metabolism]
|
|
|
| 5859 |
QARS |
glutaminyl-tRNA synthetase |
3p21.3-p21.1 |
|
- KOG1148:
Glutaminyl-tRNA synthetase [Translation, ribosomal structure and
biogenesis]
- pfam00749:
tRNA synthetases class I (E and Q), catalytic domain
- pfam03950:
tRNA synthetases class I (E and Q), anti-codon binding domain
- pfam04557:
Glutaminyl-tRNA synthetase, non-specific RNA binding region part 2
- pfam04558:
Glutaminyl-tRNA synthetase, non-specific RNA binding region part 1
|
|
|
| 51364 |
ZMYND10 |
zinc finger, MYND domain containing 10 |
3p21.3 |
|
|
|
|
| 25827 |
FBXL2 |
F-box and leucine-rich repeat protein 2 |
3p22.3 |
|
- KOG1947:
Leucine rich repeat proteins, some proteins contain F-box [General
function prediction only]
- KOG4341:
F-box protein containing LRR [General function prediction only]
- smart00256:
A Receptor for Ubiquitination Targets
|
|
|
| 8916 |
HERC3 |
hect domain and RLD 3 |
4q21 |
|
- cd00078:
HECT domain
- COG5184:
Alpha-tubulin suppressor and related RCC1 domain-containing proteins
[Cell division and chromosome partitioning / Cytoskeleton]
- KOG0941:
E3 ubiquitin protein ligase [Posttranslational modification, protein
turnover, chaperones]
|
|
|
| 10983 |
CCNI |
cyclin I |
4q21.22 |
|
- KOG0653:
Cyclin B and related kinase-activating proteins [Cell cycle control,
cell division, chromosome partitioning]
|
|
|
| 890 |
CCNA2 |
cyclin A2 |
4q25-q31 |
|
- KOG0654:
G2/Mitotic-specific cyclin A [Cell cycle control, cell division,
chromosome partitioning]
|
|
|
| 4085 |
MAD2L1 |
MAD2 mitotic arrest deficient-like 1 (yeast) |
4q27 |
|
- KOG3285:
Spindle assembly checkpoint protein [Cell cycle control, cell division,
chromosome partitioning, Cytoskeleton]
|
|
|
| 2266 |
FGG |
fibrinogen, gamma polypeptide |
4q28 |
|
- pfam00147:
Fibrinogen beta and gamma chains, C-terminal globular domain
|
|
|
| 5860 |
QDPR |
quinoid dihydropteridine reductase |
4p15.31 |
|
- KOG4022:
Dihydropteridine reductase DHPR/QDPR [Amino acid transport and
metabolism]
|
|
|
| 3001 |
GZMA |
granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine
esterase 3)
|
5q11-q12 |
|
- cd00190:
Trypsin-like serine protease
|
|
|
| 84340 |
EFG2 |
|
5q13 |
|
- KOG0464:
Elongation factor G [Translation, ribosomal structure and biogenesis]
- pfam00009:
Elongation factor Tu GTP binding domain
- pfam00679:
Elongation factor G C-terminus
- pfam03144:
Elongation factor Tu domain 2
- pfam03764:
Elongation factor G, domain IV
|
|
|
| 9315 |
C5orf13 |
chromosome 5 open reading frame 13 |
5q22.2 |
|
|
|
|
| 7416 |
VDAC1 |
voltage-dependent anion channel 1 |
5q31 |
|
- KOG3126:
Porin/voltage-dependent anion-selective channel protein [Inorganic ion
transport and metabolism]
|
|
|
| 2676 |
GFRA3 |
GDNF family receptor alpha 3 |
5q31.1-q31.3 |
|
|
|
|
| 51491 |
HSPC111 |
|
5q35.3 |
|
- KOG4706:
Uncharacterized conserved protein [Function unknown]
|
|
|
| 5019 |
OXCT |
3-oxoacid CoA transferase |
5p13 |
|
- COG1788:
Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid
metabolism]
- COG2057:
Acyl CoA:acetate/3-ketoacid CoA transferase, beta subunit [Lipid
metabolism]
- KOG3822:
Succinyl-CoA:alpha-ketoacid-CoA transferase [Energy production and
conversion]
|
|
|
| 6715 |
SRD5A1 |
steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid
delta 4-dehydrogenase alpha 1)
|
5p15 |
|
- KOG1638:
Steroid reductase [Lipid transport and metabolism]
|
|
|
| 11044 |
POLS |
polymerase (DNA directed) sigma |
5p15 |
|
- KOG1906:
DNA polymerase sigma [Replication, recombination and repair]
- KOG2277:
S-M checkpoint control protein CID1 and related nucleotidyltransferases
[Cell cycle control, cell division, chromosome partitioning]
|
|
|
| 23595 |
ORC3L |
origin recognition complex, subunit 3-like (yeast) |
6q14.3-q16.1 |
|
- KOG2538:
Origin recognition complex, subunit 3 [Replication, recombination and
repair]
|
|
|
| 5134 |
PDCD2 |
programmed cell death 2 |
6q27 |
|
- KOG2061:
Uncharacterized MYND Zn-finger protein [General function prediction
only]
- pfam01753:
MYND finger
- pfam04194:
Programmed cell death protein 2, C-terminal putative domain
|
|
|
| 3303 |
HSPA1A |
heat shock 70kDa protein 1A |
6p21.3 |
|
- KOG0100:
Molecular chaperones GRP78/BiP/KAR2, HSP70 superfamily
[Posttranslational modification, protein turnover, chaperones]
|
|
|
| 3833 |
KIFC1 |
kinesin family member C1 |
6p21.3 |
|
- COG1196:
Chromosome segregation ATPases [Cell division and chromosome
partitioning]
- COG4372:
COG4372, Uncharacterized protein conserved in bacteria with the
myosin-like domain [Function unknown]
- COG5059:
COG5059, KIP1, Kinesin-like protein [Cytoskeleton]
- pfam00225:
Kinesin motor domain
- smart00129:
Kinesin motor, catalytic domain. ATPase. Microtubule-dependent molecular
motors that play important roles in intracellular transport of
organelles and in cell division
|
|
|
| 4758 |
NEU1 |
sialidase 1 (lysosomal sialidase) |
6p21.3 |
|
- cd00260:
Sialidases or neuraminidases function to bind and hydrolyze terminal
sialic acid residues from various glycoconjugates as well as playing
roles in pathogenesis, bacterial nutrition and cellular interactions
|
|
|
| 7923 |
HSD17B8 |
hydroxysteroid (17-beta) dehydrogenase 8 |
6p21.3 |
|
- KOG1200:
Mitochondrial/plastidial beta-ketoacyl-ACP reductase [Lipid transport
and metabolism]
|
|
|
| 80741 |
LY6G5C |
lymphocyte antigen 6 complex, locus G5C |
6p21.31 |
|
|
|
|
| 51473 |
DCDC2 |
doublecortin domain containing 2 |
6p22.1 |
|
- KOG3757:
Microtubule assembly protein Doublecortin and related proteins, contain
DCX domain [Cell cycle control, cell division, chromosome partitioning,
Cytoskeleton]
|
|
|
| 7915 |
ALDH5A1 |
aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde
dehydrogenase)
|
6p22.2-p22.3 |
|
- KOG2451:
Aldehyde dehydrogenase [Energy production and conversion]
|
|
|
| 26240 |
D6S2654E |
DNA segment on chromosome 6(unique) 2654 expressed sequence |
6p25-pter |
|
- KOG2894:
Uncharacterized conserved protein XAP-5 [Function unknown]
|
|
|
| 7532 |
YWHAG |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation
protein, gamma polypeptide
|
7q11.23 |
|
|
|
|
| 22932 |
POMZP3 |
POM (POM121 homolog, rat) and ZP3 fusion |
7q11.23 |
|
|
|
|
| 5189 |
PEX1 |
peroxisome biogenesis factor 1 |
7q21-q22 |
|
- COG1222:
ATP-dependent 26S proteasome regulatory subunit [Posttranslational
modification, protein turnover, chaperones]
- KOG0735:
AAA+-type ATPase [Posttranslational modification, protein turnover,
chaperones]
- pfam00004:
ATPase family associated with various cellular activities (AAA)
|
|
|
| 5446 |
PON3 |
paraoxonase 3 |
7q21.3 |
|
- COG3386:
Gluconolactonase [Carbohydrate transport and metabolism]
- pfam01731:
Arylesterase
|
|
|
| 11062 |
PP35 |
|
7q22-q31 |
|
- KOG2335:
tRNA-dihydrouridine synthase [Translation, ribosomal structure and
biogenesis]
|
|
|
| 1278 |
COL1A2 |
collagen, type I, alpha 2 |
7q22.1 |
|
- KOG3546:
Collagens (type XV) [Extracellular structures]
- pfam01391:
Collagen triple helix repeat (20 copies)
- smart00038:
Fibrillar collagens C-terminal domain
|
|
|
| 7982 |
ST7 |
suppression of tumorigenicity 7 |
7q31.1-q31.3 |
|
|
|
|
| 1357 |
CPA1 |
carboxypeptidase A1 (pancreatic) |
7q32 |
|
- KOG2650:
Zinc carboxypeptidase [Function unknown]
|
|
|
| 4232 |
MEST |
mesoderm specific transcript homolog (mouse) |
7q32 |
|
- KOG4178:
Soluble epoxide hydrolase [Lipid transport and metabolism]
|
|
|
| 10320 |
ZNFN1A1 |
zinc finger protein, subfamily 1A, 1 (Ikaros) |
7p13-p11.1 |
|
- KOG1074:
Transcriptional repressor SALM [Transcription]
- KOG2462:
C2H2-type Zn-finger protein [Transcription]
|
|
|
| 51619 |
LOC51619 |
|
7p13 |
|
- KOG0417:
Ubiquitin-protein ligase [Posttranslational modification, protein
turnover, chaperones]
|
|
|
| 11033 |
CENTA1 |
centaurin, alpha 1 |
7p22.3 |
|
- KOG0703:
Predicted GTPase-activating protein [Signal transduction mechanisms]
- KOG1117:
Rho- and Arf-GTPase activating protein ARAP3 [Signal transduction
mechanisms, Cytoskeleton]
- pfam01412:
Putative GTPase activating protein for Arf
- smart00233:
Pleckstrin homology domain
|
|
|
| 10434 |
LYPLA1 |
lysophospholipase I |
8q11.23 |
|
|
|
|
| 8836 |
GGH |
gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl
hydrolase)
|
8q12.2 |
|
- COG2071:
Predicted glutamine amidotransferases [General function prediction only]
- KOG1559:
Gamma-glutamyl hydrolase [Coenzyme transport and metabolism]
|
|
|
| 761 |
CA3 |
carbonic anhydrase III, muscle specific |
8q13-q22 |
|
- pfam00194:
Eukaryotic-type carbonic anhydrase
|
|
|
| 862 |
CBFA2T1 |
core-binding factor, runt domain, alpha subunit 2; translocated to, 1;
cyclin D-related
|
8q22 |
|
- COG1390:
Archaeal/vacuolar-type H+-ATPase subunit E [Energy production and
conversion]
- pfam01753:
MYND finger
- smart00549:
TAF homology
|
|
|
| 1807 |
DPYS |
dihydropyrimidinase |
8q22 |
|
- COG0044:
Dihydroorotase and related cyclic amidohydrolases [Nucleotide transport
and metabolism]
- KOG2584:
Dihydroorotase and related enzymes [Nucleotide transport and metabolism]
|
|
|
| 3646 |
EIF3S6 |
eukaryotic translation initiation factor 3, subunit 6 48kDa |
8q22-q23 |
|
- KOG2758:
Translation initiation factor 3, subunit e (eIF-3e) [Translation,
ribosomal structure and biogenesis]
|
|
|
| 5747 |
PTK2 |
PTK2 protein tyrosine kinase 2 |
8q24-qter |
|
- cd00192:
Tyrosine kinase, catalytic domain
- KOG4257:
Focal adhesion tyrosine kinase FAK, contains FERM domain [Signal
transduction mechanisms]
- pfam03623:
Focal adhesion targeting region
- smart00295:
Band 4
|
|
|
| 4796 |
NFKBIL2 |
nuclear factor of kappa light polypeptide gene enhancer in B-cells
inhibitor-like 2
|
8q24.3 |
|
- cd00116:
Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily
- cd00189:
Tetratricopeptide repeat domain
- cd00204:
ankyrin repeats
- KOG4308:
LRR-containing protein [Function unknown]
|
|
|
| 7264 |
TSTA3 |
tissue specific transplantation antigen P35B |
8q24.3 |
|
- KOG1431:
GDP-L-fucose synthetase [Carbohydrate transport and metabolism,
Posttranslational modification, protein turnover, chaperones]
|
|
|
| 8749 |
ADAM18 |
a disintegrin and metalloproteinase domain 18 |
8p11.22 |
|
- KOG3607:
Meltrins, fertilins and related Zn-dependent metalloproteinases of the
ADAMs family [Posttranslational modification, protein turnover,
chaperones]
|
|
|
| 1846 |
DUSP4 |
dual specificity phosphatase 4 |
8p12-p11 |
|
- KOG1716:
Dual specificity phosphatase [Defense mechanisms]
- smart00450:
Rhodanese Homology Domain
|
|
|
| 3620 |
INDO |
indoleamine-pyrrole 2,3 dioxygenase |
8p12-p11 |
|
|
|
|
| 9413 |
C9orf61 |
chromosome 9 open reading frame 61 |
9q13-q21 |
|
|
|
|
| 23670 |
TMEM2 |
transmembrane protein 2 |
9q13-q21 |
|
|
|
|
| 203 |
AK1 |
adenylate kinase 1 |
9q34.1 |
|
- KOG3079:
Uridylate kinase/adenylate kinase [Nucleotide transport and metabolism]
- KOG3347:
Predicted nucleotide kinase/nuclear protein involved oxidative stress
response [Nucleotide transport and metabolism]
|
|
|
| 6837 |
SURF5 |
surfeit 5 |
9q34.2 |
|
- KOG3304:
Surfeit family protein 5 [General function prediction only]
|
|
|
| 8636 |
SSNA1 |
Sjogren's syndrome nuclear autoantigen 1 |
9q34.3 |
|
- COG2433:
Uncharacterized conserved protein [Function unknown]
|
|
|
| 10439 |
OLFM1 |
olfactomedin 1 |
9q34.3 |
|
- COG0419:
ATPase involved in DNA repair [DNA replication, recombination, and
repair]
- KOG1003:
Actin filament-coating protein tropomyosin [Cytoskeleton]
- KOG3545:
Olfactomedin and related extracellular matrix glycoproteins
[Extracellular structures]
- smart00284:
Olfactomedin-like domains
|
|
|
| 883 |
CCBL1 |
cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K,
kyneurenine aminotransferase)
|
9q34.13 |
|
- KOG0257:
Kynurenine aminotransferase, glutamine transaminase K [Amino acid
transport and metabolism]
|
|
|
| 30968 |
STOML2 |
stomatin (EPB72)-like 2 |
9p13.1 |
|
- KOG2620:
Prohibitins and stomatins of the PID superfamily [Energy production and
conversion]
|
|
|
| 7169 |
TPM2 |
tropomyosin 2 (beta) |
9p13.2-p13.1 |
|
|
|
|
| 3995 |
FADS3 |
fatty acid desaturase 3 |
11q12-q13.1 |
|
- KOG4232:
Delta 6-fatty acid desaturase/delta-8 sphingolipid desaturase [Lipid
transport and metabolism]
- pfam00173:
Heme/Steroid binding domain
- pfam00487:
Fatty acid desaturase
|
|
|
| 9246 |
UBE2L6 |
ubiquitin-conjugating enzyme E2L 6 |
11q12 |
|
- KOG0422:
Ubiquitin-protein ligase [Posttranslational modification, protein
turnover, chaperones]
|
|
|
| 222 |
ALDH3B2 |
aldehyde dehydrogenase 3 family, member B2 |
11q13 |
|
- KOG2456:
Aldehyde dehydrogenase [Energy production and conversion]
|
|
|
| 4926 |
NUMA1 |
nuclear mitotic apparatus protein 1 |
11q13 |
|
- COG1196:
Chromosome segregation ATPases [Cell division and chromosome
partitioning]
|
|
|
| 5936 |
RBM4 |
RNA binding motif protein 4 |
11q13 |
|
- KOG0109:
RNA-binding protein LARK, contains RRM and retroviral-type Zn-finger
domains [RNA processing and modification, General function prediction
only]
- pfam00098:
Zinc knuckle
- smart00360:
RNA recognition motif
|
|
|
| 23649 |
POLA2 |
|
11q13.1 |
|
- KOG1625:
DNA polymerase alpha-primase complex, polymerase-associated subunit B
[Replication, recombination and repair]
|
|
|
| 2350 |
FOLR2 |
folate receptor 2 (fetal) |
11q13.3-q13.5 |
|
|
|
|
| 10714 |
POLD3 |
polymerase (DNA-directed), delta 3, accessory subunit |
11q14 |
|
|
|
|
| 84233 |
DKFZp586C1924 |
|
11q14.1 |
|
|
|
|
| 4322 |
MMP13 |
matrix metalloproteinase 13 (collagenase 3) |
11q22.3 |
|
- cd00094:
Hemopexin-like repeats
- KOG1565:
Gelatinase A and related matrix metalloproteases [Posttranslational
modification, protein turnover, chaperones, Extracellular structures]
- pfam00413:
Matrixin
- pfam03933:
Matrix metalloprotease, N-terminal domain
|
|
|
| 834 |
CASP1 |
caspase 1, apoptosis-related cysteine protease (interleukin 1, beta,
convertase)
|
11q23 |
|
- pfam00619:
Caspase recruitment domain
- smart00115:
Caspase, interleukin-1 beta converting enzyme (ICE) homologues
|
|
|
| 3636 |
INPPL1 |
inositol polyphosphate phosphatase-like 1 |
11q23 |
|
- KOG4384:
Uncharacterized SAM domain protein [General function prediction only]
- smart00128:
Inositol polyphosphate phosphatase, catalytic domain homologues
- smart00252:
Src homology 2 domains
- smart00454:
Sterile alpha motif
|
|
|
| 1643 |
DDB2 |
damage-specific DNA binding protein 2, 48kDa |
11p12-p11 |
|
- cd00200:
WD40 domain, found in a number of eukaryotic proteins that cover a wide
variety of functions including adaptor/regulatory modules in signal
transduction, pre-mRNA processing and cytoskeleton assembly
- KOG4328:
WD40 protein [Function unknown]
|
|
|
| 1509 |
CTSD |
cathepsin D (lysosomal aspartyl protease) |
11p15.5 |
|
|
|
|
| 6150 |
MRPL23 |
mitochondrial ribosomal protein L23 |
11p15.5-p15.4 |
|
- KOG4089:
Predicted mitochondrial ribosomal protein L23 [Translation, ribosomal
structure and biogenesis]
|
|
|
| 3855 |
KRT7 |
keratin 7 |
12q12-q13 |
|
|
|
|
| 51474 |
EPLIN |
|
12q13 |
|
- KOG1700:
Regulatory protein MLP and related LIM proteins [Signal transduction
mechanisms, Cytoskeleton]
|
|
|
| 420 |
DO |
Dombrock blood group |
12q13.2-q13.3 |
|
- pfam01129:
NAD:arginine ADP-ribosyltransferase
|
|
|
| 4141 |
MARS |
methionine-tRNA synthetase |
12q13.2 |
|
- COG0143:
Methionyl-tRNA synthetase [Translation, ribosomal structure and
biogenesis]
- KOG0867:
Glutathione S-transferase [Posttranslational modification, protein
turnover, chaperones]
- KOG1247:
Methionyl-tRNA synthetase [Translation, ribosomal structure and
biogenesis]
- pfam00458:
WHEP-TRS domain
|
|
|
| 1280 |
COL2A1 |
collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal
dysplasia, congenital)
|
12q13.11-q13.2 |
|
- KOG3546:
Collagens (type XV) [Extracellular structures]
- pfam00093:
von Willebrand factor type C domain
- smart00038:
Fibrillar collagens C-terminal domain
|
|
|
| 9958 |
USP15 |
ubiquitin specific protease 15 |
12q14 |
|
- KOG1870:
Ubiquitin C-terminal hydrolase [Posttranslational modification, protein
turnover, chaperones]
- pfam00443:
Ubiquitin carboxyl-terminal hydrolase
- smart00695:
Domain in ubiquitin-specific proteases
|
|
|
| 1610 |
DAO |
D-amino-acid oxidase |
12q24 |
|
- KOG3923:
D-aspartate oxidase [Amino acid transport and metabolism]
|
|
|
| 4940 |
OAS3 |
2'-5'-oligoadenylate synthetase 3, 100kDa |
12q24.2 |
|
- pfam01909:
Nucleotidyltransferase domain. Members of this family belong to a large
family of nucleotidyltransferases. This family includes kanamycin
nucleotidyltransferase (KNTase) which is a plasmid-coded enzyme
responsible for some types of bacterial re
|
|
|
| 4326 |
MMP17 |
matrix metalloproteinase 17 (membrane-inserted) |
12q24.3 |
|
- cd00094:
Hemopexin-like repeats
- KOG1565:
Gelatinase A and related matrix metalloproteases [Posttranslational
modification, protein turnover, chaperones, Extracellular structures]
- pfam00413:
Matrixin
- pfam03933:
Matrix metalloprotease, N-terminal domain
|
|
|
| 5426 |
POLE |
polymerase (DNA directed), epsilon |
12q24.3 |
|
- KOG1798:
DNA polymerase epsilon, catalytic subunit A [Replication, recombination
and repair]
- pfam00136:
DNA polymerase family B
- pfam03104:
DNA polymerase family B, exonuclease domain
- smart00486:
POLBc domain
|
|
|
| 605 |
BCL7A |
B-cell CLL/lymphoma 7A |
12q24.13 |
|
- KOG4095:
Uncharacterized conserved protein (tumor-specific protein BCL7 in
humans) [General function prediction only]
|
|
|
| 1663 |
DDX11 |
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase
homolog, S. cerevisiae)
|
12p11 |
|
- KOG1133:
Helicase of the DEAD superfamily [Replication, recombination and repair]
- smart00488:
DEAD-like helicases superfamily
- smart00491:
helicase superfamily c-terminal domain
|
|
|
| 1108 |
CHD4 |
chromodomain helicase DNA binding protein 4 |
12p13 |
|
- KOG0383:
Predicted helicase [General function prediction only]
- KOG0384:
Chromodomain-helicase DNA-binding protein [Transcription]
- KOG0390:
DNA repair protein, SNF2 family [Replication, recombination and repair]
- pfam00628:
PHD-finger
- smart00298:
Chromatin organization modifier domain
|
|
|
| 8302 |
KLRC4 |
killer cell lectin-like receptor subfamily C, member 4 |
12p13.2-p12.3 |
|
|
|
|
| 5412 |
UBL3 |
ubiquitin-like 3 |
13q12-q13 |
|
|
|
|
| 10186 |
LHFP |
lipoma HMGIC fusion partner |
13q12 |
|
- KOG4026:
Uncharacterized conserved protein [Function unknown]
|
|
|
| 8900 |
CCNA1 |
cyclin A1 |
13q12.3-q13 |
|
- KOG0654:
G2/Mitotic-specific cyclin A [Cell cycle control, cell division,
chromosome partitioning]
|
|
|
| 1638 |
DCT |
dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related
protein 2)
|
13q32 |
|
- pfam00264:
Common central domain of tyrosinase
|
|
|
| 8660 |
IRS2 |
insulin receptor substrate 2 |
13q34 |
|
|
|
|
| 5720 |
PSME1 |
proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) |
14q11.2 |
|
- KOG4470:
Proteasome activator subunit [Posttranslational modification, protein
turnover, chaperones]
|
|
|
| 4522 |
MTHFD1 |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent),
methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate
synthetase
|
14q24 |
|
- COG0190:
5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate
cyclohydrolase [Coenzyme metabolism]
- KOG4230:
C1-tetrahydrofolate synthase [Coenzyme transport and metabolism]
- pfam01268:
Formate--tetrahydrofolate ligase
|
|
|
| 8681 |
PLA2G4B |
phospholipase A2, group IVB (cytosolic) |
15q11.2-q21.3 |
- GO:0004627:
calcium-dependent cytosolic phospholipase A2 activity
- GO:0006644:
phospholipid metabolism
|
- KOG1028:
Ca2+-dependent phospholipid-binding protein Synaptotagmin, required for
synaptic vesicle and secretory granule exocytosis [Signal transduction
mechanisms, Intracellular trafficking, secretion, and vesicular
transport]
- KOG1325:
Lysophospholipase [Lipid transport and metabolism]
- KOG2508:
Predicted phospholipase [Lipid transport and metabolism]
|
|
|
| 4308 |
TRPM1 |
transient receptor potential cation channel, subfamily M, member 1 |
15q13-q14 |
|
- KOG3614:
Ca2+/Mg2+-permeable cation channels (LTRPC family) [Inorganic ion
transport and metabolism, Signal transduction mechanisms]
- pfam00520:
Ion transport protein
|
|
|
| 6263 |
RYR3 |
ryanodine receptor 3 |
15q14-q15 |
|
- pfam00622:
SPRY domain. SPRY Domain is named from SPla and the RYanodine Receptor.
Domain of unknown function. Distant homologues are domains in
butyrophilin/marenostrin/pyrin homologues
- pfam01365:
RIH domain. The RIH (RyR and IP3R Homology) domain is an extracellular
domain from two types of calcium channels. This region is found in the
ryanodine receptor and the inositol-1,4,5- trisphosphate receptor. This
domain may form a binding site
- pfam02026:
RyR domain. This domain is called RyR for Ryanodine receptor. The domain
is found in four copies in the ryanodine receptor. The function of this
domain is unknown
- pfam02815:
MIR domain. The MIR (protein mannosyltransferase, IP3R and RyR) domain
is a small domain that may have a ligand transferase function
- smart00449:
Domain in SPla and the RYanodine Receptor.
- smart00472:
Domain in ryanodine and inositol trisphosphate receptors and protein
O-mannosyltransferases
|
|
|
| 825 |
CAPN3 |
calpain 3, (p94) |
15q15.1-q21.1 |
|
- KOG0037:
Ca2+-binding protein, EF-Hand protein superfamily [Signal transduction
mechanisms]
- KOG0045:
Cytosolic Ca2+-dependent cysteine protease (calpain), large subunit
(EF-Hand protein superfamily) [Posttranslational modification, protein
turnover, chaperones, Signal transduction mechanisms]
- pfam01067:
Calpain large subunit, domain III
|
|
|
| 6938 |
TCF12 |
transcription factor 12 (HTF4, helix-loop-helix transcription factors
4)
|
15q21 |
|
- KOG3910:
Helix loop helix transcription factor [Transcription]
- pfam00010:
Helix-loop-helix DNA-binding domain
|
|
|
| 9236 |
CPR8 |
|
15q21.1 |
|
- pfam02987:
Late embryogenesis abundant protein
|
|
|
| 8925 |
HERC1 |
hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and
RCC1 (CHC1)-like domain (RLD) 1
|
15q22 |
|
- COG2319:
FOG: WD40 repeat [General function prediction only]
- COG5184:
COG5184, ATS1, Alpha-tubulin suppressor and related RCC1
domain-containing proteins [Cell division and chromosome partitioning /
Cytoskeleton]
- smart00119:
Domain Homologous to E6-AP Carboxyl Terminus with
- smart00449:
Domain in SPla and the RYanodine Receptor.
|
|
|
| 4947 |
OAZ2 |
ornithine decarboxylase antizyme 2 |
15q22.1 |
|
- KOG4387:
Ornithine decarboxylase antizyme [Amino acid transport and metabolism]
|
|
|
| 9399 |
STOML1 |
stomatin (EPB72)-like 1 |
15q24-q25 |
|
- KOG2621:
Prohibitins and stomatins of the PID superfamily [Energy production and
conversion]
- KOG4170:
2-enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase/Peroxisomal
3-ketoacyl-CoA-thiolase, sterol-binding domain and related enzymes
[Lipid transport and metabolism]
- pfam01145:
SPFH domain / Band 7 family
|
|
|
| 5685 |
PSMA4 |
proteasome (prosome, macropain) subunit, alpha type, 4 |
15q24.1 |
|
- KOG0178:
20S proteasome, regulatory subunit alpha type PSMA4/PRE9
[Posttranslational modification, protein turnover, chaperones]
|
|
|
| 5046 |
PACE4 |
paired basic amino acid cleaving system 4 |
15q26 |
|
- KOG3525:
Subtilisin-like proprotein convertase [Posttranslational modification,
protein turnover, chaperones]
- KOG3526:
Subtilisin-like proprotein convertase [Posttranslational modification,
protein turnover, chaperones]
|
|
|
| 8883 |
APPBP1 |
amyloid beta precursor protein binding protein 1, 59kDa |
16q22 |
|
- KOG2016:
NEDD8-activating complex, APP-BP1/UBA5 component [Posttranslational
modification, protein turnover, chaperones]
- pfam00899:
ThiF family
|
|
|
| 84080 |
DKFZP434A1319 |
|
16q22.1 |
|
|
|
|
| 10428 |
CFDP1 |
craniofacial development protein 1 |
16q22.2-q22.3 |
|
- KOG4776:
Uncharacterized conserved protein BCNT [Function unknown]
|
|
|
| 23563 |
CHST5 |
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 |
16q22.3 |
|
|
|
|
| 1504 |
CTRB1 |
chymotrypsinogen B1 |
16q23-q24.1 |
|
- cd00190:
Trypsin-like serine protease
|
|
|
| 5261 |
PHKG2 |
phosphorylase kinase, gamma 2 (testis) |
16p12.1-p11.2 |
|
- KOG0599:
Phosphorylase kinase gamma subunit [Carbohydrate transport and
metabolism]
|
|
|
| 57638 |
KIAA1504 |
|
16p12.2 |
|
|
|
|
| 1632 |
DCI |
dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A
isomerase)
|
16p13.3 |
|
- KOG1683:
Hydroxyacyl-CoA dehydrogenase/enoyl-CoA hydratase [Lipid transport and
metabolism]
|
|
|
| 7329 |
UBE2I |
ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast) |
16p13.3 |
|
- KOG0424:
Ubiquitin-protein ligase [Posttranslational modification, protein
turnover, chaperones]
|
|
|
| 10942 |
PRSS21 |
protease, serine, 21 (testisin) |
16p13.3 |
|
- cd00190:
Trypsin-like serine protease
|
|
|
| 56052 |
ALG1 |
asparagine-linked glycosylation 1 homolog (yeast,
beta-1,4-mannosyltransferase)
|
16p13.3 |
|
- KOG2941:
Beta-1,4-mannosyltransferase [Posttranslational modification, protein
turnover, chaperones]
- pfam00534:
Glycosyl transferases group 1
|
|
|
| 23049 |
SMG1 |
|
16p13.11 |
- GO:0004428:
inositol/phosphatidylinositol kinase activity
|
- KOG0891:
DNA-dependent protein kinase [Replication, recombination and repair]
- KOG0892:
Protein kinase ATM/Tel1, involved in telomere length regulation and DNA
repair [Signal transduction mechanisms, Chromatin structure and
dynamics, Replication, recombination and repair, Cell cycle control,
cell division, chromosome partitioning]
- pfam02260:
FATC domain
- smart00146:
Phosphoinositide 3-kinase, catalytic domain
|
|
|
| 8844 |
KSR |
kinase suppressor of ras |
17q11.2 |
|
- COG0515:
Serine/threonine protein kinase [General function prediction only /
Signal transduction mechanisms / Transcription / DNA replication,
recombination, and repair]
- COG3642:
Mn2+-dependent serine/threonine protein kinase [Signal transduction
mechanisms]
- pfam00069:
Protein kinase domain
- smart00109:
Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
- smart00219:
Tyrosine kinase, catalytic domain
- smart00220:
Serine/Threonine protein kinases, catalytic domain
|
|
|
| 1659 |
DHX8 |
DEAH (Asp-Glu-Ala-His) box polypeptide 8 |
17q21.31 |
|
- COG1098:
Predicted RNA binding protein (contains ribosomal protein S1 domain)
[Translation, ribosomal structure and biogenesis]
- COG1185:
Polyribonucleotide nucleotidyltransferase (polynucleotide phosphorylase)
[Translation, ribosomal structure and biogenesis]
- KOG0922:
DEAH-box RNA helicase [RNA processing and modification]
- KOG0925:
mRNA splicing factor ATP-dependent RNA helicase [RNA processing and
modification]
|
|
|
| 10609 |
SC65 |
|
17q21.31 |
|
- KOG4459:
Membrane-associated proteoglycan Leprecan [Function unknown]
|
|
|
| 162427 |
LOC162427 |
|
17q21.31 |
|
|
|
|
| 5175 |
PECAM1 |
platelet/endothelial cell adhesion molecule (CD31 antigen) |
17q23 |
|
|
|
|
| 7083 |
TK1 |
thymidine kinase 1, soluble |
17q23.2-q25.3 |
|
- KOG3125:
Thymidine kinase [Nucleotide transport and metabolism]
|
|
|
| 2885 |
GRB2 |
growth factor receptor-bound protein 2 |
17q24-q25 |
|
- KOG3601:
Adaptor protein GRB2, contains SH2 and SH3 domains [Signal transduction
mechanisms]
- pfam00017:
SH2 domain
- smart00326:
Src homology 3 domains
|
|
|
| 3993 |
LLGL2 |
lethal giant larvae homolog 2 (Drosophila) |
17q24-q25 |
|
- KOG1983:
Tomosyn and related SNARE-interacting proteins [Intracellular
trafficking, secretion, and vesicular transport]
|
|
|
| 10238 |
HAN11 |
|
17q24.2 |
|
- KOG0277:
Peroxisomal targeting signal type 2 receptor [Intracellular trafficking,
secretion, and vesicular transport]
- KOG0290:
Conserved WD40 repeat-containing protein AN11 [Function unknown]
|
|
|
| 2194 |
FASN |
fatty acid synthase |
17q25 |
|
- KOG1202:
Animal-type fatty acid synthase and related proteins [Lipid transport
and metabolism]
- pfam00107:
Zinc-binding dehydrogenase
- pfam00109:
Beta-ketoacyl synthase, N-terminal domain
- pfam00698:
Acyl transferase domain
- pfam00975:
Thioesterase domain
- pfam02801:
Beta-ketoacyl synthase, C-terminal domain
|
|
|
| 6730 |
SRP68 |
signal recognition particle 68kDa |
17q25.3 |
|
- KOG2460:
Signal recognition particle, subunit Srp68 [Intracellular trafficking,
secretion, and vesicular transport]
|
|
|
| 9501 |
RPH3AL |
rabphilin 3A-like (without C2 domains) |
17p13.3 |
|
|
|
|
| 26256 |
CABYR |
calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin
2)
|
18q11.2 |
|
- pfam02197:
Regulatory subunit of type II PKA R-subunit
|
|
|
| 10449 |
ACAA2 |
acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme
A thiolase)
|
18q21.1 |
|
- KOG1391:
Acetyl-CoA acetyltransferase [Lipid transport and metabolism]
|
|
|
| 9352 |
TXNL |
thioredoxin-like, 32kDa |
18q21.31 |
|
- KOG0907:
Thioredoxin [Posttranslational modification, protein turnover,
chaperones]
- KOG0908:
Thioredoxin-like protein [Posttranslational modification, protein
turnover, chaperones]
- KOG1730:
Thioredoxin-like protein [Posttranslational modification, protein
turnover, chaperones]
|
|
|
| 5366 |
PMAIP1 |
phorbol-12-myristate-13-acetate-induced protein 1 |
18q21.32 |
|
|
|
|
| 103910 |
MRLC2 |
|
18p11.31 |
|
- KOG0031:
Myosin regulatory light chain, EF-Hand protein superfamily
[Cytoskeleton]
|
|
|
| 7298 |
TYMS |
thymidylate synthetase |
18p11.32 |
|
- KOG0673:
Thymidylate synthase [Nucleotide transport and metabolism]
|
|
|
| 27098 |
CLUL1 |
clusterin-like 1 (retinal) |
18p11.32 |
|
|
|
|
| 7305 |
TYROBP |
TYRO protein tyrosine kinase binding protein |
19q13.1 |
|
|
|
|
| 3276 |
HRMT1L2 |
HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae) |
19q13.3 |
|
- KOG1499:
Protein arginine N-methyltransferase PRMT1 and related enzymes
[Posttranslational modification, protein turnover, chaperones,
Transcription, Signal transduction mechanisms]
|
|
|
| 10055 |
SAE1 |
|
19q13.33 |
|
- KOG2014:
SMT3/SUMO-activating complex, AOS1/RAD31 component [Posttranslational
modification, protein turnover, chaperones]
- pfam00899:
ThiF family
|
|
|
| 10437 |
IFI30 |
interferon, gamma-inducible protein 30 |
19p13.1 |
|
- KOG3160:
Gamma-interferon inducible lysosomal thiol reductase [Posttranslational
modification, protein turnover, chaperones]
|
|
|
| 11283 |
CYP4F8 |
cytochrome P450, family 4, subfamily F, polypeptide 8 |
19p13.1 |
|
- KOG0157:
Cytochrome P450 CYP4/CYP19/CYP26 subfamilies [Secondary metabolites
biosynthesis, transport and catabolism, Lipid transport and metabolism]
|
|
|
| 5725 |
PTBP1 |
polypyrimidine tract binding protein 1 |
19p13.3 |
|
- KOG1190:
Polypyrimidine tract-binding protein [RNA processing and modification]
- smart00360:
RNA recognition motif
|
|
|
| 10908 |
NTE |
|
19p13.3-p13.2 |
|
- cd00038:
effector domain of the CAP family of transcription factors
- COG1752:
Predicted esterase of the alpha-beta hydrolase superfamily [General
function prediction only]
- KOG2968:
Predicted esterase of the alpha-beta hydrolase superfamily (Neuropathy
target esterase), contains cAMP-binding domains [General function
prediction only]
|
|
|
| 1265 |
CNN2 |
calponin 2 |
21q11.1 |
|
|
|
|
| 6782 |
STCH |
stress 70 protein chaperone, microsome-associated, 60kDa |
21q11.1 |
|
- KOG0101:
Molecular chaperones HSP70/HSC70, HSP70 superfamily [Posttranslational
modification, protein turnover, chaperones]
|
|
|
| 7032 |
TFF2 |
trefoil factor 2 (spasmolytic protein 1) |
21q22.3 |
|
|
|
|
| 2897 |
GRIK1 |
glutamate receptor, ionotropic, kainate 1 |
21q22.11 |
|
- cd00134:
Bacterial periplasmic transport systems use membrane-bound complexes and
substrate-bound, membrane-associated, periplasmic binding proteins
(PBPs) to transport a wide variety of substrates, such as, amino acids,
peptides, sugars, vitamins and in
- KOG1054:
Glutamate-gated AMPA-type ion channel receptor subunit GluR2 and related
subunits [Inorganic ion transport and metabolism, Amino acid transport
and metabolism, Signal transduction mechanisms]
- pfam00060:
Ligand-gated ion channel
- pfam01094:
Receptor family ligand binding region
|
|
|
| 5297 |
PIK4CA |
phosphatidylinositol 4-kinase, catalytic, alpha polypeptide |
22q11.21 |
|
- cd00142:
Phosphoinositide 3-kinase, catalytic domain
- KOG0902:
Phosphatidylinositol 4-kinase [Signal transduction mechanisms]
- pfam00613:
Phosphoinositide 3-kinase family, accessory domain (PIK domain)
|
|
|
| 51493 |
HSPC117 |
|
22q12 |
|
- KOG3833:
Uncharacterized conserved protein, contains RtcB domain [Function
unknown]
|
|
|
| 1565 |
CYP2D6 |
cytochrome P450, family 2, subfamily D, polypeptide 6 |
22q13.1 |
|
|
|
|
| 4627 |
MYH9 |
myosin, heavy polypeptide 9, non-muscle |
22q13.1 |
|
- KOG0161:
Myosin class II heavy chain [Cytoskeleton]
- KOG0977:
Nuclear envelope protein lamin, intermediate filament superfamily [Cell
cycle control, cell division, chromosome partitioning, Nuclear
structure]
- pfam00038:
Intermediate filament protein
- pfam02736:
Myosin N-terminal SH3-like domain
- smart00242:
Myosin
|
|
|
| 10521 |
DDX17 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 |
22q13.1 |
|
- KOG0331:
ATP-dependent RNA helicase [RNA processing and modification]
|
|
|
| 331 |
BIRC4 |
baculoviral IAP repeat-containing 4 |
Xq25 |
|
- KOG1101:
Apoptosis inhibitor IAP1 and related BIR domain proteins [Cell cycle
control, cell division, chromosome partitioning, General function
prediction only]
- KOG4275:
Predicted E3 ubiquitin ligase [Posttranslational modification, protein
turnover, chaperones]
|
|
|
| 4952 |
OCRL |
oculocerebrorenal syndrome of Lowe |
Xq25-q26.1 |
|
- cd00159:
GTPase-activator protein for Rho-like GTPases
- smart00128:
Inositol polyphosphate phosphatase, catalytic domain homologues
|
|
|
| 8270 |
DXS9879E |
DNA segment on chromosome X (unique) 9879 expressed sequence |
Xq28 |
|
|
|
|
| 50814 |
H105E3 |
|
Xq28 |
|
- KOG1430:
C-3 sterol dehydrogenase/3-beta-hydroxysteroid dehydrogenase and related
dehydrogenases [Lipid transport and metabolism, Amino acid transport and
metabolism]
|
|
|
| 10916 |
MAGED2 |
melanoma antigen, family D, 2 |
Xp11.2 |
|
- KOG4562:
Uncharacterized conserved protein (tumor-rejection antigen MAGE in
humans) [Function unknown]
|
|
|
| 24140 |
FTSJ1 |
FtsJ homolog 1 (E. coli) |
Xp11.23 |
|
- KOG1099:
SAM-dependent methyltransferase/cell division protein FtsJ [Cell cycle
control, cell division, chromosome partitioning, General function
prediction only]
|
|
|
| 1756 |
DMD |
dystrophin (muscular dystrophy, Duchenne and Becker types) |
Xp21.2 |
|
- cd00176:
Spectrin repeats, found in several proteins involved in cytoskeletal
structure
- cd00201:
Two conserved tryptophans domain
- COG0419:
ATPase involved in DNA repair [DNA replication, recombination, and
repair]
- KOG4286:
Dystrophin-like protein [Cell motility, Signal transduction mechanisms,
Cytoskeleton]
- KOG4301:
Beta-dystrobrevin [Cytoskeleton]
- pfam00435:
Spectrin repeat. Spectrin repeats are found in several proteins involved
in cytoskeletal structure. These include spectrin, alpha-actinin and
dystrophin. The sequence repeat used in this family is taken from the
structural repeat in reference.
- pfam00569:
Zinc finger, ZZ type. Zinc finger present in dystrophin, CBP/p300. ZZ in
dystrophin binds calmodulin Putative zinc finger
- smart00033:
Calponin homology domain
- smart00150:
Spectrin repeats
- smart00456:
Domain with 2 conserved Trp (W) residues
|
|
|
| 3052 |
HCCS |
holocytochrome c synthase (cytochrome c heme-lyase) |
Xp22.3 |
|
- KOG3996:
Holocytochrome c synthase/heme-lyase [Energy production and conversion,
Posttranslational modification, protein turnover, chaperones]
|
|
|
| 182 |
JAG1 |
jagged 1 (Alagille syndrome) |
20p12.1-p11.23 |
|
- cd00054:
Calcium-binding EGF-like domain, present in a large number of
membrane-bound and extracellular (mostly animal) proteins
- KOG1217:
Fibrillins and related proteins containing Ca2+-binding EGF-like domains
[Signal transduction mechanisms]
- KOG1219:
Uncharacterized conserved protein, contains laminin, cadherin and EGF
domains [Signal transduction mechanisms]
- pfam01414:
Delta serrate ligand
- smart00215:
von Willebrand factor (vWF) type C domain
|
|
|
| 655 |
BMP7 |
bone morphogenetic protein 7 (osteogenic protein 1) |
20q13 |
|
- KOG3900:
Transforming growth factor beta, bone morphogenetic protein and related
proteins [Signal transduction mechanisms]
|
|
|
| 3310 |
HSPA6 |
heat shock 70kDa protein 6 (HSP70B') |
1cen-qter |
|
|
|
|
| 3698 |
ITIH2 |
inter-alpha (globulin) inhibitor, H2 polypeptide |
10p15 |
- GO:0004867:
serine-type endopeptidase inhibitor activity
|
- pfam00092:
von Willebrand factor type A domain
- smart00609:
Vault protein Inter-alpha-Trypsin domain
|
|
|
| 5305 |
PIP5K2A |
phosphatidylinositol-4-phosphate 5-kinase, type II, alpha |
10p12.32 |
|
- KOG0229:
Phosphatidylinositol-4-phosphate 5-kinase [Signal transduction
mechanisms]
|
|
|
| 5592 |
PRKG1 |
protein kinase, cGMP-dependent, type I |
10q11.2 |
|
- cd00038:
effector domain of the CAP family of transcription factors
- KOG0614:
cGMP-dependent protein kinase [Signal transduction mechanisms]
- KOG0616:
cAMP-dependent protein kinase catalytic subunit (PKA) [Signal
transduction mechanisms]
|
|
|
| 7580 |
ZNF32 |
zinc finger protein 32 (KOX 30) |
10q22-q25 |
|
- COG5048:
FOG: Zn-finger [General function prediction only]
- KOG2462:
C2H2-type Zn-finger protein [Transcription]
- KOG3623:
Homeobox transcription factor SIP1 [Transcription]
|
|
|
| 8720 |
MBTPS1 |
membrane-bound transcription factor protease, site 1 |
16 |
|
- KOG4266:
Subtilisin kexin isozyme-1/site 1 protease, subtilase superfamily
[Posttranslational modification, protein turnover, chaperones]
- pfam00082:
Subtilase family
|
|
|
| 9118 |
INA |
internexin neuronal intermediate filament protein, alpha |
10q24.33 |
|
- pfam00038:
Intermediate filament protein
- pfam04732:
Intermediate filament head (DNA binding) region
|
|
|
| 9334 |
B4GALT5 |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 |
20q13.1-q13.2 |
|
- KOG3916:
UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase [Carbohydrate
transport and metabolism]
|
|
|
| 10557 |
RPP38 |
|
10p13 |
|
|
|
|
| 26994 |
RNF11 |
ring finger protein 11 |
1pter-p22.1 |
|
- cd00162:
RING-finger (Really Interesting New Gene) domain, a specialized type of
Zn-finger of 40 to 60 residues that binds two atoms of zinc
- KOG4628:
Predicted E3 ubiquitin ligase [Posttranslational modification, protein
turnover, chaperones]
|
|
|
| 27250 |
PDCD4 |
programmed cell death 4 (neoplastic transformation inhibitor) |
10q24 |
|
- KOG0403:
Neoplastic transformation suppressor Pdcd4/MA-3, contains MA3 domain
[Signal transduction mechanisms]
- LOAD_mi:
conserved alpha helical domain involved in protein-protein interactions
in eukaryotic translation regulators
|
|
|
| 27304 |
MOCS3 |
molybdenum cofactor synthesis 3 |
20q13.13 |
|
- COG0476:
Dinucleotide-utilizing enzymes involved in molybdopterin and thiamine
biosynthesis family 2 [Coenzyme metabolism]
- KOG2017:
Molybdopterin synthase sulfurylase [Coenzyme transport and metabolism]
- smart00450:
Rhodanese Homology Domain
|
|
|
| 27309 |
ZNF330 |
zinc finger protein 330 |
|
|
|
|
|
| 81502 |
HM13 |
histocompatibility (minor) 13 |
20q11.21 |
|
- KOG2443:
Uncharacterized conserved protein [Function unknown]
|
|
|