Gene | LocusID | Title | GO molecular processes | Map | #PFAM motif | GO Biological process | accession
intron or no |
GO Cellular compartment | Phenotype |
ANAPC1 | 64682;285069 | gene ANAPC1 encoding anaphase-promoting complex 1 (meiotic checkpoint regulator). | 1 | ||||||
ank.12/ ank.13 | 57730 | gene ank.12/ ank.13 encoding KIAA1641 protein. | ankyrin | 1 | |||||
ArfGap.8/ glamu | 255326 | gene ArfGap.8 (and glamu) encoding hypothetical protein LOC255326. | DNA binding | 3 | nucleus | ||||
CAPRI | 10156;246721 | gene CAPRI encoding Ca2+-promoted Ras inactivator. | DNA binding activity; GTPase activator activity; | 5 | intracellular signaling cascade; transcription regulation | ||||
CES1/ CESR | 1066;51716 | gene CES1 and CESR, encoding carboxylesterase 1 (monocyte/macrophage serine esterase 1). | serine esterase activity; hydrolase activity | 1 | embryogenesis and morphogenesis; metabolism; response to toxin; xenobiotic metabolism | endoplasmic reticulum; extracellular space | |||
CLN3 | 1201 | gene CLN3 encoding ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease). | chaperone activity | 1 | protein folding | mitochondrion; membrane | [OMIM 204200] Ceroid, lipofuscinosis, neuronal, 3, juvenile | ||
CPEB1 | 64506;
338963;6218 |
gene CPEB1 encoding cytoplasmic polyadenylation element binding protein 1. | nucleic acid binding activity | 1 | protein biosynthesis | intracellular; ribosome | |||
CSAGE | 9598;158511 | gene CSAGE encoding taxol resistance associated gene 3. | |||||||
dara/ spyspee/ terswee | 283768 | gene dara, spyspee or terswee encoding hypothetical protein DKFZp434P162. | |||||||
DAZ.1/ DAZ3 | 1617;57055;
57054;57135 |
gene DAZ.1 encoding deleted in azoospermia; DAZ3 deleted in azoospermia 3. | RNA binding activity;nucleic acid binding activity | 1 | fertilization (sensu Animalia); spermatogenesis | ||||
DDX41 | 51428 | gene DDX41 encoding DEAD (Asp-Glu-Ala-Asp) box polypeptide 41. | RNA binding activity; ATP dependent helicase activity | 3 | apoptosis; development; RNA processing | nucleus | |||
deerubu/ rumeybu | 343070 | gene deerubu or rumeybu, encoding hypothetical protein LOC343070. | |||||||
DEFA1 | 1667;1668 | gene DEFA1 encoding defensin, alpha 1, myeloid-related sequence. | antifungal peptide activity | 2 | defense response; xenobiotic metabolism | extracellular | |||
DMRTC1 | 63947;203429 | gene DMRTC1 encoding DMRT-like family C1. | |||||||
EIF3S8 | 8663 | gene EIF3S8 encoding eukaryotic translation initiation factor 3, subunit 8, 110kDa. | translation initiation factor activity | 2 | regulation of translational initiation | eukaryotic translation initiation factor 3 complex | |||
ENIGMA/ LIM.4 | 9260 | gene ENIGMA encoding enigma (LIM domain protein). | 2 | intracellular signaling cascade; receptor mediated endocytosis | |||||
FKBP6
/ FKBP6.1/
FKBP6.2
/ FKBP6.3
|
8468; 54441 | gene FKBP6 or .1,.2,.3, encoding FK506 binding protein 6, 36kDa. | FK506 binding activity; zinc ion binding | 1 to 3 | protein folding | intracellular | |||
Gaa1.0 | 96626;339692 | gene Gaa1.0 encoding pinch-2. | 2 | ||||||
GAGE1 | 2543;2574;2575;
2576;2577;2578; 2579;26748; 26749;89801 |
gene GAGE1 encoding G antigen 1. | 2 | cellular defense response | |||||
GAGED2/ GAGED2.1 | 9503 | gene GAGED2 or GAGED2.1, encoding G antigen, family D, 2. | 1 | ||||||
GAGED3 / GAGED3.1 | 9502 | gene GAGED3 or GAGED3.1, encoding G antigen, family D, 3. | 1 | ||||||
geefor | 55747 | gene geefor encoding hypothetical protein FLJ10824. | |||||||
GOLGIN-67 | 23015 | gene GOLGIN-67 encoding golgin-67. | Golgi apparatus | ||||||
GSTT2/ DDT | 2953 | gene GSTT2 encoding glutathione S-transferase theta 2. | 2 | ||||||
GTF2H2/ GTF2H2.1 | 2966 | gene GTF2H2.1 encoding general transcription factor IIH, polypeptide 2, 44kDa. | 1 | DNA repair; regulation of transcription, DNA-dependent | nucleus | ||||
GTF2I/ GTF2I.1 | 2969;2970 | gene GTF2I encoding general transcription factor II, i. | protein binding activity; transcription factor activity | 1 | regulation of transcription initiation from Pol II promoter, DNA-dependent; signal transduction | nucleus | |||
GTF2IRD2/ GTF2I.4 | 54441;84163 | gene GTF2IRD2 encoding DKFZp434A0131 protein./ gene GTF2I.4 encoding transcription factor GTF2IRD2. | 3/2 | ||||||
HEAT.2/ HEAT.4 | 84500 | gene HEAT.2 or HEAT.4, encoding KIAA1833 protein. | 1 | ||||||
heyu | 374676 | gene heyu encoding similar to golgi autoantigen, golgin subfamily a, 2; SY11 protein. | |||||||
HIST2H4 | 8370 | gene HIST2H4 encoding histone 2, H4. | DNA binding | 1 | |||||
HSFY | 55410;86614;
159119;83869 |
gene HSFY encoding chromosome Y open reading frame 14. | transcription factor activity | 1 | regulation of transcription, DNA-dependent | nucleus | |||
HSGP25L2G | 54732 | gene HSGP25L2G encoding gp25L2 protein. | protein carrier activity | 1 | intracellular protein transport | membrane | |||
IRS.4 | 79930 | gene IRS.4 encoding Dok-like protein. | insulin receptor binding | 2 | |||||
joyplaw | 57234 | gene joyplaw encoding KIAA0493 protein. | |||||||
kerira/ niho | 54540 | gene kerira or niho, encoding hypothetical protein FLJ10404. | |||||||
koby | 255313 | gene koby encoding hypothetical protein LOC255313. | |||||||
koharu | 159110 | gene koharu encoding hypothetical protein LOC159110. | |||||||
korva / koyva/ swoydoy | 158852 | gene korva or koyva or swoydoy, encoding hypothetical protein MGC27005. | |||||||
LAT1-3TM | 81893 | gene LAT1-3TM encoding LAT1-3TM protein. | transcription regulator activity | 2 | |||||
LGALS7 | 3963 | genes LGALS7 encoding lectin, galactoside-binding, soluble, 7 (galectin 7). | lectin;sugar binding activity | 1 | heterophilic cell adhesion; cell growth and/or maintenance | extracellular space | |||
LW-1 | 51402 | gene LW-1 encoding LW-1. | transcription factor activity | 1 | regulation of transcription, DNA-dependent | nucleus | |||
MAGE.2 | 81557 | gene MAGE.2 encoding melanoma antigen, family D, 4. | 1 | ||||||
MAGEA2 | 9598;266740;
4101;4111 |
gene MAGEA2 encoding taxol resistance associated gene 3. | 1 | drug resistance | |||||
MAGEA2b | 266740;
4101;4105 |
gene MAGEA2b encoding melanoma antigen, family A, 2, copy b. | 1 | ||||||
MAGEA9 | 4108 | gene MAGEA9 encoding melanoma antigen, family A, 9. | 1 | ||||||
MAGED4 | 81557 | gene MAGED4 encoding melanoma antigen, family D, 4. | 1 | ||||||
MORN.6 | 222967;285927 | gene MORN.6 encoding hypothetical protein LOC222967. | 1 | ||||||
mowaro | 84771;348448;
349338;349410 |
gene mowaro encoding hypothetical protein MGC13005. | |||||||
MRC1 | 4360 | gene MRC1 encoding mannose receptor, C type 1. | sugar binding activity; mannose binding activity; calcium ion binding activity; receptor activity | 3 | heterophilic cell adhesion; pinocytosis; receptor mediated endocytosis | integral to plasma membrane | |||
nawfu | 252946 | gene nawfu encoding chromosome Y open reading frame 16. | |||||||
NBR2.1/ arf.11 | 51326;10230 | gene NBR2.1 encoding ARF protein./gene arf.11 encoding ARF protein. | 1 | ||||||
novar | 51402 | gene novar encoding LW-1. | transcription factor activity | 1 | regulation of transcription, DNA-dependent | nucleus | |||
NXF2/ NXF2.1 | 56001 | gene NXF2 or NXF2.1 encoding nuclear RNA export factor 2. | protein transporter activity; RNA binding activity | 4 | protein-nucleus import; mRNA processing; mRNA-nucleus export; | intracellular; nuclear RNA export factor complex; nucleus | |||
PEPP-2 | 84528 | gene PEPP-2 encoding PEPP subfamily gene 2. | transcription factor activity | 1 | regulation of transcription, DNA-dependent | nucleus | |||
PLGL.1 | 112597;5342 | gene PLGL.1 encoding hypothetical protein MGC4677. | plasmin activity | 3 | |||||
PM5 / Cna_B.0 | 283820;23420 | gene PM5 (or Cna_B.0) encoding hypothetical protein LOC283820. | 1 | ||||||
PRO0659/ hiri | 29057 | gene PRO0659 (or hiri), encoding PRO0659 protein. | |||||||
RANBP2L1/ RANBP2L1.1/ RANBP2L1.2 | 84220 | gene RANBP2L1 encoding RAN binding protein 2-like 1. | RAN protein binding activity | 1 or 3 | |||||
RBMY1A1.2/ RBMY1A1.3 | 5940; 159163 | gene RBMY1A1.2/3 encoding RNA binding motif protein, Y-linked, family 1, member A1. | RNA binding activity | 1 | RNA processing; spermatogenesis | nucleus | |||
resa | 339091 | gene resa encoding hypothetical protein LOC339091. | |||||||
reyara | 151009 | gene reyara encoding hypothetical protein FLJ38359. | |||||||
risi/ rusi | 80154 | gene risi or rusi, encoding hypothetical protein FLJ22795. | |||||||
RPS17 | 6218 | gene RPS17 encoding ribosomal protein S17. | RNA binding activity | 1 | protein biosynthesis; cytosolic small ribosomal subunit (sensu Eukarya) | intracellular; ribosome; cytosolic small ribosomal subunit (sensu Eukarya) | |||
SCP.0/ SCP.7 | 283971;348174 | gene SCP.0 or 7, encoding hypothetical protein MGC34761. | sugar binding | 4 | extracellular | ||||
SERF1A.1 | 8293;6606;6607 | gene SERF1A.1 encoding small EDRK-rich factor 1A (telomeric). | 2 | ||||||
SFTPA1/ SFTPA1.1 | 6435 | gene SFTPA1 encoding surfactant, pulmonary-associated protein A1. | sugar binding | 2 | extracellular space | ||||
shardawbu/ shodawbu | 150527 | gene shardawbu or shodawbu encoding hypothetical protein LOC150527. | |||||||
skerzar | 80154 | gene skerzar encoding hypothetical protein FLJ22795. | |||||||
skeyplar | 84771;348448;
349410 |
gene skeyplar encoding hypothetical protein MGC13005. | |||||||
SMN1 | 6606 | gene SMN1 encoding survival of motor neuron 1, telomeric. | 1 | [OMIM 158590] Spinal muscular atrophy, 4 | |||||
SMN2 | 6606;6607 | gene SMN2 encoding survival of motor neuron 2. | 1 | ||||||
SMP1/ UPF0220.0 | 23585 | gene SMP1 or UPF0220.0, encoding small membrane protein 1. | 1 | integral to membrane | |||||
sneera/ storar | 348162 | gene sneera or storar encoding hypothetical protein MGC9515. | |||||||
SSX1 | 6756;6759 | gene SSX1 encoding synovial sarcoma, X breakpoint 1. | nucleic acid binding activity; transcription co-repressor activity | 1 | regulation of transcription, DNA-dependent; cell growth and/or maintenance | intracellular/ nucleus | [OMIM 300326] Sarcoma, synovial | ||
SSX2 | 6757 | gene SSX2 encoding synovial sarcoma, X breakpoint 2. | nucleic acid binding | 1 | regulation of transcription, DNA-dependent | intracellular | [OMIM 300192] Sarcoma, synovial | ||
SSX4 | 6759 | gene SSX4 encoding synovial sarcoma, X breakpoint 4. | nucleic acid binding | 1 | regulation of transcription, DNA-dependent | intracellular | |||
steeju | 24150 | gene steeju encoding TP53TG3 protein. | |||||||
stovy | 340618 | gene stovy encoding hypothetical protein LOC340618. | |||||||
STRC | 161497 | gene STRC encoding stereocilin. | [OMIM 603720] Deafness, autosomal recessive 16 | ||||||
SULT1A3 | 79008;6818 | gene SULT1A3 encoding hypothetical protein MGC5178. | aryl sulfotransferase activity; transferase activity | 2 | steroid metabolism; synaptic transmission | cytoplasm | |||
TBC1D3 | 339284;84218 | gene TBC1D3 encoding hypothetical protein FLJ11822. | membrane alanyl aminopeptidase activity | 2 | proteolysis and peptidolysis | ||||
THOC3 | 84321 | gene THOC3 encoding THO complex 3. | RNA binding activity | 1 | mRNA-nucleus export; nuclear mRNA splicing, via spliceosome; transport | nucleus | |||
titori | 55911 | gene titori encoding apolipoprotein B48 receptor. | |||||||
TTTY8 | 84673 | gene TTTY8 encoding testis-specific transcript, Y-linked 8. | |||||||
VCY | 9084 | gene VCY encoding variable charge, Y-linked. | |||||||
waneri | 9677 | gene waneri encoding KIAA0377 gene product. | 1 | ||||||
WBSCR16 | 81554 | gene WBSCR16 encoding Williams-Beuren syndrome chromosome region 16. | 1 | ||||||
Y_phosphatase.7/ kloraby | 26095 | gene Y_phosphatase.7 or kloraby, encoding DKFZP566K0524 protein. | protein tyrosine phosphatase activity | 1 | protein amino acid dephosphorylation |
Genes repeated in the pseudo-autosomal region: (none has been associated to a phenotype in OMIM as of december 03)
Gene | LocusID | Title | GO molecular processes | Map | #PFAM motif | GO Biological process | accession
intron or no |
GO Cellular compartment | |
ALTE | 9189;207063 | gene ALTE encoding Ac-like transposable element. | transposase activity; DNA binding activity; oxidoreductase activity | XY | 3 | metabolism | nuclear chromosome | ||
ASMT | 438;8227 | gene ASMT encoding acetylserotonin O-methyltransferase. | neuropeptide hormone activity; acetylserotonin O-methyltransferase activity | XY | 1 | B-cell activation; melatonin biosynthesis; regulation of transcription, DNA-dependent; signal transduction; rhythmic behavior; protein biosynthesis | membrane | ||
ASMTL | 8623 | gene ASMTL encoding acetylserotonin O-methyltransferase-like. | acetylserotonin O-methyltransferase activity | XY | 2 | melatonin biosynthesis | |||
CD99 | 4267 | gene CD99 encoding CD99 antigen. | cell adhesion molecule activity | XY | cell adhesion | proteoglycan integral to plasma membrane | |||
ELK4 | 2005;80306 | gene ELK4 encoding ETS-domain protein (SRF accessory protein 1). | transcription cofactor activity; protein binding activity | XY | 1 | regulation of transcription, DNA-dependent, from Pol II promoter | nucleus | ||
IL3RA / IL3RA.1 | 3563 | gene IL3RA encoding interleukin 3 receptor, alpha (low affinity). | interleukin-3 receptor activity; receptor signaling protein activity; hematopoietin/interferon-class (D200-domain) cytokine receptor activity | XY | development; protein amino acid phosphorylation | integral to membrane | |||
IL9R/ IL9R.1 | 3581;349410 | gene IL9R encoding interleukin 9 receptor. | XY | ||||||
mura/ muru | 55344 | gene mura or muru, encoding hypothetical protein FLJ11323. | phospholipase C activity | XY | intracellular signaling cascade | ||||
P2RY8 | 286530 | gene P2RY8 encoding purinergic receptor P2Y, G-protein coupled, 8. | rhodopsin-like receptor activity; purinergic nucleotide receptor activity, G-protein coupled | XY | 1 | G-protein coupled receptor protein signaling pathway | integral to membrane | ||
PR48 | 28227 | gene PR48 encoding protein phosphatase 2A 48 kDa regulatory subunit. | protein phosphatase type 2A, regulator activity;calcium ion binding activity | XY | cell cycle arrest; DNA replication initiation | nucleus | |||
SLC25A6 | 293 | gene SLC25A6 encoding solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6. | binding activity; transporter activity | XY | 1 | mitochondrial transport; ATP/ADP exchange; | integral to mitochondrial inner membrane; pre-sequence translocase complex | ||
SPRY3/ SPRY3.1 | 10251 | gene SPRY3 or SPRY3.1, encoding sprouty homolog 3 (Drosophila). | XY | 1 | development | membrane | |||
SYBL1/ SYBL1.1 | 6845 | gene SYBL1 encoding synaptobrevin-like 1. | XY | 1 | |||||
TXNRD1 | 7296 | gene TXNRD1 encoding thioredoxin reductase 1. | thioredoxin reductase (NADPH) activity; disulfide oxidoreductase activity; metal ion binding activity; electron transporter activity | XY | 3 | electron transport; signal transduction | cytoplasm |