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AI-Generated Summary
Disclaimer: This summary is AI-generated based on limited data and may be speculative or contain inaccuracies. Detailed expression analysis for this entry is unavailable.
Raw Database JSON for Gene ID: 6736
{
"geneID": 6736,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AC006040.3"
]
},
"genePos": {
"start": 5070,
"end": 5897
},
"orientation": false,
"symbol": "SRY",
"created": {
"$date": {
"$numberLong": "1738333349190"
}
},
"crossReference": {
"enseGeneID": "ENSG00000184895",
"enseRnaID": [
"ENST00000383070.2"
],
"enseProtID": [
"ENSP00000372547.1"
]
},
"chrom": {
"loc": "Yp11.2"
},
"desc": "sex determining region Y",
"geneType": 5,
"mim": [
{
"id": 400044,
"relation": 1,
"cui": 2748896
},
{
"id": 400045,
"relation": 1,
"cui": 2748895
},
{
"id": 480000,
"relation": 0
}
],
"ontology": [
{
"id": "R-HSA-1266738",
"term": "Developmental Biology",
"cat": 10
},
{
"id": "R-HSA-162582",
"term": "Signal Transduction",
"cat": 10
},
{
"id": "R-HSA-195721",
"term": "Signaling by WNT",
"cat": 11
},
{
"id": "R-HSA-9690406",
"term": "Transcriptional regulation of testis differentiation",
"cat": 11
},
{
"id": "R-HSA-201681",
"term": "TCF dependent signaling in response to WNT",
"cat": 12
},
{
"id": "R-HSA-3769402",
"term": "Deactivation of the beta-catenin transactivating complex",
"cat": 13
},
{
"id": "GO:0000978",
"term": "RNA polymerase II cis-regulatory region sequence-specific DNA binding",
"cat": 0
},
{
"id": "GO:0000981",
"term": "DNA-binding transcription factor activity, RNA polymerase II-specific",
"pubMed": [
21412441
],
"cat": 0
},
{
"id": "GO:0000981",
"term": "DNA-binding transcription factor activity, RNA polymerase II-specific",
"cat": 0
},
{
"id": "GO:0001228",
"term": "DNA-binding transcription activator activity, RNA polymerase II-specific",
"cat": 0
},
{
"id": "GO:0003677",
"term": "DNA binding",
"pubMed": [
1425584,
8265659
],
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
9054412,
16166090
],
"cat": 0
},
{
"id": "GO:0005516",
"term": "calmodulin binding",
"cat": 0
},
{
"id": "GO:0140297",
"term": "DNA-binding transcription factor binding",
"pubMed": [
16582099
],
"cat": 0
},
{
"id": "GO:0000122",
"term": "negative regulation of transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:0007420",
"term": "brain development",
"cat": 1
},
{
"id": "GO:0007548",
"term": "sex differentiation",
"cat": 1
},
{
"id": "GO:0010628",
"term": "positive regulation of gene expression",
"pubMed": [
24681825
],
"cat": 1
},
{
"id": "GO:0030182",
"term": "neuron differentiation",
"cat": 1
},
{
"id": "GO:0030238",
"term": "male sex determination",
"pubMed": [
1695712
],
"cat": 1
},
{
"id": "GO:0045893",
"term": "positive regulation of DNA-templated transcription",
"pubMed": [
21412441
],
"cat": 1
},
{
"id": "GO:0045944",
"term": "positive regulation of transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:2000020",
"term": "positive regulation of male gonad development",
"pubMed": [
21412441
],
"cat": 1
},
{
"id": "GO:0000785",
"term": "chromatin",
"cat": 2
},
{
"id": "GO:0005634",
"term": "nucleus",
"cat": 2
},
{
"id": "GO:0005634",
"term": "nucleus",
"pubMed": [
21412441,
28030592
],
"cat": 2
},
{
"id": "GO:0005634",
"term": "nucleus",
"pubMed": [
1425584,
8265659
],
"cat": 2
},
{
"id": "GO:0005654",
"term": "nucleoplasm",
"cat": 2
},
{
"id": "GO:0005737",
"term": "cytoplasm",
"cat": 2
},
{
"id": "GO:0016607",
"term": "nuclear speck",
"cat": 2
}
],
"protein": [
{
"symbol": "SRY_HUMAN",
"accession": [
"Q05066"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"MIM": [
"400044",
"400045",
"400044",
"400045",
"480000"
],
"EMBL": [
"X53772",
"L10101",
"L10102",
"L08063",
"X96421",
"S53156",
"S56543",
"BC074923",
"BC074924"
],
"CCDS": [
"CCDS14772.1"
],
"PIR": [
"A47533"
],
"RefSeq": [
"NP_003131.1"
],
"PDB": [
"1HRY",
"1HRZ",
"1J46",
"1J47",
"2GZK",
"6EDB",
"7YHO",
"7YHP",
"7YHQ"
],
"PDBsum": [
"1HRY",
"1HRZ",
"1J46",
"1J47",
"2GZK",
"6EDB",
"7YHO",
"7YHP",
"7YHQ"
],
"AlphaFoldDB": [
"Q05066"
],
"EMDB": [
"EMD-33832",
"EMD-33836"
],
"SMR": [
"Q05066"
],
"BioGRID": [
"112614"
],
"IntAct": [
"Q05066"
],
"MINT": [
"Q05066"
],
"STRING": [
"9606.ENSP00000372547"
],
"iPTMnet": [
"Q05066"
],
"PhosphoSitePlus": [
"Q05066"
],
"BioMuta": [
"SRY"
],
"DMDM": [
"548983"
],
"MassIVE": [
"Q05066"
],
"PeptideAtlas": [
"Q05066"
],
"ABCD": [
"Q05066"
],
"Antibodypedia": [
"599"
],
"DNASU": [
"6736"
],
"Ensembl": [
"ENST00000383070.2"
],
"KEGG": [
"hsa:6736"
],
"MANE-Select": [
"ENST00000383070.2"
],
"UCSC": [
"uc004fqg.3"
],
"AGR": [
"HGNC:11311"
],
"CTD": [
"6736"
],
"DisGeNET": [
"6736"
],
"GeneCards": [
"SRY"
],
"GeneReviews": [
"SRY"
],
"HGNC": [
"HGNC:11311"
],
"HPA": [
"ENSG00000184895"
],
"MalaCards": [
"SRY"
],
"neXtProt": [
"NX_Q05066"
],
"OpenTargets": [
"ENSG00000184895"
],
"Orphanet": [
"1772",
"2138",
"393",
"242",
"251510"
],
"PharmGKB": [
"PA36135"
],
"VEuPathDB": [
"HostDB:ENSG00000184895"
],
"GeneTree": [
"ENSGT00940000165583"
],
"HOGENOM": [
"CLU_1209425_0_0_1"
],
"InParanoid": [
"Q05066"
],
"OMA": [
"DCTKATH"
],
"OrthoDB": [
"2902801at2759"
],
"PhylomeDB": [
"Q05066"
],
"PathwayCommons": [
"Q05066"
],
"Reactome": [
"R-HSA-3769402",
"R-HSA-9690406"
],
"SignaLink": [
"Q05066"
],
"SIGNOR": [
"Q05066"
],
"BioGRID-ORCS": [
"6736"
],
"EvolutionaryTrace": [
"Q05066"
],
"GeneWiki": [
"SRY"
],
"GenomeRNAi": [
"6736"
],
"Pharos": [
"Q05066"
],
"PRO": [
"PR:Q05066"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"Q05066"
],
"Bgee": [
"ENSG00000184895"
],
"ExpressionAtlas": [
"Q05066"
],
"GO": [
"GO:0000785",
"GO:0005737",
"GO:0016607",
"GO:0005654",
"GO:0005634",
"GO:0005516",
"GO:0003677",
"GO:0001228",
"GO:0000981",
"GO:0140297",
"GO:0000978",
"GO:0007420",
"GO:0030238",
"GO:0000122",
"GO:0030182",
"GO:0045893",
"GO:0010628",
"GO:2000020",
"GO:0045944",
"GO:0007548"
],
"CDD": [
"cd22034"
],
"Gene3D": [
"1.10.30.10"
],
"IDEAL": [
"IID00315"
],
"InterPro": [
"IPR009071",
"IPR036910",
"IPR017253",
"IPR050140"
],
"PANTHER": [
"PTHR10270:SF199",
"PTHR10270"
],
"Pfam": [
"PF00505"
],
"PIRSF": [
"PIRSF037653"
],
"SMART": [
"SM00398"
],
"SUPFAM": [
"SSF47095"
],
"PROSITE": [
"PS50118"
]
},
"citations": [
{
"title": "A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.",
"pubmedID": "1695712",
"doi": "10.1038/346240a0"
},
{
"title": "Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach.",
"pubmedID": "8434602"
},
{
"title": "Evidence that the SRY protein is encoded by a single exon on the human Y chromosome.",
"pubmedID": "8244390",
"doi": "10.1006/geno.1993.1395"
},
{
"title": "41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome.",
"pubmedID": "7557997",
"doi": "10.1006/geno.1995.1047"
},
{
"title": "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).",
"pubmedID": "15489334",
"doi": "10.1101/gr.2596504"
},
{
"title": "SRY, like HMG1, recognizes sharp angles in DNA.",
"pubmedID": "1425584",
"doi": "10.1002/j.1460-2075.1992.tb05551.x"
},
{
"title": "The SRY high-mobility-group box recognizes DNA by partial intercalation in the minor groove: a topological mechanism of sequence specificity.",
"pubmedID": "8265659",
"doi": "10.1073/pnas.90.24.11990"
},
{
"title": "Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors.",
"pubmedID": "8159753",
"doi": "10.1073/pnas.91.8.3368"
},
{
"title": "The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains.",
"pubmedID": "9054412",
"doi": "10.1074/jbc.272.11.7167"
},
{
"title": "Phosphorylation of an N-terminal motif enhances DNA-binding activity of the human SRY protein.",
"pubmedID": "9525897",
"doi": "10.1074/jbc.273.14.7988"
},
{
"title": "The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain.",
"pubmedID": "10732804",
"doi": "10.1007/s100480050042"
},
{
"title": "A direct role of SRY and SOX proteins in pre-mRNA splicing.",
"pubmedID": "11818535",
"doi": "10.1073/pnas.022645899"
},
{
"title": "Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1.",
"pubmedID": "12970737",
"doi": "10.1038/sj.onc.1206717"
},
{
"title": "Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.",
"pubmedID": "12764225",
"doi": "10.1073/pnas.1137864100"
},
{
"title": "Recombinant expression, purification and characterisation of the HMG domain of human SRY.",
"pubmedID": "12871148",
"doi": "10.2174/0929866033479004"
},
{
"title": "Sry-directed sex reversal in transgenic mice is robust with respect to enhanced DNA bending: comparison of human and murine HMG boxes.",
"pubmedID": "15170344",
"doi": "10.1021/bi049920a"
},
{
"title": "Regulation of human SRY subcellular distribution by its acetylation/deacetylation.",
"pubmedID": "15297880",
"doi": "10.1038/sj.emboj.7600352"
},
{
"title": "Sry associates with the heterochromatin protein 1 complex by interacting with a KRAB domain protein.",
"pubmedID": "15469996",
"doi": "10.1095/biolreprod.104.034447"
},
{
"title": "Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal.",
"pubmedID": "15746192",
"doi": "10.1210/me.2004-0334"
},
{
"title": "SRY-directed DNA bending and human sex reversal: reassessment of a clinical mutation uncovers a global coupling between the HMG box and its tail.",
"pubmedID": "16762365",
"doi": "10.1016/j.jmb.2006.04.048"
},
{
"title": "The poly(ADP-ribose) polymerase 1 interacts with Sry and modulates its biological functions.",
"pubmedID": "16904257",
"doi": "10.1016/j.mce.2006.06.008"
},
{
"title": "Exportin 4 mediates a novel nuclear import pathway for Sox family transcription factors.",
"pubmedID": "19349578",
"doi": "10.1083/jcb.200810106"
},
{
"title": "Sry and the hesitant beginnings of male development.",
"pubmedID": "16996051",
"doi": "10.1016/j.ydbio.2006.08.049"
},
{
"title": "KRAB: a partner for SRY action on chromatin.",
"pubmedID": "16414182",
"doi": "10.1016/j.mce.2005.12.011"
},
{
"title": "Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex.",
"pubmedID": "7774012",
"doi": "10.1016/0092-8674(95)90532-4"
},
{
"title": "Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.",
"pubmedID": "11563911",
"doi": "10.1006/jmbi.2001.4977"
},
{
"title": "Structure of a complex of tandem HMG boxes and DNA.",
"pubmedID": "16813837",
"doi": "10.1016/j.jmb.2006.04.059"
},
{
"title": "Mutational analysis of SRY in XY females.",
"pubmedID": "8257986",
"doi": "10.1002/humu.1380020504"
},
{
"title": "Mutations in SRY and SOX9: testis-determining genes.",
"pubmedID": "9143916",
"doi": "10.1002/(sici)1098-1004(1997)9:5<388::aid-humu2>3.0.co;2-0"
},
{
"title": "Genetic evidence equating SRY and the testis-determining factor.",
"pubmedID": "2247149",
"doi": "10.1038/348448a0"
},
{
"title": "Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.",
"pubmedID": "8353496",
"doi": "10.1093/hmg/2.6.785"
},
{
"title": "Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.",
"pubmedID": "1570829"
},
{
"title": "Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.",
"pubmedID": "1415266"
},
{
"title": "Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.",
"pubmedID": "1339396",
"doi": "10.1007/bf00215684"
},
{
"title": "True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.",
"pubmedID": "8447323"
},
{
"title": "A familial mutation in the testis-determining gene SRY shared by both sexes.",
"pubmedID": "1483689",
"doi": "10.1007/bf00220457"
},
{
"title": "A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.",
"pubmedID": "8105086",
"doi": "10.1136/jmg.30.8.655"
},
{
"title": "Description and functional implications of a novel mutation in the sex-determining gene SRY.",
"pubmedID": "8019555",
"doi": "10.1002/humu.1380030305"
},
{
"title": "Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRY.",
"pubmedID": "7985018",
"doi": "10.1126/science.7985018"
},
{
"title": "Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.",
"pubmedID": "7717397"
},
{
"title": "True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene.",
"pubmedID": "7776083",
"doi": "10.1016/s0022-3476(95)70247-4"
},
{
"title": "Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.",
"pubmedID": "9678356",
"doi": "10.1159/000014978"
},
{
"title": "A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.",
"pubmedID": "9521592",
"doi": "10.1007/s004390050680"
},
{
"title": "Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.",
"pubmedID": "9450909",
"doi": "10.1002/(sici)1098-1004(1998)11:1<90::aid-humu14>3.0.co;2-u"
},
{
"title": "A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.",
"pubmedID": "9652903",
"doi": "10.2169/internalmedicine.37.467"
},
{
"title": "A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father.",
"pubmedID": "10670762",
"doi": "10.1507/endocrj.46.735"
},
{
"title": "SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.",
"pubmedID": "10602113",
"doi": "10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5"
},
{
"title": "Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.",
"pubmedID": "10852465",
"doi": "10.1210/jcem.85.6.6637"
},
{
"title": "A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.",
"pubmedID": "10843173",
"doi": "10.1210/jcem.85.5.6609"
},
{
"title": "A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.",
"pubmedID": "10721678",
"doi": "10.1007/s100380050026"
},
{
"title": "Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.",
"pubmedID": "12107262",
"doi": "10.1210/jcem.87.7.8646"
},
{
"title": "True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.",
"pubmedID": "12793612",
"doi": "10.1515/jpem.2003.16.4.575"
},
{
"title": "Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.",
"pubmedID": "17063144",
"doi": "10.1038/sj.ejhg.5201719"
},
{
"title": "A novel missense mutation 224G>T (R75M) in SRY coding region interferes with nuclear import and results in 46, XY complete gonadal dysgenesis.",
"pubmedID": "28030592",
"doi": "10.1371/journal.pone.0168484"
}
],
"sequence": {
"length": 204,
"mass": 23884,
"checksum": "84323C30A9C2173E",
"modified": {
"$date": {
"$numberLong": "770428800000"
}
},
"version": 1,
"sequence": "MQSYASAMLSVFNSDDYSPAVQENIPALRRSSSFLCTESCNSKYQCETGENSKGNVQDRVKRPMNAFIVWSRDQRRKMALENPRMRNSEISKQLGYQWKMLTEAEKWPFFQEAQKLQAMHREKYPNYKYRPRRKAKMLPKNCSLLPADPASVLCSEVQLDNRLYRDDCTKATHSRMEHQLGHLPPINAASSPQQRDRYSHWTKL"
},
"existence": 0,
"relevance": 1,
"proteinID": 3401268527
}
],
"singleCellExpressions": {
"cellSignificanceIndex": []
}
}