No CSI details found for gene ID: 6736
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 3401268527
Symbol: SRY_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1695712
Title: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.
PubMed ID: 1695712
DOI: 10.1038/346240a0
PubMed ID: 8434602
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.
PubMed ID: 8434602
PubMed ID: 8244390
Title: Evidence that the SRY protein is encoded by a single exon on the human Y chromosome.
PubMed ID: 8244390
PubMed ID: 7557997
Title: 41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome.
PubMed ID: 7557997
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 1425584
Title: SRY, like HMG1, recognizes sharp angles in DNA.
PubMed ID: 1425584
PubMed ID: 8265659
Title: The SRY high-mobility-group box recognizes DNA by partial intercalation in the minor groove: a topological mechanism of sequence specificity.
PubMed ID: 8265659
PubMed ID: 8159753
Title: Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors.
PubMed ID: 8159753
PubMed ID: 9054412
Title: The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains.
PubMed ID: 9054412
PubMed ID: 9525897
Title: Phosphorylation of an N-terminal motif enhances DNA-binding activity of the human SRY protein.
PubMed ID: 9525897
PubMed ID: 10732804
Title: The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain.
PubMed ID: 10732804
PubMed ID: 11818535
Title: A direct role of SRY and SOX proteins in pre-mRNA splicing.
PubMed ID: 11818535
PubMed ID: 12970737
Title: Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1.
PubMed ID: 12970737
PubMed ID: 12764225
Title: Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.
PubMed ID: 12764225
PubMed ID: 12871148
Title: Recombinant expression, purification and characterisation of the HMG domain of human SRY.
PubMed ID: 12871148
PubMed ID: 15170344
Title: Sry-directed sex reversal in transgenic mice is robust with respect to enhanced DNA bending: comparison of human and murine HMG boxes.
PubMed ID: 15170344
DOI: 10.1021/bi049920a
PubMed ID: 15297880
Title: Regulation of human SRY subcellular distribution by its acetylation/deacetylation.
PubMed ID: 15297880
PubMed ID: 15469996
Title: Sry associates with the heterochromatin protein 1 complex by interacting with a KRAB domain protein.
PubMed ID: 15469996
PubMed ID: 15746192
Title: Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal.
PubMed ID: 15746192
DOI: 10.1210/me.2004-0334
PubMed ID: 16762365
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.
PubMed ID: 16762365
PubMed ID: 16904257
Title: The poly(ADP-ribose) polymerase 1 interacts with Sry and modulates its biological functions.
PubMed ID: 16904257
PubMed ID: 19349578
Title: Exportin 4 mediates a novel nuclear import pathway for Sox family transcription factors.
PubMed ID: 19349578
PubMed ID: 16996051
Title: Sry and the hesitant beginnings of male development.
PubMed ID: 16996051
PubMed ID: 16414182
Title: KRAB: a partner for SRY action on chromatin.
PubMed ID: 16414182
PubMed ID: 7774012
Title: Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex.
PubMed ID: 7774012
PubMed ID: 11563911
Title: Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.
PubMed ID: 11563911
PubMed ID: 16813837
Title: Structure of a complex of tandem HMG boxes and DNA.
PubMed ID: 16813837
PubMed ID: 8257986
PubMed ID: 9143916
Title: Mutations in SRY and SOX9: testis-determining genes.
PubMed ID: 9143916
DOI: 10.1002/(sici)1098-1004(1997)9:5<388::aid-humu2>3.0.co;2-0
PubMed ID: 2247149
Title: Genetic evidence equating SRY and the testis-determining factor.
PubMed ID: 2247149
DOI: 10.1038/348448a0
PubMed ID: 8353496
Title: Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.
PubMed ID: 8353496
DOI: 10.1093/hmg/2.6.785
PubMed ID: 1570829
Title: Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.
PubMed ID: 1570829
PubMed ID: 1415266
Title: Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.
PubMed ID: 1415266
PubMed ID: 1339396
Title: Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.
PubMed ID: 1339396
DOI: 10.1007/bf00215684
PubMed ID: 8447323
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.
PubMed ID: 8447323
PubMed ID: 1483689
Title: A familial mutation in the testis-determining gene SRY shared by both sexes.
PubMed ID: 1483689
DOI: 10.1007/bf00220457
PubMed ID: 8105086
Title: A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
PubMed ID: 8105086
DOI: 10.1136/jmg.30.8.655
PubMed ID: 8019555
Title: Description and functional implications of a novel mutation in the sex-determining gene SRY.
PubMed ID: 8019555
PubMed ID: 7985018
Title: Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRY.
PubMed ID: 7985018
PubMed ID: 7717397
Title: Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.
PubMed ID: 7717397
PubMed ID: 7776083
Title: True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene.
PubMed ID: 7776083
PubMed ID: 9678356
Title: Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
PubMed ID: 9678356
DOI: 10.1159/000014978
PubMed ID: 9521592
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.
PubMed ID: 9521592
PubMed ID: 9450909
Title: Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.
PubMed ID: 9450909
DOI: 10.1002/(sici)1098-1004(1998)11:1<90::aid-humu14>3.0.co;2-u
PubMed ID: 9652903
Title: A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.
PubMed ID: 9652903
PubMed ID: 10670762
Title: A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father.
PubMed ID: 10670762
PubMed ID: 10602113
Title: SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.
PubMed ID: 10602113
DOI: 10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5
PubMed ID: 10852465
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.
PubMed ID: 10852465
PubMed ID: 10843173
Title: A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.
PubMed ID: 10843173
PubMed ID: 10721678
Title: A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.
PubMed ID: 10721678
PubMed ID: 12107262
Title: Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
PubMed ID: 12107262
PubMed ID: 12793612
Title: True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.
PubMed ID: 12793612
PubMed ID: 17063144
Title: Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
PubMed ID: 17063144
PubMed ID: 28030592
Title: A novel missense mutation 224G>T (R75M) in SRY coding region interferes with nuclear import and results in 46, XY complete gonadal dysgenesis.
PubMed ID: 28030592
Sequence Information:
- Length: 204
- Mass: 23884
- Checksum: 84323C30A9C2173E
- Sequence:
MQSYASAMLS VFNSDDYSPA VQENIPALRR SSSFLCTESC NSKYQCETGE NSKGNVQDRV KRPMNAFIVW SRDQRRKMAL ENPRMRNSEI SKQLGYQWKM LTEAEKWPFF QEAQKLQAMH REKYPNYKYR PRRKAKMLPK NCSLLPADPA SVLCSEVQLD NRLYRDDCTK ATHSRMEHQL GHLPPINAAS SPQQRDRYSH WTKL
Details Unavailable
Detailed CSI data for this gene is not available. You will be redirected to a page with all available raw data in 3 seconds.
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{
"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.",
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"doi": "10.1016\/0092-8674(95)90532-4"
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"title": "Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.",
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"title": "Mutational analysis of SRY in XY females.",
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"title": "Mutations in SRY and SOX9: testis-determining genes.",
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"title": "Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.",
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"title": "Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.",
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"title": "Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.",
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"title": "Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.",
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"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.",
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"title": "A familial mutation in the testis-determining gene SRY shared by both sexes.",
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"title": "A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.",
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"title": "Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.",
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"title": "True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene.",
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"title": "Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.",
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"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.",
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"title": "Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.",
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"title": "A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.",
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"title": "A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father.",
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"title": "SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.",
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"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.",
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"title": "A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.",
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"title": "A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.",
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"doi": "10.1007\/s100380050026"
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"title": "Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.",
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"title": "True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.",
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"title": "Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.",
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"title": "A novel missense mutation 224G>T (R75M) in SRY coding region interferes with nuclear import and results in 46, XY complete gonadal dysgenesis.",
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