No CSI details found for gene ID: 2516
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: 2242611899
Symbol: STF1_HUMAN
Name: Steroidogenic factor 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8806624
Title: Structural characterization of human Ad4bp (SF-1) gene.
PubMed ID: 8806624
PubMed ID: 8938589
Title: Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.
PubMed ID: 8938589
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
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: 9177385
Title: Steroidogenic factor 1 messenger ribonucleic acid expression in steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ hybridization studies.
PubMed ID: 9177385
PubMed ID: 10230405
Title: Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress.
PubMed ID: 10230405
PubMed ID: 11479297
Title: Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5.
PubMed ID: 11479297
PubMed ID: 11897684
Title: Transcriptional activation of human CYP17 in H295R adrenocortical cells depends on complex formation among p54(nrb)/NonO, protein-associated splicing factor, and SF-1, a complex that also participates in repression of transcription.
PubMed ID: 11897684
PubMed ID: 15192080
Title: Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9.
PubMed ID: 15192080
DOI: 10.1210/me.2004-0173
PubMed ID: 17210646
Title: Cyclic AMP stimulates SF-1-dependent CYP11A1 expression through homeodomain-interacting protein kinase 3-mediated Jun N-terminal kinase and c-Jun phosphorylation.
PubMed ID: 17210646
DOI: 10.1128/mcb.02253-06
PubMed ID: 17664281
Title: Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17.
PubMed ID: 17664281
DOI: 10.1128/mcb.00355-07
PubMed ID: 17901130
Title: Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7.
PubMed ID: 17901130
DOI: 10.1210/me.2006-0478
PubMed ID: 19015234
Title: SUMOylation inhibits SF-1 activity by reducing CDK7-mediated serine 203 phosphorylation.
PubMed ID: 19015234
DOI: 10.1128/mcb.00295-08
PubMed ID: 15707893
Title: Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1.
PubMed ID: 15707893
PubMed ID: 15897460
Title: The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1.
PubMed ID: 15897460
PubMed ID: 10369247
Title: A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.
PubMed ID: 10369247
DOI: 10.1038/9629
PubMed ID: 11038323
Title: Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.
PubMed ID: 11038323
DOI: 10.1086/316893
PubMed ID: 11932325
Title: Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
PubMed ID: 11932325
PubMed ID: 17200175
Title: Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
PubMed ID: 17200175
DOI: 10.1210/jc.2006-1672
PubMed ID: 17694559
Title: Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
PubMed ID: 17694559
DOI: 10.1002/humu.20588
PubMed ID: 19246354
Title: Mutations in NR5A1 associated with ovarian insufficiency.
PubMed ID: 19246354
PubMed ID: 20887963
Title: Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
PubMed ID: 20887963
PubMed ID: 24405868
Title: The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
PubMed ID: 24405868
PubMed ID: 26523528
Title: Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort.
PubMed ID: 26523528
DOI: 10.1210/jc.2015-3250
PubMed ID: 27490115
Title: NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
PubMed ID: 27490115
DOI: 10.1038/gim.2016.118
PubMed ID: 27855412
Title: A 46,XX ovotesticular disorder of sex development likely caused by a steroidogenic factor-1 (NR5A1) variant.
PubMed ID: 27855412
DOI: 10.1159/000452888
PubMed ID: 27378692
Title: A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
PubMed ID: 27378692
DOI: 10.1093/hmg/ddw186
PubMed ID: 27610946
Title: Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues.
PubMed ID: 27610946
DOI: 10.1002/humu.23116
PubMed ID: 28459839
Title: New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
PubMed ID: 28459839
Sequence Information:
- Length: 461
- Mass: 51636
- Checksum: 622644C62794826C
- Sequence:
MDYSYDEDLD ELCPVCGDKV SGYHYGLLTC ESCKGFFKRT VQNNKHYTCT ESQSCKIDKT QRKRCPFCRF QKCLTVGMRL EAVRADRMRG GRNKFGPMYK RDRALKQQKK AQIRANGFKL ETGPPMGVPP PPPPAPDYVL PPSLHGPEPK GLAAGPPAGP LGDFGAPALP MAVPGAHGPL AGYLYPAFPG RAIKSEYPEP YASPPQPGLP YGYPEPFSGG PNVPELILQL LQLEPDEDQV RARILGCLQE PTKSRPDQPA AFGLLCRMAD QTFISIVDWA RRCMVFKELE VADQMTLLQN CWSELLVFDH IYRQVQHGKE GSILLVTGQE VELTTVATQA GSLLHSLVLR AQELVLQLLA LQLDRQEFVC LKFIILFSLD LKFLNNHILV KDAQEKANAA LLDYTLCHYP HCGDKFQQLL LCLVEVRALS MQAKEYLYHK HLGNEMPRNN LLIEMLQAKQ T
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": 2516,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AL137846.24"
]
},
"genePos": {
"start": 5022,
"end": 31185
},
"orientation": false,
"symbol": "NR5A1",
"created": {
"$date": {
"$numberLong": "1738333348812"
}
},
"crossReference": {
"enseGeneID": "ENSG00000136931",
"enseRnaID": [
"ENST00000373588.9"
],
"enseProtID": [
"ENSP00000362690.4"
]
},
"chrom": {
"pos": "9",
"type": 1,
"loc": "9q33.3"
},
"desc": "nuclear receptor subfamily 5 group A member 1",
"geneType": 5,
"mim": [
{
"id": 184757,
"relation": 0
}
],
"ontology": [
{
"id": "R-HSA-1266738",
"term": "Developmental Biology",
"cat": 10
},
{
"id": "R-HSA-392499",
"term": "Metabolism of proteins",
"cat": 10
},
{
"id": "R-HSA-74160",
"term": "Gene expression (Transcription)",
"cat": 10
},
{
"id": "R-HSA-452723",
"term": "Transcriptional regulation of pluripotent stem cells",
"cat": 11
},
{
"id": "R-HSA-597592",
"term": "Post-translational protein modification",
"cat": 11
},
{
"id": "R-HSA-73857",
"term": "RNA Polymerase II Transcription",
"cat": 11
},
{
"id": "R-HSA-9690406",
"term": "Transcriptional regulation of testis differentiation",
"cat": 11
},
{
"id": "R-HSA-212436",
"term": "Generic Transcription Pathway",
"cat": 12
},
{
"id": "R-HSA-2990846",
"term": "SUMOylation",
"cat": 12
},
{
"id": "R-HSA-3108232",
"term": "SUMO E3 ligases SUMOylate target proteins",
"cat": 13
},
{
"id": "R-HSA-383280",
"term": "Nuclear Receptor transcription pathway",
"cat": 13
},
{
"id": "R-HSA-4090294",
"term": "SUMOylation of intracellular receptors",
"cat": 14
},
{
"id": "GO:0000977",
"term": "RNA polymerase II transcription regulatory region sequence-specific DNA binding",
"pubMed": [
23610160
],
"cat": 0
},
{
"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:0001221",
"term": "transcription coregulator binding",
"pubMed": [
14701856
],
"cat": 0
},
{
"id": "GO:0003677",
"term": "DNA binding",
"pubMed": [
10567391
],
"cat": 0
},
{
"id": "GO:0003682",
"term": "chromatin binding",
"cat": 0
},
{
"id": "GO:0004879",
"term": "nuclear receptor activity",
"pubMed": [
8205615,
23610160
],
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
10567391,
16709599,
17474147,
17664281,
21220346,
22927646,
23610160,
25416956,
25910212,
32296183
],
"cat": 0
},
{
"id": "GO:0005543",
"term": "phospholipid binding",
"pubMed": [
17664281
],
"cat": 0
},
{
"id": "GO:0008270",
"term": "zinc ion binding",
"cat": 0
},
{
"id": "GO:0019899",
"term": "enzyme binding",
"pubMed": [
17664281
],
"cat": 0
},
{
"id": "GO:0043565",
"term": "sequence-specific DNA binding",
"pubMed": [
27378692
],
"cat": 0
},
{
"id": "GO:1990837",
"term": "sequence-specific double-stranded DNA binding",
"pubMed": [
28473536
],
"cat": 0
},
{
"id": "GO:0001553",
"term": "luteinization",
"cat": 1
},
{
"id": "GO:0006357",
"term": "regulation of transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:0007530",
"term": "sex determination",
"pubMed": [
24405868,
27378692,
27490115,
27610946,
27855412
],
"cat": 1
},
{
"id": "GO:0007538",
"term": "primary sex determination",
"pubMed": [
9590178
],
"cat": 1
},
{
"id": "GO:0008584",
"term": "male gonad development",
"pubMed": [
10369247,
27378692
],
"cat": 1
},
{
"id": "GO:0008585",
"term": "female gonad development",
"pubMed": [
27378692
],
"cat": 1
},
{
"id": "GO:0009755",
"term": "hormone-mediated signaling pathway",
"cat": 1
},
{
"id": "GO:0009888",
"term": "tissue development",
"cat": 1
},
{
"id": "GO:0010628",
"term": "positive regulation of gene expression",
"pubMed": [
27378692
],
"cat": 1
},
{
"id": "GO:0010628",
"term": "positive regulation of gene expression",
"pubMed": [
23610160
],
"cat": 1
},
{
"id": "GO:0030238",
"term": "male sex determination",
"pubMed": [
10369247
],
"cat": 1
},
{
"id": "GO:0030325",
"term": "adrenal gland development",
"cat": 1
},
{
"id": "GO:0030522",
"term": "intracellular receptor signaling pathway",
"cat": 1
},
{
"id": "GO:0033327",
"term": "Leydig cell differentiation",
"cat": 1
},
{
"id": "GO:0042445",
"term": "hormone metabolic process",
"cat": 1
},
{
"id": "GO:0045944",
"term": "positive regulation of transcription by RNA polymerase II",
"pubMed": [
23610160
],
"cat": 1
},
{
"id": "GO:0045944",
"term": "positive regulation of transcription by RNA polymerase II",
"pubMed": [
17664281
],
"cat": 1
},
{
"id": "GO:0045944",
"term": "positive regulation of transcription by RNA polymerase II",
"cat": 1
},
{
"id": "GO:0050810",
"term": "regulation of steroid biosynthetic process",
"pubMed": [
10567391
],
"cat": 1
},
{
"id": "GO:0051457",
"term": "maintenance of protein location in nucleus",
"cat": 1
},
{
"id": "GO:0060008",
"term": "Sertoli cell differentiation",
"cat": 1
},
{
"id": "GO:2000020",
"term": "positive regulation of male gonad development",
"pubMed": [
21412441
],
"cat": 1
},
{
"id": "GO:2000195",
"term": "negative regulation of female gonad development",
"cat": 1
},
{
"id": "GO:0000785",
"term": "chromatin",
"cat": 2
},
{
"id": "GO:0005634",
"term": "nucleus",
"pubMed": [
10567391,
10848616,
17664281
],
"cat": 2
},
{
"id": "GO:0005654",
"term": "nucleoplasm",
"cat": 2
},
{
"id": "GO:0005829",
"term": "cytosol",
"cat": 2
},
{
"id": "GO:0090575",
"term": "RNA polymerase II transcription regulator complex",
"cat": 2
}
],
"protein": [
{
"symbol": "STF1_HUMAN",
"name": "Steroidogenic factor 1",
"accession": [
"Q13285",
"O15196",
"Q5T6F5"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"MIM": [
"612965",
"617480",
"612964",
"612964",
"613957",
"184757",
"612964",
"612965",
"613957",
"617480"
],
"EMBL": [
"D88155",
"U76388",
"AL137846",
"AL354979",
"CH471090",
"BC032501",
"U32592"
],
"CCDS": [
"CCDS6856.1"
],
"PIR": [
"JC4972"
],
"RefSeq": [
"NP_004950.2",
"XP_005251928.1",
"XP_011516757.1"
],
"PDB": [
"1YOW",
"1ZDT",
"4QJR",
"4QK4",
"7KHT",
"8DAF"
],
"PDBsum": [
"1YOW",
"1ZDT",
"4QJR",
"4QK4",
"7KHT",
"8DAF"
],
"AlphaFoldDB": [
"Q13285"
],
"SMR": [
"Q13285"
],
"BioGRID": [
"108792"
],
"CORUM": [
"Q13285"
],
"IntAct": [
"Q13285"
],
"MINT": [
"Q13285"
],
"STRING": [
"9606.ENSP00000362690"
],
"BindingDB": [
"Q13285"
],
"ChEMBL": [
"CHEMBL4666"
],
"DrugBank": [
"DB04683",
"DB04752"
],
"GuidetoPHARMACOLOGY": [
"632"
],
"GlyGen": [
"Q13285"
],
"iPTMnet": [
"Q13285"
],
"PhosphoSitePlus": [
"Q13285"
],
"BioMuta": [
"NR5A1"
],
"DMDM": [
"3121738"
],
"MassIVE": [
"Q13285"
],
"PaxDb": [
"9606-ENSP00000362690"
],
"PeptideAtlas": [
"Q13285"
],
"ProteomicsDB": [
"59276"
],
"Antibodypedia": [
"16333"
],
"DNASU": [
"2516"
],
"Ensembl": [
"ENST00000373588.9"
],
"KEGG": [
"hsa:2516"
],
"MANE-Select": [
"ENST00000373588.9"
],
"UCSC": [
"uc004boo.2"
],
"AGR": [
"HGNC:7983"
],
"CTD": [
"2516"
],
"DisGeNET": [
"2516"
],
"GeneCards": [
"NR5A1"
],
"GeneReviews": [
"NR5A1"
],
"HGNC": [
"HGNC:7983"
],
"HPA": [
"ENSG00000136931"
],
"MalaCards": [
"NR5A1"
],
"neXtProt": [
"NX_Q13285"
],
"OpenTargets": [
"ENSG00000136931"
],
"Orphanet": [
"243",
"2138",
"393",
"242",
"251510",
"399805"
],
"PharmGKB": [
"PA31764"
],
"VEuPathDB": [
"HostDB:ENSG00000136931"
],
"eggNOG": [
"KOG4218"
],
"GeneTree": [
"ENSGT00940000153391"
],
"HOGENOM": [
"CLU_011437_0_0_1"
],
"InParanoid": [
"Q13285"
],
"OMA": [
"EVTCNNL"
],
"OrthoDB": [
"2968690at2759"
],
"PhylomeDB": [
"Q13285"
],
"TreeFam": [
"TF350737"
],
"PathwayCommons": [
"Q13285"
],
"Reactome": [
"R-HSA-383280",
"R-HSA-4090294",
"R-HSA-452723",
"R-HSA-9690406"
],
"SignaLink": [
"Q13285"
],
"SIGNOR": [
"Q13285"
],
"BioGRID-ORCS": [
"2516"
],
"EvolutionaryTrace": [
"Q13285"
],
"GeneWiki": [
"Steroidogenic_factor_1"
],
"GenomeRNAi": [
"2516"
],
"Pharos": [
"Q13285"
],
"PRO": [
"PR:Q13285"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"Q13285"
],
"Bgee": [
"ENSG00000136931"
],
"ExpressionAtlas": [
"Q13285"
],
"GO": [
"GO:0000785",
"GO:0005829",
"GO:0005654",
"GO:0005634",
"GO:0090575",
"GO:0003682",
"GO:0003677",
"GO:0000981",
"GO:0019899",
"GO:0004879",
"GO:0005543",
"GO:0000978",
"GO:0000977",
"GO:0043565",
"GO:1990837",
"GO:0001221",
"GO:0008270",
"GO:0030325",
"GO:0008585",
"GO:0042445",
"GO:0009755",
"GO:0033327",
"GO:0001553",
"GO:0051457",
"GO:0008584",
"GO:0030238",
"GO:2000195",
"GO:0010628",
"GO:2000020",
"GO:0045944",
"GO:0007538",
"GO:0050810",
"GO:0006357",
"GO:0060008",
"GO:0007530",
"GO:0009888"
],
"CDD": [
"cd07167",
"cd07070"
],
"Gene3D": [
"3.30.50.10",
"1.10.565.10"
],
"IDEAL": [
"IID00072"
],
"InterPro": [
"IPR035500",
"IPR016355",
"IPR000536",
"IPR001723",
"IPR001628",
"IPR013088"
],
"PANTHER": [
"PTHR24086",
"PTHR24086:SF24"
],
"Pfam": [
"PF00104",
"PF00105"
],
"PIRSF": [
"PIRSF002530"
],
"PRINTS": [
"PR00398",
"PR00047"
],
"SMART": [
"SM00430",
"SM00399"
],
"SUPFAM": [
"SSF57716",
"SSF48508"
],
"PROSITE": [
"PS51843",
"PS00031",
"PS51030"
],
"ChEBI": [
"CHEBI:57613",
"CHEBI:57643",
"CHEBI:57613",
"CHEBI:57643",
"CHEBI:57613",
"CHEBI:57643"
]
},
"citations": [
{
"title": "Structural characterization of human Ad4bp (SF-1) gene.",
"pubmedID": "8806624",
"doi": "10.1006\/bbrc.1996.1343"
},
{
"title": "Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.",
"pubmedID": "8938589",
"doi": "10.1677\/jme.0.0170139"
},
{
"title": "DNA sequence and analysis of human chromosome 9.",
"pubmedID": "15164053",
"doi": "10.1038\/nature02465"
},
{
"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": "Steroidogenic factor 1 messenger ribonucleic acid expression in steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ hybridization studies.",
"pubmedID": "9177385",
"doi": "10.1210\/jcem.82.6.3967"
},
{
"title": "Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress.",
"pubmedID": "10230405",
"doi": "10.1016\/s1097-2765(00)80480-3"
},
{
"title": "Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5.",
"pubmedID": "11479297",
"doi": "10.1074\/jbc.m104427200"
},
{
"title": "Transcriptional activation of human CYP17 in H295R adrenocortical cells depends on complex formation among p54(nrb)\/NonO, protein-associated splicing factor, and SF-1, a complex that also participates in repression of transcription.",
"pubmedID": "11897684",
"doi": "10.1210\/endo.143.4.8748"
},
{
"title": "Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein\/steroidogenic factor 1 (Ad4BP\/SF-1) regulates synergistic transcription between Ad4BP\/SF-1 and Sox9.",
"pubmedID": "15192080",
"doi": "10.1210\/me.2004-0173"
},
{
"title": "Cyclic AMP stimulates SF-1-dependent CYP11A1 expression through homeodomain-interacting protein kinase 3-mediated Jun N-terminal kinase and c-Jun phosphorylation.",
"pubmedID": "17210646",
"doi": "10.1128\/mcb.02253-06"
},
{
"title": "Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17.",
"pubmedID": "17664281",
"doi": "10.1128\/mcb.00355-07"
},
{
"title": "Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7.",
"pubmedID": "17901130",
"doi": "10.1210\/me.2006-0478"
},
{
"title": "SUMOylation inhibits SF-1 activity by reducing CDK7-mediated serine 203 phosphorylation.",
"pubmedID": "19015234",
"doi": "10.1128\/mcb.00295-08"
},
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