Details Currently Unavailable
A detailed, interactive page could not be generated for the requested gene. This usually happens when there is no significant expression data (CSI) available for it in our database.
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: 2516
{
"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"
},
{
"title": "Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1.",
"pubmedID": "15707893",
"doi": "10.1016/j.cell.2005.01.024"
},
{
"title": "The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1.",
"pubmedID": "15897460",
"doi": "10.1073/pnas.0409482102"
},
{
"title": "A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.",
"pubmedID": "10369247",
"doi": "10.1038/9629"
},
{
"title": "Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.",
"pubmedID": "11038323",
"doi": "10.1086/316893"
},
{
"title": "Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.",
"pubmedID": "11932325",
"doi": "10.1210/jcem.87.4.8376"
},
{
"title": "Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.",
"pubmedID": "17200175",
"doi": "10.1210/jc.2006-1672"
},
{
"title": "Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.",
"pubmedID": "17694559",
"doi": "10.1002/humu.20588"
},
{
"title": "Mutations in NR5A1 associated with ovarian insufficiency.",
"pubmedID": "19246354",
"doi": "10.1056/nejmoa0806228"
},
{
"title": "Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.",
"pubmedID": "20887963",
"doi": "10.1016/j.ajhg.2010.09.009"
},
{
"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.",
"pubmedID": "24405868",
"doi": "10.1186/1471-2350-15-7"
},
{
"title": "Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort.",
"pubmedID": "26523528",
"doi": "10.1210/jc.2015-3250"
},
{
"title": "NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.",
"pubmedID": "27490115",
"doi": "10.1038/gim.2016.118"
},
{
"title": "A 46,XX ovotesticular disorder of sex development likely caused by a steroidogenic factor-1 (NR5A1) variant.",
"pubmedID": "27855412",
"doi": "10.1159/000452888"
},
{
"title": "A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.",
"pubmedID": "27378692",
"doi": "10.1093/hmg/ddw186"
},
{
"title": "Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues.",
"pubmedID": "27610946",
"doi": "10.1002/humu.23116"
},
{
"title": "New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.",
"pubmedID": "28459839",
"doi": "10.1371/journal.pone.0176720"
}
],
"sequence": {
"length": 461,
"mass": 51636,
"checksum": "622644C62794826C",
"modified": {
"$date": {
"$numberLong": "883612800000"
}
},
"version": 2,
"sequence": "MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQVRARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQNCWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT"
},
"existence": 0,
"relevance": 1,
"proteinID": 2242611899
}
],
"singleCellExpressions": {
"cellSignificanceIndex": []
}
}