Details for: NR5A1

Gene ID: 2516

Symbol: NR5A1

Ensembl ID: ENSG00000136931

Description: nuclear receptor subfamily 5 group A member 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.29
    Marker Score: 58436
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.31
    Marker Score: 4334
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.98
    Marker Score: 2207
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.85
    Marker Score: 3149.5
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.85
    Marker Score: 1995
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.76
    Marker Score: 1215
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.54
    Marker Score: 645
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 1.26
    Marker Score: 507
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.22
    Marker Score: 1163
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.22
    Marker Score: 12238
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.21
    Marker Score: 1290
  • Cell Name: monocyte (CL0000576)
    Fold Change: 1.21
    Marker Score: 1578.5
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.17
    Marker Score: 744
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.17
    Marker Score: 685
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71816
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48041
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.94
    Marker Score: 14722
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5348
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.92
    Marker Score: 5485.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.9
    Marker Score: 1709
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.88
    Marker Score: 672
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.87
    Marker Score: 483
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.83
    Marker Score: 480
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 402
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 183
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.7
    Marker Score: 1918
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.68
    Marker Score: 660
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.68
    Marker Score: 1378
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.67
    Marker Score: 442
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.64
    Marker Score: 510
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 152
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.57
    Marker Score: 918
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.57
    Marker Score: 3721
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.54
    Marker Score: 783
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 480
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.48
    Marker Score: 568
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 282
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.47
    Marker Score: 650.5
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.45
    Marker Score: 236
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.44
    Marker Score: 249
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.43
    Marker Score: 898
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.43
    Marker Score: 260
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.43
    Marker Score: 386
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.41
    Marker Score: 574
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.4
    Marker Score: 2396
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.38
    Marker Score: 663
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.37
    Marker Score: 245
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.36
    Marker Score: 358
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.34
    Marker Score: 622
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.32
    Marker Score: 155
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.25
    Marker Score: 109
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.24
    Marker Score: 80
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.22
    Marker Score: 57
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.21
    Marker Score: 113
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.2
    Marker Score: 119
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.19
    Marker Score: 325
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.18
    Marker Score: 189
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.17
    Marker Score: 179
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.16
    Marker Score: 51
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.16
    Marker Score: 207
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.16
    Marker Score: 97
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.15
    Marker Score: 96
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.15
    Marker Score: 109
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.15
    Marker Score: 297
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.14
    Marker Score: 34
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.13
    Marker Score: 129
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.12
    Marker Score: 81
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.12
    Marker Score: 34
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.12
    Marker Score: 104
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.12
    Marker Score: 43
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.12
    Marker Score: 189
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.12
    Marker Score: 43
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.12
    Marker Score: 90
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.11
    Marker Score: 255
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.11
    Marker Score: 26
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.1
    Marker Score: 36
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.1
    Marker Score: 33
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.1
    Marker Score: 35
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.1
    Marker Score: 35
  • Cell Name: group 2 innate lymphoid cell (CL0001069)
    Fold Change: 0.1
    Marker Score: 34
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 0.1
    Marker Score: 32
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.1
    Marker Score: 34
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.1
    Marker Score: 626
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.09
    Marker Score: 34
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.09
    Marker Score: 92
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.09
    Marker Score: 31
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.09
    Marker Score: 34
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.09
    Marker Score: 23
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.09
    Marker Score: 94
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.08
    Marker Score: 29
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.08
    Marker Score: 25
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.08
    Marker Score: 35
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.08
    Marker Score: 35

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Other Information

**Key characteristics:** - NR5A1 is a transcription factor that belongs to the NR5A subfamily of nuclear receptors. - It is a key regulator of gene expression and plays a significant role in the development and function of various cell types. - NR5A1 is a well-known regulator of stem cell differentiation, proliferation, and survival. **Pathways and functions:** - NR5A1 is involved in chromatin remodeling and gene expression through various pathways. - It is a key regulator of neural differentiation and survival in the developing brain. - It also plays a role in adult neuroprotection and regeneration. - NR5A1 is involved in the regulation of cell cycle progression, apoptosis, and inflammation. - It is also involved in the regulation of metabolism, cell growth, and differentiation. **Clinical significance:** - NR5A1 mutations have been linked to several neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, and epilepsy. - NR5A1 inhibitors are being investigated as potential therapies for these disorders. **Additional information:** - NR5A1 is a ubiquitin-dependent protein that is regulated by various post-translational modifications. - It is also a target for extracellular signaling molecules, including the neurotransmitters glutamate and neurosteroids. - NR5A1 is a highly conserved protein with important roles in both vertebrates and invertebrates.

Genular Protein ID: 2242611899

Symbol: STF1_HUMAN

Name: Steroidogenic factor 1

UniProtKB Accession Codes:

Q13285 O15196 Q5T6F5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChEBI 6 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 7 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 39 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 10 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 6 PIR 1 PIRSF 1 PRINTS 2 PRO 1 PROSITE 3 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 4 RefSeq 3 SAM 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8806624

Title: Structural characterization of human Ad4bp (SF-1) gene.

PubMed ID: 8806624

DOI: 10.1006/bbrc.1996.1343

PubMed ID: 8938589

Title: Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.

PubMed ID: 8938589

DOI: 10.1677/jme.0.0170139

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

DOI: 10.1210/jcem.82.6.3967

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

DOI: 10.1016/s1097-2765(00)80480-3

PubMed ID: 11479297

Title: Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5.

PubMed ID: 11479297

DOI: 10.1074/jbc.m104427200

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

DOI: 10.1210/endo.143.4.8748

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

DOI: 10.1016/j.cell.2005.01.024

PubMed ID: 15897460

Title: The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1.

PubMed ID: 15897460

DOI: 10.1073/pnas.0409482102

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

DOI: 10.1210/jcem.87.4.8376

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

DOI: 10.1056/nejmoa0806228

PubMed ID: 20887963

Title: Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.

PubMed ID: 20887963

DOI: 10.1016/j.ajhg.2010.09.009

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

DOI: 10.1186/1471-2350-15-7

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

DOI: 10.1371/journal.pone.0176720

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

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.