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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 10.2255
    Cell Significance Index: 274.0000
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 5.2036
    Cell Significance Index: 25.9600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 2.5627
    Cell Significance Index: -0.6500
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.3448
    Cell Significance Index: 10.8300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.8408
    Cell Significance Index: 44.5900
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.5791
    Cell Significance Index: 7.6800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.1783
    Cell Significance Index: 15.0900
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.6655
    Cell Significance Index: 3.9100
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.5708
    Cell Significance Index: 8.3200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5339
    Cell Significance Index: 73.3200
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.4621
    Cell Significance Index: 6.4900
  • Cell Name: obsolete somatic cell (CL0002371)
    Fold Change: 0.3750
    Cell Significance Index: 2.8400
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.3454
    Cell Significance Index: 5.0200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3328
    Cell Significance Index: 8.7500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2595
    Cell Significance Index: 51.5000
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.2042
    Cell Significance Index: 2.1300
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.1843
    Cell Significance Index: 2.2800
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.1271
    Cell Significance Index: 1.4000
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.0890
    Cell Significance Index: 1.2200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0600
    Cell Significance Index: 1.0100
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.0225
    Cell Significance Index: 0.1700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.0196
    Cell Significance Index: 0.5000
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.0123
    Cell Significance Index: 0.1700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0056
    Cell Significance Index: 0.0800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0028
    Cell Significance Index: 0.8100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0023
    Cell Significance Index: 0.4700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.0021
    Cell Significance Index: 0.0300
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.0017
    Cell Significance Index: 0.0200
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.0015
    Cell Significance Index: 0.0200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0015
    Cell Significance Index: 0.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0002
    Cell Significance Index: 0.0200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0001
    Cell Significance Index: -0.0200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0001
    Cell Significance Index: -0.0700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0003
    Cell Significance Index: -0.6400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0003
    Cell Significance Index: -0.5800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0004
    Cell Significance Index: -0.5800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0008
    Cell Significance Index: -0.5900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0011
    Cell Significance Index: -0.6200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0014
    Cell Significance Index: -0.4900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0017
    Cell Significance Index: -0.9800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0019
    Cell Significance Index: -1.2100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0019
    Cell Significance Index: -0.8800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0028
    Cell Significance Index: -0.0800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0033
    Cell Significance Index: -0.1300
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0039
    Cell Significance Index: -0.0500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0066
    Cell Significance Index: -0.0900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0067
    Cell Significance Index: -1.1400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0073
    Cell Significance Index: -1.0600
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0074
    Cell Significance Index: -0.0700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0077
    Cell Significance Index: -0.9500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0081
    Cell Significance Index: -0.4200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0090
    Cell Significance Index: -0.6900
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0091
    Cell Significance Index: -0.1100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0098
    Cell Significance Index: -1.1200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0098
    Cell Significance Index: -0.2500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0116
    Cell Significance Index: -0.3100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0120
    Cell Significance Index: -0.5300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0128
    Cell Significance Index: -0.3200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0137
    Cell Significance Index: -0.4800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0139
    Cell Significance Index: -0.7800
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: -0.0142
    Cell Significance Index: -0.1500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0146
    Cell Significance Index: -0.9800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0149
    Cell Significance Index: -0.7000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0153
    Cell Significance Index: -0.5000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0154
    Cell Significance Index: -0.3200
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0164
    Cell Significance Index: -0.2400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0171
    Cell Significance Index: -0.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0174
    Cell Significance Index: -0.6600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0174
    Cell Significance Index: -0.2600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0181
    Cell Significance Index: -0.8200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0183
    Cell Significance Index: -0.5800
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.0186
    Cell Significance Index: -0.2000
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0189
    Cell Significance Index: -0.3700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0198
    Cell Significance Index: -0.6300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0199
    Cell Significance Index: -0.4200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0205
    Cell Significance Index: -0.5700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0220
    Cell Significance Index: -0.5500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0221
    Cell Significance Index: -0.5400
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0222
    Cell Significance Index: -0.2800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0223
    Cell Significance Index: -0.6400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0224
    Cell Significance Index: -0.3800
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.0226
    Cell Significance Index: -0.1200
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0229
    Cell Significance Index: -0.2900
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0243
    Cell Significance Index: -0.6200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0247
    Cell Significance Index: -0.6200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0259
    Cell Significance Index: -0.5600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0266
    Cell Significance Index: -0.4500
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0270
    Cell Significance Index: -0.4100
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: -0.0280
    Cell Significance Index: -0.3300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0282
    Cell Significance Index: -0.8300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0282
    Cell Significance Index: -0.5500
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0283
    Cell Significance Index: -0.2800
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.0294
    Cell Significance Index: -0.3500
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0296
    Cell Significance Index: -0.4800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0297
    Cell Significance Index: -0.6200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0316
    Cell Significance Index: -0.6700
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.0320
    Cell Significance Index: -0.3400
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: -0.0321
    Cell Significance Index: -0.3700
  • Cell Name: mast cell (CL0000097)
    Fold Change: -0.0327
    Cell Significance Index: -0.4300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0331
    Cell Significance Index: -0.6600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transcriptional Regulation:** NR5A1 is a transcription factor that regulates the expression of target genes involved in steroid biosynthesis, gonad development, and sex determination. 2. **Ligand-Binding:** NR5A1 is a ligand-activated transcription factor, which means that its activity is modulated by the binding of specific ligands, such as steroid hormones. 3. **Heterodimerization:** NR5A1 can form heterodimers with other nuclear receptors, such as NR3C1 (estrogen receptor), to modulate gene expression. 4. **Cell-Specific Expression:** NR5A1 is highly expressed in cells of the adrenal gland, gonads, and reproductive system, including Leydig cells, Sertoli cells, and granulosa cells. **Pathways and Functions:** 1. **Sex Determination:** NR5A1 plays a critical role in the development of male and female gonads, influencing the expression of sex-specific genes and the production of sex hormones. 2. **Steroid Biosynthesis:** NR5A1 regulates the expression of genes involved in steroid biosynthesis, including the production of testosterone, estrogen, and progesterone. 3. **Adrenal Gland Development:** NR5A1 is essential for the development and function of the adrenal gland, regulating the expression of genes involved in cortisol and aldosterone production. 4. **Reproductive System Development:** NR5A1 influences the development of the reproductive system, including the formation of the testes and ovaries, and the differentiation of Sertoli and granulosa cells. **Clinical Significance:** 1. **Androgen Insensitivity Syndrome (AIS):** Mutations in the NR5A1 gene have been associated with AIS, a condition characterized by the inability of the body to respond to androgens. 2. **Congenital Adrenal Hyperplasia (CAH):** NR5A1 mutations have also been linked to CAH, a group of inherited disorders that affect the adrenal gland's ability to produce hormones. 3. **Reproductive System Abnormalities:** Abnormalities in NR5A1 expression have been associated with reproductive system abnormalities, including undescended testes and ovarian dysgenesis. 4. **Cancer:** NR5A1 has been implicated in the development and progression of certain cancers, including prostate cancer and breast cancer. In conclusion, the NR5A1 gene is a critical transcription factor that plays a central role in the regulation of sex determination, development, and steroid biosynthesis. Understanding the functions and clinical significance of NR5A1 can provide valuable insights into the development and treatment of various human diseases.

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 36 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 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 6 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 1 PIRSF 1 PRINTS 2 PRO 1 PROSITE 3 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 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.