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Aliases for NR5A1 Gene

Aliases for NR5A1 Gene

  • Nuclear Receptor Subfamily 5 Group A Member 1 2 3 4 5
  • Nuclear Receptor Subfamily 5, Group A, Member 1 2 3
  • Steroid Hormone Receptor Ad4BP 3 4
  • Fushi Tarazu Factor Homolog 1 3 4
  • Adrenal 4-Binding Protein 3 4
  • FTZF1 3 4
  • AD4BP 3 4
  • STF-1 3 4
  • SF-1 3 4
  • SF1 3 4
  • Steroidogenic Factor 1 Nuclear Receptor 3
  • Adrenal 4 Binding Protein 3
  • Steroidogenic Factor 1 2
  • Nuclear Receptor AdBP4 3
  • Steroidogenic Factor-1 3
  • SPGF8 3
  • SRXY3 3
  • HSF-1 3
  • FTZ1 3
  • POF7 3
  • ELP 3

External Ids for NR5A1 Gene

Previous HGNC Symbols for NR5A1 Gene

  • FTZF1

Previous GeneCards Identifiers for NR5A1 Gene

  • GC09M118359
  • GC09M118890
  • GC09M120697
  • GC09M122619
  • GC09M124323
  • GC09M126283
  • GC09M127243
  • GC09M096856

Summaries for NR5A1 Gene

Entrez Gene Summary for NR5A1 Gene

  • The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]

GeneCards Summary for NR5A1 Gene

NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1) is a Protein Coding gene. Diseases associated with NR5A1 include spermatogenic failure 8 and 46xy sex reversal 3. Among its related pathways are Gene Expression and Developmental Biology. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is AR.

UniProtKB/Swiss-Prot for NR5A1 Gene

  • Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5-YCAAGGYC-3 and 5-RRAGGTCA-3 are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation.

Tocris Summary for NR5A1 Gene

Gene Wiki entry for NR5A1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR5A1 Gene

Genomics for NR5A1 Gene

Regulatory Elements for NR5A1 Gene

Promoters for NR5A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NR5A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NR5A1 Gene

Chromosome:
9
Start:
124,481,232 bp from pter
End:
124,507,448 bp from pter
Size:
26,217 bases
Orientation:
Minus strand

Genomic View for NR5A1 Gene

Genes around NR5A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR5A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR5A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR5A1 Gene

Proteins for NR5A1 Gene

  • Protein details for NR5A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13285-STF1_HUMAN
    Recommended name:
    Steroidogenic factor 1
    Protein Accession:
    Q13285
    Secondary Accessions:
    • O15196
    • Q5T6F5

    Protein attributes for NR5A1 Gene

    Size:
    461 amino acids
    Molecular mass:
    51636 Da
    Quaternary structure:
    • Binds DNA as a monomer. Interacts with NR0B2 and PPARGC1A (By similarity). Part of a complex consisting of SFPQ, NONO and NR5A1. Interacts with NCOA2. Interacts with DGKQ and CDK7. Binds to and activated by HIPK3.

    Three dimensional structures from OCA and Proteopedia for NR5A1 Gene

neXtProt entry for NR5A1 Gene

Proteomics data for NR5A1 Gene at MOPED

Post-translational modifications for NR5A1 Gene

  • Acetylation stimulates the transcriptional activity.
  • Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity.
  • Sumoylation reduces CDK7-mediated phosophorylation on Ser-203.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR5A1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NR5A1 (STF-1)

No data available for DME Specific Peptides for NR5A1 Gene

Domains & Families for NR5A1 Gene

Gene Families for NR5A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13285

UniProtKB/Swiss-Prot:

STF1_HUMAN :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR5 subfamily.
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR5 subfamily.
genes like me logo Genes that share domains with NR5A1: view

Function for NR5A1 Gene

Molecular function for NR5A1 Gene

GENATLAS Biochemistry:
nuclear receptor subfamily 5,group A,member 1,involved in adrenocortical and gonadal development,associating with WT1 for regulating AMH expression,controlling the transcription of NR0B1,steroid/thyroid hormone receptor,superfamily
UniProtKB/Swiss-Prot Function:
Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5-YCAAGGYC-3 and 5-RRAGGTCA-3 are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation.

Gene Ontology (GO) - Molecular Function for NR5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA,ISS --
GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding TAS 8205615
GO:0005515 protein binding IEA,IPI 10567391
genes like me logo Genes that share ontologies with NR5A1: view
genes like me logo Genes that share phenotypes with NR5A1: view

Human Phenotype Ontology for NR5A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NR5A1 Gene

MGI Knock Outs for NR5A1:

Animal Model Products

CRISPR Products

Targeted motifs for NR5A1 Gene
HOMER Transcription Factor Regulatory Elements motif NR5A1
  • Consensus sequence: CAAGGHCANV Submotif: canonical Cell Type: H295R GEO ID: GSE44220

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for NR5A1 Gene

Localization for NR5A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR5A1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NR5A1 Gene COMPARTMENTS Subcellular localization image for NR5A1 gene
Compartment Confidence
nucleus 5
extracellular 2
mitochondrion 2
cytoskeleton 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NR5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090575 RNA polymerase II transcription factor complex IEA,ISS --
genes like me logo Genes that share ontologies with NR5A1: view

Pathways & Interactions for NR5A1 Gene

genes like me logo Genes that share pathways with NR5A1: view

SIGNOR curated interactions for NR5A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NR5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001553 luteinization IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007267 cell-cell signaling TAS 10369247
GO:0010259 multicellular organism aging IEA --
genes like me logo Genes that share ontologies with NR5A1: view

Drugs & Compounds for NR5A1 Gene

(27) Drugs for NR5A1 Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
Potassium Experimental Pharma 0
(2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE Experimental Pharma Target 0
Phosphatidyl ethanol Experimental Pharma Target 0

(30) Additional Compounds for NR5A1 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
AC 45594
13037-86-0
Cytosporone B
321661-62-5
DLPC
18194-25-7
GC 1
211110-63-3
genes like me logo Genes that share compounds with NR5A1: view

Transcripts for NR5A1 Gene

Unigene Clusters for NR5A1 Gene

Nuclear receptor subfamily 5, group A, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NR5A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11
SP1: -
SP2: - - - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for NR5A1 Gene

GeneLoc Exon Structure for
NR5A1
ECgene alternative splicing isoforms for
NR5A1

Expression for NR5A1 Gene

mRNA expression in normal human tissues for NR5A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NR5A1 Gene

This gene is overexpressed in Adrenal Gland (x22.7), Spleen (x20.6), and Ovary (x4.7).

Protein differential expression in normal tissues from HIPED for NR5A1 Gene

This gene is overexpressed in Cervix (50.1) and Islet of Langerhans (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NR5A1 Gene



SOURCE GeneReport for Unigene cluster for NR5A1 Gene Hs.495108

genes like me logo Genes that share expression patterns with NR5A1: view

Protein tissue co-expression partners for NR5A1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NR5A1 Gene

Orthologs for NR5A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR5A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR5A1 35
  • 99.14 (n)
  • 99.3 (a)
cow
(Bos Taurus)
Mammalia NR5A1 35
  • 93.06 (n)
  • 95.01 (a)
NR5A1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC609642 35
  • 87.87 (n)
  • 90.13 (a)
SF1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr5a1 16
Nr5a1 35
  • 88.5 (n)
  • 93.71 (a)
Nr5a1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Nr5a1 35
  • 88.5 (n)
  • 93.93 (a)
chicken
(Gallus gallus)
Aves NR5A1 35
  • 78.71 (n)
  • 75.33 (a)
NR5A1 36
  • 74 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 57 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nr5a1 35
  • 67.03 (n)
  • 70.33 (a)
zebrafish
(Danio rerio)
Actinopterygii nr5a1a 36
  • 56 (a)
ManyToMany
nr5a1b 36
  • 56 (a)
ManyToMany
nr5a5 36
  • 42 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta ftz-f1 37
  • 70 (a)
ftz-f1 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhr-25 37
  • 74 (a)
nhr-8 36
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
ManyToMany
-- 36
  • 9 (a)
ManyToMany
Species with no ortholog for NR5A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NR5A1 Gene

ENSEMBL:
Gene Tree for NR5A1 (if available)
TreeFam:
Gene Tree for NR5A1 (if available)

Paralogs for NR5A1 Gene

Paralogs for NR5A1 Gene

genes like me logo Genes that share paralogs with NR5A1: view

Variants for NR5A1 Gene

Sequence variations from dbSNP and Humsavar for NR5A1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_004737 46,XY sex reversal 3 (SRXY3)
VAR_016982 46,XY sex reversal 3 (SRXY3)
VAR_016983 Adrenocortical insufficiency, without ovarian defect (ACIWOD)
VAR_039106 46,XY sex reversal 3 (SRXY3)
VAR_039107 46,XY sex reversal 3 (SRXY3)

Structural Variations from Database of Genomic Variants (DGV) for NR5A1 Gene

Variant ID Type Subtype PubMed ID
nsv893834 CNV Loss 21882294
nsv466558 CNV Loss 19166990
nsv893835 CNV Loss 21882294
nsv517372 CNV Loss 19592680
nsv466559 CNV Loss 19166990
nsv893836 CNV Loss 21882294
nsv526209 CNV Gain 19592680

Variation tolerance for NR5A1 Gene

Residual Variation Intolerance Score: 15.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 18.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NR5A1 Gene

HapMap Linkage Disequilibrium report
NR5A1
Human Gene Mutation Database (HGMD)
NR5A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR5A1 Gene

Disorders for NR5A1 Gene

MalaCards: The human disease database

(39) MalaCards diseases for NR5A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NR5A1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STF1_HUMAN
  • 46,XY sex reversal 3 (SRXY3) [MIM:612965]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. {ECO:0000269 PubMed:10369247, ECO:0000269 PubMed:11932325, ECO:0000269 PubMed:17200175, ECO:0000269 PubMed:17694559}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Adrenocortical insufficiency, without ovarian defect (ACIWOD) [MIM:184757]: A disorder that is characterized by severe slackness, muscular hypotonia. There is decreased sodium, increased potassium and elevated ACTH. {ECO:0000269 PubMed:11038323}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Premature ovarian failure 7 (POF7) [MIM:612964]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:19246354}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spermatogenic failure 8 (SPGF8) [MIM:613957]: An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia. {ECO:0000269 PubMed:20887963}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NR5A1

Genetic Association Database (GAD)
NR5A1
Human Genome Epidemiology (HuGE) Navigator
NR5A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR5A1
genes like me logo Genes that share disorders with NR5A1: view

No data available for Genatlas for NR5A1 Gene

Publications for NR5A1 Gene

  1. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. (PMID: 20887963) Bashamboo A. … McElreavey K. (Am. J. Hum. Genet. 2010) 3 4 48 67
  2. Steroidogenic factor-1 expression in ovarian endometriosis. (PMID: 19875956) NoAl J.C. … Chapron C. (Appl. Immunohistochem. Mol. Morphol. 2010) 3 23
  3. Human steroidogenic factor-1 (hSF-1) regulates progesterone biosynthesis and growth of ovarian surface epithelial cancer cells. (PMID: 20045459) Ramayya M.S. … Rowan B.G. (J. Steroid Biochem. Mol. Biol. 2010) 3 23
  4. Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults. (PMID: 20080844) Almeida M.Q. … Latronico A.C. (J. Clin. Endocrinol. Metab. 2010) 3 23
  5. PPAR-gamma coactivator-1alpha regulates progesterone production in ovarian granulosa cells with SF-1 and LRH-1. (PMID: 20133449) Yazawa T. … Miyamoto K. (Mol. Endocrinol. 2010) 3 23

Products for NR5A1 Gene

Sources for NR5A1 Gene

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