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Aliases for NR5A1 Gene

Aliases for NR5A1 Gene

  • Nuclear Receptor Subfamily 5, Group A, Member 1 2 3
  • FTZF1 3 4 6
  • AD4BP 3 4 6
  • SF1 3 4 6
  • Steroid Hormone Receptor Ad4BP 3 4
  • Fushi Tarazu Factor Homolog 1 3 4
  • Adrenal 4-Binding Protein 3 4
  • SPGF8 3 6
  • SRXY3 3 6
  • STF-1 3 4
  • FTZ1 3 6
  • POF7 3 6
  • SF-1 3 4
  • Nuclear Receptor Subfamily 5 Group A Member 1 4
  • Steroidogenic Factor 1 Nuclear Receptor 3
  • Adrenal 4 Binding Protein 3
  • Nuclear Receptor AdBP4 3
  • Steroidogenic Factor 1 3
  • Steroidogenic Factor-1 3
  • ELP 3

External Ids for NR5A1 Gene

Previous Symbols for NR5A1 Gene

  • FTZF1

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 adrenocortical insufficiency, without ovarian defect and 46xy sex reversal 3. Among its related pathways are Oct4 in Mammalian ESC Pluripotency and Wnt signaling pathway (KEGG). GO annotations related to this gene include sequence-specific DNA binding and phospholipid binding. An important paralog of this gene is NR6A1.

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.

Gene Wiki entry for NR5A1 Gene

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

Genomics for NR5A1 Gene

Genomic Location for NR5A1 Gene

Start:
124,481,232 bp from pter
End:
124,507,487 bp from pter
Size:
26,256 bases
Orientation:
Minus strand

Genomic View for NR5A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NR5A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR5A1 Gene

Regulatory Elements 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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NR5A1 Gene

Domains for NR5A1 Gene

Gene Families for NR5A1 Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

UniProtKB/Swiss-Prot:

STF1_HUMAN
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.:
    • Q13285
Family:
  • Belongs to the nuclear hormone receptor family. NR5 subfamily.:
    • Q13285
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:0003677 DNA binding IDA 10567391
GO:0003682 chromatin binding IEA --
GO:0003690 double-stranded DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA 21412441
genes like me logo Genes that share ontologies with NR5A1: view
genes like me logo Genes that share phenotypes with NR5A1: view

Animal Models for NR5A1 Gene

MGI Knock Outs for NR5A1:

miRNA for NR5A1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription 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
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NR5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10567391
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with NR5A1: view

Pathways for NR5A1 Gene

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

Pathways by source for NR5A1 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for NR5A1 Gene
1 Qiagen pathway for NR5A1 Gene

Gene Ontology (GO) - Biological Process for NR5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001553 luteinization IEA --
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0006366 transcription from RNA polymerase II promoter --
genes like me logo Genes that share ontologies with NR5A1: view

Compounds for NR5A1 Gene

(5) Tocris Compounds for NR5A1 Gene

Compound Action Cas Number
GC 1 High affinity thyroid receptor alpha (TRalpha) and TRbeta agonist; thyromimetic [211110-63-3]
GSK 4112 Selective Rev-Erbalpha agonist [1216744-19-2]
Guggulsterone Broad spectrum steroid receptor ligand. Antagonizes FXR and displays hypolipidemic activity [95975-55-6]
SR 8278 Rev-Erbalpha antagonist [1254944-66-5]
Z-Guggulsterone Broad spectrum steroid receptor ligand. More active isomer of guggulsterone (Cat. No. 2013) [39025-23-5]

(3) HMDB Compounds for NR5A1 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4
Potassium
  • K+
7440-09-7
Sodium
  • Sodium
7440-23-5

(2) Drugbank Compounds for NR5A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE
target
Phosphatidyl ethanol
  • (2S)-2-[(9E)-HEXADEC-9-ENOYLOXY]-3-{[HYDROXY(2-HYDROXYETHOXY)PHOSPHORYL]OXY}PROPYL (9E)-OCTADEC-9-ENOATE
target

(49) Novoseek inferred chemical compound relationships for NR5A1 Gene

Compound -log(P) Hits PubMed IDs
ptx1 84 22
3beta-hydroxysteroid 74.8 10
steroid 74.4 65
acth 64 25
dmrt 61.2 1
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 (22.7), Spleen (20.6), and Ovary (4.7).

Integrated Proteomics: protein expression 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 expressions with NR5A1: view

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 36
  • 99.14 (n)
  • 99.3 (a)
cow
(Bos Taurus)
Mammalia NR5A1 36
  • 93.06 (n)
  • 95.01 (a)
NR5A1 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC609642 36
  • 87.87 (n)
  • 90.13 (a)
SF1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr5a1 36
  • 88.5 (n)
  • 93.71 (a)
Nr5a1 16
Nr5a1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 84 (a)
ManyToMany
-- 37
  • 30 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 74 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Nr5a1 36
  • 88.5 (n)
  • 93.93 (a)
chicken
(Gallus gallus)
Aves NR5A1 36
  • 78.71 (n)
  • 75.33 (a)
NR5A1 37
  • 74 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 57 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nr5a1 36
  • 67.03 (n)
  • 70.33 (a)
zebrafish
(Danio rerio)
Actinopterygii nr5a1a 37
  • 56 (a)
ManyToMany
nr5a1b 37
  • 56 (a)
ManyToMany
nr5a5 37
  • 42 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta ftz-f1 37
  • 18 (a)
OneToMany
ftz-f1 38
  • 70 (a)
worm
(Caenorhabditis elegans)
Secernentea nhr-8 37
  • 13 (a)
ManyToMany
nhr-25 38
  • 74 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 21 (a)
ManyToMany
-- 37
  • 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 MAF
rs873459 -- 124,495,278(-) CTTCC(A/G)AGGAG intron-variant
rs915032 -- 124,483,403(-) GGGAC(C/G)GAGAG intron-variant
rs915033 -- 124,483,279(-) ACTGT(C/G)GTTGG intron-variant
rs915034 -- 124,482,676(-) GGCTC(C/T)GCATG utr-variant-3-prime, downstream-variant-500B
rs928547 -- 124,502,234(+) GCACC(A/G)ATCCC intron-variant

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

Relevant External Links for NR5A1 Gene

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

Disorders for NR5A1 Gene

(3) OMIM Diseases for NR5A1 Gene (184757)

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.

(42) Novoseek inferred disease relationships for NR5A1 Gene

Disease -log(P) Hits PubMed IDs
adrenal hypoplasia, congenital 85.1 4
addisons disease 81.8 12
lipoid congenital adrenal hyperplasia 73.9 1
adenoma adrenocortical 72.8 6
gonadal agenesis 71.6 4

Relevant External Links for NR5A1

GeneTests
NR5A1
GeneReviews
NR5A1
Genetic Association Database (GAD)
NR5A1
Human Genome Epidemiology (HuGE) Navigator
NR5A1
genes like me logo Genes that share disorders with NR5A1: view

Publications for NR5A1 Gene

  1. Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. (PMID: 11038323) Biason-Lauber A. … Schoenle E.J. (Am. J. Hum. Genet. 2000) 3 4 23
  2. Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress. (PMID: 10230405) Hammer G.D. … Ingraham H.A. (Mol. Cell 1999) 3 4 23
  3. Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5. (PMID: 11479297) Jacob A.L. … Hedin L. (J. Biol. Chem. 2001) 3 4 23
  4. Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. (PMID: 15707893) Krylova I.N. … Ingraham H.A. (Cell 2005) 3 4 23
  5. The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. (PMID: 15897460) Wang W. … West B.L. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23

Products for NR5A1 Gene

Sources for NR5A1 Gene

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