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] See more...

Aliases for NR5A1 Gene

Aliases for NR5A1 Gene

  • Nuclear Receptor Subfamily 5 Group A Member 1 2 3 4 5
  • Steroidogenic Factor 1 2 3 4
  • AD4BP 2 3 4
  • HSF-1 2 3 4
  • SF-1 2 3 4
  • SF1 2 3 4
  • Steroid Hormone Receptor Ad4BP 3 4
  • Fushi Tarazu Factor Homolog 1 3 4
  • FTZF1 3 4
  • STF-1 3 4
  • FTZ1 2 3
  • ELP 2 3
  • Nuclear Receptor Subfamily 5, Group A, Member 1 2
  • Steroidogenic Factor 1 Nuclear Receptor 3
  • Adrenal 4 Binding Protein 3
  • Adrenal 4-Binding Protein 4
  • Nuclear Receptor AdBP4 3
  • Steroidogenic Factor-1 3
  • SPGF8 3
  • SRXX4 3
  • SRXY3 3
  • NR5A1 5
  • POF7 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 46,Xy Sex Reversal 3 and 46,Xx Sex Reversal 4. Among its related pathways are Nuclear Receptor transcription pathway and Developmental Biology. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is NR5A2.

UniProtKB/Swiss-Prot Summary for NR5A1 Gene

  • Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). 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 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NR5A1 Gene

Genomics for NR5A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NR5A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J124506 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 250.7 +0.1 97 2.4 MXD4 ZFP64 THAP11 RAD51 ZNF511 SAP130 ETV4 ZSCAN9 KMT2B GABPB1 HSALNG0074341 NR5A1 RF00017-7883 ADGRD2
GH09J124505 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 265.9 +1.8 1756 0.4 CTCF SAFB ZBTB33 KDM1A GMEB1 HNRNPL EZH2 BACH1 NR5A1 RF00017-7883 ADGRD2
GH09J124591 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -86.7 -86657 6.7 TBP CEBPA MNT ETS1 BHLHE40 HOMEZ ZNF395 REST GTF2E2 FOXA2 HSALNG0074350 PRPS1P2 MIR181A2HG GAPVD1 GOLGA1 MIR181A2 MIR181B2 ENSG00000231149 NR5A1 lnc-NR5A1-4
GH09J124385 Promoter/Enhancer 1.6 UCNEbase Ensembl ENCODE 10.1 +120.7 120702 2.4 MXD4 FEZF1 CEBPA FOXA1 CTCF HOMEZ KDM6A THAP11 FOXA2 ZNF511 NEK6 PSMB7 ENSG00000231149 NR5A1 lnc-NR5A1-6 lnc-NR5A1-2 RF00017-7882
GH09J124390 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10 +114.1 114092 6 MXD4 CEBPA IKZF1 CTCF BHLHE40 THAP11 ARNT GABPA FOXA2 MAFF NEK6 PSMB7 NR5A1 ENSG00000231149 LHX2 ENSG00000231227 LOC100505588 DENND1A lnc-NR5A1-6 lnc-NR5A1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NR5A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR5A1

Top Transcription factor binding sites by QIAGEN in the NR5A1 gene promoter:
  • AP-2alpha
  • CREB
  • deltaCREB
  • GATA-1
  • GATA-2
  • GATA-3
  • GR
  • GR-alpha

Genomic Locations for NR5A1 Gene

Latest Assembly
chr9:124,481,236-124,507,420
(GRCh38/hg38)
Size:
26,185 bases
Orientation:
Minus strand

Previous Assembly
chr9:127,243,515-127,269,678
(GRCh37/hg19 by Entrez Gene)
Size:
26,164 bases
Orientation:
Minus strand

chr9:127,243,516-127,269,709
(GRCh37/hg19 by Ensembl)
Size:
26,194 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

Post-translational modifications for NR5A1 Gene

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

Other Protein References for NR5A1 Gene

Antibodies for research

No data available for DME Specific Peptides for NR5A1 Gene

Domains & Families for NR5A1 Gene

Gene Families for NR5A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NR5A1 Gene

InterPro:
Blocks:
  • Steroid hormone receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for NR5A1 Gene

GenScript: Design optimal peptide antigens:
  • Steroidogenic factor-1 (B6ZGU8_HUMAN)
  • Steroidogenic factor 1 nuclear receptor (F1D8R8_HUMAN)
  • Steroidogenic factor 1 nuclear receptor (F1DAM0_HUMAN)
  • Nuclear receptor subfamily 5, group A, member 1 (Q5T6F7_HUMAN)
  • Steroid hormone receptor Ad4BP (STF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13285

UniProtKB/Swiss-Prot:

STF1_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR5 subfamily.
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

UniProtKB/Swiss-Prot Function:
Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). 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 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. 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.
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

Phenotypes From GWAS Catalog for NR5A1 Gene

Gene Ontology (GO) - Molecular Function for NR5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 23610160
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,ISA --
GO:0003677 DNA binding IEA,IDA 10567391
GO:0003682 chromatin binding ISS --
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:

miRNA for NR5A1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR5A1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR5A1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NR5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IDA 10567391
GO:0005654 nucleoplasm IDA,TAS --
GO:0005829 cytosol IDA --
GO:0090575 RNA polymerase II transcription factor complex 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

Pathways by source for NR5A1 Gene

2 KEGG pathways for NR5A1 Gene
1 GeneGo (Thomson Reuters) pathway for NR5A1 Gene
  • Development Role of Activin A in cell differentiation and proliferation

SIGNOR curated interactions for NR5A1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for NR5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001553 luteinization IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA,IBA 21873635
GO:0006366 transcription by RNA polymerase II IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with NR5A1: view

Drugs & Compounds for NR5A1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved, Experimental Pharma 0
cyclic amp 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
AC 45594 Pharma Inverse agonist of SF-1 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5
Cytosporone B
321661-62-5
IP7e
500164-74-9
SI-2 hydrochloride

(3) Tocris Compounds for NR5A1 Gene

Compound Action Cas Number
Cytosporone B High affinity Nur77 agonist 321661-62-5
IP7e Potent Nurr1 activator 500164-74-9
SI-2 hydrochloride Steroid receptor coactivator 3 (SRC-3) inhibitor

(3) ApexBio Compounds for NR5A1 Gene

Compound Action Cas Number
AC 45594 Inverse agonist of SF-1 13037-86-0
DLPC LRH-1 agonist ligand 18194-25-7
SID 7969543 868224-64-0
genes like me logo Genes that share compounds with NR5A1: view

Drug products for research

Transcripts for NR5A1 Gene

mRNA/cDNA for NR5A1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR5A1

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

Expression for NR5A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for NR5A1 Gene



Protein tissue co-expression partners for NR5A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR5A1

SOURCE GeneReport for Unigene cluster for NR5A1 Gene:

Hs.495108

mRNA Expression by UniProt/SwissProt for NR5A1 Gene:

Q13285-STF1_HUMAN
Tissue specificity: High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed:9177385).

Evidence on tissue expression from TISSUES for NR5A1 Gene

  • Spleen(4.5)
  • Pancreas(4.3)
  • Adrenal gland(3.6)
  • Nervous system(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NR5A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NR5A1: view

Primer products for research

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 30
  • 99.14 (n)
Dog
(Canis familiaris)
Mammalia SF1 31
  • 94 (a)
OneToOne
LOC609642 30
  • 87.87 (n)
Cow
(Bos Taurus)
Mammalia NR5A1 30 31
  • 93.06 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nr5a1 30 17 31
  • 88.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nr5a1 30
  • 88.5 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 84 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves NR5A1 30 31
  • 78.71 (n)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 57 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nr5a1 30
  • 67.03 (n)
Zebrafish
(Danio rerio)
Actinopterygii nr5a1b 31
  • 56 (a)
ManyToMany
nr5a1a 31
  • 56 (a)
ManyToMany
nr5a5 31
  • 42 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta ftz-f1 31 32
  • 18 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea nhr-25 32
  • 74 (a)
nhr-8 31
  • 13 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
ManyToMany
-- 31
  • 9 (a)
ManyToMany
Species where no ortholog for NR5A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NR5A1: view image

Paralogs for NR5A1 Gene

Paralogs for NR5A1 Gene

(50) SIMAP similar genes for NR5A1 Gene using alignment to 7 proteins:

  • STF1_HUMAN
  • B6ZGU8_HUMAN
  • F1D8R8_HUMAN
  • F1DAM0_HUMAN
  • L8ECB8_HUMAN
  • Q5T6F6_HUMAN
  • Q5T6F7_HUMAN
genes like me logo Genes that share paralogs with NR5A1: view

Variants for NR5A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR5A1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
846546 Uncertain Significance: Oligosynaptic infertility; 46,XY sex reversal, type 3 124,482,837(-) T/C
NM_004959.5(NR5A1):c.1307A>G (p.Tyr436Cys)
MISSENSE
851632 Pathogenic/Likely Pathogenic: Oligosynaptic infertility; 46,XY sex reversal, type 3; not provided 124,503,188(-) CTTG/C
NM_004959.5(NR5A1):c.129_131CAA[1] (p.Asn44del)
INFRAME_DELETION
935575 Uncertain Significance: Oligosynaptic infertility; 46,XY sex reversal, type 3 124,503,104(-) G/C
NM_004959.5(NR5A1):c.219C>G (p.Cys73Trp)
MISSENSE
941517 Uncertain Significance: Oligosynaptic infertility; 46,XY sex reversal, type 3 124,491,076(-) C/T
NM_004959.5(NR5A1):c.1138+5G>A
INTRON
958009 Likely Pathogenic: Oligosynaptic infertility; 46,XY sex reversal, type 3 124,493,038(-) C/T
NM_004959.5(NR5A1):c.982G>A (p.Gly328Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NR5A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3621722 CNV gain 21293372
nsv1076204 CNV deletion 25765185
nsv466558 CNV loss 19166990
nsv466559 CNV loss 19166990
nsv517372 CNV loss 19592680
nsv526209 CNV gain 19592680
nsv615291 CNV loss 21841781
nsv615292 CNV loss 21841781
nsv950942 CNV deletion 24416366

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)

Additional Variant Information for NR5A1 Gene

Human Gene Mutation Database (HGMD)
NR5A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR5A1

SNP Genotyping and Copy Number Assays for research

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

Disorders for NR5A1 Gene

MalaCards: The human disease database

(70) MalaCards diseases for NR5A1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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, ECO:0000269 PubMed:24405868, ECO:0000269 PubMed:27378692, ECO:0000269 PubMed:27490115, ECO:0000269 PubMed:28459839}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • 46,XX sex reversal 4 (SRXX4) [MIM:617480]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269 PubMed:27378692, ECO:0000269 PubMed:27490115, ECO:0000269 PubMed:27610946, ECO:0000269 PubMed:27855412}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964]: A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. {ECO:0000269 PubMed:11038323, ECO:0000269 PubMed:26523528}. Note=The disease is caused by variants 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for NR5A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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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 (American journal of human genetics 2010) 3 4 41 74
  2. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. (PMID: 11932325) Achermann JC … Jameson JL (The Journal of clinical endocrinology and metabolism 2002) 3 4 23 74
  3. A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. (PMID: 27855412) Swartz JM … Hirschhorn JN (Hormone research in paediatrics 2017) 3 4 74
  4. Mutations in NR5A1 associated with ovarian insufficiency. (PMID: 19246354) Lourenço D … Bashamboo A (The New England journal of medicine 2009) 3 4 74
  5. The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. (PMID: 19439508) Köhler B … Achermann JC (European journal of endocrinology 2009) 3 23 41

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Sources for NR5A1 Gene