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Aliases for NR5A1 Gene

Aliases for NR5A1 Gene

  • Nuclear Receptor Subfamily 5 Group A Member 1 2 3 4 5
  • Steroid Hormone Receptor Ad4BP 3 4
  • Fushi Tarazu Factor Homolog 1 3 4
  • Steroidogenic Factor 1 2 3
  • FTZF1 3 4
  • AD4BP 3 4
  • STF-1 3 4
  • HSF-1 3 4
  • SF-1 3 4
  • SF1 3 4
  • 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
  • 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 46,Xy Sex Reversal 3 and 46,Xx Sex Reversal 4. Among its related pathways are Gene Expression and Ovarian Infertility Genes. 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 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

Additional gene information for NR5A1 Gene

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

Genomics for NR5A1 Gene

GeneHancer (GH) Regulatory Elements for NR5A1 Gene

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
GH09J124502 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 668 +1.9 1890 5.9 ELF3 MLX ZFP64 ARID4B DMAP1 DNMT3B ZNF48 ZSCAN9 SLC30A9 ZNF335 NR5A1 MIR181A2HG PRPS1P2 LOC105376270
GH09J124385 Enhancer 1.6 UCNEbase Ensembl ENCODE 10.1 +120.7 120730 2.4 FOXA2 MLX ARID4B FEZF1 DMAP1 ETS1 YY1 ATF7 FOS NFKBIZ NEK6 PSMB7 ENSG00000231149 NR5A1 GC09P124378
GH09J124390 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10 +114.1 114120 6 HDGF PKNOX1 FOXA2 ARNT SIN3A GATA2 FOS RUNX3 REST TSHZ1 NEK6 PSMB7 NR5A1 ENSG00000231149 LHX2 LOC100505588 ENSG00000231227 DENND1A GC09P124378
GH09J124592 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.5 -87.3 -87288 5.4 HDGF PKNOX1 ATF1 FOXA2 MLX ARID4B DMAP1 YY1 ETS1 RXRA MIR181A2HG PRPS1P2 MIR181B2 MIR181A2 ENSG00000231149 NR5A1 GAPVD1 LOC100419284 PIR56415 NR6A1
GH09J124387 Enhancer 1.2 Ensembl ENCODE dbSUPER 10 +118.6 118558 1.9 HDGF HDAC1 PKNOX1 ARNT TCF12 ZNF766 GATA2 EGR2 ZBTB2 NCOA1 NEK6 NR5A1 ENSG00000231149 GC09P124378 PSMB7
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for NR5A1 Gene

Genomic Locations for NR5A1 Gene
chr9:124,481,232-124,507,448
(GRCh38/hg38)
Size:
26,217 bases
Orientation:
Minus strand
chr9:127,243,515-127,269,709
(GRCh37/hg19)
Size:
26,195 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

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

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:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 23610160
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding ISS --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003677 DNA binding IEA,IDA 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

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

Clone Products

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
extracellular 2
mitochondrion 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for NR5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10567391
GO:0005654 nucleoplasm TAS --
GO:0090575 RNA polymerase II transcription factor complex ISS,IBA --
genes like me logo Genes that share ontologies with NR5A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NR5A1 Gene

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with NR5A1: view

Drugs & Compounds for NR5A1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved, Investigational 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
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

Transcripts for NR5A1 Gene

mRNA/cDNA for NR5A1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NR5A1 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of NR5A1 Gene:

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(4.4)
  • Pancreas(4.1)
  • Adrenal gland(3.7)
  • Nervous system(2.1)

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

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 33
  • 99.14 (n)
dog
(Canis familiaris)
Mammalia SF1 34
  • 94 (a)
OneToOne
LOC609642 33
  • 87.87 (n)
cow
(Bos Taurus)
Mammalia NR5A1 34 33
  • 93.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nr5a1 16 34 33
  • 88.5 (n)
rat
(Rattus norvegicus)
Mammalia Nr5a1 33
  • 88.5 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 84 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
ManyToMany
chicken
(Gallus gallus)
Aves NR5A1 34 33
  • 78.71 (n)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 57 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nr5a1 33
  • 67.03 (n)
zebrafish
(Danio rerio)
Actinopterygii nr5a1b 34
  • 56 (a)
ManyToMany
nr5a1a 34
  • 56 (a)
ManyToMany
nr5a5 34
  • 42 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta ftz-f1 34 35
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhr-25 35
  • 74 (a)
nhr-8 34
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
ManyToMany
-- 34
  • 9 (a)
ManyToMany
Species where no ortholog for NR5A1 was found in the sources mined by GeneCards:
  • 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)
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 from dbSNP and Humsavar for NR5A1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs104894118 pathogenic, ADRENAL INSUFFICIENCY, NR5A1-RELATED, Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964] 124,500,196(-) C/A/T coding_sequence_variant, missense_variant
rs104894119 pathogenic, 46,XY sex reversal, type 3, 46,XX sex reversal 4, ADRENAL INSUFFICIENCY, NR5A1-RELATED, 46,XX sex reversal 4 (SRXX4) [MIM:617480], 46,XY sex reversal 3 (SRXY3) [MIM:612965], Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964] 124,500,685(-) C/T coding_sequence_variant, missense_variant
rs104894120 pathogenic, 46,XY sex reversal, type 3, 46,XY sex reversal 3 (SRXY3) [MIM:612965] 124,482,834(-) A/T coding_sequence_variant, missense_variant
rs104894123 pathogenic, 46,XY sex reversal, type 3 124,503,348(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs104894124 pathogenic, 46,XY sex reversal, type 3, 46,XY sex reversal 3 (SRXY3) [MIM:612965] 124,503,353(-) C/T coding_sequence_variant, missense_variant

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 Assay Products

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

Disorders for NR5A1 Gene

MalaCards: The human disease database

(44) MalaCards diseases for NR5A1 Gene - From: HGMD, OMIM, ClinVar, GTR, 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, ECO:0000269 PubMed:24405868, ECO:0000269 PubMed:27378692, ECO:0000269 PubMed:27490115, ECO:0000269 PubMed:28459839}. Note=The disease is caused by mutations 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 mutations 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 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.

Additional Disease Information for NR5A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (American journal of human genetics 2010) 3 4 44 58
  2. 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 22 44 58
  3. Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7. (PMID: 17901130) Lewis AE … Bakke M (Molecular endocrinology (Baltimore, Md.) 2008) 3 4 22 58
  4. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. (PMID: 17694559) Köhler B … Achermann JC (Human mutation 2008) 3 4 22 58
  5. Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17. (PMID: 17664281) Li D … Sewer MB (Molecular and cellular biology 2007) 3 4 22 58

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