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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NR5A1 Gene

protein-coding   GIFtS: 69
GCID: GC09M127243

Nuclear Receptor Subfamily 5, Group A, Member 1


(Previous symbol: FTZF1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nuclear Receptor Subfamily 5, Group A, Member 11 2     POF72 5
FTZF11 2 3 5     ELP2
AD4BP2 3 5     SPGF82
SF12 3 5     SRXY32
Adrenal 4-Binding Protein2 3     Adrenal 4 Binding Protein2
Fushi Tarazu Factor Homolog 12 3     Nuclear Receptor AdBP42
Steroid Hormone Receptor Ad4BP2 3     Steroidogenic Factor 12
SF-12 3     Steroidogenic Factor 1 Nuclear Receptor2
STF-12 3     Steroidogenic Factor-12
FTZ12 5     Nuclear Receptor Subfamily 5 Group A Member 13

External Ids:    HGNC: 79831   Entrez Gene: 25162   Ensembl: ENSG000001369317   OMIM: 1847575   UniProtKB: Q132853   

Export aliases for NR5A1 gene to outside databases

Previous GC identifers: GC09M118359 GC09M118890 GC09M120697 GC09M122619 GC09M124323 GC09M126283 GC09M096856


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 acute adrenal insufficiency, and 46 xx gonadal dysgenesis, and among its related super-pathways are Nuclear Receptors and Gene Expression. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding. An important paralog of this gene is NR5A2.

UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285
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 Wiki entry for NR5A1 (Steroidogenic factor 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NR5A1 gene promoter:
         GR   CREB   GATA-3   deltaCREB   GR-alpha   AP-2alpha   GATA-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNR5A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NR5A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NR5A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q33   Ensembl cytogenetic band:  9q33.3   HGNC cytogenetic band: 9q33

NR5A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR5A1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M127243:  view genomic region     (about GC identifiers)

Start:
127,243,515 bp from pter      End:
127,269,709 bp from pter
Size:
26,195 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285 (See protein sequence)
Recommended Name: Steroidogenic factor 1  
Size: 461 amino acids; 51636 Da
Subunit: 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
Subcellular location: Nucleus
2 PDB 3D structures from and Proteopedia for NR5A1:
1YOW (3D)        1ZDT (3D)    
Secondary accessions: O15196 Q5T6F5

Explore the universe of human proteins at neXtProt for NR5A1: NX_Q13285

Explore proteomics data for NR5A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Acetylation stimulates the transcriptional activity
  • UniProtKB: Sumoylation reduces CDK7-mediated phosophorylation on Ser-203
  • UniProtKB: Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13285

  • NR5A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NR5A1 Protein Expression
    REFSEQ proteins: NP_004950.2  
    ENSEMBL proteins: 
     ENSP00000362690   ENSP00000362689   ENSP00000393245  
    Reactome Protein details: Q13285
    Human Recombinant Protein Products for NR5A1: 
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    OriGene Protein Over-expression Lysate for NR5A1
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    Novus Biologicals NR5A1 Protein
    Novus Biologicals NR5A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10567391
    GO:0005654nucleoplasm TAS--

    NR5A1 for ontologies           About GeneDecksing



    NR5A1 Antibody Products: 
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    Novus Biologicals NR5A1 Antibodies
    Abcam antibodies for NR5A1
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    LSBio Antibodies in human, mouse, rat for NR5A1 

    Assay Products for NR5A1: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    NR: Nuclear hormone receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Steroidogenic factor 1 
    5A. Fushi tarazu F1-like receptors

    5/6 InterPro protein domains (see all 6):
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR001723 Str_hrmn_rcpt
     IPR013088 Znf_NHR/GATA
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001628 Znf_hrmn_rcpt

    Graphical View of Domain Structure for InterPro Entry Q13285

    ProtoNet protein and cluster: Q13285

    1 Blocks protein domain: IPB001723 Steroid hormone receptor signature

    UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285
    Similarity: Belongs to the nuclear hormone receptor family. NR5 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    NR5A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STF1_HUMAN, Q13285
    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

         Genatlas biochemistry entry for NR5A1:
    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

         Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA10567391
    GO:0003682chromatin binding IEA--
    GO:0003690double-stranded DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA--
         
    NR5A1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NR5A1:
     Increased cell death HMECs cel  Synthetic lethal with Ras 

         11 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Nr5a1):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  mortality/aging  nervous system  normal 
     reproductive system 

    NR5A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NR5A1: Nr5a1tm2.1Klp Nr5a1tm1Enl Nr5a1tm3Klp Nr5a1tm1Klp Nr5a1tm1Jmi

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NR5A1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NR5A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NR5A1 

    miRNA
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    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate NR5A1 (see all 19):
    hsa-miR-3678-3p hsa-miR-676 hsa-miR-1285 hsa-miR-486-3p hsa-miR-4260 hsa-miR-193a-5p hsa-miR-24 hsa-miR-3909
    SwitchGear 3'UTR luciferase reporter plasmidNR5A1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: NR5A1 (NM_004959)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NR5A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NR5A1
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                         Customized lentivirus expression plasmids for stable overexpression of NR5A1 

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR5A1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NR5A1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.68
    Nuclear Receptors0.68
    2Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    3Wnt signaling pathway
    Wnt Signaling Pathway NetPath0.37
    4PKA activation in glucagon signalling
    Development Role of Activin A in cell differentiation and proliferation0.33
    5Transcription factors in neurogenesis
    Transcription factors in neurogenesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for NR5A1
        Development Role of Activin A in cell differentiation and proliferation
    Transcription factors in neurogenesis


    1 GeneGo (Thomson Reuters) Pathway for NR5A1
        Development Role of Activin A in cell differentiation and proliferation

    3 BioSystems Pathways for NR5A1
        Nuclear Receptors
    Wnt Signaling Pathway NetPath
    Ovarian Infertility Genes

    3        Reactome Pathways for NR5A1
        Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Gene Expression



    NR5A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NR5A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/69 Interacting proteins for NR5A1 (Q132852, 3 ENSP000003626904) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PNRC2Q9NPJ42, 3, ENSP000003348404MINT-15668 MINT-15669 I2D: score=2 STRING: ENSP00000334840
    FYNP062412, 3, ENSP000003576564MINT-8111571 I2D: score=3 STRING: ENSP00000357656
    PIK3R1P279862, 3, ENSP000002743354MINT-8112291 I2D: score=3 STRING: ENSP00000274335
    TBX19O608063, ENSP000003567954I2D: score=3 STRING: ENSP00000356795
    CRKP461083, ENSP000003005744I2D: score=2 STRING: ENSP00000300574
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001553luteinization IEA--
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006366transcription from RNA polymerase II promoter ----

    NR5A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NR5A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for NR5A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GC 1High affinity thyroid receptor alpha (TRalpha) and TRbeta agonist; thyromimetic[211110-63-3]
    SR 8278Rev-Erbalpha antagonist[1254944-66-5]
    Z-GuggulsteroneBroad spectrum steroid receptor ligand. More active isomer of guggulsterone (Cat. No. 2013)[39025-23-5]
    GSK 4112Selective Rev-Erbalpha agonist[1216744-19-2]
    GuggulsteroneBroad spectrum steroid receptor ligand. Antagonizes FXR and displays hypolipidemic activity[95975-55-6]

    3 HMDB Compounds for NR5A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    PotassiumK+ (see all 16)7440-09-7--
    SodiumSodium (see all 2)7440-23-5--

    2 DrugBank Compounds for NR5A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE-- --target--10592235
    Phosphatidyl ethanol(2S)-2-[(9E)-HEXADEC-9-ENOYLOXY]-3-{[HYDROXY(2-HYDROXYETHOXY)PHOSPHORYL]OXY}PROPYL (9E)-OCTADEC-9-ENOATE (see all 2)--target----

    10/49 Novoseek inferred chemical compound relationships for NR5A1 gene (see all 49)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ptx1 84 31 12915995 (6), 10369682 (4), 10082522 (3), 12700240 (3) (see all 9)
    3beta-hydroxysteroid 74.8 15 7639190 (2), 10221587 (1), 9503472 (1), 12658635 (1) (see all 9)
    steroid 74.4 99 8395654 (3), 1732738 (2), 17761949 (2), 9580943 (2) (see all 57)
    acth 64 42 18228160 (2), 9636648 (2), 11241179 (2), 17664281 (2) (see all 20)
    dmrt 61.2 1 16868052 (1)
    estrogen 54.1 36 10894149 (2), 9792676 (1), 10593363 (1), 11756570 (1) (see all 23)
    estrone 53.2 2 12770728 (1)
    testosterone 52.1 32 20302644 (5), 18559914 (2), 16728492 (2), 17975261 (2) (see all 15)
    17beta-hydroxysteroid 50 8 18590202 (1), 18957495 (1), 11479137 (1)
    progesterone 46.4 16 10098511 (3), 10221587 (2), 20045459 (2), 9503472 (1) (see all 10)

    Search CenterWatch for drugs/clinical trials and news about NR5A1 / STF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for NR5A1 gene: 
    NM_004959.4  

    Unigene Cluster for NR5A1:

    Nuclear receptor subfamily 5, group A, member 1
    Hs.495108  [show with all ESTs]
    Unigene Representative Sequence: BC032501
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373588(uc022bnh.1 uc004boo.1) ENST00000373587 ENST00000455734

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NR5A1

    Additional mRNA sequence: 

    AB307718.1 BC032501.1 HQ692856.1 HQ709184.1 U76388.1 

    5 DOTS entries:

    DT.100025887  DT.100025888  DT.97790735  DT.121187645  DT.426015 

    24/35 AceView cDNA sequences (see all 35):

    BX089228 AL040513 U76388 AA582053 AK090858 AX746651 BQ651118 BI833114 
    BC032501 BQ646426 NM_004959 BQ709205 BI835112 BM804762 BF969543 BF968355 
    AW297950 AI239552 AL040512 AI125719 AW183945 BQ712393 BQ644833 BG721096 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NR5A1    About this scheme

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


    ECgene alternative splicing isoforms for NR5A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NR5A1 expression in normal human tissues (normalized intensities)      NR5A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NR5A1 Expression
    About this image


    NR5A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Pre-Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Gonad Somatic Cells Primitive Gonad
             Human Ovarian Fibroblasts (HOF)   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Gonad (Reproductive System)
             Gonad Somatic Cells Primitive Gonad
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See NR5A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NR5A1

    SOURCE GeneReport for Unigene cluster: Hs.495108
        SABiosciences Expression via Pathway-Focused PCR Array including NR5A1: 
              Nuclear Receptors & Coregulators in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NR5A1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nr5a11 , 5 nuclear receptor subfamily 5, group A, member 11, 5 88.5(n)1
    93.71(a)1
      2 (24.42 cM)5
    264231  NM_139051.31  NP_620639.11 
     386926565 
    chicken
    (Gallus gallus)
    Aves NR5A11 nuclear receptor subfamily 5, group A, member 1 78.58(n)
    75(a)
      395960  NM_205077.1  NP_990408.1 
    lizard
    (Anolis carolinensis)
    Reptilia NR5A16
    Uncharacterized protein
    57(a)
    1 ↔ 1
    GL344272.1(2482-32785)
    zebrafish
    (Danio rerio)
    Actinopterygii nr5a1a6
    nr5a1b6
    (see all 3)
    nuclear receptor subfamily 5, group A, member 1b
    (see all 3)
    56(a)
    54(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    8(54820581-54858194)
    21(7776899-7817498)
    fruit fly
    (Drosophila melanogaster)
    Insecta ftz-f13 regulation of transcription,
    DNA-dependent DNA more
    70(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea nhr-253 nuclear hormone receptor 74(a)   X(13044117-13048438)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NR5A1 gene
    NR5A22  RXRA2  RXRG2  NR2F12  NR2F22  NR2C12  HNF4G2  NR2F62  
    NR2E12  HNF4A2  RXRB2  NR2C22  NR6A12  
    18/50 SIMAP similar genes for NR5A1 using alignment to 7 protein entries:     STF1_HUMAN (see all proteins) (see all similar genes):
    HNF4G    HNF4alpha    NR2C1    NR2C2    VDR    NR2F6
    RORA    BCOR-RARA    NR1B1    NR1B2    NR2A1    NR2A2
    NR2A3    RARA    RARB    NR5A2    NR3C1    NR4A2

    NR5A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/607 SNPs in NR5A1 are shown (see all 607)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0632574
    46,XY sex reversal 3 (SRXY3)4--see VAR_0632572 G S mis40--------
    VAR_0391074
    46,XY sex reversal 3 (SRXY3)4--see VAR_0391072 R H mis40--------
    VAR_0391064
    46,XY sex reversal 3 (SRXY3)4--see VAR_0391062 C S mis40--------
    VAR_0632584
    46,XY sex reversal 3 (SRXY3)4--see VAR_0632582 L Q mis40--------
    VAR_0632564
    46,XY sex reversal 3 (SRXY3)4--see VAR_0632562 M I mis40--------
    VAR_0658664
    Spermatogenic failure 8 (SPGF8)4--see VAR_0658662 P L mis40--------
    VAR_0169824
    46,XY sex reversal 3 (SRXY3)4--see VAR_0169822 R Q mis40--------
    VAR_0632554
    46,XY sex reversal 3 (SRXY3)4--see VAR_0632552 V M mis40--------
    VAR_0047374
    46,XY sex reversal 3 (SRXY3)4--see VAR_0047372 G E mis40--------
    VAR_0658694
    Spermatogenic failure 8 (SPGF8)4--see VAR_0658692 D N mis40--------

    HapMap Linkage Disequilibrium report for NR5A1 (127243515 - 127269709 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NR5A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv893836CNV Loss21882294
    nsv466559CNV Loss19166990
    nsv517372CNV Loss19592680
    nsv893835CNV Loss21882294
    nsv466558CNV Loss19166990
    nsv893834CNV Loss21882294
    nsv526209CNV Gain19592680


    Human Gene Mutation Database (HGMD): NR5A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NR5A1
    DNA2.0 Custom Variant and Variant Library Synthesis for NR5A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 184757   
    OMIM disorders: 612965  612964  
    UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285
  • 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. 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. 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. 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 20/66 diseases for NR5A1 (see all 66):    About MalaCards
    acute adrenal insufficiency    46 xx gonadal dysgenesis    premature ovarian failure 7    lipid pneumonia
    46xy gonadal dysgenesis, complete or partial, with or without adrenal failure    nr5a1-related 46,xy dsd and 46,xy cgd    adrenocortical insufficiency, without ovarian defect    spermatogenic failure 8
    adrenal rest tumor    disorders of sex development    46, xy disorders of sex development    denys-drash syndrome
    anorchia    leydig cell tumor    gonadal dysgenesis    46 xy gonadal dysgenesis
    adrenocortical carcinoma    cryptorchidism    amenorrhea    premature ovarian failure

    9 diseases from the University of Copenhagen DISEASES database for NR5A1:
    Adrenal rest tumor     Klinefelter's syndrome     Gonadal dysgenesis     Hypospadias
    Adrenocortical carcinoma     Nephroblastoma     Adenoma     Granulosa cell tumor
    Endometriosis

    NR5A1 for disorders           About GeneDecksing

    10/42 Novoseek inferred disease relationships for NR5A1 gene (see all 42)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenal hypoplasia, congenital 85.1 10 15379426 (1), 18984668 (1), 12536356 (1), 11738790 (1)
    addisons disease 81.8 19 11748841 (1), 14580722 (1), 16684822 (1), 12530669 (1) (see all 12)
    lipoid congenital adrenal hyperplasia 73.9 1 11502818 (1)
    adenoma adrenocortical 72.8 9 11592817 (1), 7629233 (1), 9851803 (1), 20154585 (1) (see all 6)
    gonadal agenesis 71.6 5 15070943 (2), 19878766 (1), 17200175 (1)
    carcinoma adrenocortical 66.2 18 7557951 (3), 9232190 (2), 19433645 (1), 17520059 (1) (see all 7)
    pseudohermaphroditism male 60.3 4 15379426 (1), 9590178 (1), 11038323 (1)
    sex cord-stromal tumor 59.5 13 19033865 (3), 7673429 (2), 18753972 (1)
    leydig cell tumor 55.4 3 20026603 (1), 8395654 (1), 19679653 (1)
    adrenal tumor 54.2 6 9832418 (1), 10403575 (1), 7608198 (1), 10919277 (1) (see all 5)

    GeneTests: NR5A1
    GeneReviews: NR5A1
    Genetic Association Database (GAD): NR5A1
    Human Genome Epidemiology (HuGE) Navigator: NR5A1 (5 documents)

    Export disorders for NR5A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NR5A1 gene, integrated from 9 sources (see all 533):
    (articles sorted by number of sources associating them with NR5A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human male infertility associated with mutations in N R5A1 encoding steroidogenic factor 1. (PubMed id 20887963)1, 2, 4 Bashamboo A....McElreavey K. (2010)
    2. The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypo spadias in 46,XY males without adrenal insufficiency. (PubMed id 19439508)1, 4, 9 KAPhler B....Achermann J.C. (2009)
    3. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. (PubMed id 17694559)1, 2, 9 Koehler B.... Achermann J.C. (2008)
    4. Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7. (PubMed id 17901130)1, 2, 9 Lewis A.E....Bakke M. (2008)
    5. The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. (PubMed id 15897460)1, 2, 9 Wang W.... West B.L. (2005)
    6. Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17. (PubMed id 17664281)1, 2, 9 Li D.... Sewer M.B. (2007)
    7. Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5. (PubMed id 11479297)1, 2, 9 Jacob A.L.... Hedin L. (2001)
    8. The Gly146Ala variation in human SF-1 gene: its association with insulin resistance and type 2 diabetes in Chinese. (PubMed id 16564598)1, 4, 9 Liu W....Yanase T. (2006)
    9. Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. (PubMed id 16500365)1, 4, 9 Wada Y....Ogata T. (2006)
    10. Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. (PubMed id 15707893)1, 2, 9 Krylova I.N.... Ingraham H.A. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2516 HGNC: 7983 AceView: NR5A1 Ensembl:ENSG00000136931 euGenes: HUgn2516
    ECgene: NR5A1 H-InvDB: NR5A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NR5A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NR5A1 gene:
    Search GeneIP for patents involving NR5A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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