Display Settings:

Format

Send to:

Choose Destination

    FSHR follicle stimulating hormone receptor [ Homo sapiens ]

    Gene ID: 2492, updated on 19-May-2012

    Summary

    Official Symbol
    FSHRprovided by HGNC
    Official Full Name
    follicle stimulating hormone receptorprovided by HGNC
    Primary source
    HGNC:3969
    See related
    Ensembl:ENSG00000170820; HPRD:00639; MIM:136435; Vega:OTTHUMG00000129259
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LGR1; ODG1; FSHRO; MGC141667; MGC141668
    Summary
    The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

    Genomic context

    Location :
    2p21-p16
    Sequence :
    Chromosome: 2; NC_000002.11 (49189296..49381666, complement)
    See FSHR in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene STON1-GTF2A1L readthrough Neighboring gene luteinizing hormone/choriogonadotropin receptor Neighboring gene C-terminal binding protein 2 pseudogene Neighboring gene ribosomal protein L7 pseudogene 13 Neighboring gene neurexin 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P23945 P25098 ADRBK1    HPRD  PubMed  
    P23945 P31751 AKT2    HPRD  PubMed  
    P23945 Q9UKG1 APPL1    HPRD  PubMed  
    P23945 P36575 ARR3    HPRD  PubMed  
    P23945 P27824 CANX    HPRD  PubMed  
    P23945 P45973 CBX5    HPRD  PubMed  
    P23945 P01225 FSHB    HPRD  PubMed  
    P23945 P32298 GRK4    HPRD  PubMed  
    P23945 P43250 GRK6    HPRD  PubMed  
    P23945 P62979 RPS27A    HPRD  PubMed  
    P23945 P60903 S100A10    HPRD  PubMed  
    P23945 P11387 TOP1    HPRD  PubMed  
    P23945 P62987 UBA52    HPRD  PubMed  
    P23945 P62988 UBB    HPRD  PubMed  
    P23945 Ubiquitin B UBB    HPRD  PubMed  
    P23945 P27348 YWHAQ    HPRD  PubMed  
    P23945 Q05516 ZBTB16    HPRD  PubMed  
    BioGRID:108770 BioGRID:106665 ADRBK1    BioGRID  PubMed Biochemical Activity 
    BioGRID:108770 BioGRID:109126 GRK4    BioGRID  PubMed Biochemical Activity 
    BioGRID:108770 BioGRID:109128 GRK6    BioGRID  PubMed Biochemical Activity 
    BioGRID:108770 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
      GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • GPCRs, Other, organism-specific biosystem (from WikiPathways)
      GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • Hormone ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Hormone ligand-binding receptors, organism-specific biosystemThe class A (rhodopsin-like) GPCRs that bind to hormone ligands are annotated here. The hormones follicle-stimulating hormone (FSH), luteinizing hormone (LH), thyroid-stimulating hormone (TSH) and hu...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
      Ovarian Infertility Genes, organism-specific biosystemOvarian ???bottleneck??? genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertil...
    • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
      Peptide GPCRs, organism-specific biosystem
      Peptide GPCRs
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    follicle-stimulating hormone receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    peptide hormone binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    signal transducer activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    activation of adenylate cyclase activity by G-protein signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    female gamete generation TAS
    Traceable Author Statement
    more info
    PubMed 
    female gonad development TAS
    Traceable Author Statement
    more info
    PubMed 
    follicle-stimulating hormone signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    gonad development TAS
    Traceable Author Statement
    more info
    PubMed 
    male gonad development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    regulation of chromosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis, exchange of chromosomal proteins IEA
    Inferred from Electronic Annotation
    more info
     
    transcytosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    follicle-stimulating hormone receptor
    Names
    follicle-stimulating hormone receptor
    FSH receptor
    follitropin receptor

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008146.1 RefSeqGene

      Range
      4965..197335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000145.3NP_000136.2  follicle-stimulating hormone receptor isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007189, AK292562, BC118548, BC125270, DB064473
      Consensus CDS
      CCDS1843.1
      UniProtKB/Swiss-Prot
      P23945
      Related
      ENSP00000384708, OTTHUMP00000159573, ENST00000406846, OTTHUMT00000251367
      Conserved Domains (4) summary
      pfam12369
      Location:282349
      Blast Score: 284
      GnHR_trans; Gonadotropin hormone receptor transmembrane region
      pfam00001
      Location:385626
      Blast Score: 331
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam13855
      Location:72132
      Blast Score: 125
      LRR_8; Leucine rich repeat
      cl02423
      Location:2045
      Blast Score: 97
      LRRNT; Leucine rich repeat N-terminal domain
    2. NM_181446.2NP_852111.2  follicle-stimulating hormone receptor isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AC007189, AK292562, BC125270, DB064473
      Consensus CDS
      CCDS1844.2
      UniProtKB/Swiss-Prot
      P23945
      Related
      ENSP00000306780, OTTHUMP00000200511, ENST00000304421, OTTHUMT00000323858
      Conserved Domains (5) summary
      pfam12369
      Location:256323
      Blast Score: 285
      GnHR_trans; Gonadotropin hormone receptor transmembrane region
      pfam00001
      Location:359600
      Blast Score: 330
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam12799
      Location:120159
      Blast Score: 82
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:72132
      Blast Score: 126
      LRR_8; Leucine rich repeat
      cl02423
      Location:2045
      Blast Score: 96
      LRRNT; Leucine rich repeat N-terminal domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      49189296..49381666, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      48923221..49115367, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC007189.6 (6..49982) None
    genomic AC079394.3 AAX93229.1
    genomic AC092533.1 AAX88895.1
    genomic CH471053.2 EAX00187.1
      EAX00188.1
      EAX00189.1
    genomic S73199.1 AAB32071.1
    genomic S73526.1 AAB32225.1
    mRNA AK292562.1 BAF85251.1
    mRNA AK301899.1 BAG63327.1
    mRNA AK310367.1 None
    mRNA AY429104.1 AAR07899.1
    mRNA BC096831.1 AAH96831.1
    mRNA BC118548.1 AAI18549.1
    mRNA BC125270.1 AAI25271.1
    mRNA DB064473.1 None
    mRNA JN003607.1 AEI86722.1
    mRNA M65085.1 AAA52477.1
    mRNA M95489.1 AAA52478.1
    mRNA S59900.1 AAB26480.1
    mRNA X68044.1 CAA48179.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23945.3 GenPept UniProtKB/Swiss-Prot:P23945

      Supplemental Content

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...