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    GHSR growth hormone secretagogue receptor [ Homo sapiens (human) ]

    Gene ID: 2693, updated on 16-Jun-2018
    Official Symbol
    GHSRprovided by HGNC
    Official Full Name
    growth hormone secretagogue receptorprovided by HGNC
    Primary source
    HGNC:HGNC:4267
    See related
    Ensembl:ENSG00000121853 MIM:601898; Vega:OTTHUMG00000156946
    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
    GHDP
    Summary
    This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    See GHSR in Genome Data Viewer
    Location:
    3q26.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (172443291..172448456, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (172161081..172166246, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene fibronectin type III domain containing 3B Neighboring gene RNA, 7SL, cytoplasmic 141, pseudogene Neighboring gene basic leucine zipper and W2 domains 1 pseudogene 1 Neighboring gene TBP-like 1 pseudogene Neighboring gene TNF superfamily member 10 Neighboring gene long intergenic non-protein coding RNA 2068

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Short stature, idiopathic, autosomal
    MedGen: C1858656 GeneReviews: Not available
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    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    • 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 (q) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
    • 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.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
    • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
      Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
    • 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
    • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
      Peptide GPCRs, organism-specific biosystem
      Peptide GPCRs
    • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
    • 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...
    • cAMP signaling pathway, organism-specific biosystem (from KEGG)
      cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cAMP signaling pathway, conserved biosystem (from KEGG)
      cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth hormone secretagogue receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth hormone-releasing hormone receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide hormone binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    actin polymerization or depolymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adult feeding behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to insulin-like growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to thyroid hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    decidualization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ghrelin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    growth hormone secretion TAS
    Traceable Author Statement
    more info
    PubMed 
    hormone-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of appetite IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of interleukin-6 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of locomotion involved in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of macrophage apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of norepinephrine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of tumor necrosis factor biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of tumor necrosis factor secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of appetite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of small intestinal transit IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of small intestine smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of sprouting angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of vascular endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gastric motility IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of growth hormone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of hindgut contraction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transmission of nerve impulse IEA
    Inferred from Electronic Annotation
    more info
     
    response to dexamethasone IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to follicle-stimulating hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to food IEA
    Inferred from Electronic Annotation
    more info
     
    response to growth hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to hormone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to monosodium glutamate IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    growth hormone secretagogue receptor type 1
    Names
    GH-releasing peptide receptor
    GHRP
    GHS-R
    ghrelin receptor

    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_021159.1 RefSeqGene

      Range
      5001..10166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004122.2NP_004113.1  growth hormone secretagogue receptor type 1 isoform 1b

      See identical proteins and their annotated locations for NP_004113.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1b), also known as GHS-R1b, includes intronic sequence and results in a predicted protein with a distinct C-terminus lacking two transmembrane domains, compared to isoform 1a. This protein does not function as a ghrelin receptor; however, it may play a regulatory role.
      Source sequence(s)
      AC069523, BC069068
      Consensus CDS
      CCDS46959.1
      UniProtKB/Swiss-Prot
      Q92847
      Related
      ENSP00000395344.1, OTTHUMP00000211093, ENST00000427970.1, OTTHUMT00000346729
      Conserved Domains (2) summary
      cd14964
      Location:4670
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:44265
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
    2. NM_198407.2NP_940799.1  growth hormone secretagogue receptor type 1 isoform 1a

      See identical proteins and their annotated locations for NP_940799.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1a), also known as GHS-R1a, represents the completely spliced transcript, and encodes the longer isoform (1a). This transcript has been shown to encode a functional protein.
      Source sequence(s)
      AC069523, BC113547
      Consensus CDS
      CCDS3218.1
      UniProtKB/Swiss-Prot
      Q92847
      Related
      ENSP00000241256.2, OTTHUMP00000211092, ENST00000241256.2, OTTHUMT00000346728
      Conserved Domains (1) summary
      cd15131
      Location:44334
      7tmA_GHSR; growth hormone secretagogue receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      172443291..172448456 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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