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

    Gene ID: 2693, updated on 30-Nov-2024

    Summary

    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; AllianceGenome:HGNC:4267
    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; GHS-R1a; GHSR-1a
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GHSR in Genome Data Viewer
    Location:
    3q26.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (172443291..172448456, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (175228381..175233536, complement)
    RS_2024_09 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 ReSE screen-validated silencer GRCh37_chr3:171973898-171974093 Neighboring gene RNA, 7SL, cytoplasmic 141, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14584 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:172018611-172019279 Neighboring gene Sharpr-MPRA regulatory region 11565 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:172032476-172033374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:172165405-172166172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:172167124-172167624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:172167625-172168125 Neighboring gene MPRA-validated peak4924 silencer Neighboring gene basic leucine zipper and W2 domains 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20826 Neighboring gene Sharpr-MPRA regulatory region 3413 Neighboring gene TNF superfamily member 10 Neighboring gene TBPL1 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:172309739-172310938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20828 Neighboring gene long intergenic non-protein coding RNA 2068

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Short stature due to growth hormone secretagogue receptor deficiency
    MedGen: C5887324 OMIM: 615925 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth hormone secretagogue receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth hormone secretagogue receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth hormone-releasing hormone receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peptide hormone binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin polymerization or depolymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adult feeding behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to insulin-like growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to thyroid hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in decidualization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ghrelin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in growth hormone secretion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in hormone-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in hormone-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of appetite IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of locomotion involved in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of macrophage apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of norepinephrine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of appetite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of small intestinal transit IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of small intestine smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of sprouting angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of vascular endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gastric motility IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of growth hormone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of hindgut contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transmission of nerve impulse IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to L-glutamate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to dexamethasone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to follicle-stimulating hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to growth hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hormone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    growth hormone secretagogue receptor type 1
    Names
    GH-releasing peptide receptor
    GHRP
    GHS-R
    ghrelin receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, ENST00000427970.1
      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
      Q14D12, Q6ISR8, Q92847, Q92848, Q96RJ7
      Related
      ENSP00000241256.2, ENST00000241256.3
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      175228381..175233536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)