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

Gene ID: 2693, updated on 19-Jul-2021

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
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
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Genomic context

See GHSR in Genome Data Viewer
Location:
3q26.31
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (172443291..172448456, complement)
105.20201022 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 Sharpr-MPRA regulatory region 11565 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

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
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Short stature due to growth hormone secretagogue receptor deficiency
MedGen: C4707848 OMIM: 615925 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in hormone-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
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 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 response to monosodium glutamate IEA
Inferred from Electronic Annotation
more info
 
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 integral component of synaptic membrane 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
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynapse 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)

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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
    Q92847
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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