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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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