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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A case control study investigating the methylation levels of GHRL and GHSR genes in alcohol use disorder.
Title: A case control study investigating the methylation levels of GHRL and GHSR genes in alcohol use disorder.
miR-128-3p Regulates Follicular Granulosa Cell Proliferation and Apoptosis by Targeting the Growth Hormone Secretagogue Receptor.
Title: miR-128-3p Regulates Follicular Granulosa Cell Proliferation and Apoptosis by Targeting the Growth Hormone Secretagogue Receptor.
Serotonin, ghrelin, and motilin gene/receptor/transporter polymorphisms in childhood functional constipation.
Title: Serotonin, ghrelin, and motilin gene/receptor/transporter polymorphisms in childhood functional constipation.
Association of obesity in T2DM with differential polymorphism of ghrelin, growth hormone secretagogue receptor-1 and telomeres maintenance genes.
Title: Association of obesity in T2DM with differential polymorphism of ghrelin, growth hormone secretagogue receptor-1 and telomeres maintenance genes.
Therapeutic potential of GHSR-1A antagonism in alcohol dependence, a review.
Title: Therapeutic potential of GHSR-1A antagonism in alcohol dependence, a review.
Biased signaling: A viable strategy to drug ghrelin receptors for the treatment of obesity.
Title: Biased signaling: A viable strategy to drug ghrelin receptors for the treatment of obesity.
The emerging role of heterodimerisation and interacting proteins in ghrelin receptor function.
Title: The emerging role of heterodimerisation and interacting proteins in ghrelin receptor function.
Dopamine and ghrelin receptor co-expression and interaction in the spinal defecation centers.
Title: Dopamine and ghrelin receptor co-expression and interaction in the spinal defecation centers.
LEAP2 has antagonized the ghrelin receptor GHSR1a since its emergence in ancient fish.
Title: LEAP2 has antagonized the ghrelin receptor GHSR1a since its emergence in ancient fish.
Molecular recognition of an acyl-peptide hormone and activation of ghrelin receptor.
Title: Molecular recognition of an acyl-peptide hormone and activation of ghrelin receptor.

Submit: New GeneRIF Correction See all GeneRIFs (139)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Short stature due to growth hormone secretagogue receptor deficiency MedGen: C4707848 OMIM: 615925 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483183

G68325 (e-PCR)
- UniSTS:229502

G68326 (e-PCR)
- UniSTS:229503

G68327 (e-PCR)
- UniSTS:229504

G68328 (e-PCR)
- UniSTS:229505

NoName (e-PCR)
- UniSTS:480752

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

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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

NG_021159.1 RefSeqGene

Range

5001..10166

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004122.2 → NP_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:46 → 70

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:44 → 265

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_198407.2 → NP_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:44 → 334

7tmA_GHSR; growth hormone secretagogue receptor, member of the class A family of seven-transmembrane G protein-coupled receptors