GHSR
Growth hormone secretagogue receptor type 1
Also known as: GHSR_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92847
- Gene
- GHSR
- Ensembl
- ENSG00000121853
- Chromosome
- 3
- Canonical length
- 366 aa
- Protein class
- Disease related genes, G-protein coupled receptors, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
366 residues, UniProt reviewed canonical sequence.
>Q92847|GHSR
1 MWNATPSEEP GFNLTLADLD WDASPGNDSL GDELLQLFPA PLLAGVTATC VALFVVGIAG
61 NLLTMLVVSR FRELRTTTNL YLSSMAFSDL LIFLCMPLDL VRLWQYRPWN FGDLLCKLFQ
121 FVSESCTYAT VLTITALSVE RYFAICFPLR AKVVVTKGRV KLVIFVIWAV AFCSAGPIFV
181 LVGVEHENGT DPWDTNECRP TEFAVRSGLL TVMVWVSSIF FFLPVFCLTV LYSLIGRKLW
241 RRRRGDAVVG ASLRDQNHKQ TVKMLAVVVF AFILCWLPFH VGRYLFSKSF EPGSLEIAQI
301 SQYCNLVSFV LFYLSAAINP ILYNIMSKKY RVAVFRLLGF EPFSQRKLST LKDESSRAWT
361 ESSINTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GHSR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 3.5 nTPM
Expression across tissuesHPA
Tissue
- pituitary gland: 3.5 nTPM
- hypothalamus: 0.6 nTPM
- adrenal gland: 0.2 nTPM
- appendix: 0.1 nTPM
- basal ganglia: 0.1 nTPM
- bone marrow: 0.1 nTPM
Single-cell type
- somatotrophs: 19 nCPM
- corticotrophs: 18 nCPM
- lactotrophs: 5.8 nCPM
- thyrotrophs: 4.8 nCPM
- pancreatic islet cells: 3.6 nCPM
- other brain neurons: 2.2 nCPM
Immune cell
- NK-cell: 0.5 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- hypothalamus: 33 nTPM
- hippocampal formation: 8.1 nTPM
- medulla oblongata: 2.8 nTPM
- pons: 1.8 nTPM
- amygdala: 1.5 nTPM
- cerebral cortex: 1.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GHSR.
Disease | AllUniProt
Conditions GHSR is implicated in, by any mechanism.
- Growth hormone deficiency, isolated partial (GHDP) MIM:615925
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 289 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Short stature due to growth hormone secretagogue receptor deficiency
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.01
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.19
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin polymerization or depolymerization
- adult feeding behavior
- cellular response to insulin stimulus
- cellular response to insulin-like growth factor stimulus
- cellular response to lipopolysaccharide
- cellular response to thyroid hormone stimulus
- decidualization
- G protein-coupled receptor signaling pathway
- ghrelin secretion
- growth hormone secretion
- hormone-mediated signaling pathway
- insulin-like growth factor receptor signaling pathway
- learning or memory
- negative regulation of appetite
- negative regulation of inflammatory response
- negative regulation of insulin secretion
- negative regulation of interleukin-1 beta production
- negative regulation of interleukin-6 production
- negative regulation of locomotion involved in locomotory behavior
- negative regulation of macrophage apoptotic process
- negative regulation of norepinephrine secretion
- negative regulation of tumor necrosis factor production
- positive regulation of appetite
- positive regulation of eating behavior
- positive regulation of fatty acid metabolic process
- positive regulation of insulin-like growth factor receptor signaling pathway
- positive regulation of multicellular organism growth
- positive regulation of small intestinal transit
- positive regulation of small intestine smooth muscle contraction
- positive regulation of sprouting angiogenesis
- positive regulation of vascular endothelial cell proliferation
- postsynaptic modulation of chemical synaptic transmission
- regulation of gastric motility
- regulation of growth hormone secretion
- regulation of neurotransmitter receptor localization to postsynaptic specialization membrane
- regulation of postsynapse organization
- regulation of synapse assembly
- regulation of transmission of nerve impulse
- response to dexamethasone
- response to estradiol
- response to follicle-stimulating hormone
- response to food
- response to growth hormone
- response to hormone
- response to L-glutamate
- spermatogenesis
- regulation of hindgut contraction
Molecular functions
- G protein-coupled receptor activity
- growth hormone-releasing hormone receptor activity
- identical protein binding
- peptide hormone binding
- growth hormone secretagogue receptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GHSR as an antibody target. Whether an autoantibody or antibody against GHSR could matter depends on whether native GHSR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GHSR is annotated at the cell surface, where native GHSR is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GHSR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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