GHSR

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]

Description

Growth hormone secretagogue receptor

Tissue specificity

Group enriched (brain, pituitary gland)

Predicted location

Membrane

Protein family

Disease related genes
G-protein coupled receptors
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Transporters

Chromosome

3 (172443291 - 172448456)

Ensembl ID

ENSG00000121853  (ver. 103.38)

Orthologs

Mouse Ghsr: ENSMUSG00000051136

UniProt

Q92847

neXtProt

NX_Q92847

Human splice variants
Mouse splice variants

Protein structure