Aliases for GHSR Gene
External Ids for GHSR Gene
Previous GeneCards Identifiers for GHSR 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]
GeneCards Summary for GHSR Gene
GHSR (Growth Hormone Secretagogue Receptor) is a Protein Coding gene. Diseases associated with GHSR include growth hormone deficiency, isolated partial and short stature due to ghsr deficiency. Among its related pathways are Signaling by GPCR and cAMP signaling pathway. GO annotations related to this gene include G-protein coupled receptor activity and hormone binding. An important paralog of this gene is GPR39.
UniProtKB/Swiss-Prot for GHSR Gene
Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine).
Ghrelin is the endogenous ligand for the ghrelin receptor, also known as the growth hormone secretagog receptor (GHS-R1a). Alternative splicing of preproghrelin yields two active peptides: ghrelin and des-Gln14-ghrelin, which differ by the deletion of one amino acid.