This gene encodes a member of the G-protein coupledreceptor family. The encoded protein may play a role in energyhomeostasis and regulation of body weight. Two identifiedtranscript variants are expressed in several tissues and areevolutionary conserved in fish and swine. One transcript, 1a,excises an intron and encodes the functional protein; this proteinis the receptor for the Ghrelin ligand and defines a neuroendocrinepathway 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 idiopathicshort stature.[provided by RefSeq, Apr 2010].
Function:
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).
Subcellular Location:
Cell membrane.
Tissue Specificity:
Pituitary and hypothalamus.
DISEASE:
Defects in GHSR may be a cause of idiopathic short stature autosomal (ISSA) [MIM:604271]. Short stature is defined by a subnormal rate of growth.
Similarity:
Belongs to the G-protein coupled receptor 1 family.
SWISS:
Q6ISR8
Gene ID:
2693
Database links:
Entrez Gene: 2693 Human
Entrez Gene: 208188 Mouse
Entrez Gene: 397372 Pig
Entrez Gene: 16822 Rat
Omim: 601898 Human
SwissProt: Q6ISR8 Human
SwissProt: Q92847 Human
SwissProt: Q99P50 Mouse
SwissProt: Q95254 Pig
SwissProt: O08725 Rat
Unigene: 130212 Human
Unigene: 194721 Mouse
Unigene: 16107 Pig
Unigene: 74241 Rat
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