GHSR - growth hormone secretagogue receptor Gene

Also Known as GHDP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2693

About GHSR

Cytogenetic location: 3q26.31 Genomic coordinates (GRCh38): 3:172,443,291-172,448,456 (from NCBI)

This gene has 2 transcripts (splice variants), 218 orthologues, 15 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

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]

GHSR Products (2)

mRNA Protein Name
NM_198407.2 NP_940799.1 growth hormone secretagogue receptor type 1 isoform 1a
NM_004122.2 NP_004113.1 growth hormone secretagogue receptor type 1 isoform 1b
Molecular Function GO Annotation Evidence References Source
enables G protein-coupled receptor activity IDA
IDA: Inferred from direct assay
8688086 GOA
enables growth hormone secretagogue receptor activity IDA
IDA: Inferred from direct assay
8688086 GOA
enables growth hormone-releasing hormone receptor activity IDA
IDA: Inferred from direct assay
8688086 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
27129257 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
27129257 GOA
Biological Process GO Annotation Evidence References Source
involved in G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
8688086 GOA
involved in actin polymerization or depolymerization IDA
IDA: Inferred from direct assay
15232612 GOA
involved in decidualization IDA
IDA: Inferred from direct assay
17494105 GOA
involved in hormone-mediated signaling pathway IDA
IDA: Inferred from direct assay
8688086 GOA
involved in negative regulation of inflammatory response IDA
IDA: Inferred from direct assay
15232612 GOA
involved in negative regulation of interleukin-1 beta production IDA
IDA: Inferred from direct assay
15232612 GOA
involved in negative regulation of interleukin-6 production IDA
IDA: Inferred from direct assay
15232612 GOA
involved in negative regulation of tumor necrosis factor production IDA
IDA: Inferred from direct assay
15232612 GOA
involved in positive regulation of multicellular organism growth IMP
IMP: Inferred from mutant phenotype
16511605 GOA
involved in response to hormone IDA
IDA: Inferred from direct assay
15232612 GOA
Cellular Component GO Annotation Evidence References Source
located in cell surface IDA
IDA: Inferred from direct assay
8688086 GOA
located in membrane raft IDA
IDA: Inferred from direct assay
15232612 GOA
located in neuron projection IDA
IDA: Inferred from direct assay
12890514 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GHSR Protein Structure

7tm_1

7tm_1: 7 transmembrane receptor (rhodopsin family) (60 - 323)

  • 0
  • 100
  • 200
  • 300
  • 366 a.a.
Protein Preferred Names Protein Names

growth hormone secretagogue receptor type 1

  • GH-releasing peptide receptor

  • GHRP

  • GHS-R

  • ghrelin receptor

Related Diseases

Diseases Alias
Pylorospasm
Froelich Syndrome
  • Froehlich'S Syndrome

  • Froelich'S Syndrome

  • Adiposogenital Syndrome

  • Babinski-Froelich Syndrome

  • Froehlich Syndrome

Prader-Willi Syndrome
  • Prader-Labhart-Willi Syndrome

  • PWS

  • Willi-Prader Syndrome

  • Prader-Willi Syndrome Due To Translocation

  • Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

  • Prader Willi Syndrome

  • Prader-Willi Syndrome Due To Imprinting Mutation

  • Upd(15)Mat

Growth Hormone Secreting Pituitary Adenoma
  • Somatotroph Adenoma

  • Growth Hormone-Secreting Pituitary Adenoma

  • Growth Hormone Producing Adenoma Of The Pituitary

  • Growth Hormone Secreting Adenoma Of Pituitary

Gastroparesis
  • Gastroparesis Syndrome

  • Delayed Gastric Emptying

  • Gastric Atonia

  • Gastroparalysis

Ileus
  • Ileus Of Intestine

Growth Hormone Deficiency, Isolated Partial
  • Short Stature Due To Growth Hormone Secretagogue Receptor Deficiency

  • GHDP

  • Short Stature Due To Ghsr Deficiency

  • Ghrelin Receptor Deficiency

  • Hormone, Growth, Deficiency, Isolated Partial

  • Short Stature, Idiopathic, Autosomal

Eating Disorder
  • Eating Disorders

  • Feeding And Eating Disorders

Alzheimer Disease 9
  • AD9

  • Alzheimer'S Disease 9

  • Alzheimer Disease 9, Susceptibility To

  • Alzheimer Disease 9, Late-Onset

  • Alzheimer'S Disease 9, Late Onset

  • {Alzheimer Disease 9, Susceptibility To}

Prolactinoma
  • Prolactin-Producing Pituitary Gland Adenoma

  • Prolactin-Secreting Pituitary Adenoma

  • Forbes-Albright Syndrome

  • Lactotroph Adenoma

  • Prl-Secreting Pituitary Adenoma

  • Prloma

  • Pituitary Lactotrophic Adenoma

  • Familial Prolactinoma

  • Pituitary Adenoma, Prolactin-Secreting

  • Prolactinoma Of Pituitary Gland

  • PSPA

Pituitary Adenoma
  • Pituitary Neoplasms

  • Adenoma Of The Pituitary Gland

  • Pituitary Adenomas

  • Adenoma, Pituitary

  • Pituitary Gland Adenoma

Diabetes Mellitus
  • Diabetes

Bulimia Nervosa
  • Bulimia

  • Bulimia Nervosa, Susceptibility To

  • Binge Eating Disorder

  • BULN

  • Bn

  • Hyperorexia Nervosa

  • Bulimia Nervosa 2

  • BULN2

  • Susceptibility To Bulimia Nervosa

  • Bulimia Nervosa, Susceptibility To, Type 2

  • Bn - [Bulimia Nervosa]

  • Bulimia Nos

  • Bulimic

  • Bingeing

  • Binge Overeating

  • Bouts Of Overeating

  • Episodes Of Overeating

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Obesity , Susceptibility To

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Anorexia Nervosa
  • Anorexia Nervosa, Susceptibility To

  • ANON

  • Anorexia Nervosa, Susceptibility To, 1

  • An

  • Anorexia Nervosa 1

  • An - [Anorexia Nervosa]

Acromegaly
  • Gigantism

  • Growth Hormone Excess

  • Pituitary Giant

  • Somatotroph Adenoma

  • Growth Hormone-Secreting Pituitary Adenoma

Leptin Deficiency Or Dysfunction
  • Morbid Obesity

  • Obesity Due To Congenital Leptin Deficiency

  • LEPD

  • Congenital Leptin Deficiency

  • Obesity, Morbid

  • Obesity, Morbid, Due To Leptin Deficiency

  • Severe Obesity

  • Obesity, Morbid, Nonsyndromic 1

  • Leptin Deficiency

  • Obesity, Severe, Due To Leptin Deficiency

  • Morbid Obesity Due To Leptin Deficiency

  • Obesity Morbid

  • Leptin Dysfunction

  • Leptin

Functional Gastric Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus GHSR RGD RGD:621397
Felis catus GHSR VGNC VGNC:62548
Canis familiaris GHSR VGNC VGNC:41210
Bos taurus GHSR VGNC VGNC:29352
Mus musculus GHSR MGD MGI:2441906
Macaca mulatta GHSR VGNC VGNC:73051
Others GHSR NCBI