1. Gene
  2. GHSR - growth hormone secretagogue receptor Gene

GHSR - growth hormone secretagogue receptor Gene

中文名称:生长激素促分泌素受体

种属: Homo sapiens

同用名: GHDP

基因 ID: 2693 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 G 蛋白偶联受体家族的一个成员。编码的蛋白质可能在能量稳态和体重调节中发挥作用。两个已识别的转录本变体在几种组织中表达,并且在鱼和猪中是进化保守的。一个转录本 1a 切除一个内含子并编码功能蛋白;这种蛋白质是 Ghrelin 配体的受体,定义了生长激素释放的神经内分泌途径。第二个转录本 (1b) 保留了内含子并且不作为 Ghrelin 的受体发挥作用;然而,它可能起到减弱亚型 1a 活性的作用。该基因的突变与常染色体特发性矮小有关。[RefSeq 提供,2010 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables G protein-coupled receptor activity IDA
IDA: 通过直接分析推断
8688086 GOA
enables growth hormone secretagogue receptor activity IDA
IDA: 通过直接分析推断
8688086 GOA
enables growth hormone-releasing hormone receptor activity IDA
IDA: 通过直接分析推断
8688086 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
27129257 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
27129257 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
8688086 GOA
involved in actin polymerization or depolymerization IDA
IDA: 通过直接分析推断
15232612 GOA
involved in decidualization IDA
IDA: 通过直接分析推断
17494105 GOA
involved in hormone-mediated signaling pathway IDA
IDA: 通过直接分析推断
8688086 GOA
involved in negative regulation of inflammatory response IDA
IDA: 通过直接分析推断
15232612 GOA
involved in negative regulation of interleukin-1 beta production IDA
IDA: 通过直接分析推断
15232612 GOA
involved in negative regulation of interleukin-6 production IDA
IDA: 通过直接分析推断
15232612 GOA
involved in negative regulation of tumor necrosis factor production IDA
IDA: 通过直接分析推断
15232612 GOA
involved in positive regulation of multicellular organism growth IMP
IMP: 通过突变表型推断
16511605 GOA
involved in response to hormone IDA
IDA: 通过直接分析推断
15232612 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
8688086 GOA
located in membrane raft IDA
IDA: 通过直接分析推断
15232612 GOA
located in neuron projection IDA
IDA: 通过直接分析推断
12890514 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

GHSR 蛋白结构

7tm_1

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

  • 0
  • 100
  • 200
  • 300
  • 366 a.a.
蛋白主名 其他名称

growth hormone secretagogue receptor type 1

GH-releasing peptide receptor

GHRP

GHS-R

ghrelin receptor

关联疾病

疾病名称 别名
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
疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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