GHSR - growth hormone secretagogue receptor Gene
Also Known as GHDP
Species: Homo sapiens
About GHSR
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 |
| 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 |
GHSR Protein Structure
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 |
|
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Pylorospasm |
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| Froelich Syndrome |
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| Prader-Willi Syndrome |
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| Growth Hormone Secreting Pituitary Adenoma |
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| Gastroparesis |
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| Ileus |
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| Growth Hormone Deficiency, Isolated Partial |
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| Eating Disorder |
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| Alzheimer Disease 9 |
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| Prolactinoma |
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| Pituitary Adenoma |
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| Diabetes Mellitus |
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| Bulimia Nervosa |
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| Body Mass Index Quantitative Trait Locus 11 |
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| Anorexia Nervosa |
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| Acromegaly |
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| Leptin Deficiency Or Dysfunction |
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| Functional Gastric Disease |
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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 |