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This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
GHRH (Growth Hormone Releasing Hormone) is a Protein Coding gene. Diseases associated with GHRH include Acromegaly and Isolated Growth Hormone Deficiency, Type Ib. Among its related pathways are Signaling by GPCR and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include hormone activity and growth hormone-releasing hormone receptor binding. An important paralog of this gene is ADCYAP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005179 | hormone activity | IEA | -- |
GO:0005184 | neuropeptide hormone activity | IBA | 21873635 |
GO:0016608 | growth hormone-releasing hormone activity | IBA,IDA | 8421089 |
GO:0031770 | growth hormone-releasing hormone receptor binding | IBA,IPI | 1333056 |
GO:0051428 | peptide hormone receptor binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | NAS,TAS | -- |
GO:0005615 | extracellular space | IBA,ISS | -- |
GO:0043005 | neuron projection | IBA | 21873635 |
GO:0043195 | terminal bouton | ISS | -- |
GO:0043204 | perikaryon | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
5 | CREB Pathway |
CREB Pathway
.68
IP3 Pathway
.68
|
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
GO:0007189 | adenylate cyclase-activating G protein-coupled receptor signaling pathway | ISS | -- |
GO:0007267 | cell-cell signaling | TAS | 6192430 |
GO:0008284 | positive regulation of cell proliferation | IBA,IDA | 12867592 |
GO:0021984 | adenohypophysis development | ISS | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GHRH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GHRH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GHRH 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ghrh 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ghrh 30 17 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714816 | Benign: not provided | 37,256,435(-) | G/A | SYNONYMOUS_VARIANT | |
rs17787698 | - | p.Tyr32Cys | |||
rs4988492 | - | p.Leu75Phe |
Disorder | Aliases | PubMed IDs |
---|---|---|
acromegaly |
|
|
isolated growth hormone deficiency, type ib |
|
|
gigantism |
|
|
dwarfism |
|
|
hypopituitarism |
|