GHRHR Gene Summary [Human]
This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
Details
| Type | Processed Transcript |
| Official Symbol | GHRHR |
| Official Name | growth hormone releasing hormone receptor [Source:HGNC Symbol;Acc:HGNC:4266] |
| Ensembl ID | ENSG00000106128 |
| Bio databases IDs | |
| Aliases | growth hormone releasing hormone receptor |
| Synonyms | GHRFR, GHRHREC, GHRHR SV1, GRFR, Grf Receptor, growth hormone releasing hormone receptor, HPR3, IGHD1B, IGHD4, lit, little, PGHRH-R |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GHRHR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- Hormone receptor domain
- 7 transmembrane receptor (Secretin family)
- growth hormone-releasing hormone receptor
- transmembrane domain
- protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- growth factor binding
- polypeptide hormone binding
Pathways
Biological processes and signaling networks where the GHRHR gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- HIV infection
- obesity
- experimental autoimmune encephalomyelitis
- isolated growth hormone deficiency type IV
- lipodystrophy
- idiopathic scoliosis
- HIV-associated lipodystrophy syndrome
- isolated growth hormone deficiency type IB
- diabetic retinopathy
role in cell
- differentiation
- expression in
- proliferation
- apoptosis
- upregulation in
- growth
- cell viability
- production in
- phosphorylation in
- colony formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- Cytoplasm
- cell surface
- intracellular space
- cellular membrane
- inner nuclear membrane
- outer nuclear membrane
- nuclear matrix
- photoreceptor outer segments
- photoreceptor inner segments
- sarcolemma
- secretory granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GHRHR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- somatotropin secreting cell development
- multicellular organismal reproductive process
- response to estrogen stimulus
- positive regulation of growth hormone secretion
- regulation of intracellular steroid hormone receptor signaling pathway
- determination of adult lifespan
- positive regulation of cell proliferation
- lactation
- cell maturation
- cell surface receptor signaling pathway
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- hormone metabolic process
- positive regulation of multicellular organism growth
- positive regulation of insulin-like growth factor receptor signaling pathway
- cellular response to insulin stimulus
- regulation of protein metabolic process
- response to insulin stimulus
- response to glucocorticoid stimulus
- growth hormone secretion
- establishment of localization in cell
Cellular Component
Where in the cell the gene product is active
- nuclear inner membrane
- cytoplasm
- secretory granule
- membrane
- nuclear matrix
- nuclear outer membrane
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- G-protein coupled receptor activity
- G-protein coupled peptide receptor activity
- growth factor binding
- protein binding
- peptide hormone binding
- growth hormone-releasing hormone receptor activity