InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GHR

Summary

InnateDB Protein

IDBP-18936.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GHR

Protein Name

growth hormone receptor

Synonyms

GHBP;

Species

Homo sapiens

Ensembl Protein

ENSP00000350335

InnateDB Gene

IDBG-18930 (GHR)

Protein Structure

UniProt Annotation

Function

Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity). {ECO:0000250}.The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling.Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein. Note=On growth hormone binding, GHR is ubiquitinated, internalized, down-regulated and transported into a degradative or non-degradative pathway. {ECO:0000250}.Isoform 2: Cell membrane; Single-pass type I membrane protein. Note=Remains fixed to the cell membrane and is not internalized.Growth hormone-binding protein: Secreted. Note=Complexed to a substantial fraction of circulating GH. {ECO:0000250}.

Disease Associations

Laron syndrome (LARS) [MIM:262500]: A severe form of growth hormone insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to generate insulin-like growth factor I in response to growth hormone. {ECO:0000269PubMed:10870033, ECO:0000269PubMed:14678285, ECO:0000269PubMed:2779634, ECO:0000269PubMed:8137822, ECO:0000269PubMed:8421103, ECO:0000269PubMed:8504296, ECO:0000269PubMed:9024232, ECO:0000269PubMed:9661642, ECO:0000269PubMed:9851797}. Note=The disease is caused by mutations affecting the gene represented in this entry.Short stature, idiopathic, autosomal (ISSA) [MIM:604271]: A condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders. {ECO:0000269PubMed:7565946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in various tissues with high expression in liver and skeletal muscle. Isoform 4 is predominantly expressed in kidney, bladder, adrenal gland and brain stem. Isoform 1 expression in placenta is predominant in chorion and decidua. Isoform 4 is highly expressed in placental villi. Isoform 2 is expressed in lung, stomach and muscle. Low levels in liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 57 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	57 [view]
Protein-Protein	57 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0017046	peptide hormone binding
GO:0019838	growth factor binding
GO:0019901	protein kinase binding
GO:0042803	protein homodimerization activity
GO:0070064	proline-rich region binding

Biological Process

GO:0000187	activation of MAPK activity
GO:0000255	allantoin metabolic process
GO:0006101	citrate metabolic process
GO:0006103	2-oxoglutarate metabolic process
GO:0006105	succinate metabolic process
GO:0006107	oxaloacetate metabolic process
GO:0006549	isoleucine metabolic process
GO:0006573	valine metabolic process
GO:0006600	creatine metabolic process
GO:0006631	fatty acid metabolic process
GO:0006897	endocytosis
GO:0007259	JAK-STAT cascade
GO:0019221	cytokine-mediated signaling pathway
GO:0019530	taurine metabolic process
GO:0031623	receptor internalization
GO:0032355	response to estradiol
GO:0032870	cellular response to hormone stimulus
GO:0040014	regulation of multicellular organism growth
GO:0040018	positive regulation of multicellular organism growth
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein
GO:0042523	positive regulation of tyrosine phosphorylation of Stat5 protein
GO:0042977	activation of JAK2 kinase activity
GO:0044236	multicellular organismal metabolic process
GO:0046449	creatinine metabolic process
GO:0046898	response to cycloheximide
GO:0048009	insulin-like growth factor receptor signaling pathway
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation
GO:0060396	growth hormone receptor signaling pathway
GO:0060397	JAK-STAT cascade involved in growth hormone signaling pathway

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0009986	cell surface
GO:0016021	integral component of membrane
GO:0043235	receptor complex
GO:0070195	growth hormone receptor complex