GHBP (GHR) Active Protein

This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]

GH receptor: Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway. Defects in GHR are a cause of Laron syndrome (LARS). 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. Defects in GHR may be a cause of idiopathic short stature autosomal (ISSA). Short stature is defined by a subnormal rate of growth. Belongs to the type I cytokine receptor family. Type 1 subfamily. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Receptor, cytokine

Chromosomal Location of Human Ortholog: 5p13-p12

Cellular Component: extracellular space; cell surface; integral to plasma membrane; integral to membrane; plasma membrane; extracellular region; receptor complex

Molecular Function: hematopoietin/interferon-class (D200-domain) cytokine receptor activity; protein binding; protein homodimerization activity; peptide hormone binding; growth factor binding; protein kinase binding

Biological Process: succinate metabolic process; oxaloacetate metabolic process; activation of MAPK activity; positive regulation of multicellular organism growth; fatty acid metabolic process; tyrosine phosphorylation of JAK2 protein; response to estradiol stimulus; 2-oxoglutarate metabolic process; positive regulation of tyrosine phosphorylation of Stat3 protein; allantoin metabolic process; receptor internalization; creatinine metabolic process; isoleucine metabolic process; cytokine and chemokine mediated signaling pathway; regulation of multicellular organism growth; valine metabolic process; citrate metabolic process; endocytosis; JAK-STAT cascade; creatine metabolic process; multicellular organismal metabolic process; cellular response to hormone stimulus; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of tyrosine phosphorylation of Stat5 protein; insulin-like growth factor receptor signaling pathway; response to cycloheximide; taurine metabolic process

Disease: Hypercholesterolemia, Familial; Laron Syndrome