Growth hormone receptor

Source: Wikipedia, the free encyclopedia.
GHR
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_001048147
NM_001048178
NM_010284
NM_001286370

RefSeq (protein)

NP_001041643
NP_001273299
NP_034414

Location (UCSC)Chr 5: 42.42 – 42.72 MbChr 15: 3.35 – 3.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Growth hormone receptor is a

mammals
.

Structure

Growth hormone receptor (GHR) is a transmembrane protein consisting of 620 amino acids. The receptor is part of the Type I cytokine receptor family of receptors. GHR exists in two forms as a full length membrane-bound receptor and as a soluble GH binding protein (GHBP).[7][8] GHR contains two fibronectin type III β domains in its extracellular domain, whereas the intracellular domain contains tyrosine Kinase JAK2 binding sites for SH2 proteins. JAK2 is the primary signal transducer for growth hormone.[9]

Function

This gene encodes a protein that is a transmembrane receptor for

dimerization (the receptor may however also exist as monomers on the cell surface [12]) and the activation of an intra- and intercellular signal transduction pathway leading to growth.[13] A common alternate allele of this gene, called GHRd3, lacks exon three and has been well characterized. 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 (proportional dwarfism). Other splice variants, including one encoding a soluble form of the protein (GHRtr), have been observed but have not been thoroughly characterized.[5]
Laron mice (that is mice genetically engineered to carry defective Ghr), have a dramatic reduction in body mass (only reaching 50% of the weight of normal siblings), and also show a ~40% increase in lifespan.

Conserved and variable positions of the GHR protein are evidenced by multiple amino acid sequence comparisons among rodents. The site in yellow emphasizes a Proline shared by all species in blue and represents a protein signature of their common ancestry.[14]

Interactions

Growth hormone receptor has been shown to

CISH.[21]

Evolution

The GHR gene is used in animals as a

GHR has also proven useful at lower Note that the GHR intron 9 has also been used to investigate the
carnivores
phylogenetics.

Antagonists

Growth hormone

See also

  • Hypothalamic–pituitary–somatic axis

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112964Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000055737Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: GHR growth hormone receptor".
  6. ^ a b "OrthoMaM phylogenetic marker: GHR coding sequence". Archived from the original on 2015-09-24. Retrieved 2009-11-18.
  7. S2CID 4370204
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  37. ^ "Scientific Discussion of Somavert" (PDF). European Medicines Agency. 2004. Archived from the original (PDF) on 2018-06-18. Retrieved 2011-04-29.

External links