G protein-coupled receptors (GPRs), also known as seven transmembrane receptors, heptahelical receptors or 7TM receptors, comprise a superfamily of proteins that play a role in many different stimulus-response pathways. G protein coupled receptors translate extracellular signals into intracellular signals (G protein activation) and they respond to a variety of signaling molecules, such as hormones and neurotransmitters. GPR126 (G protein-coupled receptor 126), also known as APG1, DREG, VIGR or PS1TP2, is a 1,221 amino acid multi-pass membrane protein that contains one pentaxin domain, one GPS domain and one CUB domain. Existing as three alternatively spliced isoforms, GPR126 functions as an orphan G protein-coupled receptor that, when subject to genetic variation, may influence stature and adult height.
Function:
Orphan receptor. May be required for normal differentiation of promyelinating Schwann cells and for normal myelination of axons. Signals probably through G-proteins to transiently elevate cAMP levels.
Subcellular Location:
Cell membrane. Detected on the cell surface of activated but not resting umbilical vein.
Tissue Specificity:
Expressed in placenta and to a lower extent in pancreas and liver. Detected in aortic endothelial cells but not in skin microvascular endothelial cells.
Post-translational modifications:
Proteolytically cleaved into 2 conserved sites: one in the GPS domain (S1 site) and the other in the middle of the extracellular domain (S2 site). The proteolytic cleavage at S1 site generates an extracellular subunit and a seven-transmembrane subunit. Furin is involved in the cleavage of the S2 site generating a soluble fragment. Processing at the GPS domain occurred independent of and probably prior to the cleavage at the S2 site.
DISEASE:
Proteolytically cleaved into 2 conserved sites: one in the GPS domain (S1 site) and the other in the middle of the extracellular domain (S2 site). The proteolytic cleavage at S1 site generates an extracellular subunit and a seven-transmembrane subunit. Furin is involved in the cleavage of the S2 site generating a soluble fragment. Processing at the GPS domain occurred independent of and probably prior to the cleavage at the S2 site.
Similarity:
Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Contains 1 CUB domain.
Contains 1 GPS domain.
Contains 1 pentaxin domain.
SWISS:
Q86SQ4
Gene ID:
57211
Database links:
Entrez Gene: 57211 Human
Entrez Gene: 215798 Mouse
Omim: 612243 Human
SwissProt: Q86SQ4 Human
SwissProt: Q6F3F9 Mouse
Unigene: 318894 Human
Unigene: 726094 Human
Unigene: 88142 Mouse
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