ADGRG1 Human Protein

This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

GPR56: Could be involved in cell-cell interactions. Defects in GPR56 are the cause of bilateral frontoparietal polymicrogyria (BFPP). BFPP is characterized by disorganized cortical lamination that is most severe in frontal cortex. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Receptor, GPCR; GPCR, family 2; Cell adhesion

Chromosomal Location of Human Ortholog: 16q21

Cellular Component: integral to plasma membrane; integral to membrane

Molecular Function: collagen binding; G-protein coupled receptor activity; extracellular matrix binding

Biological Process: negative regulation of cell proliferation; G-protein coupled receptor protein signaling pathway; positive regulation of cell adhesion; cell-cell signaling; cerebral cortex radial glia guided migration; positive regulation of Rho protein signal transduction; angiogenesis; brain development; cell adhesion; layer formation in the cerebral cortex; Rho protein signal transduction

Disease: Polymicrogyria, Bilateral Frontoparietal; Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive