Aliases for ADGRG1 Gene
External Ids for ADGRG1 Gene
Previous HGNC Symbols for ADGRG1 Gene
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]
GeneCards Summary for ADGRG1 Gene
ADGRG1 (Adhesion G Protein-Coupled Receptor G1) is a Protein Coding gene. Diseases associated with ADGRG1 include Polymicrogyria, Bilateral Frontoparietal and Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive. Among its related pathways are GPCRs, Other. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and collagen binding. An important paralog of this gene is ADGRG5.
UniProtKB/Swiss-Prot for ADGRG1 Gene
Receptor involved in cell adhesion and probably in cell-cell interactions. Mediates cell matrix adhesion in developing neurons and hematopoietic stem cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical development, specifically in maintenance of the pial basement membrane integrity and in cortical lamination (By similarity). Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and possibly GNA12 (PubMed:22238662). Plays a role in the maintenance of hematopoietic stem cells and/or leukemia stem cells in bone marrow niche (By similarity). Plays a critical role in cancer progression by inhibiting VEGFA production threreby inhibiting angiogenesis through a signaling pathway mediated by PRKCA (PubMed:16757564, PubMed:21724588). Plays an essential role in testis development (By similarity).
ADGRG1 N-terminal fragment: Plays a critical role in cancer progression by activating VEGFA production and angiogenesis through a signaling pathway mediated by PRKCA (PubMed:21724588).