ADGRG1
Function
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).
Involvement in disease
Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal)
CDCBM14A
An autosomal recessive disorder characterized by global developmental delay with impaired intellectual development, motor delay, poor speech, cerebellar and pyramidal signs, truncal ataxia, and early-onset seizures. Brain imaging shows bilateral frontoparietal polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is considered to be the result of postmigratory abnormal cortical organization.
None
The disease is caused by variants affecting the gene represented in this entry.
Cortical dysplasia, complex, with other brain malformations 14B (bilateral perisylvian)
CDCBM14B
An autosomal recessive disorder characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. It is considered to be the result of postmigratory abnormal cortical organization.
None
The disease is caused by variants affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the ADGRG1 non-coding exon 1m transcription start site, results in impaired perisylvian ADGRG1 expression and disruption of perisylvian gyri (PubMed:24531968).
Post-translational modifications
Autoproteolytically cleaved into 2 fragments; the large extracellular N-terminal fragment (ADGRG1 NT) and the membrane-bound C-terminal fragment (ADGRG1 CT) predominantly remain associated and non-covalently linked. Shedding to yield the secreted ADGRG1 N-terminal fragment seems to involve metalloprotease(s) (PubMed:22333914).
N-glycosylated. Contains sialic acid residues.
Ubiquitinated. Undergoes polyubiquitination upon activation.
Sequence Similarities
Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Tissue Specificity
Widely distributed with highest levels found in thyroid gland, brain and heart. Expressed in a great number of tumor cells. Expression is down-regulated in different tumors from highly metastatic cells.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- ADGRG1 N-terminal fragment
- Secreted
- ADGRG1 C-terminal fragment
- Membrane raft
- Interaction with its ligand COL3A1 leads to the release of ADGRG1 NT from the membrane and triggers the association of ADGRG1 CT with lipid rafts.
Alternative names
GPR56, TM7LN4, TM7XN1, UNQ540/PRO1083, ADGRG1, Adhesion G-protein coupled receptor G1, G-protein coupled receptor 56, Protein TM7XN1