| Entrez Gene ID |
9620 (NCBI Gene) |
| Official Gene Symbol |
CELSR1 (GeneCards) |
| Number of variants in CELSR1 in this database |
2 (view all the variants) |
| Full name |
cadherin EGF LAG seven-pass G-type receptor 1 |
| Band |
22q13.31 |
| Other IDs |
Vega:
OTTHUMG00000150423
OMIM:
604523
HGNC:
HGNC:1850
Ensembl:
ENSG00000075275
|
| Other names |
ME2,
FMI2,
CDHF9,
HFMI2,
ADGRC1
|
| Summary |
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008] |