GeneID: 428
Names
| Common Name: | ARAP1 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 11 (NC_000011.10) | Locus: | NM_001040118.3 (ARAP1 ) |
| HUGO Symbol: | ARAP1 | Full Name: | ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 |
| Exons: | 35 | Introns: | 34 |
Description:
The encoded protein is a phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. ARAP1 has been implicated in the regulation of intracellular trafficking of the epidermal growth factor receptor (EGFR), a transmembrane protein involved in intracellular signaling that controls cellular functions such as cell proliferation, differentiation and migration. Genetic variant in ARAP1 associated with alloimmunization among red blood cell transfusion recipients with sickle cell disease.
Synonyms: CENTD2
Comments:
N/A
Number of entries/variants: 5
Publications / Origin
- Hanchard NA, Moulds JM, Belmont JW, Chen A, A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease., Transfus Med Hemother, 41(6), 453-61, 2014