AS250 is a 1,873 amino acid protein encoded by a gene which maps to human chromosome 20. Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis which are thought important for seminal production and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20.
Function:
Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB (By similarity).
Subunit:
Component of the heterodimeric RalGAP2 complex with RALGAPB. Heterodimerization is required for activity (By similarity).
Subcellular Location:
Cytoplasm.
Similarity:
Contains 1 Rap-GAP domain.
SWISS:
Q2PPJ7
Gene ID:
57186
Database links:
Entrez Gene: 57186 Human
Entrez Gene: 241694 Mouse
SwissProt: Q2PPJ7 Human
SwissProt: A3KGS3 Mouse
Unigene: 472285 Human
Unigene: 222310 Mouse
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