Ankyrin repeat & KH domain-containing protein 1 (multiple ankyrin repeats single KH domain, HIV-1 Vpr-binding ankyrin repeat protein, hMASK, ANKHD1, KIAA1085, MASK, VBARP, PP2500)
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Function
- may play a role as a scaffolding protein
- isoform 2 may possess an antiapoptotic effect & protect cells during normal cell survival through its regulation of caspases
- interacts with PTPN11
- isoform 2 interacts with VPR
Structure
- belongs to the mask family
- contains 25 ANK repeats
- contains 1 KH domain
Compartment
Alternative splicing
named isoforms=5
Expression
- ubiquitous
- high expression in cervix, spleen & brain.
- expressed in hematopoietic cells
- isoform 2 is highly expressed in spleen with almost no expression in muscle & brain
Pathology
- increased expression in leukemia cells
- may be associated with the abnormal phenotype of leukemia cells