Gene: ANKHD1

Alternate names for this Gene: MASK|MASK1|PP2500|VBARP

Gene Summary: This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.3

Description of this Gene: ankyrin repeat and KH domain containing 1

Type of Gene: protein-coding

Gene: ANKHD1-EIF4EBP3

Alternate names for this Gene: MASK-BP3|MASK-BP3ARF

Gene Summary: The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.3

Description of this Gene: ANKHD1-EIF4EBP3 readthrough

Type of Gene: protein-coding