Aliases for ANKHD1 Gene
External Ids for ANKHD1 Gene
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. [provided by RefSeq, Sep 2010]
GeneCards Summary for ANKHD1 Gene
ANKHD1 (Ankyrin Repeat And KH Domain Containing 1) is a Protein Coding gene. Diseases associated with ANKHD1 include hiv-1. GO annotations related to this gene include RNA binding. An important paralog of this gene is TANC1.
UniProtKB/Swiss-Prot for ANKHD1 Gene
May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases.