ANKHD1, Official Symbol ANKHD1provided by HGNC Official Full Name ankyrin repeat and KH domain containing 1provided by HGNC Primary source HGNC:HGNC:24714 See related Ensembl:ENSG00000131503 MIM:610500; AllianceGenome:HGNC:24714 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MASK; MASK1; VBARP; PP2500 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. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in thyroid (RPKM 19.5), skin (RPKM 15.9) and 25 other tissues See more Orthologs mouse all