EFHD1, Official Symbol EFHD1provided by HGNC Official Full Name EF-hand domain family member D1provided by HGNC Primary source HGNC:HGNC:29556 See related Ensembl:ENSG00000115468 MIM:611617; AllianceGenome:HGNC:29556 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 SWS2; MST133; PP3051; MSTP133 Summary This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Expression Biased expression in kidney (RPKM 68.5), placenta (RPKM 36.8) and 12 other tissues See more Orthologs mouse all