EFHD1

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]

Description

EF-hand domain family member D1

Tissue specificity

Tissue enhanced (brain)

Subcell location

Nucleoli fibrillar center, Golgi apparatus

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (232606057 - 232682780)

Ensembl ID

ENSG00000115468  (ver. 103.38)

Orthologs

Mouse Efhd1: ENSMUSG00000026255

UniProt

Q9BUP0

neXtProt

NX_Q9BUP0

Human splice variants
Mouse splice variants

Protein structure