EFHD1

• Official Symbol: EFHD1
• Official Name: EF-hand domain family member D1
• Aliases and Previous Symbols: N/A
• Entrez ID: 80303
• UniProt: Q9BUP0
• Interactions: BioGRID
• PubMed articles: Open PubMed
• OMIM: Open OMIM

• Entrez 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].
• UniProt Summary: Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production (PubMed:26975899). May play a role in neuronal differentiation (By similarity). {ECO:0000250|UniProtKB:Q9D4J1, ECO:0000269|PubMed:26975899}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

• Essentiality Rank: 7595
• Expression level (log2 read counts): 0.18

Expression Distribution

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EFHD1 Expression in NALM6 Cells: 0.18