EFHD1

Protein identityUniProt · HPA

UniProt accession

Q9BUP0

Gene

EFHD1

Ensembl

ENSG00000115468

Chromosome

2

Canonical length

239 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nucleoli fibrillar center,Golgi apparatus

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

239 residues, UniProt reviewed canonical sequence.

>Q9BUP0|EFHD1
     1  MASEELACKL ERRLRREEAE ESGPQLAPLG APAPEPKPEP EPPARAPTAS ADAELSAQLS
    61  RRLDINEGAA RPRRCRVFNP YTEFPEFSRR LIKDLESMFK LYDAGRDGFI DLMELKLMME
   121  KLGAPQTHLG LKSMIKEVDE DFDGKLSFRE FLLIFHKAAA GELQEDSGLM ALAKLSEIDV
   181  ALEGVKGAKN FFEAKVQALS SASKFEAELK AEQDERKREE EERRLRQAAF QKLKANFNT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EFHD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

325 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.49

gnomAD pLI

0.01

gnomAD missense Z

0.13

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• neuron projection development
• regulation of cellular hyperosmotic salinity response

Molecular functions

• calcium ion binding
• calcium ion sensor activity

Cellular components

• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• EF-hand domain
• EF-hand domain pair
• EF-hand domain-containing protein D1/2
• EF-hand domain pair

KeywordsUniProt

• Calcium
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• Phosphoprotein
• Repeat