EFHC1

GENE INFORMATION

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Gene name

EFHC1 (HGNC Symbol)

Synonyms

EJM, EJM1, FLJ10466

Description

EF-hand domain (C-terminal) containing 1 (HGNC Symbol)

Entrez gene summary

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

Chromosome

6

Cytoband

p12.2

Chromosome location (bp)

52420308 - 52495785

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000096093 (version 78.38)

Entrez gene

114327

UniProt

Q5JVL4 (UniProt - Evidence at protein level)

neXtProt

NX_Q5JVL4

Antibodypedia

EFHC1 antibodies
 

PROTEIN VIEW

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EFHC1-001
 
EFHC1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EFHC1-001 ENSP00000360107
ENST00000371068
Q5JVL4
Show all »
Show » Show » 640 74 No 0
EFHC1-201 ENSP00000444521
ENST00000538167
Q5JVL4
Show all »
Show » Show » 621 72 No 0