EFHC1

GENE INFORMATION

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Gene name

EFHC1

Synonyms

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)

52285106 - 52387892

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000096093 (version 75.37)

Entrez gene

114327

UniProt

Q5JVL4 (UniProt - Evidence at protein level)

neXtProt

NX_Q5JVL4

Antibodypedia

EFHC1 antibodies
 

PROTEIN VIEW

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EFHC1-001
 
EFHC1-002
 
EFHC1-201
 
EFHC1-202
 
 
 
 
 

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
EFHC1-002 ENSP00000434498
ENST00000480623
Q5JVL4
Show all »
Show » Show » 278 31.7 No 0
EFHC1-201 ENSP00000416492
ENST00000433625
H7C4B1
Show all »
Show » Show » 550 64.1 No 0
EFHC1-202 ENSP00000444521
ENST00000538167
Q5JVL4
Show all »
Show » Show » 621 72 No 0