Expression of EFHC1 in cancer - Summary

CANCER ATLAS

Gene description

EF-hand domain (C-terminal) containing 1

Protein class

Disease related genes, Predicted intracellular proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA035307

GENE INFORMATION
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 83.38)
Entrez gene	114327
UniProt	Q5JVL4 (UniProt - Evidence at protein level)
neXtProt	NX_Q5JVL4
Antibodypedia	EFHC1 antibodies

PROTEIN BROWSER

EFHC1-001	EFHC1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
EFHC1-001 ENSP00000360107 ENST00000371068	Q5JVL4 [Direct mapping] EF-hand domain-containing protein 1 B2CKC5 [Target identity:100%; Query identity:100%] EF-hand domain (C-terminal) containing 1, isoform CRA_a; EF-hand domain containing 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005813 [centrosome] GO:0005929 [cilium] GO:0005930 [axoneme] GO:0008022 [protein C-terminus binding] GO:0021795 [cerebral cortex cell migration] GO:0043025 [neuronal cell body] GO:0072686 [mitotic spindle] Show all	640 aa 74 kDa	No	0
EFHC1-201 ENSP00000444521 ENST00000538167	Q5JVL4 [Direct mapping] EF-hand domain-containing protein 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005813 [centrosome] GO:0005930 [axoneme] GO:0008022 [protein C-terminus binding] GO:0021795 [cerebral cortex cell migration] GO:0043025 [neuronal cell body] GO:0072686 [mitotic spindle] Show all	621 aa 72 kDa	No	0