Homo sapiens Gene: EFHC1
Summary
InnateDB Gene IDBG-90622.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EFHC1
Gene Name EF-hand domain (C-terminal) containing 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000096093
Encoded Proteins
EF-hand domain (C-terminal) containing 1
EF-hand domain (C-terminal) containing 1
EF-hand domain (C-terminal) containing 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:52420308-52495785
Strand Forward strand
Band p12.2
Transcripts
ENST00000371068 ENSP00000360107
ENST00000480623 ENSP00000434498
ENST00000491749
ENST00000481466
ENST00000538167 ENSP00000444521
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0008022 protein C-terminus binding
Biological Process
Cellular Component
GO:0005929 cilium
GO:0005930 axoneme
GO:0043025 neuronal cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.603726
RefSeq NM_001172420 NM_018100
HUGO
OMIM
CCDS CCDS4942 CCDS55021
HPRD 10583
IMGT
EMBL
GenPept
RNA Seq Atlas