Version 5.4
Homo sapiens Protein: EFHC1
Summary
InnateDB Protein IDBP-603271.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EFHC1
Protein Name EF-hand domain (C-terminal) containing 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000434498
InnateDB Gene IDBG-90622 (EFHC1)
Protein Structure
UniProt Annotation
Function May enhance calcium influx through CACNA1E and stimulate programmed cell death. {ECO:0000269PubMed:15258581}.
Subcellular Localization
Disease Associations Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269PubMed:15258581, ECO:0000269PubMed:17634063}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Juvenile absence epilepsy 1 (JAE1) [MIM:607631]: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic- clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. Not detected in lymphocytes. {ECO:0000269PubMed:15258581}.
Comments
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:0005930 axoneme
GO:0043025 neuronal cell body
Protein Structure and Domains
PDB ID
InterPro IPR006602 Uncharacterised domain DM10
IPR010554 Protein of unknown function DUF1126
PFAM PF06565
PRINTS
PIRSF
SMART SM00676
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q5JVL4
PhosphoSite PhosphoSite-Q5JVL4
TrEMBL
UniProt Splice Variant
Entrez Gene 114327
UniGene Hs.603726
RefSeq
HUGO HGNC:16406
OMIM 608815
CCDS
HPRD 10583
IMGT
EMBL AK001328 AK297632 AL049611 AL136125 AY608689 AY608690 BC020210
GenPept AAH20210 AAT67418 AAT67419 BAA91628 BAG60005 CAI19693 CAI20107

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca