Version 5.4
| Homo sapiens Protein: EFHC1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-90624.6 | ||||||||||||||||||
| 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 | ENSP00000360107 | ||||||||||||||||||
| InnateDB Gene | IDBG-90622 (EFHC1) | ||||||||||||||||||
| Protein Structure |
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| 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.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR002048
EF-hand domain IPR006602 Uncharacterised domain DM10 IPR010554 Protein of unknown function DUF1126 |
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| PFAM |
PF00036
PF13202 PF13405 PF06565 |
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| PRINTS | |||||||||||||||||||
| PIRSF | |||||||||||||||||||
| SMART |
SM00054
SM00676 |
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| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q5JVL4 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q5JVL4 | ||||||||||||||||||
| TrEMBL | B2CKC5 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 114327 | ||||||||||||||||||
| UniGene | Hs.603726 | ||||||||||||||||||
| RefSeq | NP_060570 | ||||||||||||||||||
| HUGO | HGNC:16406 | ||||||||||||||||||
| OMIM | 608815 | ||||||||||||||||||
| CCDS | CCDS4942 | ||||||||||||||||||
| HPRD | 10583 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AK001328 AK297632 AL049611 AL136125 AY608689 AY608690 BC020210 CH471081 EU520261 | ||||||||||||||||||
| GenPept | AAH20210 AAT67418 AAT67419 ACB20691 BAA91628 BAG60005 CAI19693 CAI20107 EAX04370 | ||||||||||||||||||