EFHC1 EF-hand domain (C-terminal) containing 1 [Homo sapiens (human)]
| Gene Symbol | EFHC1 |
| Entrez Gene ID | 114327 |
| Full Name | EF-hand domain (C-terminal) containing 1 |
| Synonyms | FLJ10466, FLJ37290, dJ304B14.2 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
6 6p12.3 |
| 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]. |
| Disorder | MIM: 608815 {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3); |
| mRNA | NM_018100, 156616291 |
| Protein | NP_060570, 156616292 |
| Product | EF-hand domain-containing protein 1 isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001172420, 289063385 |
| Protein | NP_001165891, 289063386 |
| Product | EF-hand domain-containing protein 1 isoform 2 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | EFHC1 | NP_060570.2 |
| Pan troglodytes (chimpanzee) | EFHC1 | XP_001152433.1 |
| Canis lupus familiaris (dog) | EFHC1 | XP_532170.2 |
| Bos taurus (cattle) | EFHC1 | XP_587226.2 |
| Mus musculus (house mouse) | Efhc1 | XP_129694.7 |
| Rattus norvegicus (Norway rat) | Efhc1 | XP_217363.4 |
| Gallus gallus (chicken) | EFHC1 | XP_420047.2 |
| Danio rerio (zebrafish) | efhc1 | NP_957261.1 |
| ID | Name | Evidence |
| GO:0005929 | cilium | IEA |
| GO:0005930 | axoneme | ISS |
| GO:0019861 | flagellum | IEA |
| GO:0043025 | neuronal cell body | ISS |
Function
| ID | Name | Evidence |
| GO:0005509 | calcium ion binding | IEA |
| GO:0008022 | protein C-terminus binding | ISS |
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