| Gene Information | |
|---|---|
| Gene Name | EFHC1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 640 |
| Protein Names | EF-hand domain-containing protein 1 (Myoclonin-1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000096093 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q5JVL4 |
| Gene Card | EFHC1 |
| Uniprot ID | Q5JVL4 |
| Pfam | PF06565 |
| In ASD | no |
| Allosteric Prediction | no (-1.253039802) |
| Ortholog in Animals | Alpaca_ EFHC1 ( ortholog_one2one ) Dog_ EFHC1 ( ortholog_one2one ) GuineaPig_ EFHC1 ( ortholog_one2one ) Macaque_ EFHC1 ( ortholog_one2one ) Mouse_ Efhc1 ( ortholog_one2one ) Pig_ EFHC1 ( ortholog_one2one ) Rat_ Efhc1 ( ortholog_one2one ) Rabbit_ EFHC1 ( ortholog_one2one ) |
| Ohnologs | EFHC2 |
| Paralogs | EFHB, EFHC2 |
| Tissue | NA |
| Tissue Specificity | Widely expressed. Not detected in lymphocytes. {ECO:0000269|PubMed:15258581}. |
| Pharmacological Animal Models | NULL(Chimpanzee);0.001000(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs149055334 rs543160745 rs764096785 rs745600475 rs3804506 rs137852779 rs200191497 rs3804505 rs137852777 rs139197513 rs79761183 rs137852776 rs137852778 rs137852780 rs17851771 rs1570624 rs527295360 rs767833659 rs505760 rs371151471 rs377286138 rs1266787 rs779322943 rs527539103 rs772265107 rs17851770 rs142458862 rs574948354 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:22926142}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19734894, ECO:0000269|PubMed:22926142}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:28370826}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:E1BKH1}. |
| Mouse PG classification | HPG |
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