| Gene Information | |
|---|---|
| Gene Name | MVB12A |
| Organism | Homo sapiens (Human) |
| Gene Length | 273 |
| Protein Names | Multivesicular body subunit 12A (CIN85/CD2AP family-binding protein) (ESCRT-I complex subunit MVB12A) (Protein FAM125A) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000141971 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q96EY5 |
| Gene Card | MVB12A |
| Uniprot ID | Q96EY5 |
| Pfam | PF10240 |
| In ASD | no |
| Allosteric Prediction | no (-0.843265136) |
| Ortholog in Animals | Alpaca_ MVB12A ( ortholog_one2one ) Dog_ MVB12A ( ortholog_one2one ) GuineaPig_ MVB12A ( ortholog_one2one ) Macaque_ MVB12A ( ortholog_one2one ) Mouse_ Mvb12a ( ortholog_one2one ) Pig_ MVB12A ( ortholog_one2one ) Rat_ Mvb12a ( ortholog_one2one ) |
| Ohnologs | MVB12B |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Ubiquitously expressed except in skeletal muscle. {ECO:0000269|PubMed:16895919}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6VME (X-ray 2.19A ) |
| DBSNP | rs34949802 |
| Subcellular location [CC] | Cytoplasm. Nucleus. Endosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Late endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Colocalizes with F-actin. Some fraction may be nuclear. |
| Mouse PG classification | NA |
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