| Gene Information | |
|---|---|
| Gene Name | CHAC |
| Organism | Homo sapiens (Human) |
| Gene Length | 3174 |
| Protein Names | Intermembrane lipid transfer protein VPS13A (Chorea-acanthocytosis protein) (Chorein) (Vacuolar protein sorting-associated protein 13A) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | NA |
| Gene Card | VPS13A |
| Uniprot ID | Q96RL7 |
| Pfam | PF09333; PF12624; PF06650; PF16908; PF16909; PF16910 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in red blood cells (at protein level) (PubMed:31086825). Widely expressed, with high expression in brain, heart, skeletal muscle and kidney (PubMed:15498460). {ECO:0000269|PubMed:15498460, ECO:0000269|PubMed:31086825}. |
| Pharmacological Animal Models | 0.070380(Chimpanzee);0.070650(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs119477052 rs119477053 rs771004767 rs761923202 rs771943305 rs766404788 rs78048112 rs200280742 rs1193250444 rs76077278 rs149840356 rs1369905878 rs41289969 rs1400127478 rs141138349 rs1055609567 rs781395681 rs199807227 rs148173878 rs75740713 |
| Subcellular location [CC] | Mitochondrion outer membrane {ECO:0000269|PubMed:30093493, ECO:0000269|PubMed:30709847, ECO:0000269|PubMed:30741634}; Peripheral membrane protein {ECO:0000269|PubMed:30741634}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:30709847, ECO:0000269|PubMed:30741634, ECO:0000269|PubMed:32845802}; Peripheral membrane protein {ECO:0000269|PubMed:30741634}. Endosome membrane {ECO:0000269|PubMed:30709847}; Peripheral membrane protein {ECO:0000305}. Lysosome membrane {ECO:0000269|PubMed:30709847}; Peripheral membrane protein {ECO:0000305}. Lipid droplet {ECO:0000269|PubMed:30093493, ECO:0000269|PubMed:30709847, ECO:0000269|PubMed:30741634, ECO:0000269|PubMed:32845802}. Golgi apparatus {ECO:0000250|UniProtKB:Q5H8C4}. Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle {ECO:0000250|UniProtKB:Q5H8C4}. Note=Localizes at mitochondria-endosomes and mitochondria-endoplasmic reticulum contact sites (PubMed:30741634, PubMed:30709847, PubMed:30093493). {ECO:0000269|PubMed:30093493, ECO:0000269|PubMed:30709847, ECO:0000269|PubMed:30741634}. |
| Mouse PG classification | NA |
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