| Gene Information | |
|---|---|
| Gene Name | COH1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 4022 |
| Protein Names | Intermembrane lipid transfer protein VPS13B (Cohen syndrome protein 1) (Vacuolar protein sorting-associated protein 13B) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | NA |
| Gene Card | VPS13B |
| Uniprot ID | Q7Z7G8 |
| Pfam | PF12624; PF06650; PF16909 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed (PubMed:12730828). There is apparent differential expression of different transcripts (PubMed:12730828, PubMed:19006247). In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified (PubMed:12730828). These transcripts are also seen in all adult tissues analyzed (PubMed:12730828). A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult (PubMed:12730828). Expression is very low in adult brain tissue (PubMed:12730828). Expressed in peripheral blood lymphocytes (PubMed:33025479). Isoform 1 and isoform 2 are expressed in brain and retina (PubMed:12730828, PubMed:19006247). Isoform 2 is expressed ubiquitously (PubMed:12730828, PubMed:19006247). {ECO:0000269|PubMed:12730828, ECO:0000269|PubMed:19006247, ECO:0000269|PubMed:33025479}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | NA |
| DBSNP | rs144539572 rs1554625617 rs180177356 rs61753721 rs150185067 rs120074152 rs35342235 rs386834080 rs1554814266 rs386834086 rs386834088 rs139640224 rs371364257 rs120074149 rs386834104 rs201963516 rs7833870 rs120074153 rs777019428 rs180177370 rs120074155 rs371325199 rs386834113 rs28940272 rs6468694 rs191174682 rs1554581821 rs7460625 |
| Subcellular location [CC] | Recycling endosome membrane {ECO:0000250|UniProtKB:Q80TY5}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, acrosome membrane {ECO:0000250|UniProtKB:Q80TY5}; Peripheral membrane protein {ECO:0000305}. Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:21865173, ECO:0000269|PubMed:25492866}; Peripheral membrane protein {ECO:0000269|PubMed:21865173}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:21865173}; Peripheral membrane protein {ECO:0000269|PubMed:21865173}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:21865173}; Peripheral membrane protein {ECO:0000269|PubMed:21865173}. Early endosome membrane {ECO:0000269|PubMed:25492866}; Peripheral membrane protein {ECO:0000305}. Lysosome membrane {ECO:0000269|PubMed:25492866}; Peripheral membrane protein {ECO:0000305}. Note=Localizes to proacrosomal and acrosomal vesicles and not the Golgi apparatus during acrosome formation. {ECO:0000250|UniProtKB:Q80TY5}. |
| Mouse PG classification | NA |
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