| Gene Information | |
|---|---|
| Gene Name | BBS6 |
| Organism | Homo sapiens (Human) |
| Gene Length | 570 |
| Protein Names | Molecular chaperone MKKS (Bardet-Biedl syndrome 6 protein) (McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9NPJ1 |
| Gene Card | MKKS |
| Uniprot ID | Q9NPJ1 |
| Pfam | PF00118 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed in adult and fetal tissues. |
| Pharmacological Animal Models | 0.011670(Chimpanzee);0.087805(Mouse);0.001516(Rat);0.070000(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs74315396 rs766132697 rs528833454 rs28937875 rs74315399 rs281797258 rs1297985227 rs138111422 rs760185677 rs74315394 rs74315398 rs756083063 rs137853156 rs137853909 rs779116830 rs912923677 rs61734546 rs142327258 rs137853155 rs1547 rs149051148 rs1545 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol {ECO:0000269|PubMed:28753627}. Nucleus {ECO:0000269|PubMed:28753627}. Note=The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome. |
| Mouse PG classification | NA |
| click here to return to the previous page | |