| Gene Information | |
|---|---|
| Gene Name | BBS4 |
| Organism | Homo sapiens (Human) |
| Gene Length | 519 |
| Protein Names | Bardet-Biedl syndrome 4 protein |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 950 ( ENSG00000140463 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q96RK4 |
| Gene Card | BBS4 |
| Uniprot ID | Q96RK4 |
| Pfam | PF13181 |
| In ASD | no |
| Allosteric Prediction | no (-0.32039486) |
| Ortholog in Animals | Alpaca_ BBS4 ( ortholog_one2one ) Macaque_ BBS4 ( ortholog_one2one ) Mouse_ Bbs4 ( ortholog_one2one ) Pig_ BBS4 ( ortholog_one2one ) Rat_ Bbs4 ( ortholog_one2one ) Rabbit_ BBS4 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | OGT, CFAP70, TTC34, TTC6, TMTC1, TTC16, TMTC4, TTC13, TTC7A, TMTC2, TMTC3, TTC8, IFT88, TTC7B |
| Tissue | NA |
| Tissue Specificity | Ubiquitously expressed. The highest level of expression is found in the kidney. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.123982(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6XT9 (EM 3.80A ) |
| DBSNP | rs75295839 rs1251827333 rs11638283 rs121434632 rs2277598 rs28938468 rs772548770 rs17852452 rs147202164 rs2277596 rs561284402 rs756419611 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cell projection, cilium membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q8C1Z7}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8C1Z7}. Note=Localizes to the pericentriolar material. Centrosomal localization requires dynein (By similarity). Localizes to the connecting cilium of photoreceptor cells (By similarity). {ECO:0000250|UniProtKB:Q8C1Z7}. |
| Mouse PG classification | NA |
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