| Gene Information | |
|---|---|
| Gene Name | BBS1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 593 |
| Protein Names | Bardet-Biedl syndrome 1 protein (BBS2-like protein 2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000174483 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q8NFJ9 |
| Gene Card | BBS1 |
| Uniprot ID | Q8NFJ9 |
| Pfam | PF14779 |
| In ASD | no |
| Allosteric Prediction | no (-1.000110413) |
| Ortholog in Animals | Alpaca_ BBS1 ( ortholog_one2one ) Dog_ BBS1 ( ortholog_one2one ) GuineaPig_ BBS1 ( ortholog_one2one ) Mouse_ Bbs1 ( ortholog_one2one ) Pig_ BBS1 ( ortholog_one2one ) Rat_ Bbs1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.168767(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6XT9 (EM 3.80A ) |
| DBSNP | rs775990952 rs766602837 rs200688985 rs376894444 rs146052054 rs35520756 rs151203205 rs942862410 rs113624356 rs778225393 rs121917778 rs863224782 rs544767888 |
| Subcellular location [CC] | Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. |
| Mouse PG classification | NA |
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