| Gene Information | |
|---|---|
| Gene Name | PTHB1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 887 |
| Protein Names | Protein PTHB1 (Bardet-Biedl syndrome 9 protein) (Parathyroid hormone-responsive B1 gene protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q3SYG4 |
| Gene Card | BBS9 |
| Uniprot ID | Q3SYG4 |
| Pfam | PF14728; PF14727 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. {ECO:0000269|PubMed:10221542, ECO:0000269|PubMed:16380913}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.169491(Rat);0.143590(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4YD8 (X-ray 1.80A ) 6XT9 (EM 3.80A ) |
| DBSNP | rs4498440 rs137852857 rs11773504 rs764873070 rs34218557 rs59252892 rs116262072 rs142434516 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. |
| Mouse PG classification | NA |
| click here to return to the previous page | |