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Bardet-Biedl syndrome 9
Summary
- Gene Symbol
-
- BBS9
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Bardet-Biedl syndrome
- Cell membrane
- Chromosomal rearrangement
- Cilium
- Cilium biogenesis/degradation
- Coiled coil
- Cytoskeleton
- Disease variant
- Intellectual disability
- Obesity
- Protein transport
- Proteomics identification
- Reference proteome
- Vision
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A090N7W2 |
|
| A0A5F9ZGY2 |
|
| Q3SYG4 |
|
| A0A5F9ZH74 |
|
| A0A5F9ZH14 |
|
| A0A090N8P4 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| visual perception | ||
| protein transport | ||
| fat cell differentiation | ||
| cilium assembly | ||
| cilium assembly |
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- PTHB1
- Functional Category
-
- M: Cell wall/membrane/envelope biogenesis
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| InterPro |
|---|
| PTHB1, C-terminal domain |
| PTHB1, N-terminal domain |
| Parathyroid hormone-responsive B1 |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110131 | Bardet-Biedl syndrome 9 | |
| DOID:1935 | Bardet-Biedl syndrome | |
| DOID:2340 | craniosynostosis | |
| DOID:5426 | primary ovarian insufficiency |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 27241 | Xenbase:XB-GENE-954596 | ||
| 315484 | RATNO40405 | ||
| 319845 | Xenbase:XB-GENE-954596 | MOUSE63526 | |
| 463341 | PANTR39995 | ||
| 482393 | CANLF03809 | ||
| 535387 | BOVIN28061 | ||
| 708412 | MACMU31408 | ||
| 100055338 | HORSE33386 | ||
| 100076334 | ORNAN14384 | ||
| 100221626 | TAEGU16988 |
