======= BBIP1 =======
== Gene Information ==
* **Official Symbol**: BBIP1
* **Official Name**: BBSome interacting protein 1
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=92482|92482]]
* **UniProt**: [[https://www.uniprot.org/uniprot/A8MTZ0|A8MTZ0]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=BBIP1&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BBIP1|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/613605|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014].
* **UniProt Summary**: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation. {ECO:0000269|Ref.4}.
No Pfam Domain information is available for this gene.
|receptor localization to non-motile cilium|
|protein localization to ciliary membrane|
|BBSome|
|protein localization to non-motile cilium|
|protein localization to cilium|
|protein localization to cell periphery|
|cilium assembly|
|cilium organization|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|protein localization to membrane|
|protein localization to organelle|
|organelle assembly|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|protein transport|
|peptide transport|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|nitrogen compound transport|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp433|LJH685 50μM R08 exp433]]|-2.35|
|[[:results:exp345|Cidofovir 10μM R07 exp345]]|1.8|
|[[:results:exp421|VHL-ligand-1 20μM R07 exp421]]|1.89|
|[[:results:exp135|MS023 7μM R03 exp135]]|1.94|
|[[:results:exp124|GSK343 3μM R03 exp124]]|2|
|[[:results:exp103|Taxol 0.004μM R03 exp103]]|2.02|
No correlation found to any other genes in chemogenomics.
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 18917
* **Expression level (log2 read counts)**: 4.45
{{:chemogenomics:nalm6 dist.png?nolink |}}