======= BBS1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BBS1
  * **<color #00a2e8>Official Name</color>**: Bardet-Biedl syndrome 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=582|582]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8NFJ9|Q8NFJ9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BBS1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BBS1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/209901|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization (PubMed:17574030, PubMed:22072986). Plays a role in olfactory cilium biogenesis/maintenance and trafficking (By similarity). {ECO:0000250|UniProtKB:Q3V3N7, ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.

<button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|smoothened binding|
|patched binding|
|BBSome|
|Golgi to plasma membrane protein transport|
|RNA polymerase II repressing transcription factor binding|
|photoreceptor cell maintenance|
|non-motile cilium assembly|
|protein localization to cilium|
|establishment of protein localization to plasma membrane|
|ciliary membrane|
|Golgi to plasma membrane transport|
|retina homeostasis|
|vesicle-mediated transport to the plasma membrane|
|post-Golgi vesicle-mediated transport|
|axoneme|
|ciliary basal body|
|protein localization to plasma membrane|
|tissue homeostasis|
|visual perception|
|sensory perception of light stimulus|
|protein localization to cell periphery|
|establishment of protein localization to membrane|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|cilium assembly|
|cilium organization|
|Golgi vesicle transport|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|sensory perception of smell|
|protein localization to membrane|
|centrosome|
|sensory perception of chemical stimulus|
|protein localization to organelle|
|organelle assembly|
|sensory perception|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|nervous system process|
|protein transport|
|peptide transport|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|homeostatic process|
|nitrogen compound transport|
|vesicle-mediated transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp422|Wiskostatin 3μM R07 exp422]]|1.72|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^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|1/16|
|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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 15467
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.75 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BBS1 Expression in NALM6 Cells: 3.75'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>