======= BBS5 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BBS5
  * **<color #00a2e8>Official Name</color>**: Bardet-Biedl syndrome 5
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=129880|129880]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8N3I7|Q8N3I7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BBS5&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BBS5|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603650|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [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 BBSome complex ciliary localization but not for the proper complex assembly. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.

<button type='primary' 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'>
|DUF1448|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|BBSome|
|melanosome transport|
|pigment granule transport|
|establishment of melanosome localization|
|motile cilium assembly|
|establishment of pigment granule localization|
|melanosome localization|
|pigment granule localization|
|centriolar satellite|
|RNA polymerase II repressing transcription factor binding|
|phosphatidylinositol-3-phosphate binding|
|cellular pigmentation|
|ciliary membrane|
|heart looping|
|embryonic heart tube morphogenesis|
|determination of heart left/right asymmetry|
|embryonic heart tube development|
|intracellular|
|pigmentation|
|axoneme|
|determination of left/right symmetry|
|determination of bilateral symmetry|
|specification of symmetry|
|ciliary basal body|
|establishment of vesicle localization|
|vesicle localization|
|visual perception|
|sensory perception of light stimulus|
|heart morphogenesis|
|embryonic organ morphogenesis|
|epithelial tube morphogenesis|
|cilium assembly|
|establishment of organelle localization|
|cilium organization|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|heart development|
|tissue morphogenesis|
|embryonic morphogenesis|
|organelle localization|
|tube morphogenesis|
|organelle assembly|
|tube development|
|circulatory system development|
|animal organ morphogenesis|
|sensory perception|
|embryo development|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|nervous system process|
|protein transport|
|intracellular transport|
|peptide transport|
|amide transport|
|establishment of protein localization|
|tissue development|
|establishment of localization in cell|
|nitrogen compound 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:exp514|Phorbol-12-myristate-13-acetate 0.57μM R08 exp514]]|-2.08|
</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: 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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 13903
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.15 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BBS5 Expression in NALM6 Cells: 3.15'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>