BBS7 [The Human Chemical-Genetic Interaction Map Project]

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======= BBS7 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BBS7
  * **<color #00a2e8>Official Name</color>**: Bardet-Biedl syndrome 7
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55212|55212]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8IWZ6|Q8IWZ6]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BBS7&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BBS7|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607590|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]. 
  * **<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. {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'>
|primary palate development|
|pigment granule aggregation in cell center|
|BBSome|
|melanosome transport|
|pigment granule transport|
|establishment of melanosome localization|
|establishment of pigment granule localization|
|melanosome localization|
|pigment granule localization|
|RNA polymerase II repressing transcription factor binding|
|non-motile cilium assembly|
|cellular pigmentation|
|digestive tract morphogenesis|
|ciliary membrane|
|photoreceptor outer segment|
|heart looping|
|determination of heart left/right asymmetry|
|embryonic heart tube morphogenesis|
|smoothened signaling pathway|
|embryonic heart tube development|
|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|
|roof of mouth development|
|pigmentation|
|positive regulation of ubiquitin-dependent protein catabolic process|
|axoneme|
|positive regulation of proteasomal protein catabolic process|
|fat cell differentiation|
|determination of left/right symmetry|
|positive regulation of proteolysis involved in cellular protein catabolic process|
|determination of bilateral symmetry|
|regulation of proteasomal ubiquitin-dependent protein catabolic process|
|specification of symmetry|
|digestive tract development|
|ciliary basal body|
|positive regulation of cellular protein catabolic process|
|digestive system development|
|regulation of ubiquitin-dependent protein catabolic process|
|establishment of vesicle localization|
|limb development|
|appendage development|
|regulation of proteasomal protein catabolic process|
|vesicle localization|
|positive regulation of protein catabolic process|
|regulation of proteolysis involved in cellular protein catabolic process|
|visual perception|
|sensory perception of light stimulus|
|regulation of cellular protein catabolic process|
|heart morphogenesis|
|embryonic organ morphogenesis|
|epithelial tube morphogenesis|
|neuron projection|
|cilium assembly|
|positive regulation of proteolysis|
|eye development|
|visual system development|
|establishment of organelle localization|
|positive regulation of cellular catabolic process|
|cilium organization|
|sensory system development|
|regulation of protein catabolic process|
|morphogenesis of an epithelium|
|positive regulation of catabolic process|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|centrosome|
|heart development|
|sensory organ development|
|tissue morphogenesis|
|embryonic morphogenesis|
|organelle localization|
|tube morphogenesis|
|regulation of proteolysis|
|brain development|
|organelle assembly|
|head development|
|regulation of cellular catabolic process|
|tube development|
|circulatory system development|
|animal organ morphogenesis|
|sensory perception|
|embryo development|
|central nervous system development|
|regulation of catabolic process|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|nervous system process|
|protein transport|
|intracellular transport|
|peptide transport|
|amide transport|
|positive regulation of cellular protein metabolic process|
|establishment of protein localization|
|positive regulation of protein metabolic process|
|tissue development|
|establishment of localization in cell|
|nitrogen compound transport|
|system process|
|membrane|
</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:exp279|D-Fructose 10000μM R06 exp279]]|-1.93|
|[[:results:exp281|Disulfiram 4.3μM R06 exp281]]|-1.84|
|[[:results:exp208|Vinblastine 0.015μM R05 exp208]]|-1.75|
|[[:results:exp61|YM155 0.0002μM R01 exp61]]|-1.7|
|[[:results:exp19|Etoposide 1μM R00 exp19]]|1.7|
|[[:results:exp130|JQ1 0.01μM R03 exp130]]|1.74|
|[[:results:exp14|Cycloheximide 0.02μM R00 exp14]]|1.95|
</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>**: 16663
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.74 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BBS7 Expression in NALM6 Cells: 4.74'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>