BBS10 [The Human Chemical-Genetic Interaction Map Project]

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======= BBS10 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BBS10
  * **<color #00a2e8>Official Name</color>**: Bardet-Biedl syndrome 10
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79738|79738]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8TAM1|Q8TAM1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BBS10&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BBS10|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610148|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation. {ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}.

<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'>
|Cpn60 TCP1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|chaperone-mediated protein complex assembly|
|RNA polymerase II repressing transcription factor binding|
|photoreceptor cell maintenance|
|non-motile cilium assembly|
|retina homeostasis|
|tissue homeostasis|
|cilium|
|visual perception|
|sensory perception of light stimulus|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|cilium assembly|
|cilium organization|
|plasma membrane bounded cell projection assembly|
|regulation of protein complex assembly|
|cell projection assembly|
|organelle assembly|
|cellular protein-containing complex assembly|
|regulation of cellular component biogenesis|
|sensory perception|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|nervous system process|
|ATP binding|
|protein-containing complex assembly|
|homeostatic process|
|protein-containing complex subunit organization|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 14698
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.4 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BBS10 Expression in NALM6 Cells: 4.4'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>