======= ALMS1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ALMS1
  * **<color #00a2e8>Official Name</color>**: ALMS1 centrosome and basal body associated protein
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7840|7840]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8TCU4|Q8TCU4]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ALMS1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ALMS1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606844|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. {ECO:0000269|PubMed:17954613}.

<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'>
|alpha-actinin binding|
|regulation of centriole replication|
|regulation of centrosome duplication|
|regulation of centrosome cycle|
|regulation of stress fiber assembly|
|regulation of actomyosin structure organization|
|regulation of actin filament bundle assembly|
|ciliary basal body-plasma membrane docking|
|positive regulation of cold-induced thermogenesis|
|spindle pole|
|G2/M transition of mitotic cell cycle|
|cell cycle G2/M phase transition|
|centriole|
|regulation of cold-induced thermogenesis|
|organelle localization by membrane tethering|
|membrane docking|
|regulation of microtubule cytoskeleton organization|
|regulation of G2/M transition of mitotic cell cycle|
|cilium|
|regulation of cell cycle G2/M phase transition|
|regulation of organelle assembly|
|regulation of microtubule-based process|
|endosomal transport|
|regulation of actin filament organization|
|mitotic cell cycle phase transition|
|cell cycle phase transition|
|regulation of actin cytoskeleton organization|
|cilium assembly|
|regulation of supramolecular fiber organization|
|cilium organization|
|regulation of actin filament-based process|
|regulation of mitotic cell cycle phase transition|
|plasma membrane bounded cell projection assembly|
|regulation of cell cycle phase transition|
|cell projection assembly|
|centrosome|
|regulation of cytoskeleton organization|
|organelle localization|
|mitotic cell cycle process|
|regulation of mitotic cell cycle|
|mitotic cell cycle|
|regulation of cell cycle process|
|organelle assembly|
|molecular function|
|regulation of cellular component biogenesis|
|cell cycle process|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|regulation of cell cycle|
|regulation of organelle organization|
|cell cycle|
|intracellular transport|
|positive regulation of multicellular organismal process|
|establishment of localization in cell|
|vesicle-mediated transport|
</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:exp135|MS023 7μM R03 exp135]]|-2.21|
|[[:results:exp151|SGC0946 7μM R03 exp151]]|-2.16|
|[[:results:exp346|CoCl2 18μM R07 exp346]]|-1.92|
|[[:results:exp521|Salinomycin 3.5μM R08 exp521]]|-1.83|
|[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|-1.81|
|[[:results:exp160|Ribavirin 10 to 15μM on day4 R04 exp160]]|-1.76|
|[[:results:exp198|Etoposide 0.1μM R05 exp198]]|-1.75|
|[[:results:exp175|3-Bromopyruvate 7μM R04 exp175]]|1.77|
|[[:results:exp430|Rifampicin 30μM R08 exp430]]|1.79|
|[[:results:exp390|Pifithrin-alpha 20μM R07 exp390]]|1.8|
|[[:results:exp49|NFN1 0.1μM R01 exp49]]|2.24|
|[[:results:exp170|Metformin 100 to 150μM on day4 R04 exp170]]|2.28|
</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>**: 8886
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.83 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ALMS1 Expression in NALM6 Cells: 6.83'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>