DNAAF1 [The Human Chemical-Genetic Interaction Map Project]

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======= DNAAF1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DNAAF1
  * **<color #00a2e8>Official Name</color>**: dynein axonemal assembly factor 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=123872|123872]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8NEP3|Q8NEP3]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DNAAF1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DNAAF1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613190|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli. {ECO:0000269|PubMed:18385425, ECO:0000269|PubMed:19944400, ECO:0000269|PubMed:19944405}.

<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'>
|determination of pancreatic left/right asymmetry|
|determination of liver left/right asymmetry|
|determination of digestive tract left/right asymmetry|
|epithelial cilium movement involved in determination of left/right asymmetry|
|regulation of cilium beat frequency|
|inner dynein arm assembly|
|regulation of cilium movement|
|outer dynein arm assembly|
|left/right pattern formation|
|dynein complex binding|
|motile cilium assembly|
|epithelial cilium movement involved in extracellular fluid movement|
|extracellular transport|
|regulation of microtubule-based movement|
|axonemal dynein complex assembly|
|heart looping|
|cilium movement|
|axoneme assembly|
|embryonic heart tube morphogenesis|
|determination of heart left/right asymmetry|
|pancreas development|
|embryonic heart tube development|
|microtubule bundle formation|
|axoneme|
|determination of left/right symmetry|
|spindle pole|
|determination of bilateral symmetry|
|specification of symmetry|
|liver development|
|hepaticobiliary system development|
|digestive tract development|
|digestive system development|
|lung development|
|respiratory tube development|
|microtubule-based transport|
|respiratory system development|
|regulation of microtubule-based process|
|heart morphogenesis|
|microtubule-based movement|
|embryonic organ morphogenesis|
|epithelial tube morphogenesis|
|regionalization|
|cilium assembly|
|cilium organization|
|nuclear speck|
|gland development|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|microtubule cytoskeleton organization|
|heart development|
|tissue morphogenesis|
|embryonic morphogenesis|
|tube morphogenesis|
|microtubule-based process|
|organelle assembly|
|cellular protein-containing complex assembly|
|tube development|
|circulatory system development|
|animal organ morphogenesis|
|embryo development|
|regulation of cellular component movement|
|cytoskeleton organization|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|movement of cell or subcellular component|
|protein-containing complex assembly|
|tissue development|
|protein-containing complex subunit organization|
|extracellular region|
</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:exp222|Betulinic acid 10 to 15μM on day4 R05 exp222]]|-1.92|
|[[:results:exp152|SGC2043 10μM R03 exp152]]|1.92|
</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>**: 11632
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.62 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DNAAF1 Expression in NALM6 Cells: 3.62'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>