======= DNAAF1 ======= == Gene Information == * **Official Symbol**: DNAAF1 * **Official Name**: dynein axonemal assembly factor 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=123872|123872]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8NEP3|Q8NEP3]] * **Interactions**: [[https://thebiogrid.org/search.php?search=DNAAF1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DNAAF1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/613190|Open OMIM]] == Function Summary == * **Entrez Summary**: 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]. * **UniProt Summary**: 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}. No Pfam Domain information is available for this gene. |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| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp222|Betulinic acid 10 to 15μM on day4 R05 exp222]]|-1.92| |[[:results:exp152|SGC2043 10μM R03 exp152]]|1.92| No correlation found to any other genes in chemogenomics. 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| == Essentiality in NALM6 == * **Essentiality Rank**: 11632 * **Expression level (log2 read counts)**: 3.62 {{:chemogenomics:nalm6 dist.png?nolink |}}