DNAI1

DNAI1
Identifiers
Aliases	DNAI1, CILD1, DIC1, ICS1, PCD, dynein axonemal intermediate chain 1
External IDs	OMIM: 604366; MGI: 1916172; HomoloGene: 8122; GeneCards: DNAI1; OMA:DNAI1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9p13.3 Start 34,457,414 bp[1] End 34,520,988 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 A5 Start 41,569,775 bp[2] End 41,638,158 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell left testis right testis olfactory zone of nasal mucosa anterior pituitary mucosa of paranasal sinus testicle sperm right lung Top expressed in lumbar subsegment of spinal cord spermatid spermatocyte seminiferous tubule interventricular septum yolk sac morula embryo visual cortex neural layer of retina More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cytoskeletal motor activity protein binding plus-end-directed microtubule motor activity dynein light chain binding dynein heavy chain binding Cellular component cytoplasm dynein complex cell projection microtubule cytoskeleton outer dynein arm cilium Biological process flagellated sperm motility cilium movement determination of left/right symmetry outer dynein arm assembly cell projection organization microtubule-based movement Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27019 68922 Ensembl ENSG00000122735 ENSMUSG00000061322 UniProt Q9UI46 Q5T8G8 Q8C0M8 RefSeq (mRNA) NM_001281428 NM_012144 NM_175138 RefSeq (protein) NP_001268357 NP_036276 NP_780347 Location (UCSC) Chr 9: 34.46 – 34.52 Mb Chr 4: 41.57 – 41.64 Mb PubMed search [3] [4]
Wikidata
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Dynein axonemal intermediate chain 1 is a protein that in humans is encoded by the DNAI1 gene.^[5][6]

The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. This gene encodes an intermediate chain dynein, belonging to the large family of motor proteins. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia (PCD) and Kartagener syndrome. The DNAI1 gene is involved in the development of proper respiratory function, motility of spermatozoa, and asymmetrical organization of the viscera during embryogenesis. This gene affects these three very different aspects of development because all three are dependent on proper cilia function. DNAI1 codes for the development of cilia ultrastructure in the upper and lower respiratory tracts, spermatozoa flagellae, and nodal cilia (cilia of the primitive node). DNAI1 specifically encodes for an intermediate chain of the outer dynein arm. Each dynein arm of the ciliary axoneme has an inner and outer dynein arm. A mutation in DNAI1 can lead to defective ciliary beating. A DNAI1 gene mutation accounts for 4-10% of all cases of primary ciliary dyskensia (PCD). The most frequent structural defect in cilia of PCD patients are abnormal dynein arms. A common mutation of DNAI1 leading to PCD is a hot-spot mutation in intron 1 of the gene. Mutations in coding or splicing are only found in 10% of PCD cases.^[6]

References

External links

• GeneReviews/NIH/NCBI/UW entry on Primary Ciliary Dyskinesia

Further reading

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