DNAI1

Dynein intermediate chain 1, axonemal is a protein that in humans is encoded by the DNAI1 gene.[5][6]

DNAI1
Identifiers
AliasesDNAI1, CILD1, DIC1, ICS1, PCD, dynein axonemal intermediate chain 1
External IDsOMIM: 604366 MGI: 1916172 HomoloGene: 8122 GeneCards: DNAI1
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9p13.3Start34,457,414 bp[1]
End34,520,988 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 4: 41.57 – 41.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 (axonemal dynein intermediate chain 1 gene 1) is a gene 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
  1. GRCh38: Ensembl release 89: ENSG00000122735 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000061322 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clement A, Goossens M, Amselem S, Duriez B (Jan 2000). "Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia". American Journal of Human Genetics. 65 (6): 1508–19. doi:10.1086/302683. PMC 1288361. PMID 10577904.
  6. "Entrez Gene: DNAI1 dynein, axonemal, intermediate chain 1".

Further reading



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