DNAI1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
DNAI1
Identifiers
Aliases DNAI1, CILD1, DIC1, ICS1, PCD, dynein axonemal intermediate chain 1
External IDs MGI: 1916172 HomoloGene: 8122 GeneCards: 27019
RNA expression pattern
PBB GE DNAI1 220125 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001281428
NM_012144

NM_175138

RefSeq (protein)

NP_001268357.1
NP_036276.1

NP_780347.2

Location (UCSC) Chr 9: 34.46 – 34.52 Mb Chr 4: 41.57 – 41.64 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Dynein intermediate chain 1, axonemal is a protein that in humans is encoded by the DNAI1 gene.[3][4]

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 dyenin 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 dyenin arm. Each dyenin arm of the ciliary axoneme has an inner and outer dyenin 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 pateints are abnormal dyenin 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.]].[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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". Am J Hum Genet. 65 (6): 1508–19. doi:10.1086/302683. PMC 1288361free to read. PMID 10577904. 
  4. ^ a b "Entrez Gene: DNAI1 dynein, axonemal, intermediate chain 1". 

External links[edit]

Further reading[edit]