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DNAI1 (NM_001281428) - dynein axonemal intermediate chain 1

Dynein Intermediate Chain 1, Axonemal Isoform 2

Mutations Visualisation

Protein summary

This is an alternative isoform of DNAI1 protein. View all 2 isoforms
DNAI1: dynein intermediate chain 1, axonemal isoform 2
Description:

This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. 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. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].

Strand
+
Chromosome
9
Protein
703 residues
All mutations
179
PTM sites
1
CDS
34,459,003 - 34,520,754
Transcription
34,458,749 - 34,520,987
22.05% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 27019
UniProt
Ensembl