DNAI1

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]

Full Name

Dynein Axonemal Intermediate Chain 1

Function

Part of the dynein complex of respiratory cilia.

Biological Process

Cilium movement Source: SYSCILIA_CCNET
Determination of left/right symmetry Source: SYSCILIA_CCNET
Epithelial cilium movement involved in extracellular fluid movement Source: Ensembl
Flagellated sperm motility Source: SYSCILIA_CCNET
Heart development Source: Ensembl
Insulin receptor signaling pathway Source: Ensembl
Microtubule-based movement Source: GO_Central
Outer dynein arm assembly Source: SYSCILIA_CCNET

Cellular Location

Cilium axoneme; Dynein axonemal particle

Involvement in disease

Ciliary dyskinesia, primary, 1 (CILD1):
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Kartagener syndrome (KTGS):
An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).