InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DNAI1

Summary

InnateDB Protein

IDBP-59855.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DNAI1

Protein Name

dynein, axonemal, intermediate chain 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000242317

InnateDB Gene

IDBG-59853 (DNAI1)

Protein Structure

UniProt Annotation

Function

Part of the dynein complex of respiratory cilia.

Subcellular Localization

Cytoplasm, cytoskeleton, cilium axoneme.

Disease Associations

Ciliary dyskinesia, primary, 1 (CILD1) [MIM:244400]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.Kartagener syndrome (KTGS) [MIM:244400]: 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). {ECO:0000269PubMed:11231901}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.