DNAI1 Part of the dynein complex of respiratory cilia. Defects in DNAI1 are the cause of primary ciliary dyskinesia type 1 (CILD1). CILD1 is an autosomal recessive disorder characterized by axonemal 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Defects in DNAI1 are the cause of Kartagener syndrome (KTGS). KTGS is 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). Belongs to the dynein intermediate chain family. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 9p13.3
Cellular Component:  cilium; cytoskeleton; microtubule; outer dynein arm
Molecular Function:  motor activity; protein binding
Biological Process:  cilium movement; determination of left/right symmetry; flagellated sperm motility; outer dynein arm assembly
Disease: Ciliary Dyskinesia, Primary, 1
Reference #:  Q9UI46 (UniProtKB)
Alt. Names/Synonyms: Axonemal dynein intermediate chain 1; CILD1; DNAI1; Dynein intermediate chain 1, axonemal; dynein intermediate chain DNAI1; dynein, axonemal, intermediate chain 1; dynein, axonemal, intermediate polypeptide 1; ICS; ICS1; immotile cilia syndrome 1; MGC26204; PCD
Gene Symbols: DNAI1
Molecular weight: 79,283 Da
Basal Isoelectric point: 6.4  Predict pI for various phosphorylation states
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DNAI1

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene