NP_001268357.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
dynein intermediate chain 1, axonemal isoform 2
NCBI Official Synonym Full Names
dynein, axonemal, intermediate chain 1
NCBI Protein Information
dynein intermediate chain 1, axonemal; immotile cilia syndrome 1; dynein, axonemal, intermediate polypeptide 1
UniProt Protein Name
Dynein intermediate chain 1, axonemal
UniProt Synonym Protein Names
Axonemal dynein intermediate chain 1
UniProt Entry Name
DNAI1_HUMAN
NCBI Summary for 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]
UniProt Comments for DNAI1
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.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 9p13.3
Cellular Component: dynein complex; microtubule; cytoskeleton; cytoplasm; cilium
Molecular Function: protein binding; motor activity
Biological Process: cell projection organization and biogenesis; metabolic process
Disease: Ciliary Dyskinesia, Primary, 1
Research Articles on DNAI1
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Products associated with anti-DNAI1 antibody
Pathways associated with anti-DNAI1 antibody
Diseases associated with anti-DNAI1 antibody
Organs/Tissues associated with anti-DNAI1 antibody
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