Entity Details

Primary name DNAL1
Entity type gene
Source Source Link

Details

PrimaryID83544
RefseqGeneNG_028083
SymbolDNAL1
Namedynein axonemal light chain 1
Chromosome14
Location14q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDNAL1_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005874 microtubule
GO:0036157 outer dynein arm
GO:0036158 outer dynein arm assembly
GO:0043014 alpha-tubulin binding
GO:0045504 dynein heavy chain binding

Diseases

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Disease IDSourceNameDescription
614017 OMIMCiliary dyskinesia, primary, 16 (CILD16)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
DNAL1LRRC40BioGRID, IntAct32296183 details
DNAL1RHOABioGRID, IntAct28514442 details
DNAL1RAP1GDS1BioGRID, IntAct28514442 details