Version 5.4
Homo sapiens Protein: DNAL1
Summary
InnateDB Protein IDBP-589300.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNAL1
Protein Name dynein, axonemal, light chain 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000451834
InnateDB Gene IDBG-11598 (DNAL1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017]: 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. {ECO:0000269PubMed:21496787}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in tissues carrying motile cilia such as testis. {ECO:0000269PubMed:15845866}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
Cellular Component
Protein Structure and Domains
PDB ID
InterPro IPR001611 Leucine-rich repeat
PFAM PF00560
PF13504
PF13855
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q4LDG9
PhosphoSite PhosphoSite-Q4LDG9
TrEMBL H0YM28
UniProt Splice Variant
Entrez Gene 83544
UniGene Hs.271270
RefSeq NP_001188295
HUGO HGNC:23247
OMIM 610062
CCDS CCDS55928
HPRD 16616
IMGT
EMBL AC005225 AC006146 AF542071 AK315392 AL833654 BC005343
GenPept AAH05343 AAQ11377 BAG37785 CAI46147

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca