Version 5.4
Homo sapiens Protein: DNAAF3
Summary
InnateDB Protein IDBP-247124.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNAAF3
Protein Name chromosome 19 open reading frame 51
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000375600
InnateDB Gene IDBG-70245 (DNAAF3)
Protein Structure
UniProt Annotation
Function Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia. {ECO:0000269PubMed:22387996}.
Subcellular Localization Cytoplasm {ECO:0000250}.
Disease Associations Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763]: 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:22387996}. 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 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0044458 motile cilium assembly
GO:0070286 axonemal dynein complex assembly
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N9W5
PhosphoSite PhosphoSite-Q8N9W5
TrEMBL M0R359
UniProt Splice Variant
Entrez Gene 352909
UniGene Hs.714516
RefSeq NP_849159
HUGO HGNC:30492
OMIM 614566
CCDS CCDS12918
HPRD 14185
IMGT
EMBL AC010327 AK093458 AK093473 AK097388 BC016843 BC063449
GenPept AAH16843 AAH63449 BAC04172 BAC04177 BAC05029

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