Homo sapiens Gene: DNAAF1
Summary
InnateDB Gene IDBG-44266.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNAAF1
Gene Name dynein, axonemal, assembly factor 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000154099
Encoded Proteins
dynein, axonemal, assembly factor 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13.[provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:84145287-84178767
Strand Forward strand
Band q24.1
Transcripts
ENST00000378553 ENSP00000367815
ENST00000562024
ENST00000569735 ENSP00000454960
ENST00000567666
ENST00000564928 ENSP00000457899
ENST00000570298
ENST00000563093 ENSP00000457373
ENST00000563818
ENST00000567918 ENSP00000455154
ENST00000623406
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
GO:0005515 protein binding
GO:0045502 dynein binding
Biological Process
GO:0001947 heart looping
GO:0003341 cilium movement
GO:0003356 regulation of cilium beat frequency
GO:0030324 lung development
GO:0035469 determination of pancreatic left/right asymmetry
GO:0036158 outer dynein arm assembly
GO:0036159 inner dynein arm assembly
GO:0044458 motile cilium assembly
GO:0060271 cilium morphogenesis
GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry
GO:0060972 left/right pattern formation
GO:0070286 axonemal dynein complex assembly
GO:0071907 determination of digestive tract left/right asymmetry
GO:0071910 determination of liver left/right asymmetry
Cellular Component
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005930 axoneme
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.310164 Hs.703315
RefSeq NM_178452 XM_006721129
HUGO
OMIM
CCDS CCDS10943
HPRD 14023
IMGT
EMBL
GenPept
RNA Seq Atlas