InnateDB Protein
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IDBP-294536.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DNAAF2
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Protein Name
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dynein, axonemal, assembly factor 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000384862
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InnateDB Gene
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IDBG-5745 (DNAAF2)
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Protein Structure
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Function |
Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:19052621}. Note=Localizes in the apical cytoplasm around the gamma-tubulin- positive pericentriolar region, not in the cilia.
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Disease Associations |
Ciliary dyskinesia, primary, 10 (CILD10) [MIM:612518]: 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:19052621}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR012981
PIH1 family
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PFAM |
PF08190
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NVR5
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PhosphoSite |
PhosphoSite-Q9NVR5
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
55172
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UniGene |
Hs.231761
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RefSeq |
NP_001077377
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HUGO |
HGNC:20188
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OMIM |
612517
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CCDS |
CCDS45100
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HPRD |
12627
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IMGT |
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EMBL |
AK001425
AL139099
BC011400
BC013322
BX248264
BX248765
FJ158843
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GenPept |
AAH11400
AAH13322
ACN30493
BAA91684
CAD62592
CAD66572
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