InnateDB Protein
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IDBP-247124.7
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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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DNAAF3
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Protein Name
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chromosome 19 open reading frame 51
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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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ENSP00000375600
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InnateDB Gene
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IDBG-70245 (DNAAF3)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm {ECO:0000250}.
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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.
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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 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[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 |
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PFAM |
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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 |
Q8N9W5
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PhosphoSite |
PhosphoSite-Q8N9W5
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TrEMBL |
M0R359
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UniProt Splice Variant |
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Entrez Gene |
352909
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UniGene |
Hs.714516
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RefSeq |
NP_849159
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HUGO |
HGNC:30492
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OMIM |
614566
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CCDS |
CCDS12918
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HPRD |
14185
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IMGT |
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EMBL |
AC010327
AK093458
AK093473
AK097388
BC016843
BC063449
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GenPept |
AAH16843
AAH63449
BAC04172
BAC04177
BAC05029
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