InnateDB Protein
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IDBP-30559.6
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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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CCDC65
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Protein Name
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coiled-coil domain containing 65
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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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ENSP00000266984
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InnateDB Gene
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IDBG-30555 (CCDC65)
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Protein Structure
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Function |
May play a role in motile cilia function, possibly by acting on the assembly of the nexin-dynein regulatory complex. {ECO:0000269PubMed:24094744}.
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Subcellular Localization |
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Disease Associations |
Ciliary dyskinesia, primary, 27 (CILD27) [MIM:615504]: 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. Patients may 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:24094744}. Note=The disease is caused by mutations affecting the gene represented in this entry. Cilia ultrastructure show normal outer dynein arms, radial spokes and central pairs, but a reduction in inner dynein arms and nexin links. In 5%-15% of cilia, microtubules are disorganized. Nasal epithelial cilia reveal a stiff, dyskinetic cilia waveform.
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Tissue Specificity |
Highly expressed in adult testis, in spermatocytes and spermatids. Also observed in spermatogonia. Not detected in Leydig cells, nor in fetal testis (at protein level). {ECO:0000269PubMed:17089017}.
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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 0 experimentally validated interaction(s) in this database.
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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 |
Q8IXS2
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PhosphoSite |
PhosphoSite-Q8IXS2
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
85478
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UniGene |
Hs.512805
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RefSeq |
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HUGO |
HGNC:29937
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OMIM |
611088
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CCDS |
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HPRD |
14867
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IMGT |
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EMBL |
AC073610
AF382188
AK093051
AK098529
AK314623
BC039317
CH471111
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GenPept |
AAH39317
AAK60542
BAC04035
BAC05324
BAG37189
EAW58020
EAW58021
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