InnateDB Protein
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IDBP-88623.7
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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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RSPH9
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Protein Name
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radial spoke head 9 homolog (Chlamydomonas)
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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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ENSP00000361238
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InnateDB Gene
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IDBG-88621 (RSPH9)
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Protein Structure
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Function |
Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. {ECO:0000269PubMed:19200523}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}. Note=Radial spoke. {ECO:0000305}.
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Disease Associations |
Ciliary dyskinesia, primary, 12 (CILD12) [MIM:612650]: 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269PubMed:19200523}. 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 |
Q9H1X1
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PhosphoSite |
PhosphoSite-Q9H1X1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
221421
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UniGene |
Hs.534585
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RefSeq |
NP_001180270
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HUGO |
HGNC:21057
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OMIM |
612648
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CCDS |
CCDS55005
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HPRD |
12875
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IMGT |
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EMBL |
AK055407
AK291399
AL136131
BC029519
CH471081
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GenPept |
AAH29519
BAB70918
BAF84088
CAC19508
CAI19961
EAX04222
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