Homo sapiens Protein: TTBK2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-747460.3 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | TTBK2 | ||||||||||||||||||
Protein Name | |||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000455734 | ||||||||||||||||||
InnateDB Gene | IDBG-8101 (TTBK2) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro. {ECO:0000269PubMed:21548880, ECO:0000269PubMed:23141541}. | ||||||||||||||||||
Subcellular Localization | Cell projection, cilium {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytosol. Nucleus. Note=Localizes to the transition zone in primary cilia in response to cell cycle signals that promote ciliogenesis (By similarity). May also be present in cytosol and, at lower level in the nucleus. {ECO:0000250}. | ||||||||||||||||||
Disease Associations | Spinocerebellar ataxia 11 (SCA11) [MIM:604432]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late-onset, slowly progressive neurologic disorder. {ECO:0000269PubMed:18037885}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000719
Protein kinase domain IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain IPR011009 Protein kinase-like domain IPR020635 Tyrosine-protein kinase, catalytic domain |
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PFAM |
PF00069
PF07714 |
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PRINTS |
PR00109
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PIRSF | |||||||||||||||||||
SMART |
SM00220
SM00219 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q6IQ55 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q6IQ55 | ||||||||||||||||||
TrEMBL | H3BTY5 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 146057 | ||||||||||||||||||
UniGene | Hs.733489 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:19141 | ||||||||||||||||||
OMIM | 611695 | ||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | 10288 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB020654 AC068727 AC090510 AC090514 AK131372 BC041876 BC071556 | ||||||||||||||||||
GenPept | AAH41876 AAH71556 BAA74870 BAD18523 | ||||||||||||||||||