Homo sapiens Protein: KCNC3 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-586999.2 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | KCNC3 | ||||||||||||||||||
Protein Name | potassium voltage-gated channel, Shaw-related subfamily, member 3 | ||||||||||||||||||
Synonyms | KSHIIID; KV3.3; SCA13; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000434241 | ||||||||||||||||||
InnateDB Gene | IDBG-64255 (KCNC3) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. | ||||||||||||||||||
Subcellular Localization | Membrane; Multi-pass membrane protein. | ||||||||||||||||||
Disease Associations | Spinocerebellar ataxia 13 (SCA13) [MIM:605259]: 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. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients. {ECO:0000269PubMed:16501573}. 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 2 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 |
IPR000210
BTB/POZ-like IPR003091 Potassium channel IPR003131 Potassium channel tetramerisation-type BTB domain IPR003968 Potassium channel, voltage dependent, Kv IPR003974 Potassium channel, voltage dependent, Kv3 IPR005404 Potassium channel, voltage dependent, Kv3.3 IPR005821 Ion transport domain IPR011333 BTB/POZ fold IPR013099 Two pore domain potassium channel domain IPR021105 Potassium channel, voltage dependent, Kv3, inactivation domain |
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PFAM |
PF02214
PF00520 PF07885 PF11404 |
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PRINTS |
PR00169
PR01491 PR01498 PR01582 |
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PIRSF | |||||||||||||||||||
SMART |
SM00225
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q14003 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q14003 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 3748 | ||||||||||||||||||
UniGene | Hs.467146 | ||||||||||||||||||
RefSeq | NP_004968 | ||||||||||||||||||
HUGO | HGNC:6235 | ||||||||||||||||||
OMIM | 176264 | ||||||||||||||||||
CCDS | CCDS12793 | ||||||||||||||||||
HPRD | 08886 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC008655 AF055989 Z11585 | ||||||||||||||||||
GenPept | AAC24118 CAA77671 | ||||||||||||||||||