KCNC3
entrez
3748
canonical
uniprot
Q14003
canonical
ensembl
ENSG00000131398
resolver
ensp
ENSP00000434241
resolver
enst
ENST00000477616
resolver
genesymbol
KCNC3
resolver
hgnc
HGNC:6235
resolver
uniprot_entry
KCNC3_HUMAN
resolver
amino_acid_sequence
MLSSVCVSSFRGRQGASKQQPAPPPQPPESPPPPPLPPQQQQPAQPGPAASPAGPPAPRGPGDRRAEPCPGLPAAAMGRHGGGGGDSGKIVINVGGVRHETYRSTLRTLPGTRLAGLTEPEAAARFDYDPGADEFFFDRHPGVFAYVLNYYRTGKLHCPADVCGPLFEEELGFWGIDETDVEACCWMTYRQHRDAEEALDSFEAPDPAGAANAANAAGAHDGGLDDEAGAGGGGLDGAGGELKRLCFQDAGGGAGGPPGGAGGAGGTWWRRWQPRVWALFEDPYSSRAARYVAFASLFFILISITTFCLETHEGFIHISNKTVTQASPIPGAPPENITNVEVETEPFLTYVEGVCVVWFTFEFLMRITFCPDKVEFLKSSLNIIDCVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGADPDDILGSNHTYFKNIPIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKNKHIPRPPQPGSPNYCKPDPPPPPPPHPHHGSGGISPPPPITPPSMGVTVAGAYPAGPHTHPGLLRGGAGGLGIMGLPPLPAPGEPCPLAQEEVIEINRADPRPNGDPAAAALAHEDCPAIDQPAMSPEDKSPITPGSRGRYSRDRACFLLTDYAPSPDGSIRKATGAPPLPPQDWRKPGPPSFLPDLNANAAAWISP
uniprot
proteins
disease_involvement
DISEASE: 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. Intellectual disability can be present in some patients. {ECO:0000269|PubMed:16501573, ECO:0000269|PubMed:19953606, ECO:0000269|PubMed:21479265, ECO:0000269|PubMed:22289912, ECO:0000269|PubMed:23734863, ECO:0000269|PubMed:25152487, ECO:0000269|PubMed:25756792}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics (PubMed:10712820, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:22289912, PubMed:23734863, PubMed:25756792, PubMed:26997484). It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar neurons, probably via its role in regulating the duration and frequency of action potentials that in turn regulate the activity of voltage-gated Ca(2+) channels and cellular Ca(2+) homeostasis (By similarity). Required for normal motor function (PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:23734863, PubMed:25756792). Plays a role in the reorganization of the cortical actin cytoskeleton and the formation of actin veil structures in neuronal growth cones via its interaction with HAX1 and the Arp2/3 complex (PubMed:26997484). {ECO:0000250|UniProtKB:Q63959, ECO:0000269|PubMed:10712820, ECO:0000269|PubMed:16501573, ECO:0000269|PubMed:19953606, ECO:0000269|PubMed:21479265, ECO:0000269|PubMed:22289912, ECO:0000269|PubMed:23734863, ECO:0000269|PubMed:25756792, ECO:0000269|PubMed:26997484}.
uniprot
proteins
mass_dalton
80578
uniprot
proteins
mutagenesis
MUTAGEN 1..78; /note="Missing: Loss of N-type inactivation."; /evidence="ECO:0000269|PubMed:26997484"; MUTAGEN 366; /note="R->K,A: Decreases protein abundance."; /evidence="ECO:0000269|PubMed:23734863"; MUTAGEN 420; /note="R->K,A: Decreases protein abundance."; /evidence="ECO:0000269|PubMed:23734863"; MUTAGEN 423; /note="R->K,A: Decreases protein abundance."; /evidence="ECO:0000269|PubMed:23734863"; MUTAGEN 592; /note="G->R: Loss of interaction with ACTR3. No effect on voltage-dependent channel opening or current amplitude, but decreased rate of inactivation during prolonged depolarization."; /evidence="ECO:0000269|PubMed:26997484
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:25152487}.
uniprot
proteins
protein_family
C (Shaw) (TC 1.A.1.2) subfamily
uniprot
proteins
protein_family
Kv3.3/KCNC3 sub-subfamily
uniprot
proteins
protein_family
Potassium channel family
uniprot
proteins
pubmed
10712820
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
16501573
uniprot
proteins
pubmed
19953606
uniprot
proteins
pubmed
21479265
uniprot
proteins
pubmed
22289912
uniprot
proteins
pubmed
23734863
uniprot
proteins
pubmed
25152487
uniprot
proteins
pubmed
25756792
uniprot
proteins
pubmed
26997484
uniprot
proteins
sequence_length
757
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10712820, ECO:0000269|PubMed:16501573, ECO:0000269|PubMed:19953606, ECO:0000269|PubMed:22289912, ECO:0000269|PubMed:23734863, ECO:0000269|PubMed:25152487, ECO:0000269|PubMed:25756792, ECO:0000269|PubMed:26997484}; Multi-pass membrane protein {ECO:0000255}. Presynaptic cell membrane {ECO:0000250|UniProtKB:Q63959}; Multi-pass membrane protein {ECO:0000255}. Perikaryon {ECO:0000250|UniProtKB:Q63959}. Cell projection, axon {ECO:0000250|UniProtKB:Q63959}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q63959}. Cell projection, dendritic spine membrane {ECO:0000250|UniProtKB:Q01956}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, cell cortex {ECO:0000269|PubMed:26997484}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:26997484}. Note=Detected on Purkinje cell dendritic spines, positioned perisynaptically but also in extrasynaptic positions along the spine membranes (By similarity). Detected at presynaptic calices of Held (By similarity). Colocalizes with the cortical actin cytoskeleton and the Arp2/3 complex (PubMed:26997484). {ECO:0000250|UniProtKB:Q01956, ECO:0000250|UniProtKB:Q63959, ECO:0000269|PubMed:26997484}.
uniprot
proteins
transmembrane_region
TRANSMEM 291..309; /note="Helical; Name=Segment S1"; /evidence="ECO:0000255"; TRANSMEM 351..370; /note="Helical; Name=Segment S2"; /evidence="ECO:0000255"; TRANSMEM 380..398; /note="Helical; Name=Segment S3"; /evidence="ECO:0000255"; TRANSMEM 412..434; /note="Helical; Voltage-sensor; Name=Segment S4"; /evidence="ECO:0000255"; TRANSMEM 448..469; /note="Helical; Name=Segment S5"; /evidence="ECO:0000255"; TRANSMEM 518..539; /note="Helical; Name=Segment S6"; /evidence="ECO:0000255
uniprot
proteins