KCNC1
entrez
3746
canonical
uniprot
P48547
canonical
ensembl
ENSG00000129159
resolver
ensp
ENSP00000265969
resolver
ensp
ENSP00000368785
resolver
genesymbol
KCNC1
resolver
hgnc
HGNC:6233
resolver
uniprot
K4DI87
resolver
uniprot
Q3KNS8
resolver
uniprot_entry
KCNC1_HUMAN
resolver
uniprot_sec
K4DI87
resolver
uniprot_sec
Q3KNS8
resolver
amino_acid_sequence
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPADVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDSPDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAETEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPHHSTQSDTCPLAQEEILEINRAGRKPLRGMSI
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, progressive myoclonic 7 (EPM7) [MIM:616187]: A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients. {ECO:0000269|PubMed:25401298}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Voltage-gated potassium channel that opens in response to the voltage difference across the membrane and through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298, PubMed:35840580). The mechanism is time-dependent and inactivation is slow (By similarity). Plays an important role in the rapid repolarization of fast-firing brain neurons (By similarity). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well (By similarity). Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons (By similarity). {ECO:0000250|UniProtKB:P25122, ECO:0000269|PubMed:25401298, ECO:0000269|PubMed:35840580}.
uniprot
proteins
mass_dalton
57942
uniprot
proteins
post_translational_modification
PTM: N-glycosylated; contains sialylated glycans. {ECO:0000250|UniProtKB:P25122}.
uniprot
proteins
protein_family
C (Shaw) (TC 1.A.1.2) subfamily
uniprot
proteins
protein_family
Kv3.1/KCNC1 sub-subfamily
uniprot
proteins
protein_family
Potassium channel family
uniprot
proteins
pubmed
1400413
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
23734863
uniprot
proteins
pubmed
25401298
uniprot
proteins
pubmed
35840580
uniprot
proteins
pubmed
8449507
uniprot
proteins
sequence_length
511
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25401298}; Multi-pass membrane protein {ECO:0000255}. Cell projection, axon {ECO:0000250|UniProtKB:P25122}. Presynaptic cell membrane {ECO:0000250|UniProtKB:P25122}. Note=Localizes in parallel fiber membranes, distributed on the perisynaptic and extrasynaptic membranes away from the active zones. {ECO:0000250|UniProtKB:P25122}.
uniprot
proteins
transmembrane_region
TRANSMEM 191..209; /note="Helical; Name=Segment S1"; /evidence="ECO:0000255"; TRANSMEM 248..267; /note="Helical; Name=Segment S2"; /evidence="ECO:0000255"; TRANSMEM 277..295; /note="Helical; Name=Segment S3"; /evidence="ECO:0000255"; TRANSMEM 309..331; /note="Helical; Voltage-sensor; Name=Segment S4"; /evidence="ECO:0000255"; TRANSMEM 345..366; /note="Helical; Name=Segment S5"; /evidence="ECO:0000255"; TRANSMEM 415..436; /note="Helical; Name=Segment S6"; /evidence="ECO:0000255
uniprot
proteins