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Protein

Potassium voltage-gated channel subfamily C member 1

Gene

KCNC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 (PubMed:25401298). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels

Protein family/group databases

TCDBi1.A.1.2.24 the voltage-gated ion channel (vic) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily C member 1
Alternative name(s):
NGK2
Voltage-gated potassium channel subunit Kv3.1
Voltage-gated potassium channel subunit Kv4
Gene namesi
Name:KCNC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000129159.6
HGNCiHGNC:6233 KCNC1
MIMi176258 gene
neXtProtiNX_P48547

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 190CytoplasmicSequence analysisAdd BLAST190
Transmembranei191 – 209Helical; Name=Segment S1Sequence analysisAdd BLAST19
Transmembranei248 – 267Helical; Name=Segment S2Sequence analysisAdd BLAST20
Topological domaini268 – 276CytoplasmicSequence analysis9
Transmembranei277 – 295Helical; Name=Segment S3Sequence analysisAdd BLAST19
Transmembranei309 – 331Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST23
Topological domaini332 – 344CytoplasmicSequence analysisAdd BLAST13
Transmembranei345 – 366Helical; Name=Segment S5Sequence analysisAdd BLAST22
Transmembranei415 – 436Helical; Name=Segment S6Sequence analysisAdd BLAST22
Topological domaini437 – 511CytoplasmicSequence analysisAdd BLAST75

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 7 (EPM7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurologic disorder characterized by progressive myoclonic epilepsy, manifesting in the first or second decades of life. Cognitive function may decline in some patients. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles.
See also OMIM:616187
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072705320R → H in EPM7; causes a dominant-negative loss of current upon membrane depolarization. 1 PublicationCorresponds to variant dbSNP:rs727502818EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi3746
MalaCardsiKCNC1
MIMi616187 phenotype
OpenTargetsiENSG00000129159
PharmGKBiPA30026

Chemistry databases

ChEMBLiCHEMBL5529
DrugBankiDB06637 Dalfampridine

Polymorphism and mutation databases

BioMutaiKCNC1
DMDMi1352085

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000540511 – 511Potassium voltage-gated channel subfamily C member 1Add BLAST511

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei44PhosphoserineBy similarity1
Modified residuei130PhosphoserineBy similarity1
Modified residuei142PhosphoserineBy similarity1
Modified residuei158PhosphoserineBy similarity1
Modified residuei160PhosphoserineBy similarity1
Glycosylationi220N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi229N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei474PhosphoserineBy similarity1
Modified residuei483PhosphothreonineBy similarity1

Post-translational modificationi

N-glycosylated; contains sialylated glycans.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP48547
PeptideAtlasiP48547
PRIDEiP48547
ProteomicsDBi55903

PTM databases

iPTMnetiP48547
PhosphoSitePlusiP48547

Expressioni

Gene expression databases

BgeeiENSG00000129159
CleanExiHS_KCNC1
ExpressionAtlasiP48547 baseline and differential
GenevisibleiP48547 HS

Organism-specific databases

HPAiHPA047634
HPA048249

Interactioni

Subunit structurei

Heteromultimer with KCNG3, KCNG4 and KCNV2 (By similarity). Heteromultimer with KCNC2 (By similarity). Heterotetramer with KCNC3 (PubMed:23734863). Interacts with the ancillary subunits KCNE1 and KCNE2; the interaction modulates channel activity (By similarity).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109948, 8 interactors
IntActiP48547, 3 interactors
STRINGi9606.ENSP00000265969

Chemistry databases

BindingDBiP48547

Structurei

3D structure databases

ProteinModelPortaliP48547
SMRiP48547
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi400 – 405Selectivity filterBy similarity6

Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.Curated
The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.Curated

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3713 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00760000118846
HOGENOMiHOG000231012
HOVERGENiHBG105862
InParanoidiP48547
KOiK04887
OMAiSGGFWRR
OrthoDBiEOG091G0EJL
PhylomeDBiP48547

Family and domain databases

Gene3Di1.20.120.350, 1 hit
InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR005821 Ion_trans_dom
IPR003968 K_chnl_volt-dep_Kv
IPR003974 K_chnl_volt-dep_Kv3
IPR005403 K_chnl_volt-dep_Kv3.1
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
IPR028325 VG_K_chnl
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR11537 PTHR11537, 1 hit
PfamiView protein in Pfam
PF02214 BTB_2, 1 hit
PF00520 Ion_trans, 1 hit
PRINTSiPR00169 KCHANNEL
PR01581 KV31CHANNEL
PR01491 KVCHANNEL
PR01498 SHAWCHANNEL
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P48547-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGQGDESERI VINVGGTRHQ TYRSTLRTLP GTRLAWLAEP DAHSHFDYDP
60 70 80 90 100
RADEFFFDRH PGVFAHILNY YRTGKLHCPA DVCGPLYEEE LAFWGIDETD
110 120 130 140 150
VEPCCWMTYR QHRDAEEALD SFGGAPLDNS ADDADADGPG DSGDGEDELE
160 170 180 190 200
MTKRLALSDS PDGRPGGFWR RWQPRIWALF EDPYSSRYAR YVAFASLFFI
210 220 230 240 250
LVSITTFCLE THERFNPIVN KTEIENVRNG TQVRYYREAE TEAFLTYIEG
260 270 280 290 300
VCVVWFTFEF LMRVIFCPNK VEFIKNSLNI IDFVAILPFY LEVGLSGLSS
310 320 330 340 350
KAAKDVLGFL RVVRFVRILR IFKLTRHFVG LRVLGHTLRA STNEFLLLII
360 370 380 390 400
FLALGVLIFA TMIYYAERIG AQPNDPSASE HTHFKNIPIG FWWAVVTMTT
410 420 430 440 450
LGYGDMYPQT WSGMLVGALC ALAGVLTIAM PVPVIVNNFG MYYSLAMAKQ
460 470 480 490 500
KLPKKKKKHI PRPPQLGSPN YCKSVVNSPH HSTQSDTCPL AQEEILEINR
510
AGRKPLRGMS I
Length:511
Mass (Da):57,942
Last modified:February 1, 1996 - v1
Checksum:i10A93478F7120ABB
GO
Isoform 2 (identifier: P48547-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     502-511: GRKPLRGMSI → DSKLNGEVAK...YMPTEAVRVT

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:585
Mass (Da):65,871
Checksum:iF8A9D1E6769BCEC5
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072705320R → H in EPM7; causes a dominant-negative loss of current upon membrane depolarization. 1 PublicationCorresponds to variant dbSNP:rs727502818EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055129502 – 511GRKPLRGMSI → DSKLNGEVAKAALANEDCPH IDQALTPDEGLPFTRSGTRE RYGPCFLLSTGEYACPPGGG MRKDLCKESPVIAKYMPTEA VRVT in isoform 2. Curated10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S56770 mRNA Translation: AAB25764.1
AC124056 Genomic DNA No translation available.
AC124078 Genomic DNA No translation available.
AC124301 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68425.1
M96747 mRNA Translation: AAA59458.1
CCDSiCCDS44547.1 [P48547-2]
CCDS7827.1 [P48547-1]
PIRiA46020
RefSeqiNP_001106212.1, NM_001112741.1 [P48547-2]
NP_004967.1, NM_004976.4 [P48547-1]
UniGeneiHs.552896

Genome annotation databases

EnsembliENST00000265969; ENSP00000265969; ENSG00000129159 [P48547-2]
ENST00000379472; ENSP00000368785; ENSG00000129159 [P48547-1]
GeneIDi3746
KEGGihsa:3746
UCSCiuc001mnk.5 human [P48547-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiKCNC1_HUMAN
AccessioniPrimary (citable) accession number: P48547
Secondary accession number(s): K4DI87
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: June 20, 2018
This is version 165 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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