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Entry version 180 (17 Jun 2020)
Sequence version 1 (01 Feb 1996)
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Protein

Potassium voltage-gated channel subfamily C member 1

Gene

KCNC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1296072 Voltage gated Potassium channels

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.1.2.24 the voltage-gated ion channel (vic) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KCNC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000129159.6

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6233 KCNC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
176258 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P48547

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 190CytoplasmicSequence analysisAdd BLAST190
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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 junction, Cell membrane, Cell projection, Membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
3746

MalaCards human disease database

More...
MalaCardsi
KCNC1
MIMi616187 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000129159

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
435438 Progressive myoclonic epilepsy type 7

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30026

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P48547 Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5529

Drug and drug target database

More...
DrugBanki
DB06637 Dalfampridine

DrugCentral

More...
DrugCentrali
P48547

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KCNC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1352085

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000540511 – 511Potassium voltage-gated channel subfamily C member 1Add BLAST511

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei44PhosphoserineBy similarity1
Modified residuei130PhosphoserineBy similarity1
Modified residuei142PhosphoserineBy similarity1
Modified residuei158PhosphoserineBy similarity1
Modified residuei160PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi220N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi229N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei474PhosphoserineBy similarity1
Modified residuei483PhosphothreonineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated; contains sialylated glycans.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P48547

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P48547

PeptideAtlas

More...
PeptideAtlasi
P48547

PRoteomics IDEntifications database

More...
PRIDEi
P48547

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
55903 [P48547-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P48547

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P48547

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000129159 Expressed in right hemisphere of cerebellum and 99 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P48547 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P48547 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000129159 Tissue enriched (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
109948, 8 interactors

Protein interaction database and analysis system

More...
IntActi
P48547, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000265969

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P48547

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P48547 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P48547

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi400 – 405Selectivity filterBy similarity6

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3713 Eukaryota
COG1226 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156912

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_011722_4_3_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P48547

KEGG Orthology (KO)

More...
KOi
K04887

Identification of Orthologs from Complete Genome Data

More...
OMAi
PNFCKSG

Database of Orthologous Groups

More...
OrthoDBi
818306at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P48547

TreeFam database of animal gene trees

More...
TreeFami
TF352511

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.120.350, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

The PANTHER Classification System

More...
PANTHERi
PTHR11537 PTHR11537, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02214 BTB_2, 1 hit
PF00520 Ion_trans, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01581 KV31CHANNEL
PR01491 KVCHANNEL
PR01498 SHAWCHANNEL

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00225 BTB, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54695 SSF54695, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Show »
Length:585
Mass (Da):65,871
Checksum:iF8A9D1E6769BCEC5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PNZ3A0A1W2PNZ3_HUMAN
Potassium voltage-gated channel sub...
KCNC1
504Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPT0A0A1W2PPT0_HUMAN
Potassium voltage-gated channel sub...
KCNC1
182Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPX0A0A1W2PPX0_HUMAN
Potassium voltage-gated channel sub...
KCNC1
304Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRL7A0A1W2PRL7_HUMAN
Potassium voltage-gated channel sub...
KCNC1
103Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PNN0A0A1W2PNN0_HUMAN
Potassium voltage-gated channel sub...
KCNC1
77Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPN9A0A1W2PPN9_HUMAN
Potassium voltage-gated channel sub...
KCNC1
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PP60A0A1W2PP60_HUMAN
Potassium voltage-gated channel sub...
KCNC1
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_055129502 – 511GRKPLRGMSI → DSKLNGEVAKAALANEDCPH IDQALTPDEGLPFTRSGTRE RYGPCFLLSTGEYACPPGGG MRKDLCKESPVIAKYMPTEA VRVT in isoform 2. Curated10

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS44547.1 [P48547-2]
CCDS7827.1 [P48547-1]

Protein sequence database of the Protein Information Resource

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PIRi
A46020

NCBI Reference Sequences

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RefSeqi
NP_001106212.1, NM_001112741.1 [P48547-2]
NP_004967.1, NM_004976.4 [P48547-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000265969; ENSP00000265969; ENSG00000129159 [P48547-2]
ENST00000379472; ENSP00000368785; ENSG00000129159 [P48547-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3746

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3746

UCSC genome browser

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UCSCi
uc001mnk.5 human [P48547-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

SMRiP48547
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi109948, 8 interactors
IntActiP48547, 4 interactors
STRINGi9606.ENSP00000265969

Chemistry databases

BindingDBiP48547
ChEMBLiCHEMBL5529
DrugBankiDB06637 Dalfampridine
DrugCentraliP48547

Protein family/group databases

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

PTM databases

iPTMnetiP48547
PhosphoSitePlusiP48547

Polymorphism and mutation databases

BioMutaiKCNC1
DMDMi1352085

Proteomic databases

MassIVEiP48547
PaxDbiP48547
PeptideAtlasiP48547
PRIDEiP48547
ProteomicsDBi55903 [P48547-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
24953 402 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3746
DisGeNETi3746
EuPathDBiHostDB:ENSG00000129159.6

GeneCards: human genes, protein and diseases

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GeneCardsi
KCNC1
HGNCiHGNC:6233 KCNC1
HPAiENSG00000129159 Tissue enriched (brain)
MalaCardsiKCNC1
MIMi176258 gene
616187 phenotype
neXtProtiNX_P48547
OpenTargetsiENSG00000129159
Orphaneti435438 Progressive myoclonic epilepsy type 7
PharmGKBiPA30026

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3713 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00940000156912
HOGENOMiCLU_011722_4_3_1
InParanoidiP48547
KOiK04887
OMAiPNFCKSG
OrthoDBi818306at2759
PhylomeDBiP48547
TreeFamiTF352511

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
3746 14 hits in 780 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3746
PharosiP48547 Tclin

Protein Ontology

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PROi
PR:P48547
RNActiP48547 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000129159 Expressed in right hemisphere of cerebellum and 99 other tissues
ExpressionAtlasiP48547 baseline and differential
GenevisibleiP48547 HS

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
PRINTSiPR01581 KV31CHANNEL
PR01491 KVCHANNEL
PR01498 SHAWCHANNEL
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKCNC1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P48547
Secondary accession number(s): K4DI87
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: June 17, 2020
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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