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Protein

Potassium voltage-gated channel subfamily B member 1

Gene

KCNB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Mediates the voltage-dependent potassium ion permeability of excitable membranes. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient.

GO - Molecular functioni

  1. delayed rectifier potassium channel activity Source: GO_Central
  2. outward rectifier potassium channel activity Source: Ensembl

GO - Biological processi

  1. energy reserve metabolic process Source: Reactome
  2. potassium ion transmembrane transport Source: GO_Central
  3. protein homooligomerization Source: InterPro
  4. regulation of insulin secretion Source: Reactome
  5. small molecule metabolic process Source: Reactome
  6. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiREACT_18274. Glucagon-like Peptide-1 (GLP1) regulates insulin secretion.
REACT_75770. Voltage gated Potassium channels.

Protein family/group databases

TCDBi1.A.1.2.11. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily B member 1
Alternative name(s):
Delayed rectifier potassium channel 1
Short name:
DRK1
Short name:
h-DRK1
Voltage-gated potassium channel subunit Kv2.1
Gene namesi
Name:KCNB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:6231. KCNB1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 186186CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei187 – 20822Helical; Name=Segment S1Sequence AnalysisAdd
BLAST
Transmembranei229 – 25022Helical; Name=Segment S2Sequence AnalysisAdd
BLAST
Topological domaini251 – 26010CytoplasmicSequence Analysis
Transmembranei261 – 28222Helical; Name=Segment S3Sequence AnalysisAdd
BLAST
Transmembranei295 – 31622Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
BLAST
Topological domaini317 – 33014CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei331 – 35222Helical; Name=Segment S5Sequence AnalysisAdd
BLAST
Intramembranei365 – 38521Pore-forming; Name=Segment H5Sequence AnalysisAdd
BLAST
Transmembranei393 – 41422Helical; Name=Segment S6Sequence AnalysisAdd
BLAST
Topological domaini415 – 858444CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. dendrite Source: Ensembl
  2. dendrite membrane Source: Ensembl
  3. integral component of membrane Source: GO_Central
  4. neuronal cell body membrane Source: Ensembl
  5. plasma membrane Source: Reactome
  6. postsynaptic membrane Source: Ensembl
  7. voltage-gated potassium channel complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 261 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia.

See also OMIM:616056
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti347 – 3471S → R in EIEE26; inhibits ion selectivity and gain of a depolarizing inward cation conductance; trafficks normally to the cell surface. 1 Publication
VAR_071991
Natural varianti374 – 3741T → I in EIEE26; inhibits ion selectivity and gain of a depolarizing inward cation conductance; trafficks normally to the cell surface. 1 Publication
VAR_071992
Natural varianti379 – 3791G → R in EIEE26; inhibits ion selectivity and gain of a depolarizing inward cation conductance; trafficks normally to the cell surface. 1 Publication
VAR_071993

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi616056. phenotype.
PharmGKBiPA209.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 858858Potassium voltage-gated channel subfamily B member 1PRO_0000054042Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei15 – 151PhosphoserineBy similarity
Modified residuei128 – 1281Phosphotyrosine; by SrcBy similarity
Modified residuei457 – 4571PhosphoserineBy similarity
Modified residuei484 – 4841PhosphoserineBy similarity
Modified residuei496 – 4961PhosphoserineBy similarity
Modified residuei503 – 5031PhosphoserineBy similarity
Modified residuei520 – 5201PhosphoserineBy similarity
Modified residuei541 – 5411PhosphoserineBy similarity
Modified residuei567 – 5671PhosphoserineBy similarity
Modified residuei590 – 5901PhosphoserineBy similarity
Modified residuei607 – 6071PhosphoserineBy similarity
Modified residuei656 – 6561PhosphoserineBy similarity
Modified residuei720 – 7201PhosphoserineBy similarity
Modified residuei772 – 7721PhosphoserineBy similarity
Modified residuei800 – 8001PhosphoserineBy similarity
Modified residuei805 – 8051PhosphoserineBy similarity

Post-translational modificationi

Highly phosphorylated on serine residues in the C-terminal. Differential phosphorylation on a subset of serines allows graded activity-dependent regulation of channel gating. Phosphorylation on Ser-457, Ser-541, Ser-567, Ser-607, Ser-656 and Ser-720 as well as the N-terminal Ser-15 are all regulated by calcineurin-mediated dephosphorylation. Particularly, Ser-607 and Tyr-128 are significant sites of voltage-gated regulation through phosphorylation/ dephosphorylation activities. Tyr-128 can be dephosphorylated by PTPalpha and cyt-PTPepsilon. Phosphorylation levels on Ser-607 are supersensitive to neuronal activity. Phosphorylation on Ser-567 is reduced during postnatal development with low levels at P2 and P5. Levels then increase to reach adult levels by P14. Phosphorylation levels on Ser-564 and Ser-607 are greatly reduced during seizures, by 40% and 85% respectively (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ14721.
PRIDEiQ14721.

2D gel databases

OGPiQ14721.

PTM databases

PhosphoSiteiQ14721.

Expressioni

Gene expression databases

BgeeiQ14721.
CleanExiHS_KCNB1.
GenevestigatoriQ14721.

Organism-specific databases

HPAiCAB001979.

Interactioni

Subunit structurei

Heteromultimer with KCNG2, KCNG3, KCNG4, KCNS1, KCNS2, KCNS3 and KCNV2.By similarity

Protein-protein interaction databases

BioGridi109947. 16 interactions.
IntActiQ14721. 1 interaction.
STRINGi9606.ENSP00000360806.

Structurei

3D structure databases

ProteinModelPortaliQ14721.
SMRiQ14721. Positions 30-462.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi377 – 3826Selectivity filterBy similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi517 – 5204Poly-Ser
Compositional biasi701 – 7066Poly-Ala

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1226.
GeneTreeiENSGT00760000118981.
HOGENOMiHOG000113206.
HOVERGENiHBG052225.
InParanoidiQ14721.
KOiK04885.
OMAiTEGVIDM.
OrthoDBiEOG7CRTPP.
PhylomeDBiQ14721.
TreeFamiTF313103.

Family and domain databases

Gene3Di1.20.120.350. 1 hit.
InterProiIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR003091. K_chnl.
IPR003968. K_chnl_volt-dep_Kv.
IPR003973. K_chnl_volt-dep_Kv2.
IPR004350. K_chnl_volt-dep_Kv2.1.
IPR003131. T1-type_BTB.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERiPTHR11537. PTHR11537. 1 hit.
PfamiPF02214. BTB_2. 1 hit.
PF00520. Ion_trans. 1 hit.
PF03521. Kv2channel. 1 hit.
[Graphical view]
PRINTSiPR00169. KCHANNEL.
PR01514. KV21CHANNEL.
PR01491. KVCHANNEL.
PR01495. SHABCHANNEL.
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.

Sequencei

Sequence statusi: Complete.

Q14721-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPAGMTKHGS RSTSSLPPEP MEIVRSKACS RRVRLNVGGL AHEVLWRTLD
60 70 80 90 100
RLPRTRLGKL RDCNTHDSLL EVCDDYSLDD NEYFFDRHPG AFTSILNFYR
110 120 130 140 150
TGRLHMMEEM CALSFSQELD YWGIDEIYLE SCCQARYHQK KEQMNEELKR
160 170 180 190 200
EAETLREREG EEFDNTCCAE KRKKLWDLLE KPNSSVAAKI LAIISIMFIV
210 220 230 240 250
LSTIALSLNT LPELQSLDEF GQSTDNPQLA HVEAVCIAWF TMEYLLRFLS
260 270 280 290 300
SPKKWKFFKG PLNAIDLLAI LPYYVTIFLT ESNKSVLQFQ NVRRVVQIFR
310 320 330 340 350
IMRILRILKL ARHSTGLQSL GFTLRRSYNE LGLLILFLAM GIMIFSSLVF
360 370 380 390 400
FAEKDEDDTK FKSIPASFWW ATITMTTVGY GDIYPKTLLG KIVGGLCCIA
410 420 430 440 450
GVLVIALPIP IIVNNFSEFY KEQKRQEKAI KRREALERAK RNGSIVSMNM
460 470 480 490 500
KDAFARSIEM MDIVVEKNGE NMGKKDKVQD NHLSPNKWKW TKRTLSETSS
510 520 530 540 550
SKSFETKEQG SPEKARSSSS PQHLNVQQLE DMYNKMAKTQ SQPILNTKES
560 570 580 590 600
AAQSKPKEEL EMESIPSPVA PLPTRTEGVI DMRSMSSIDS FISCATDFPE
610 620 630 640 650
ATRFSHSPLT SLPSKTGGST APEVGWRGAL GASGGRFVEA NPSPDASQHS
660 670 680 690 700
SFFIESPKSS MKTNNPLKLR ALKVNFMEGD PSPLLPVLGM YHDPLRNRGS
710 720 730 740 750
AAAAVAGLEC ATLLDKAVLS PESSIYTTAS AKTPPRSPEK HTAIAFNFEA
760 770 780 790 800
GVHQYIDADT DDEGQLLYSV DSSPPKSLPG STSPKFSTGT RSEKNHFESS
810 820 830 840 850
PLPTSPKFLR QNCIYSTEAL TGKGPSGQEK CKLENHISPD VRVLPGGGAH

GSTRDQSI
Length:858
Mass (Da):95,878
Last modified:October 25, 2002 - v2
Checksum:iC4B426174ED0DEE4
GO

Sequence cautioni

The sequence AAA36156.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti347 – 3471S → R in EIEE26; inhibits ion selectivity and gain of a depolarizing inward cation conductance; trafficks normally to the cell surface. 1 Publication
VAR_071991
Natural varianti374 – 3741T → I in EIEE26; inhibits ion selectivity and gain of a depolarizing inward cation conductance; trafficks normally to the cell surface. 1 Publication
VAR_071992
Natural varianti379 – 3791G → R in EIEE26; inhibits ion selectivity and gain of a depolarizing inward cation conductance; trafficks normally to the cell surface. 1 Publication
VAR_071993
Natural varianti616 – 6161T → N.
Corresponds to variant rs2229006 [ dbSNP | Ensembl ].
VAR_062182
Natural varianti616 – 6161T → S.
Corresponds to variant rs2229006 [ dbSNP | Ensembl ].
VAR_062183
Natural varianti825 – 8251P → S.
Corresponds to variant rs34467662 [ dbSNP | Ensembl ].
VAR_034049
Natural varianti857 – 8571S → N.
Corresponds to variant rs34280195 [ dbSNP | Ensembl ].
VAR_062184

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X68302 Genomic DNA. Translation: CAA48374.1.
L02840 mRNA. Translation: AAA36156.1. Different initiation.
AF026005 mRNA. Translation: AAB88808.1.
AL035685 Genomic DNA. Translation: CAB89417.1.
CCDSiCCDS13418.1.
PIRiS31761.
RefSeqiNP_004966.1. NM_004975.2.
XP_006723847.1. XM_006723784.1.
UniGeneiHs.84244.

Genome annotation databases

EnsembliENST00000371741; ENSP00000360806; ENSG00000158445.
GeneIDi3745.
KEGGihsa:3745.
UCSCiuc002xur.1. human.

Polymorphism databases

DMDMi24418854.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X68302 Genomic DNA. Translation: CAA48374.1.
L02840 mRNA. Translation: AAA36156.1. Different initiation.
AF026005 mRNA. Translation: AAB88808.1.
AL035685 Genomic DNA. Translation: CAB89417.1.
CCDSiCCDS13418.1.
PIRiS31761.
RefSeqiNP_004966.1. NM_004975.2.
XP_006723847.1. XM_006723784.1.
UniGeneiHs.84244.

3D structure databases

ProteinModelPortaliQ14721.
SMRiQ14721. Positions 30-462.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109947. 16 interactions.
IntActiQ14721. 1 interaction.
STRINGi9606.ENSP00000360806.

Chemistry

ChEMBLiCHEMBL2362996.
DrugBankiDB06637. Dalfampridine.
GuidetoPHARMACOLOGYi546.

Protein family/group databases

TCDBi1.A.1.2.11. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSiteiQ14721.

Polymorphism databases

DMDMi24418854.

2D gel databases

OGPiQ14721.

Proteomic databases

PaxDbiQ14721.
PRIDEiQ14721.

Protocols and materials databases

DNASUi3745.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371741; ENSP00000360806; ENSG00000158445.
GeneIDi3745.
KEGGihsa:3745.
UCSCiuc002xur.1. human.

Organism-specific databases

CTDi3745.
GeneCardsiGC20M047984.
HGNCiHGNC:6231. KCNB1.
HPAiCAB001979.
MIMi600397. gene.
616056. phenotype.
neXtProtiNX_Q14721.
PharmGKBiPA209.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1226.
GeneTreeiENSGT00760000118981.
HOGENOMiHOG000113206.
HOVERGENiHBG052225.
InParanoidiQ14721.
KOiK04885.
OMAiTEGVIDM.
OrthoDBiEOG7CRTPP.
PhylomeDBiQ14721.
TreeFamiTF313103.

Enzyme and pathway databases

ReactomeiREACT_18274. Glucagon-like Peptide-1 (GLP1) regulates insulin secretion.
REACT_75770. Voltage gated Potassium channels.

Miscellaneous databases

GeneWikiiKCNB1.
GenomeRNAii3745.
NextBioi14655.
PROiQ14721.
SOURCEiSearch...

Gene expression databases

BgeeiQ14721.
CleanExiHS_KCNB1.
GenevestigatoriQ14721.

Family and domain databases

Gene3Di1.20.120.350. 1 hit.
InterProiIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR003091. K_chnl.
IPR003968. K_chnl_volt-dep_Kv.
IPR003973. K_chnl_volt-dep_Kv2.
IPR004350. K_chnl_volt-dep_Kv2.1.
IPR003131. T1-type_BTB.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERiPTHR11537. PTHR11537. 1 hit.
PfamiPF02214. BTB_2. 1 hit.
PF00520. Ion_trans. 1 hit.
PF03521. Kv2channel. 1 hit.
[Graphical view]
PRINTSiPR00169. KCHANNEL.
PR01514. KV21CHANNEL.
PR01491. KVCHANNEL.
PR01495. SHABCHANNEL.
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of a human delayed rectifier potassium channel gene."
    Albrecht B., Lorra C., Stocker K., Pongs O.
    Recept. Channels 1:99-110(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Heterologous expression of the human potassium channel Kv2.1 in clonal mammalian cells by direct cytoplasmic microinjection of cRNA."
    Ikeda S.R., Soler F., Zuhlke R.D., Joho R.H., Lewis D.L.
    Pflugers Arch. 422:201-203(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain cortex.
  3. "Identification of potassium channels in human lens epithelium."
    Rae J.L., Shepard A.R.
    (In) Civan M.M. (eds.); The eye's aqueous humor-from secretion to glaucoma, pp.69-104, Academic Press, San Diego (1998)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Lens epithelium.
  4. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: VARIANTS EIEE26 ARG-347; ILE-374 AND ARG-379, CHARACTERIZATION OF VARIANTS EIEE26 ARG-347; ILE-374 AND ARG-379, INVOLVEMENT IN EIEE26.

Entry informationi

Entry nameiKCNB1_HUMAN
AccessioniPrimary (citable) accession number: Q14721
Secondary accession number(s): Q14193
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: October 25, 2002
Last modified: February 4, 2015
This is version 130 of the entry and version 2 of the sequence. [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 20
    Human chromosome 20: 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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.