KCNB1 potassium voltage-gated channel, Shab-related subfamily, member 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: KCNB1provided by HGNC
Official Full Name: potassium voltage-gated channel, Shab-related subfamily, member 1provided by HGNC
Primary source: HGNC:6231
See related: HPRD:08983; MIM:600397
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DRK1; KV2.1; h-DRK1
Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 20q13.2

Sequence :: Chromosome: 20; NC_000020.10 (47988505..48099181, complement)

See KCNB1 in Epigenomics, MapViewer

Chromosome 20 - NC_000020.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Somatodendritic Kv2.1 channels in the motor neurons of lower spinal cord significantly decrease correlating with experimental autoimmune encephalomyelitis severity.
Title: K+ channel alterations in the progression of experimental autoimmune encephalomyelitis.
Direct interaction between syntaxin 1A and the Kv2.1 C-terminus is required for efficient insulin exocytosis and glucose-stimulated insulin secretion.
Title: The voltage-dependent potassium channel subunit Kv2.1 regulates insulin secretion from rodent and human islets independently of its electrical function.
Here, we show that tyrosine phosphorylation by Src plays a fundamental role in regulating Kv2.1-mediated K(+) current enhancement. We found that the level of expression of the Kv2.1 protein is increased by Src kinase.
Title: Dynamic modulation of the kv2.1 channel by SRC-dependent tyrosine phosphorylation.
The results of this study that KCNB1 is a novel mechanism of toxicity in neurodegenerative disease.
Title: Toxic role of K+ channel oxidation in mammalian brain.
Functional interactions between residues in the S1, S4, and S5 domains of Kv2.1 in human were studied.
Title: Functional interactions between residues in the S1, S4, and S5 domains of Kv2.1.
analysis of of kv2.1 channel diffusion observed by single molecule tracking in live cells
Title: Anomalous diffusion of kv2.1 channels observed by single molecule tracking in live cells.
Taken together the observations indicate that, as in Shaker, the quinidine-promoted collapse of Shab G(K) occurs during deactivation of the channels, at the end of each activating pulse, with a probability of 0.1 per pulse at 80 mV.
Title: Quinidine interaction with Shab K+ channels: pore block and irreversible collapse of the K+ conductance.
analysis of binding sites of structurally different antiarrhythmics flecainide and propafenone in the subunit interface of potassium channel Kv2.1
Title: Overlapping binding sites of structurally different antiarrhythmics flecainide and propafenone in the subunit interface of potassium channel Kv2.1.
Data suggest that unique roles for the clustered Kv2.1 that are independent of K(+) conductance.
Title: Localization-dependent activity of the Kv2.1 delayed-rectifier K+ channel.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all (27)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q14721	Q14721	KCNB1	HPRD	PubMed
Q14721	Q9UIX4	KCNG1	HPRD	PubMed
Q14721	Q9UJ96	KCNG2	HPRD	PubMed
Q14721	Q8TAE7	KCNG3	HPRD	PubMed
Q14721	Q8TDN1	KCNG4	HPRD	PubMed
Q14721	Q9BQ31	KCNS3	HPRD	PubMed
Q14721	Q6PIU1	KCNV1	HPRD	PubMed
Q14721	Q8TDN2	KCNV2	HPRD	PubMed
Q14721	P23469	PTPRE	HPRD	PubMed
Q14721	P60880	SNAP25	HPRD	PubMed
Q14721	P12931	SRC	HPRD	PubMed
Q14721	Q16623	STX1A	HPRD	PubMed
BioGRID:109947	BioGRID:109947	KCNB1	BioGRID	PubMed	FRET; Two-hybrid
BioGRID:109947	BioGRID:114724	KCNB2	BioGRID	PubMed	Two-hybrid
BioGRID:109947	BioGRID:109957	KCNG1	BioGRID	PubMed	Two-hybrid
BioGRID:109947	BioGRID:117638	KCNG2	BioGRID	PubMed	Two-hybrid
BioGRID:109947	BioGRID:128090	KCNG3	BioGRID	PubMed	Affinity Capture-Western; FRET; Two-hybrid
BioGRID:109947	BioGRID:125002	KCNG4	BioGRID	PubMed	Affinity Capture-Western; FRET; Two-hybrid
BioGRID:109947	BioGRID:109958	KCNH1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:109947	BioGRID:109991	KCNS3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109947	BioGRID:117954	KCNV1	BioGRID	PubMed	Reconstituted Complex
BioGRID:109947	BioGRID:127982	KCNV2	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:109947	BioGRID:116915	NEDD4L	BioGRID	PubMed	Biochemical Activity; Reconstituted Complex
BioGRID:109947	BioGRID:111755	PTPRE	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109947	BioGRID:112500	SNAP25	BioGRID	PubMed	Reconstituted Complex
BioGRID:109947	BioGRID:112592	SRC	BioGRID	PubMed	Biochemical Activity
BioGRID:109947	BioGRID:112676	STX1A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109947	BioGRID:113188	SUMO1	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
Integration of energy metabolism, organism-specific biosystem (from REACTOME)
Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Neuronal System, organism-specific biosystem (from REACTOME)
Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
Potassium Channels, organism-specific biosystem (from REACTOME)
Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
Regulation of Insulin Secretion, organism-specific biosystem (from REACTOME)
Regulation of Insulin Secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
Regulation of Insulin Secretion by Glucagon-like Peptide-1, organism-specific biosystem (from REACTOME)
Regulation of Insulin Secretion by Glucagon-like Peptide-1, organism-specific biosystemGlucagon-like Peptide-1 (GLP-1) is secreted by L-cells in the intestine in response to glucose and fatty acids. GLP-1 circulates to the beta cells of the pancreas where it binds a G-protein coupled r...
Taste transduction, organism-specific biosystem (from KEGG)
Taste transduction, organism-specific biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
Taste transduction, conserved biosystem (from KEGG)
Taste transduction, conserved biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

General gene information

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Markers

D20S1096 (e-PCR)
- UniSTS:51006

D20S809 (e-PCR)
- UniSTS:81021

KCNB1_1313 (e-PCR)
- UniSTS:277409

KCNB1_v397 (e-PCR)
- UniSTS:277409

AL031795 (e-PCR)
- UniSTS:93118

SHGC-31067 (e-PCR)
- UniSTS:62935

G01535 (e-PCR)
- UniSTS:57822

Homology

Homologs of the KCNB1 gene: The KCNB1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
outward rectifier potassium channel activity	IEA Inferred from Electronic Annotation more info
protein N-terminus binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
energy reserve metabolic process	TAS Traceable Author Statement more info
protein homooligomerization	IEA Inferred from Electronic Annotation more info
regulation of insulin secretion	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
synaptic transmission	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
dendrite	IEA Inferred from Electronic Annotation more info
dendrite membrane	IEA Inferred from Electronic Annotation more info
neuronal cell body membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info
voltage-gated potassium channel complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: potassium voltage-gated channel subfamily B member 1

Names: potassium voltage-gated channel subfamily B member 1; h-DRK1 K(+) channel; potassium channel protein DRK1; delayed rectifier potassium channel 1; delayed rectifier potassium channel Kv2.1; voltage-gated potassium channel subunit Kv2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004975.2 → NP_004966.1 potassium voltage-gated channel subfamily B member 1

Status: REVIEWED

Source sequence(s)

L02840

Consensus CDS

CCDS13418.1

UniProtKB/Swiss-Prot

Q14721

Conserved Domains (5) summary

pfam03521
Location:467 – 716
Blast Score: 813

Kv2channel; Kv2 voltage-gated K+ channel

pfam00520
Location:232 – 399
Blast Score: 352

Ion_trans; Ion transport protein

pfam02214
Location:33 – 132
Blast Score: 376

K_tetra; K+ channel tetramerisation domain

pfam07885
Location:337 – 400
Blast Score: 147

Ion_trans_2; Ion channel

pfam08016
Location:208 – 347
Blast Score: 101

PKD_channel; Polycystin cation channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000020.10 Reference GRCh37.p10 Primary Assembly

Range

47988505..48099181, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000152.1 Alternate HuRef

Range

44737067..44847754, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018931.1 Alternate CHM1_1.0

Range

47959524..48070202, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01052745.1 (14395..125082)	None
genomic	AL035685.21 (38929..149605)	None
genomic	AMYH01011966.1 (30795..141473)	None
genomic	CH471077.2	EAW75656.1
genomic	X68302.1	CAA48374.1
mRNA	AF026005.1	AAB88808.1
mRNA	BC110572.1	AAI10573.1
mRNA	BC110573.1	AAI10574.1
mRNA	L02840.1	AAA36156.1
other-genetic	BC156166.1	AAI56167.1
other-genetic	BC172466.1	AAI72466.1