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KCNB1 potassium voltage-gated channel subfamily B member 1 [ Homo sapiens (human) ]

Gene ID: 3745, updated on 5-Jan-2022

Summary

Official Symbol
KCNB1provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily B member 1provided by HGNC
Primary source
HGNC:HGNC:6231
See related
Ensembl:ENSG00000158445 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; DEE26; Kv2.1
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]
Expression
Biased expression in brain (RPKM 9.2), fat (RPKM 8.5) and 6 other tissues See more
Orthologs
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Genomic context

See KCNB1 in Genome Data Viewer
Location:
20q13.13
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (49363877..49484033, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (47980414..48099205, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 12B Neighboring gene small nucleolar RNA, C/D box 12 Neighboring gene ZNFX1 antisense RNA 1 Neighboring gene uncharacterized LOC105372649 Neighboring gene prostaglandin I2 synthase Neighboring gene uncharacterized LOC101927486 Neighboring gene uncharacterized LOC105372651

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Epileptic encephalopathy, early infantile, 26
MedGen: C4015119 OMIM: 616056 GeneReviews: Not available
Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 Env gp120 upregulates voltage-gated potassium channels (Kv2.1) via p38 MAPK pathway in hippocampal neurons PubMed
env HIV-1 gp120-induced dephosphorylation of KV2.1 and re-localization of KV2.1 on the soma and proximal dendrites results in disruption of the clustered KV2.1 via activation of CCR5/CXCR4 co-receptors or SDF-1 alpha treatment PubMed
env HIV-1 gp120-induced dephosphorylation of KV2.1 is dependent on NMDA receptor-mediated activation of protein phosphatase 2B or calcineurin PubMed
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNARE binding IEA
Inferred from Electronic Annotation
more info
 
enables delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables delayed rectifier potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables outward rectifier potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
enables protein N-terminus binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in action potential IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to nutrient levels ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glutamate receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of calcium ion-dependent exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of catecholamine secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of long-term synaptic depression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of norepinephrine secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein targeting to membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein targeting to membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in potassium ion export across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of action potential ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of motor neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in vesicle docking involved in exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in dendrite membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuronal cell body membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in perikaryon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
 
part_of voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
potassium voltage-gated channel subfamily B member 1
Names
delayed rectifier potassium channel 1
potassium voltage-gated channel, Shab-related subfamily, member 1
voltage-gated potassium channel subunit Kv2.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_041781.2 RefSeqGene

    Range
    4977..123768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004975.4NP_004966.1  potassium voltage-gated channel subfamily B member 1

    See identical proteins and their annotated locations for NP_004966.1

    Status: REVIEWED

    Source sequence(s)
    AF026005, AL035685, H12055, L02840
    Consensus CDS
    CCDS13418.1
    UniProtKB/Swiss-Prot
    Q14721
    Related
    ENSP00000360806.3, ENST00000371741.6
    Conserved Domains (3) summary
    cd18412
    Location:15141
    BTB_POZ_KCNB2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily B member 2 (KCNB2)
    pfam00520
    Location:188424
    Ion_trans; Ion transport protein
    pfam03521
    Location:467679
    Kv2channel; Kv2 voltage-gated K+ channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    49363877..49484033 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723784.3XP_006723847.1  potassium voltage-gated channel subfamily B member 1 isoform X1

    See identical proteins and their annotated locations for XP_006723847.1

    UniProtKB/Swiss-Prot
    Q14721
    Related
    ENSP00000489193.1, ENST00000635465.1
    Conserved Domains (3) summary
    cd18412
    Location:15141
    BTB_POZ_KCNB2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily B member 2 (KCNB2)
    pfam00520
    Location:188424
    Ion_trans; Ion transport protein
    pfam03521
    Location:467679
    Kv2channel; Kv2 voltage-gated K+ channel
  2. XM_011528799.2XP_011527101.1  potassium voltage-gated channel subfamily B member 1 isoform X1

    See identical proteins and their annotated locations for XP_011527101.1

    UniProtKB/Swiss-Prot
    Q14721
    Conserved Domains (3) summary
    cd18412
    Location:15141
    BTB_POZ_KCNB2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily B member 2 (KCNB2)
    pfam00520
    Location:188424
    Ion_trans; Ion transport protein
    pfam03521
    Location:467679
    Kv2channel; Kv2 voltage-gated K+ channel
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