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

    Gene ID: 3745, updated on 6-Jun-2024

    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; AllianceGenome:HGNC:6231
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNB1 in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (49363877..49483362, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (51133489..51253649, complement)
    105.20220307 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 NANOG-H3K27ac hESC enhancer GRCh37_chr20:47900044-47900976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:47902841-47903772 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:47903773-47904704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18060 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47909763-47910696 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:47910697-47911630 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:47911631-47912563 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47913664-47914226 Neighboring gene small nucleolar RNA, C/D box 12 Neighboring gene ZNFX1 antisense RNA 1 Neighboring gene uncharacterized LOC124904925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47934991-47935572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47935573-47936154 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:47940265-47940766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:47940767-47941266 Neighboring gene uncharacterized LOC105372649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18061 Neighboring gene NANOG hESC enhancer GRCh37_chr20:47985158-47985711 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:47990213-47990475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:48040793-48041316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:48041317-48041840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:48063137-48063648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48063649-48064158 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48064159-48064670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12997 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:48121719-48122220 Neighboring gene prostaglandin I2 synthase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18062 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:48158843-48159119 Neighboring gene uncharacterized LOC101927486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48184974-48185590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48185591-48186205 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48196657-48197231 Neighboring gene uncharacterized LOC105372651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:48212298-48212798

    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
    Developmental and epileptic encephalopathy, 26
    MedGen: C4015119 OMIM: 616056 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    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
     
    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 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 
    Process Evidence Code Pubs
    involved_in action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in action potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    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 clustering of voltage-gated potassium channels IEA
    Inferred from Electronic Annotation
    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
     
    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 motor neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to L-glutamate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle docking involved in exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 cholinergic synapse 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
     
    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
     
    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 perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    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
     
    located_in postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in proximal dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    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
      Q14193, Q14721
      UniProtKB/TrEMBL
      Q2NLD5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      49363877..49483362 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528799.3XP_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
      Q14193, Q14721
      UniProtKB/TrEMBL
      Q2NLD5
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      51133489..51253649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323413.1XP_054179388.1  potassium voltage-gated channel subfamily B member 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14193, Q14721
      UniProtKB/TrEMBL
      Q2NLD5
    2. XM_054323414.1XP_054179389.1  potassium voltage-gated channel subfamily B member 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14193, Q14721
      UniProtKB/TrEMBL
      Q2NLD5