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KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 [ Homo sapiens (human) ]

Gene ID: 7881, updated on 13-Apr-2024

Summary

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Official Symbol
KCNAB1provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily A regulatory beta subunit 1provided by HGNC
Primary source
HGNC:HGNC:6228
See related
Ensembl:ENSG00000169282 MIM:601141; AllianceGenome:HGNC:6228
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
hKvb3; AKR6A3; KCNA1B; Kvb1.3; hKvBeta3; KV-BETA-1
Summary
Potassium 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, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]
Expression
Broad expression in thyroid (RPKM 8.2), fat (RPKM 4.6) and 20 other tissues See more
Orthologs
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Genomic context

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Location:
3q25.31
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (156118211..156539138)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (158892837..159313792)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (155838337..156256927)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ALG1 like 15, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:155804925-155805426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:155805427-155805926 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:155811656-155812183 Neighboring gene MRE11 homolog, double strand break repair nuclease pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:155895222-155895424 Neighboring gene SNRNP40 pseudogene 1 Neighboring gene KCNAB1 antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:156001911-156002494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:156008688-156009444 Neighboring gene NANOG hESC enhancer GRCh37_chr3:156029203-156029704 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:156034549-156035748 Neighboring gene uncharacterized LOC124906298 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:156174295-156175494 Neighboring gene KCNAB1 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:156180752-156181363 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:156200851-156202050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:156251527-156252026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20728 Neighboring gene signal sequence receptor subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14838 Neighboring gene TIPARP antisense RNA 1 Neighboring gene TCDD inducible poly(ADP-ribose) polymerase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients. Quintanilha JCF, et al. Br J Cancer, 2022 Feb. PMID 34616010, Free PMC Article
  2. Structural and functional characterization of human potassium channel subunit beta 1 (KCNA1B). Leicher T, et al. Neuropharmacology, 1996. PMID 8938711
  3. Characterization of a voltage-gated K+ channel beta subunit expressed in human heart. England SK, et al. Proc Natl Acad Sci U S A, 1995 Jul 3. PMID 7603988, Free PMC Article
  4. A novel K+ channel beta-subunit (hKv beta 1.3) is produced via alternative mRNA splicing. England SK, et al. J Biol Chem, 1995 Dec 1. PMID 7499366
  5. K(V)1.5-K(V)β1.3 Recycling Is PKC-Dependent. Macias A, et al. Int J Mol Sci, 2021 Jan 29. PMID 33572906, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients.
    Title: Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients.
  2. KV1.5-KVbeta1.3 Recycling Is PKC-Dependent.
    Title: K(V)1.5-K(V)β1.3 Recycling Is PKC-Dependent.
  3. The potassium channel subunit Kvbeta1 serves as a major control point for synaptic facilitation.
    Title: The potassium channel subunit K(v)β1 serves as a major control point for synaptic facilitation.
  4. Genetic variations of KCNAB1 and CRYAA are associated with age-related nuclear cataract.
    Title: Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
  5. Protein kinase C inhibition results in a Kv 1.5 and Kv beta 1.3 pharmacology closer to Kv 1.5 channels
    Title: PKC inhibition results in a Kv 1.5 + Kv β1.3 pharmacology closer to Kv 1.5 channels.
  6. These results support KCNAB1 as a susceptibility gene for lateral temporal epilepsy , in agreement with previous studies showing that this gene may alter susceptibility to focal epilepsy.
    Title: Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  8. 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.
  9. Double-mutant cycle analysis indicates that R5 of Kvbeta1.3 interacts with A501 and T480 of Kv1.5, residues located deep within the pore of the channel.
    Title: Structural determinants of Kvbeta1.3-induced channel inactivation: a hairpin modulated by PIP2.
  10. Meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADPH binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables aldo-keto reductase (NADPH) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aldo-keto reductase (NADPH) activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables molecular function inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables potassium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables potassium channel regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane transporter binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables voltage-gated potassium channel activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in negative regulation of voltage-gated potassium channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in potassium ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of delayed rectifier potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in juxtaparanode region of axon IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of potassium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated potassium channel complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
voltage-gated potassium channel subunit beta-1
Names
K(+) channel subunit beta-1
K+ channel Beta1a chain
potassium channel beta 3 chain
potassium channel beta3 subunit
potassium channel shaker chain beta 1a
potassium channel, voltage gated subfamily A regulatory beta subunit 1
potassium voltage-gated channel subfamily A member regulatory beta subunit 1
potassium voltage-gated channel, shaker-related subfamily, beta member 1
NP_001295146.1
NP_001295151.1
NP_003462.2
NP_751891.1
NP_751892.1
XP_011511417.1
XP_011511418.1
XP_011511419.1
XP_016862660.1
XP_016862662.1
XP_016862663.1
XP_054203802.1
XP_054203803.1
XP_054203804.1
XP_054203805.1
XP_054203806.1
XP_054203807.1

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.

Genomic

  1. NG_042292.1 RefSeqGene

    Range
    5031..423058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308217.1 → NP_001295146.1  voltage-gated potassium channel subunit beta-1 isoform 4

    See identical proteins and their annotated locations for NP_001295146.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 4 which is shorter compared to isoform 1.
    Source sequence(s)
    AC092927, AK303287, BC043166, DC410397
    Consensus CDS
    CCDS77844.1
    UniProtKB/TrEMBL
    B7Z8E5, Q5MJQ3
    Related
    ENSP00000374287.5, ENST00000389636.9
    Conserved Domains (2) summary
    cd06660
    Location:91 → 377
    Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
    TIGR01293
    Location:91 → 378
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

  2. NM_001308222.1 → NP_001295151.1  voltage-gated potassium channel subunit beta-1 isoform 5

    See identical proteins and their annotated locations for NP_001295151.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks a 5' exon, uses an alternate 5' terminal, initiates translation at an alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 5 which has a distinct N-terminus and is shorter compared to isoform 1.
    Source sequence(s)
    AC022013, AC069413, AC092927, AY780786, BC043166
    Consensus CDS
    CCDS77845.1
    UniProtKB/TrEMBL
    F8W6W4, Q5MJQ3
    Related
    ENSP00000374285.5, ENST00000389634.5
    Conserved Domains (1) summary
    cl00470
    Location:71 → 364
    AKR_SF; Aldo-keto reductase (AKR) superfamily

  3. NM_003471.3 → NP_003462.2  voltage-gated potassium channel subunit beta-1 isoform 2

    See identical proteins and their annotated locations for NP_003462.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' sequence including the 5' UTR and the 5' coding region, as compared to variant 1. It encodes isoform 2, also known as kvb1.2, which has a shorter and distinct N-terminus than isoform 1.
    Source sequence(s)
    AC091607, AC092927, AI344124, AK057059, BC043166, DA408045, L39833
    Consensus CDS
    CCDS3175.1
    UniProtKB/Swiss-Prot
    Q14722
    Related
    ENSP00000418956.1, ENST00000471742.5
    Conserved Domains (1) summary
    TIGR01293
    Location:80 → 396
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

  4. NM_172159.3 → NP_751891.1  voltage-gated potassium channel subunit beta-1 isoform 3

    See identical proteins and their annotated locations for NP_751891.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' sequence including the 5' UTR and the 5' coding region, as compared to variant 1. It encodes isoform 3, also known as kvb1.3, which has a shorter and distinct N-terminus than isoform 1.
    Source sequence(s)
    AC092927, AI344124, AK057059, BC043166, DA331209
    Consensus CDS
    CCDS33882.1
    UniProtKB/TrEMBL
    Q5MJQ3
    Related
    ENSP00000305858.8, ENST00000302490.12
    Conserved Domains (1) summary
    cd19159
    Location:71 → 393
    AKR_KCAB1B_AKR6A3-like; voltage-gated potassium channel subunit beta-1 (KCAB1B) and similar proteins

  5. NM_172160.3 → NP_751892.1  voltage-gated potassium channel subunit beta-1 isoform 1

    See identical proteins and their annotated locations for NP_751892.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1), which is also known as kvb1.1.
    Source sequence(s)
    AC092927, AK057059, BC043166, L47665
    Consensus CDS
    CCDS3174.1
    UniProtKB/Swiss-Prot
    A8K9H8, A8KAD4, B3KPZ4, Q13031, Q13302, Q14722, Q16547, Q6PI60, Q99869
    Related
    ENSP00000419952.1, ENST00000490337.6
    Conserved Domains (2) summary
    cd06660
    Location:91 → 406
    Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
    TIGR01293
    Location:91 → 407
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    156118211..156539138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007171.3 → XP_016862660.1  voltage-gated potassium channel subunit beta-1 isoform X1

    UniProtKB/TrEMBL
    A0A087X1P8

  2. XM_017007174.3 → XP_016862663.1  voltage-gated potassium channel subunit beta-1 isoform X5

  3. XM_011513115.4 → XP_011511417.1  voltage-gated potassium channel subunit beta-1 isoform X2

    UniProtKB/TrEMBL
    A0A087X1P8
    Conserved Domains (2) summary
    cd06660
    Location:9 → 324
    Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
    TIGR01293
    Location:10 → 325
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

  4. XM_011513116.4 → XP_011511418.1  voltage-gated potassium channel subunit beta-1 isoform X3

    UniProtKB/TrEMBL
    A0A087X1P8
    Conserved Domains (2) summary
    cd06660
    Location:36 → 321
    Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
    TIGR01293
    Location:36 → 322
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

  5. XM_011513117.4 → XP_011511419.1  voltage-gated potassium channel subunit beta-1 isoform X4

    See identical proteins and their annotated locations for XP_011511419.1

    UniProtKB/TrEMBL
    A0A087X1P8, B7Z435
    Conserved Domains (1) summary
    cl00470
    Location:1 → 287
    AKR_SF; Aldo-keto reductase (AKR) superfamily

  6. XM_017007173.3 → XP_016862662.1  voltage-gated potassium channel subunit beta-1 isoform X4

    UniProtKB/TrEMBL
    A0A087X1P8, B7Z435
    Conserved Domains (1) summary
    cl00470
    Location:1 → 287
    AKR_SF; Aldo-keto reductase (AKR) superfamily

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    158892837..159313792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347827.1 → XP_054203802.1  voltage-gated potassium channel subunit beta-1 isoform X1

  2. XM_054347832.1 → XP_054203807.1  voltage-gated potassium channel subunit beta-1 isoform X5

  3. XM_054347828.1 → XP_054203803.1  voltage-gated potassium channel subunit beta-1 isoform X2

  4. XM_054347829.1 → XP_054203804.1  voltage-gated potassium channel subunit beta-1 isoform X3

  5. XM_054347831.1 → XP_054203806.1  voltage-gated potassium channel subunit beta-1 isoform X4

    UniProtKB/TrEMBL
    B7Z435

  6. XM_054347830.1 → XP_054203805.1  voltage-gated potassium channel subunit beta-1 isoform X4

    UniProtKB/TrEMBL
    B7Z435
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14722.1 GenPept UniProtKB/Swiss-Prot:Q14722

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