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

    Gene ID: 7881, updated on 30-Oct-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
    mouse all
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    Genomic context

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    See KCNAB1 in Genome Data Viewer
    Location:
    3q25.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (156118211..156539138)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (158892837..159313792)
    RS_2024_09 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 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. 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
    2. Structural and functional characterization of human potassium channel subunit beta 1 (KCNA1B). Leicher T, et al. Neuropharmacology, 1996. PMID 8938711
    3. 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
    4. 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
    5. The potassium channel subunit K(v)β1 serves as a major control point for synaptic facilitation. Cho IH, et al. Proc Natl Acad Sci U S A, 2020 Nov 24. PMID 33168717, 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 alcohol dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 carbonyl reductase (NADPH) activity IEA
    Inferred from Electronic Annotation
    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

    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_2024_08

    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
      Q5MJQ3

    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
      Q5MJQ3
      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

      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
      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
      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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