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    KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 [ Homo sapiens (human) ]

    Gene ID: 9196, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KCNAB3provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily A regulatory beta subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:6230
    See related
    Ensembl:ENSG00000170049 MIM:604111; AllianceGenome:HGNC:6230
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AKR6A9; KCNA3B; KCNA3.1B; KV-BETA-3
    Summary
    This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]
    Expression
    Broad expression in endometrium (RPKM 5.0), brain (RPKM 1.9) and 18 other tissues See more
    Orthologs
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    Genomic context

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    See KCNAB3 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7921859..7929856, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7827287..7835284, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7825177..7833174, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene chromodomain helicase DNA binding protein 3 Neighboring gene small Cajal body-specific RNA 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7818325-7819258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8148 Neighboring gene ring finger protein 227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11657 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7836395-7836572 Neighboring gene trafficking protein particle complex subunit 1 Neighboring gene centrobin, centriole duplication and spindle assembly protein

    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. H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus. Ding J, et al. Brain Behav, 2020 Dec. PMID 32990398, Free PMC Article
    2. Coexpression of the KCNA3B gene product with Kv1.5 leads to a novel A-type potassium channel. Leicher T, et al. J Biol Chem, 1998 Dec 25. PMID 9857044
    3. Alternative splicing of the human Shaker K+ channel beta 1 gene and functional expression of the beta 2 gene product. McCormack K, et al. FEBS Lett, 1995 Aug 14. PMID 7649300
    4. Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. Persaud A, et al. Mol Syst Biol, 2009. PMID 19953087, Free PMC Article
    5. USP45 and Spindly are part of the same complex implicated in cell migration. Conte C, et al. Sci Rep, 2018 Sep 26. PMID 30258100, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus.
      Title: H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus.
    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

    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

    Clone Names

    • FLJ99419, MGC116886

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aldo-keto reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables potassium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein 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 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 potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    voltage-gated potassium channel subunit beta-3
    Names
    K(+) channel subunit beta-3
    potassium channel, voltage gated subfamily A regulatory beta subunit 3
    potassium channel, voltage-dependent, beta-3 subunit
    potassium voltage-gated channel, shaker-related subfamily, beta member 3

    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)

    1. NM_004732.4 → NP_004723.2  voltage-gated potassium channel subunit beta-3

      See identical proteins and their annotated locations for NP_004723.2

      Status: VALIDATED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS11124.1
      UniProtKB/Swiss-Prot
      O43448, Q4VAW0
      Related
      ENSP00000302719.2, ENST00000303790.3
      Conserved Domains (1) summary
      cd19160
      Location:76 → 400
      AKR_KCAB3B_AKR6A9-like; voltage-gated potassium channel subunit beta-3 (KCAB3B) and similar proteins

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7921859..7929856 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437046.1 → XP_047293002.1  voltage-gated potassium channel subunit beta-3 isoform X3

    2. XM_047437048.1 → XP_047293004.1  voltage-gated potassium channel subunit beta-3 isoform X6

    3. XM_047437047.1 → XP_047293003.1  voltage-gated potassium channel subunit beta-3 isoform X5

    4. XM_047437044.1 → XP_047293000.1  voltage-gated potassium channel subunit beta-3 isoform X1

    5. XM_047437045.1 → XP_047293001.1  voltage-gated potassium channel subunit beta-3 isoform X2

    6. XM_047437049.1 → XP_047293005.1  voltage-gated potassium channel subunit beta-3 isoform X7

    7. XM_011524068.2 → XP_011522370.1  voltage-gated potassium channel subunit beta-3 isoform X4

      Conserved Domains (1) summary
      cd06660
      Location:31 → 300
      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 ...

    RNA

    1. XR_007065532.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7827287..7835284 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317771.1 → XP_054173746.1  voltage-gated potassium channel subunit beta-3 isoform X3

    2. XM_054317774.1 → XP_054173749.1  voltage-gated potassium channel subunit beta-3 isoform X6

    3. XM_054317773.1 → XP_054173748.1  voltage-gated potassium channel subunit beta-3 isoform X5

    4. XM_054317769.1 → XP_054173744.1  voltage-gated potassium channel subunit beta-3 isoform X1

    5. XM_054317770.1 → XP_054173745.1  voltage-gated potassium channel subunit beta-3 isoform X2

    6. XM_054317775.1 → XP_054173750.1  voltage-gated potassium channel subunit beta-3 isoform X7

    7. XM_054317772.1 → XP_054173747.1  voltage-gated potassium channel subunit beta-3 isoform X4

    RNA

    1. XR_008484964.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43448.2 GenPept UniProtKB/Swiss-Prot:O43448

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