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

Gene ID: 9196, updated on 11-Apr-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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Location:
17p13.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7921859..7929856, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7827287..7835284, complement)
105.20220307 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
  • 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_2023_10

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

Gene LinkOut

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