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

Gene ID: 7881, updated on 17-Jun-2019

Summary

Official Symbol
KCNAB1provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily A member regulatory beta subunit 1provided by HGNC
Primary source
HGNC:HGNC:6228
See related
Ensembl:ENSG00000169282 MIM:601141
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

Genomic context

See KCNAB1 in Genome Data Viewer
Location:
3q25.31
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (156118216..156542648)
105 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 MRE11 homolog, double strand break repair nuclease pseudogene 1 Neighboring gene small nuclear ribonucleoprotein U5 subunit 40 pseudogene Neighboring gene KCNAB1 antisense RNA 2 Neighboring gene KCNAB1 antisense RNA 1 Neighboring gene signal sequence receptor subunit 3 Neighboring gene uncharacterized LOC107986148 Neighboring gene TIPARP antisense RNA 1 Neighboring gene TCDD inducible poly(ADP-ribose) polymerase

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    Metapathway biotransformation, organism-specific biosystem
    Metapathway biotransformation
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADPH binding IDA
Inferred from Direct Assay
more info
PubMed 
aldo-keto reductase (NADP) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ion channel binding IEA
Inferred from Electronic Annotation
more info
 
potassium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
diaphragm development IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
learning or memory IEA
Inferred from Electronic Annotation
more info
 
myoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of delayed rectifier potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of voltage-gated potassium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of delayed rectifier potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
juxtaparanode region of axon IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
proximal dendrite IEA
Inferred from Electronic Annotation
more info
 
voltage-gated potassium channel complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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, shaker-related subfamily, beta member 1

NCBI Reference Sequences (RefSeq)

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
    5001..423591
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308217.1NP_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/Swiss-Prot
    Q14722
    UniProtKB/TrEMBL
    B7Z8E5
    Related
    ENSP00000374287.5, ENST00000389636.9
    Conserved Domains (2) summary
    cd06660
    Location:91377
    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:91378
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  2. NM_001308222.1NP_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/Swiss-Prot
    Q14722
    UniProtKB/TrEMBL
    F8W6W4, Q5MJQ3
    Related
    ENSP00000374285.5, ENST00000389634.5
    Conserved Domains (1) summary
    cl00470
    Location:73360
    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 ...
  3. NM_003471.3NP_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:80396
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  4. NM_172159.3NP_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/Swiss-Prot
    Q14722
    Related
    ENSP00000305858.8, ENST00000302490.12
    Conserved Domains (1) summary
    TIGR01293
    Location:73389
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  5. NM_172160.2NP_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, AI344124, AK057059, BC043166, DC410397, L47665
    Consensus CDS
    CCDS3174.1
    UniProtKB/Swiss-Prot
    Q14722
    Related
    ENSP00000419952.1, ENST00000490337.5
    Conserved Domains (2) summary
    cd06660
    Location:91406
    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:91407
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    156118216..156542648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007171.2XP_016862660.1  voltage-gated potassium channel subunit beta-1 isoform X1

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

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

    Conserved Domains (2) summary
    cd06660
    Location:9324
    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:10325
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  4. XM_011513116.3XP_011511418.1  voltage-gated potassium channel subunit beta-1 isoform X3

    Conserved Domains (2) summary
    cd06660
    Location:36321
    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:36322
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  5. XM_011513117.3XP_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:1283
    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 ...
  6. XM_017007173.2XP_016862662.1  voltage-gated potassium channel subunit beta-1 isoform X4

    UniProtKB/TrEMBL
    B7Z435
    Conserved Domains (1) summary
    cl00470
    Location:1283
    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 ...
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