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

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
KV1.5-KVbeta1.3 Recycling Is PKC-Dependent.
Title: K(V)1.5-K(V)β1.3 Recycling Is PKC-Dependent.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
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.
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.
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 EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62507 (e-PCR)
- UniSTS:139565

SHGC-141756 (e-PCR)
- UniSTS:171069

D3S1275 (e-PCR), detects polymorphism
- UniSTS:46450

D3S1275 (e-PCR), detects polymorphism
- UniSTS:30591

STS-N40948 (e-PCR)
- UniSTS:31634

KCNAB1_875 (e-PCR)
- UniSTS:277408

KCNAB1_V170 (e-PCR)
- UniSTS:277408

SHGC-148274 (e-PCR)
- UniSTS:172970

SHGC-31546 (e-PCR)
- UniSTS:27054

SHGC-32084 (e-PCR)
- UniSTS:16058

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 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

NP_001295146.1

EC 1.1.1.-

NP_001295151.1

EC 1.1.1.-

NP_003462.2

EC 1.1.1.-

NP_751891.1

EC 1.1.1.-

NP_751892.1

EC 1.1.1.-

XP_011511417.1

EC 1.1.1.-

XP_011511418.1

EC 1.1.1.-

XP_011511419.1

EC 1.1.1.-

XP_016862660.1

EC 1.1.1.-

XP_016862662.1

EC 1.1.1.-

XP_016862663.1

EC 1.1.1.-

XP_054203802.1

EC 1.1.1.-

XP_054203803.1

EC 1.1.1.-

XP_054203804.1

EC 1.1.1.-

XP_054203805.1

EC 1.1.1.-

XP_054203806.1

EC 1.1.1.-

XP_054203807.1

EC 1.1.1.-

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

NG_042292.1 RefSeqGene

Range

5031..423058

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

156118211..156539138

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q5MJQ3
XM_017007174.3 → XP_016862663.1 voltage-gated potassium channel subunit beta-1 isoform X5
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
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
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
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

NC_060927.1 Alternate T2T-CHM13v2.0

Range

158892837..159313792

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054347827.1 → XP_054203802.1 voltage-gated potassium channel subunit beta-1 isoform X1
XM_054347832.1 → XP_054203807.1 voltage-gated potassium channel subunit beta-1 isoform X5
XM_054347828.1 → XP_054203803.1 voltage-gated potassium channel subunit beta-1 isoform X2
XM_054347829.1 → XP_054203804.1 voltage-gated potassium channel subunit beta-1 isoform X3
XM_054347831.1 → XP_054203806.1 voltage-gated potassium channel subunit beta-1 isoform X4

UniProtKB/TrEMBL

B7Z435
XM_054347830.1 → XP_054203805.1 voltage-gated potassium channel subunit beta-1 isoform X4

UniProtKB/TrEMBL

B7Z435