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Aliases for KCNAB1 Gene

Aliases for KCNAB1 Gene

  • Potassium Voltage-Gated Channel Subfamily A Member Regulatory Beta Subunit 1 2 3 5
  • Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Beta Member 1 2 3
  • K(+) Channel Subunit Beta-1 3 4
  • K+ Channel Beta1a Chain 2 3
  • KV-BETA-1 3 4
  • KCNA1B 3 4
  • Potassium Channel, Voltage Gated Subfamily A Regulatory Beta Subunit 1 3
  • Voltage-Gated Potassium Channel Subunit Beta-1 3
  • Potassium Channel Shaker Chain Beta 1a 3
  • Potassium Channel Beta3 Subunit 3
  • Potassium Channel Beta 3 Chain 3
  • EC 1.1.1.- 4
  • HKvBeta3 3
  • AKR6A3 3
  • Kvb1.3 3
  • HKvb3 3

External Ids for KCNAB1 Gene

Previous GeneCards Identifiers for KCNAB1 Gene

  • GC03P152874
  • GC03P156956
  • GC03P157119
  • GC03P157159
  • GC03P157321
  • GC03P155755
  • GC03P153234

Summaries for KCNAB1 Gene

Entrez Gene Summary for KCNAB1 Gene

  • 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]

GeneCards Summary for KCNAB1 Gene

KCNAB1 (Potassium Voltage-Gated Channel Subfamily A Member Regulatory Beta Subunit 1) is a Protein Coding gene. Diseases associated with KCNAB1 include Episodic Ataxia and Episodic Ataxia/Myokymia Syndrome. Among its related pathways are Potassium Channels and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include voltage-gated potassium channel activity and NADPH binding. An important paralog of this gene is KCNAB2.

UniProtKB/Swiss-Prot for KCNAB1 Gene

  • Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7499366, PubMed:7603988, PubMed:17156368,PubMed:17540341, PubMed:19713757). Modulates action potentials via its effect on the pore-forming alpha subunits (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members (PubMed:9763623). Promotes the closure of KCNA1, KCNA2 and KCNA5 channels (PubMed:7499366, PubMed:7890032, PubMed:7603988, PubMed:7649300, PubMed:8938711, PubMed:12077175, PubMed:12130714, PubMed:15361858, PubMed:17540341, PubMed:19713757). Accelerates KCNA4 channel closure (PubMed:7890032, PubMed:7649300, PubMed:7890764, PubMed:9763623). Accelerates the closure of heteromeric channels formed by KCNA1 and KCNA4 (PubMed:17156368). Accelerates the closure of heteromeric channels formed by KCNA2, KCNA5 and KCNA6 (By similarity). Isoform KvB1.2 has no effect on KCNA1, KCNA2 or KCNB1 (PubMed:7890032, PubMed:7890764). Enhances KCNB1 and KCNB2 channel activity (By similarity). Binds NADPH; this is required for efficient down-regulation of potassium channel activity (PubMed:17540341). Has NADPH-dependent aldoketoreductase activity (By similarity). Oxidation of the bound NADPH strongly decreases N-type inactivation of potassium channel activity (By similarity).

Tocris Summary for KCNAB1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNAB1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNAB1 Gene

Genomics for KCNAB1 Gene

Regulatory Elements for KCNAB1 Gene

Enhancers for KCNAB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around KCNAB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNAB1 Gene

Chromosome:
3
Start:
156,037,701 bp from pter
End:
156,539,138 bp from pter
Size:
501,438 bases
Orientation:
Plus strand

Genomic View for KCNAB1 Gene

Genes around KCNAB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNAB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNAB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNAB1 Gene

Proteins for KCNAB1 Gene

  • Protein details for KCNAB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14722-KCAB1_HUMAN
    Recommended name:
    Voltage-gated potassium channel subunit beta-1
    Protein Accession:
    Q14722
    Secondary Accessions:
    • A8K9H8
    • A8KAD4
    • B3KPZ4
    • Q13031
    • Q13302
    • Q16547
    • Q6PI60
    • Q99869

    Protein attributes for KCNAB1 Gene

    Size:
    419 amino acids
    Molecular mass:
    46563 Da
    Quaternary structure:
    • Homotetramer (By similarity). Interaction with tetrameric potassium channel alpha subunits gives rise to a heterooctamer (Probable). Identified in potassium channel complexes containing KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNAB1 and KCNAB2 (By similarity). Interacts with KCNA1 (By similarity). Interacts with the dimer formed by GNB1 and GNG2; this enhances KCNA1 binding (By similarity). Interacts with KCNA4 (PubMed:9763623). Interacts with KCNA5 (PubMed:12130714). Interacts with KCNB2 (By similarity). Interacts with SQSTM1 (By similarity). Part of a complex containing KCNA1, KCNA4 and LGI1; interaction with LGI1 inhibits down-regulation of KCNA1 channel activity (By similarity).

    Alternative splice isoforms for KCNAB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNAB1 Gene

Post-translational modifications for KCNAB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCNAB1 Gene

Domains & Families for KCNAB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14722

UniProtKB/Swiss-Prot:

KCAB1_HUMAN :
  • The N-terminal domain of the beta subunit mediates closure of delayed rectifier potassium channels by physically obstructing the pore.
  • Belongs to the shaker potassium channel beta subunit family.
Domain:
  • The N-terminal domain of the beta subunit mediates closure of delayed rectifier potassium channels by physically obstructing the pore.
Family:
  • Belongs to the shaker potassium channel beta subunit family.
genes like me logo Genes that share domains with KCNAB1: view

Function for KCNAB1 Gene

Molecular function for KCNAB1 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila shaker-related subfamily,expressed in heart,auxiliary beta 1cytoplasmic peptide,,co assembly in the endoplasmic reticulum with the channel forming alpha subunits,modulating the amplitude of K+ currents
UniProtKB/Swiss-Prot Function:
Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7499366, PubMed:7603988, PubMed:17156368,PubMed:17540341, PubMed:19713757). Modulates action potentials via its effect on the pore-forming alpha subunits (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members (PubMed:9763623). Promotes the closure of KCNA1, KCNA2 and KCNA5 channels (PubMed:7499366, PubMed:7890032, PubMed:7603988, PubMed:7649300, PubMed:8938711, PubMed:12077175, PubMed:12130714, PubMed:15361858, PubMed:17540341, PubMed:19713757). Accelerates KCNA4 channel closure (PubMed:7890032, PubMed:7649300, PubMed:7890764, PubMed:9763623). Accelerates the closure of heteromeric channels formed by KCNA1 and KCNA4 (PubMed:17156368). Accelerates the closure of heteromeric channels formed by KCNA2, KCNA5 and KCNA6 (By similarity). Isoform KvB1.2 has no effect on KCNA1, KCNA2 or KCNB1 (PubMed:7890032, PubMed:7890764). Enhances KCNB1 and KCNB2 channel activity (By similarity). Binds NADPH; this is required for efficient down-regulation of potassium channel activity (PubMed:17540341). Has NADPH-dependent aldoketoreductase activity (By similarity). Oxidation of the bound NADPH strongly decreases N-type inactivation of potassium channel activity (By similarity).

Enzyme Numbers (IUBMB) for KCNAB1 Gene

Gene Ontology (GO) - Molecular Function for KCNAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004033 aldo-keto reductase (NADP) activity ISS --
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0005515 protein binding IEA --
GO:0015459 potassium channel regulator activity IDA 7890032
GO:0044325 ion channel binding IEA --
genes like me logo Genes that share ontologies with KCNAB1: view

Phenotypes for KCNAB1 Gene

genes like me logo Genes that share phenotypes with KCNAB1: view

Animal Models for KCNAB1 Gene

MGI Knock Outs for KCNAB1:

Animal Model Products

CRISPR Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNAB1 Gene

Localization for KCNAB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNAB1 Gene

Cytoplasm. Membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Recruited to the cytoplasmic side of the cell membrane via its interaction with pore-forming potassium channel alpha subunits. {ECO:0000269 PubMed:17540341}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNAB1 Gene COMPARTMENTS Subcellular localization image for KCNAB1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KCNAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA 17540341
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane IEA --
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with KCNAB1: view

Pathways & Interactions for KCNAB1 Gene

genes like me logo Genes that share pathways with KCNAB1: view

Pathways by source for KCNAB1 Gene

1 BioSystems pathway for KCNAB1 Gene
1 Qiagen pathway for KCNAB1 Gene

Gene Ontology (GO) - Biological Process for KCNAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport TAS 7499366
GO:0007420 brain development IEA --
GO:0007507 heart development IEA --
GO:0007519 skeletal muscle tissue development IEA --
GO:0007611 learning or memory IEA --
genes like me logo Genes that share ontologies with KCNAB1: view

No data available for SIGNOR curated interactions for KCNAB1 Gene

Drugs & Compounds for KCNAB1 Gene

(5) Drugs for KCNAB1 Gene - From: Tocris and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker potassium channel-blocking agent, Non-selective KV channel blocker 67
E-4031 dihydrochloride Pharma KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 0
Linopirdine dihydrochloride Pharma KV7 (KCNQ) channel blocker 0
XE 991 dihydrochloride Pharma Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 0

(1) Additional Compounds for KCNAB1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNAB1 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker 504-24-5
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 113559-13-0
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
genes like me logo Genes that share compounds with KCNAB1: view

Transcripts for KCNAB1 Gene

Unigene Clusters for KCNAB1 Gene

Potassium voltage-gated channel, shaker-related subfamily, beta member 1:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNAB1 Gene

No ASD Table

Relevant External Links for KCNAB1 Gene

GeneLoc Exon Structure for
KCNAB1
ECgene alternative splicing isoforms for
KCNAB1

Expression for KCNAB1 Gene

mRNA expression in normal human tissues for KCNAB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNAB1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x8.4), Brain - Caudate (basal ganglia) (x7.1), Artery - Tibial (x7.0), and Brain - Nucleus accumbens (basal ganglia) (x5.4).

Protein differential expression in normal tissues from HIPED for KCNAB1 Gene

This gene is overexpressed in Tlymphocyte (61.6) and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNAB1 Gene



Protein tissue co-expression partners for KCNAB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNAB1 Gene:

KCNAB1

SOURCE GeneReport for Unigene cluster for KCNAB1 Gene:

Hs.654519

mRNA Expression by UniProt/SwissProt for KCNAB1 Gene:

Q14722-KCAB1_HUMAN
Tissue specificity: In brain, expression is most prominent in caudate nucleus, hippocampus and thalamus. Significant expression also detected in amygdala and subthalamic nucleus. Also expressed in both healthy and cardiomyopathic heart. Up to four times more abundant in left ventricle than left atrium.
genes like me logo Genes that share expression patterns with KCNAB1: view

Primer Products

Orthologs for KCNAB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KCNAB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNAB1 34
  • 93.68 (n)
  • 100 (a)
KCNAB1 35
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNAB1 34
  • 92.1 (n)
  • 99 (a)
KCNAB1 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnab1 34
  • 92.52 (n)
  • 99.75 (a)
Kcnab1 16
Kcnab1 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnab1 34
  • 92.52 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNAB1 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
chicken
(Gallus gallus)
Aves KCNAB1 34
  • 82.71 (n)
  • 95.26 (a)
KCNAB1 35
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNAB1 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnab1 34
  • 80.25 (n)
  • 92.25 (a)
Str.4507 34
zebrafish
(Danio rerio)
Actinopterygii kcnab1 34
  • 78.06 (n)
  • 88.94 (a)
kcnab1 35
  • 79 (a)
OneToMany
kcnab1 35
  • 91 (a)
OneToMany
KCNAB1 (2 of 3) 35
  • 80 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Hk 36
  • 46 (a)
Hk 34
  • 54.1 (n)
  • 50.46 (a)
Hk 35
  • 25 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010067 34
  • 55.29 (n)
  • 51.06 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons KAB1 34
  • 52.29 (n)
  • 48.62 (a)
rice
(Oryza sativa)
Liliopsida Os02g0817500 34
  • 53.52 (n)
  • 50.76 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3802 34
bread mold
(Neurospora crassa)
Ascomycetes NCU02887 34
  • 51.57 (n)
  • 47.42 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC965.06 34
  • 51.86 (n)
  • 46.58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 67 (a)
OneToMany
Species where no ortholog for KCNAB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNAB1 Gene

ENSEMBL:
Gene Tree for KCNAB1 (if available)
TreeFam:
Gene Tree for KCNAB1 (if available)

Paralogs for KCNAB1 Gene

Paralogs for KCNAB1 Gene

(2) SIMAP similar genes for KCNAB1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for KCNAB1 Gene

genes like me logo Genes that share paralogs with KCNAB1: view

Variants for KCNAB1 Gene

Sequence variations from dbSNP and Humsavar for KCNAB1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs376279 -- 156,196,453(-) tggaa(A/G)aacat intron-variant
rs861642 -- 156,370,379(-) TATAA(A/G)TGATT intron-variant
rs868286 -- 156,493,425(-) CAAAA(A/G)TACAT intron-variant
rs875580 -- 156,530,363(-) TTGGA(A/G)TATTC intron-variant
rs875581 -- 156,530,338(-) CTCCT(A/G)CTGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNAB1 Gene

Variant ID Type Subtype PubMed ID
dgv1422e212 CNV loss 25503493
dgv2624n106 CNV deletion 24896259
dgv8658n54 CNV loss 21841781
dgv8659n54 CNV loss 21841781
dgv8660n54 CNV loss 21841781
dgv8661n54 CNV loss 21841781
esv1546912 CNV insertion 17803354
esv2125528 CNV deletion 18987734
esv2289616 CNV deletion 18987734
esv2620873 CNV deletion 19546169
esv2662315 CNV deletion 23128226
esv2663886 CNV deletion 23128226
esv2667743 CNV deletion 23128226
esv2726090 CNV deletion 23290073
esv28145 CNV loss 19812545
esv3304061 CNV mobile element insertion 20981092
esv3306801 CNV mobile element insertion 20981092
esv3306886 CNV mobile element insertion 20981092
esv3308607 CNV mobile element insertion 20981092
esv3340756 CNV insertion 20981092
esv3371098 CNV insertion 20981092
esv3406330 CNV insertion 20981092
esv3417557 CNV insertion 20981092
esv3438569 CNV duplication 20981092
esv3562769 CNV deletion 23714750
esv3569070 CNV loss 25503493
esv3598298 CNV loss 21293372
esv3598299 CNV loss 21293372
esv3598301 CNV loss 21293372
esv3598302 CNV loss 21293372
nsv1074635 CNV deletion 25765185
nsv1114441 CNV deletion 24896259
nsv1124875 CNV duplication 24896259
nsv1146247 CNV duplication 26484159
nsv237787 CNV deletion 16902084
nsv4078 CNV insertion 18451855
nsv4079 CNV insertion 18451855
nsv473006 CNV novel sequence insertion 20440878
nsv474481 CNV novel sequence insertion 20440878
nsv476752 CNV novel sequence insertion 20440878
nsv513090 CNV loss 21212237
nsv592085 CNV gain 21841781
nsv592086 CNV loss 21841781
nsv592109 CNV loss 21841781
nsv592115 CNV loss 21841781
nsv822302 CNV loss 20364138
nsv829764 CNV gain 17160897

Variation tolerance for KCNAB1 Gene

Residual Variation Intolerance Score: 51.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNAB1 Gene

Human Gene Mutation Database (HGMD)
KCNAB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNAB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNAB1 Gene

Disorders for KCNAB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KCNAB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
episodic ataxia
  • isaacs syndrome
episodic ataxia/myokymia syndrome
  • episodic ataxia, type 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCNAB1

Genetic Association Database (GAD)
KCNAB1
Human Genome Epidemiology (HuGE) Navigator
KCNAB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNAB1
genes like me logo Genes that share disorders with KCNAB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNAB1 Gene

Publications for KCNAB1 Gene

  1. Structural and functional characterization of human potassium channel subunit beta 1 (KCNA1B). (PMID: 8938711) Leicher T. … Pongs O. (Neuropharmacology 1996) 3 4 22 65
  2. A novel K+ channel beta-subunit (hKv beta 1.3) is produced via alternative mRNA splicing. (PMID: 7499366) England S.K. … Tamkun M.M. (J. Biol. Chem. 1995) 2 3 4 65
  3. Alternative splicing of the human Shaker K+ channel beta 1 gene and functional expression of the beta 2 gene product. (PMID: 7649300) Mccormack K. … Stuehmer W. (FEBS Lett. 1995) 3 4 22 65
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 65

Products for KCNAB1 Gene

Sources for KCNAB1 Gene

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