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Aliases for KCNA5 Gene

Aliases for KCNA5 Gene

  • Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 5 2 3
  • Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 5 2 3
  • Voltage-Gated Potassium Channel Subunit Kv1.5 3 4
  • Voltage-Gated Potassium Channel HK2 3 4
  • HPCN1 3 4
  • Voltage-Gated Potassium Channel Protein Kv1.5 3
  • Insulinoma And Islet Potassium Channel 3
  • Cardiac Potassium Channel 3
  • Potassium Channel 1 3
  • ATFB7 3
  • KV1.5 3
  • HCK1 3
  • PCN1 3
  • HK2 3

External Ids for KCNA5 Gene

Previous GeneCards Identifiers for KCNA5 Gene

  • GC12P004890
  • GC12P005045
  • GC12P005023
  • GC12P005153

Summaries for KCNA5 Gene

Entrez Gene Summary for KCNA5 Gene

  • Potassium channels represent the most complex class of voltage-gated ino 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 contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]

GeneCards Summary for KCNA5 Gene

KCNA5 (Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 5) is a Protein Coding gene. Diseases associated with KCNA5 include kcna5-related familial atrial fibrillation and atrial fibrillation, familial, 7. Among its related pathways are Central carbon metabolism in cancer and Metabolism. GO annotations related to this gene include protein kinase binding and ion channel activity. An important paralog of this gene is KCNA10.

UniProtKB/Swiss-Prot for KCNA5 Gene

  • Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12130714). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (PubMed:12130714). Homotetrameric channels display rapid activation and slow inactivation (PubMed:8505626, PubMed:12130714). May play a role in regulating the secretion of insulin in normal pancreatic islets. Isoform 2 exhibits a voltage-dependent recovery from inactivation and an excessive cumulative inactivation (PubMed:11524461).

Tocris Summary for KCNA5 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 KCNA5 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNA5 Gene

Genomics for KCNA5 Gene

Regulatory Elements for KCNA5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCNA5 Gene

Chromosome:
12
Start:
5,043,919 bp from pter
End:
5,046,788 bp from pter
Size:
2,870 bases
Orientation:
Plus strand

Genomic View for KCNA5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNA5 Gene

Proteins for KCNA5 Gene

  • Protein details for KCNA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22460-KCNA5_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily A member 5
    Protein Accession:
    P22460
    Secondary Accessions:
    • Q4KKT8
    • Q4VAJ1
    • Q4VAJ2
    • Q9UDA4

    Protein attributes for KCNA5 Gene

    Size:
    613 amino acids
    Molecular mass:
    67228 Da
    Quaternary structure:
    • Homotetramer and heterotetramer of potassium channel proteins. Interacts with DLG1, which enhances channel currents. Forms a ternary complex with DLG1 and CAV3 (By similarity). Interacts with KCNAB1 (PubMed:12130714). Interacts with UBE2I (PubMed:17261810).
    SequenceCaution:
    • Sequence=AAA60146.1; Type=Frameshift; Positions=579; Evidence={ECO:0000305};

    Alternative splice isoforms for KCNA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNA5 Gene

Proteomics data for KCNA5 Gene at MOPED

Post-translational modifications for KCNA5 Gene

  • Sumoylated on Lys-221, and Lys-536, preferentially with SUMO3. Sumoylation regulates the voltage sensitivity of the channel.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNA5 Gene

Domains & Families for KCNA5 Gene

Gene Families for KCNA5 Gene

Suggested Antigen Peptide Sequences for KCNA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22460

UniProtKB/Swiss-Prot:

KCNA5_HUMAN :
  • The amino terminus may be important in determining the rate of inactivation of the channel while the C-terminal PDZ-binding motif may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments
  • Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.5/KCNA5 sub-subfamily.
Domain:
  • The amino terminus may be important in determining the rate of inactivation of the channel while the C-terminal PDZ-binding motif may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.
Family:
  • Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.5/KCNA5 sub-subfamily.
genes like me logo Genes that share domains with KCNA5: view

Function for KCNA5 Gene

Molecular function for KCNA5 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila shaker-related subfamily,member 5 (mouse Kv1.5 homolog)
UniProtKB/Swiss-Prot Function:
Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12130714). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (PubMed:12130714). Homotetrameric channels display rapid activation and slow inactivation (PubMed:8505626, PubMed:12130714). May play a role in regulating the secretion of insulin in normal pancreatic islets. Isoform 2 exhibits a voltage-dependent recovery from inactivation and an excessive cumulative inactivation (PubMed:11524461).

Gene Ontology (GO) - Molecular Function for KCNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005216 ion channel activity --
GO:0005249 voltage-gated potassium channel activity --
GO:0005251 delayed rectifier potassium channel activity IMP 19343045
GO:0005515 protein binding IPI 10812072
genes like me logo Genes that share ontologies with KCNA5: view
genes like me logo Genes that share phenotypes with KCNA5: view

Animal Models for KCNA5 Gene

MGI Knock Outs for KCNA5:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNA5 Gene

Localization for KCNA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNA5 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNA5 Gene COMPARTMENTS Subcellular localization image for KCNA5 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
cytosol 2
endoplasmic reticulum 2
cytoskeleton 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KCNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IDA 16780588
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 12130714
genes like me logo Genes that share ontologies with KCNA5: view

Pathways & Interactions for KCNA5 Gene

genes like me logo Genes that share pathways with KCNA5: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for KCNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006811 ion transport --
GO:0006813 potassium ion transport IDA 8576199
GO:0007219 Notch signaling pathway IEA --
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with KCNA5: view

No data available for SIGNOR curated interactions for KCNA5 Gene

Drugs & Compounds for KCNA5 Gene

(19) Drugs for KCNA5 Gene - From: IUPHAR, DGIdb, Tocris, NovoSeek, DrugBank, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bupivacaine Approved, Investigational Pharma Pore Blocker, blocker 853
Flecainide Approved, Withdrawn Pharma Pore Blocker, blocker 37
Nifedipine Approved Pharma Activator, blocker 104
Propafenone Approved Pharma Pore Blocker, blocker 25
Quinidine Approved Pharma Inhibition, Inhibitor, blocker 41

(6) Additional Compounds for KCNA5 Gene - From: NovoSeek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Kaliotoxin
145199-73-1
L-364,373
103342-82-1
PD 118057
313674-97-4
Dichloroacetate
H2O2
genes like me logo Genes that share compounds with KCNA5: view

Transcripts for KCNA5 Gene

mRNA/cDNA for KCNA5 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(25) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNA5 Gene

Potassium voltage-gated channel, shaker-related subfamily, member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNA5 Gene

No ASD Table

Relevant External Links for KCNA5 Gene

GeneLoc Exon Structure for
KCNA5
ECgene alternative splicing isoforms for
KCNA5

Expression for KCNA5 Gene

mRNA expression in normal human tissues for KCNA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNA5 Gene

This gene is overexpressed in Artery - Coronary (x9.1), Heart - Atrial Appendage (x8.8), Artery - Tibial (x8.5), and Artery - Aorta (x7.8).

Protein differential expression in normal tissues from HIPED for KCNA5 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNA5 Gene



SOURCE GeneReport for Unigene cluster for KCNA5 Gene Hs.150208

mRNA Expression by UniProt/SwissProt for KCNA5 Gene

P22460-KCNA5_HUMAN
Tissue specificity: Pancreatic islets and insulinoma
genes like me logo Genes that share expression patterns with KCNA5: view

Protein tissue co-expression partners for KCNA5 Gene

Primer Products

In Situ Assay Products

Orthologs for KCNA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNA5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNA5 35
  • 87.44 (n)
  • 88.11 (a)
KCNA5 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNA5 35
  • 90.08 (n)
  • 89.97 (a)
KCNA5 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcna5 35
  • 84.28 (n)
  • 88 (a)
Kcna5 16
Kcna5 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNA5 35
  • 99.39 (n)
  • 99.67 (a)
KCNA5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcna5 35
  • 83.95 (n)
  • 88.09 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNA5 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KCNA5 35
  • 70.8 (n)
  • 71.94 (a)
KCNA5 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNA5 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcna5 35
  • 71.6 (n)
  • 80.9 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100004160 35
  • 73.1 (n)
  • 78.07 (a)
CABZ01083827.1 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sh 37
  • 69 (a)
Sh 36
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y55F3C.3 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
ManyToMany
-- 36
  • 58 (a)
ManyToMany
Species with no ortholog for KCNA5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNA5 Gene

ENSEMBL:
Gene Tree for KCNA5 (if available)
TreeFam:
Gene Tree for KCNA5 (if available)

Paralogs for KCNA5 Gene

(12) SIMAP similar genes for KCNA5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNA5: view

Variants for KCNA5 Gene

Sequence variations from dbSNP and Humsavar for KCNA5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1056461 -- 5,044,050(+) GCCGA(C/G)GCTGG utr-variant-5-prime
rs1056462 -- 5,044,531(+) TCCGG(C/G)CTGCG synonymous-codon, reference
rs1056463 -- 5,044,560(+) CACCC(A/T)GGCGC missense, reference
rs1056464 - 5,044,829(+) CCCTG(A/C/T)CCCGC missense, reference
rs1056466 -- 5,046,393(+) TAGGG(C/G)AAAAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KCNA5 Gene

Variant ID Type Subtype PubMed ID
nsv898626 CNV Loss 21882294
nsv517406 CNV Loss 19592680

Variation tolerance for KCNA5 Gene

Residual Variation Intolerance Score: 33.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.40; 54.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNA5 Gene

HapMap Linkage Disequilibrium report
KCNA5
Human Gene Mutation Database (HGMD)
KCNA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNA5 Gene

Disorders for KCNA5 Gene

MalaCards: The human disease database

(10) MalaCards diseases for KCNA5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
kcna5-related familial atrial fibrillation
  • atrial fibrillation, familial, 7
atrial fibrillation, familial, 7
  • atfb7
tabes dorsalis
  • tabes dorsalis - neurosyphilis
familial atrial fibrillation
  • atrial fibrillation, familial, 1
tertiary neurosyphilis
  • late neurosyphilis
- elite association
Search KCNA5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNA5_HUMAN
  • Atrial fibrillation, familial, 7 (ATFB7) [MIM:612240]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:16772329}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNA5

Genetic Association Database (GAD)
KCNA5
Human Genome Epidemiology (HuGE) Navigator
KCNA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNA5
genes like me logo Genes that share disorders with KCNA5: view

No data available for Genatlas for KCNA5 Gene

Publications for KCNA5 Gene

  1. Tetramerization domain mutations in KCNA5 affect channel kinetics and cause abnormal trafficking patterns. (PMID: 20018952) Burg E.D. … Yuan J.X. (Am. J. Physiol., Cell Physiol. 2010) 23 67
  2. Dehydroepiandrosterone: A new treatment for vascular remodeling diseases including pulmonary arterial hypertension. (PMID: 20206649) Dumas de la Roque E. … Bonnet S. (Pharmacol. Ther. 2010) 23 67
  3. Regulation of renal outer medullary potassium channel and renal K(+) excretion by Klotho. (PMID: 19349416) Cha S.K. … Huang C.L. (Mol. Pharmacol. 2009) 23 67
  4. Hypoxia selectively inhibits KCNA5 channels in pulmonary artery smooth muscle cells. (PMID: 19845612) Firth A.L. … Yuan J.X. (Ann. N. Y. Acad. Sci. 2009) 23 67
  5. Characterization of human cardiac Kv1.5 inhibition by the novel atrial-selective antiarrhythmic compound AVE1231. (PMID: 18427281) Ehrlich J.R. … GAPgelein H. (J. Cardiovasc. Pharmacol. 2008) 23 67

Products for KCNA5 Gene

Sources for KCNA5 Gene

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