Format

Send to:

Choose Destination

KCNA5 potassium voltage-gated channel subfamily A member 5 [ Homo sapiens (human) ]

Gene ID: 3741, updated on 3-Jun-2018
Official Symbol
KCNA5provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily A member 5provided by HGNC
Primary source
HGNC:HGNC:6224
See related
Ensembl:ENSG00000130037 MIM:176267; Vega:OTTHUMG00000168232
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
HK2; HCK1; PCN1; ATFB7; HPCN1; KV1.5
Summary
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]
Orthologs
See KCNA5 in Genome Data Viewer
Location:
12p13.32
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (5043919..5046788)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (5153085..5155954)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507560 Neighboring gene eukaryotic translation initiation factor 3 subunit F pseudogene Neighboring gene 12p13 distal LINE-mediated recombination region Neighboring gene uncharacterized LOC105369617 Neighboring gene uncharacterized LOC105369616

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC117058, MGC117059

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-actinin binding IPI
Inferred from Physical Interaction
more info
PubMed 
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
delayed rectifier potassium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
outward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
outward rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
outward rectifier potassium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium channel inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel activity involved in SA node cell action potential repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane hyperpolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane repolarization during SA node cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane repolarization during SA node cell action potential TAS
Traceable Author Statement
more info
PubMed 
membrane repolarization during atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane repolarization during bundle of His cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of myoblast proliferation IEA
Inferred from Electronic Annotation
more info
 
potassium ion export IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion export IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion export IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of atrial cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of insulin secretion TAS
Traceable Author Statement
more info
PubMed 
regulation of membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
regulation of potassium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
response to hyperoxia IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to organic substance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus HDA PubMed 
Z disc IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with caveola TAS
Traceable Author Statement
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
intracellular canaliculus IEA
Inferred from Electronic Annotation
more info
 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
potassium voltage-gated channel subfamily A member 5
Names
cardiac potassium channel
insulinoma and islet potassium channel
potassium channel 1
potassium channel, voltage gated shaker related subfamily A, member 5
potassium voltage-gated channel, shaker-related subfamily, member 5
voltage-gated potassium channel HK2
voltage-gated potassium channel protein Kv1.5
voltage-gated potassium channel subunit Kv1.5

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_012198.1 RefSeqGene

    Range
    5001..7870
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002234.3NP_002225.2  potassium voltage-gated channel subfamily A member 5

    See identical proteins and their annotated locations for NP_002225.2

    Status: REVIEWED

    Source sequence(s)
    AC005906, BC099665, BM663787, BM692565
    Consensus CDS
    CCDS8536.1
    UniProtKB/Swiss-Prot
    P22460
    Related
    ENSP00000252321.3, OTTHUMP00000238372, ENST00000252321.4, OTTHUMT00000398925
    Conserved Domains (2) summary
    pfam00520
    Location:249526
    Ion_trans; Ion transport protein
    pfam02214
    Location:122213
    BTB_2; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    5043919..5046788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center