KCNA5 potassium voltage-gated channel, shaker-related subfamily, member 5 [Homo sapiens] - Gene

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Summary

Official Symbol: KCNA5provided by HGNC
Official Full Name: potassium voltage-gated channel, shaker-related subfamily, member 5provided by HGNC
Primary source: HGNC:6224
See related: Ensembl:ENSG00000130037; HPRD:08888; 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; MGC117058; MGC117059
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]

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Genomic context

Location :: 12p13

Sequence :: Chromosome: 12; NC_000012.11 (5153085..5155949)

See KCNA5 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

expression of Kv1.5 and Kv1.3 increased in skeletal muscle tumorigenesis in a close relationship with malignancy.
Title: Differential expression of Kv1.3 and Kv1.5 voltage-dependent K+ channels in human skeletal muscle sarcomas.
The experiments disclose a completely novel function of beta-catenin, i.e. the regulation of Kv1.5 channel activity.
Title: Activation of voltage gated K⁺ channel Kv1.5 by β-catenin.
In order to substantiate a possible relation between K(v1.5) and FHL1C, a pull-down assay was performed.
Title: Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).
Our data implicate abnormal atrial repolarization control due to variable TK signaling as a mechanism in familial AF and thereby suggest a role for modulation of this pathway in AF and its treatment.
Title: Novel KCNA5 mutation implicates tyrosine kinase signaling in human atrial fibrillation.
A comparison of the expression patterns of Kv1.3 and Kv1.5 in the human fetus.
Title: Voltage-dependent potassium channels Kv1.3 and Kv1.5 in human fetus.
In Kv1.5 H+ and Ni2+ differentially enhance a slow inactivation process that involves at least two inactivated states and that resting inactivation is probably a close variant of slow inactivation.
Title: Kinetic analysis of the effects of H+ or Ni2+ on Kv1.5 current shows that both ions enhance slow inactivation and induce resting inactivation.
an association was found solely for Pulmonary arterial hypertension associated with Systemic Sclerosis in KCNA5 ((potassium voltage-gated channel subfamily A member 5) rs10744676 variants
Title: Association of a KCNA5 gene polymorphism with systemic sclerosis-associated pulmonary arterial hypertension in the European Caucasian population.
Kv1.5 channel is blocked by diphenyl phosphine oxide-1
Title: Molecular determinants of Kv1.5 channel block by diphenyl phosphine oxide-1.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
KCNA5 T527M mutation exerted a predominant negative effect on potassium currents but no effect on the subcellular location of the encoded ion channel.
Title: [Identification and functional analysis of a KCNA5 mutation responsible for idiopathic atrial fibrillation].

Submit: New GeneRIF Correction See all (58)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Atrial fibrillation, familial, 7

MIM: 612240

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Products	Interactant	Other Gene	Source	Pubs	Description
P22460	P35609	ACTN2	HPRD	PubMed
P22460	Q12959	DLG1	HPRD	PubMed
P22460	P78352	DLG4	HPRD	PubMed
P22460	P16389	KCNA2	HPRD	PubMed
P22460	P23469	PTPRE	HPRD	PubMed
P22460	P12931	SRC	HPRD	PubMed
BioGRID:109943	BioGRID:106603	ACTN2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:109943	BioGRID:108083	DLG1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109943	BioGRID:108086	DLG4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:109943	BioGRID:109940	KCNA2	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
delayed rectifier potassium channel activity	TAS Traceable Author Statement more info	PubMed
outward rectifier potassium channel activity	IEA Inferred from Electronic Annotation more info
potassium channel inhibitor activity	IEA Inferred from Electronic Annotation more info
receptor binding	IEA Inferred from Electronic Annotation more info
voltage-gated ion channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
ion transport	IEA Inferred from Electronic Annotation more info
negative regulation of potassium ion transport	IEA Inferred from Electronic Annotation more info
potassium ion homeostasis	IEA Inferred from Electronic Annotation more info
potassium ion transport	TAS Traceable Author Statement more info	PubMed
protein oligomerization	IEA Inferred from Electronic Annotation more info
reduction of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
regulation of membrane potential	IEA Inferred from Electronic Annotation more info
response to hypoxia	IEA Inferred from Electronic Annotation more info
synaptic transmission	TAS Traceable Author Statement more info
transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
voltage-gated potassium channel complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: potassium voltage-gated channel subfamily A member 5

Names: potassium voltage-gated channel subfamily A member 5; potassium channel 1; cardiac potassium channel; voltage-gated potassium channel HK2; insulinoma and islet potassium channel; voltage-gated potassium channel protein Kv1.5; voltage-gated potassium channel subunit Kv1.5

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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

NG_012198.1 RefSeqGene

Range

5001..7870

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC005906, BC099665, BM663787, BM692565

Consensus CDS

CCDS8536.1

UniProtKB/Swiss-Prot

P22460

Related

ENSP00000252321, OTTHUMP00000238372, ENST00000252321, OTTHUMT00000398925

Conserved Domains (3) summary

pfam00520
Location:326 – 515
Blast Score: 255

Ion_trans; Ion transport protein

cl02518
Location:122 – 213
Blast Score: 357

BTB; BTB/POZ domain

cl11596
Location:449 – 510
Blast Score: 147

Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

5153085..5155949

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

5009439..5012303

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005906.1 (106565..109429)	None
genomic	CH471116.2	EAW88830.1
mRNA	BC096357.3	AAH96357.1
mRNA	BC096358.3	AAH96358.3
mRNA	BC099665.3	AAH99665.3
mRNA	BC099666.3	AAH99666.3
mRNA	BM663787.1	None
mRNA	BM692565.1	None
mRNA	M55513.1	AAA36422.1
mRNA	M60451.1	AAA61276.1
mRNA	M83254.1	AAA60146.1