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

Summary

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; AllianceGenome:HGNC:6224
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: mouse all
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Genomic context

Location:: 12p13.32

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (5043879..5046788)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (5050280..5053156)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (5153045..5155954)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Computational Studies Show How the H463R Mutation Turns hKv1.5 into an Inactivation State.
Title: Computational Studies Show How the H463R Mutation Turns hKv1.5 into an Inactivation State.
Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension.
Title: Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension.
Selective expression of KCNA5 and KCNB1 genes in gastric and colorectal carcinoma.
Title: Selective expression of KCNA5 and KCNB1 genes in gastric and colorectal carcinoma.
KV1.5-KVbeta1.3 Recycling Is PKC-Dependent.
Title: K(V)1.5-K(V)β1.3 Recycling Is PKC-Dependent.
Mechanical stretch increases Kv1.5 current through an interaction between the S1-S2 linker and N-terminus of the channel.
Title: Mechanical stretch increases Kv1.5 current through an interaction between the S1-S2 linker and N-terminus of the channel.
MiR-3940-5p promotes granulosa cell proliferation through targeting KCNA5 in polycystic ovarian syndrome.
Title: MiR-3940-5p promotes granulosa cell proliferation through targeting KCNA5 in polycystic ovarian syndrome.
Challenges Faced with Small Molecular Modulators of Potassium Current Channel Isoform Kv1.5.
Title: Challenges Faced with Small Molecular Modulators of Potassium Current Channel Isoform Kv1.5.
these results suggest that Notch activation enhances CaSR-mediated increases in [Ca(2+)]cyt by enhancing store-operated Ca(2+) entry and inhibits KCNA5/KV1.5 and KCNA2/KV1.2, ultimately leading to voltage-activated Ca(2+) entry.
Title: Notch enhances Ca(2+) entry by activating calcium-sensing receptors and inhibiting voltage-gated K(+) channels.
Kv1.5 downregulation upon PM leaves Kv1.3 as the dominant Kv1 channel expressed in dedifferentiated cells. We demonstrated that the inhibition of Kv1.3 channel function with selective blockers or by preventing Kv1.5 downregulation can represent an effective, novel strategy for the prevention of intimal hyperplasia and restenosis of the human vessels used for coronary angioplasty procedures.
Title: Myocardin-Dependent Kv1.5 Channel Expression Prevents Phenotypic Modulation of Human Vessels in Organ Culture.
Verapamil acts as an open-channel blocker of hKv1.5 channel, presumably due to direct binding to specific amino acids within pore region of hKv1.5 channel, such as Thr479, Thr480, Val505, Ile508, Val512 and Val516.
Title: Identification of Verapamil Binding Sites Within Human Kv1.5 Channel Using Mutagenesis and Docking Simulation.

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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

Associated conditions

Description	Tests
Atrial fibrillation, familial, 7 MedGen: C2677106 OMIM: 612240 GeneReviews: Not available	Compare labs

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

GDB:214843 (e-PCR)
- UniSTS:156194

Kcna5 (e-PCR), detects polymorphism
- UniSTS:463210

WI-7206 (e-PCR)
- UniSTS:10875

KCNA5_871 (e-PCR)
- UniSTS:277406

GDB:384722 (e-PCR)
- UniSTS:157087

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-actinin binding	IPI Inferred from Physical Interaction more info	PubMed
enables delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables delayed rectifier potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables outward rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables outward rectifier potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info
enables voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated potassium channel activity involved in SA node cell action potential repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
enables 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
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in atrial cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane hyperpolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during SA node cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during SA node cell action potential	TAS Traceable Author Statement more info	PubMed
involved_in membrane repolarization during atrial cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during bundle of His cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of myoblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in potassium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion export across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of atrial cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of insulin secretion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of potassium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in response to hyperoxia	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	HDA more info	PubMed
located_in Z disc	IEA Inferred from Electronic Annotation more info
colocalizes_with caveola	TAS Traceable Author Statement more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in intercalated disc	IBA Inferred from Biological aspect of Ancestor more info
located_in intercalated disc	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular canaliculus	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

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.