KCNA10 potassium voltage-gated channel subfamily A member 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNA10provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily A member 10provided by HGNC
Primary source: HGNC:HGNC:6219
See related: Ensembl:ENSG00000143105 MIM:602420; AllianceGenome:HGNC:6219
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: Kcn1; Kv1.8
Summary: 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 contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 1p13.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (110517217..110519175, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (110532257..110534215, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (111059839..111061797, complement)

Chromosome 1 - NC_000001.11 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?

Association of Single Nucleotide Polymorphisms in KCNA10 and SLC13A3 Genes with the Susceptibility to Chronic Kidney Disease of Unknown Etiology in Central Indian Patients.
Title: Association of Single Nucleotide Polymorphisms in KCNA10 and SLC13A3 Genes with the Susceptibility to Chronic Kidney Disease of Unknown Etiology in Central Indian Patients.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
KCNA10 in human proximal tubular cells, glomerular and vascular endothelial cells, and also in vascular smooth muscle cells.
Title: Expression of KCNA10, a voltage-gated K channel, in glomerular endothelium and at the apical membrane of the renal proximal tubule.

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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

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

SHGC-151225 (e-PCR)
- UniSTS:173581

NoName (e-PCR)
- UniSTS:482118

D1S2708 (e-PCR), detects polymorphism
- UniSTS:46156

KCNA10_865 (e-PCR)
- UniSTS:277402

KCNA10_V166 (e-PCR)
- UniSTS:277402

NoName (e-PCR)
- UniSTS:481755

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables intracellularly cyclic nucleotide-activated monoatomic cation channel activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor 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

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: potassium voltage-gated channel subfamily A member 10

Names: cyclic GMP gated potassium channel; potassium channel, voltage gated shaker related subfamily A, member 10; potassium voltage-gated channel, shaker-related subfamily, member 10; voltage-gated potassium channel subunit Kv1.8

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.

mRNA and Protein(s)

NM_005549.2 → NP_005540.1 potassium voltage-gated channel subfamily A member 10

See identical proteins and their annotated locations for NP_005540.1

Status: REVIEWED

Source sequence(s)

AL358215

Consensus CDS

CCDS826.1

UniProtKB/Swiss-Prot

Q16322

Related

ENSP00000358786.2, ENST00000369771.4

Conserved Domains (2) summary

pfam00520
Location:255 → 467

Ion_trans; Ion transport protein

pfam02214
Location:88 → 179

BTB_2; BTB/POZ domain