KCNA3 potassium voltage-gated channel subfamily A member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNA3provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily A member 3provided by HGNC
Primary source: HGNC:HGNC:6221
See related: Ensembl:ENSG00000177272 MIM:176263; AllianceGenome:HGNC:6221
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: MK3; HGK5; HLK3; PCN3; HPCN3; KV1.3; HUKIII
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 belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lymph node (RPKM 7.8), appendix (RPKM 6.0) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (110653560..110674940, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (110668304..110689683, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (111196182..111217562, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effect of the rs2821557 Polymorphism of the Human Kv1.3 Gene on Olfactory Function and BMI in Different Age Groups.
Title: Effect of the rs2821557 Polymorphism of the Human Kv1.3 Gene on Olfactory Function and BMI in Different Age Groups.
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Title: De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Olfactory Sensitivity Is Associated with Body Mass Index and Polymorphism in the Voltage-Gated Potassium Channels Kv1.3.
Title: Olfactory Sensitivity Is Associated with Body Mass Index and Polymorphism in the Voltage-Gated Potassium Channels Kv1.3.
Structures of the T cell potassium channel Kv1.3 with immunoglobulin modulators.
Title: Structures of the T cell potassium channel Kv1.3 with immunoglobulin modulators.
Role of C-Terminal Domain and Membrane Potential in the Mobility of Kv1.3 Channels in Immune Synapse Forming T Cells.
Title: Role of C-Terminal Domain and Membrane Potential in the Mobility of Kv1.3 Channels in Immune Synapse Forming T Cells.
Rearrangement of a unique Kv1.3 selectivity filter conformation upon binding of a drug.
Title: Rearrangement of a unique Kv1.3 selectivity filter conformation upon binding of a drug.
The Kv1.3 K(+) channel in the immune system and its ""precision pharmacology"" using peptide toxins.
Title: The Kv1.3 K(+) channel in the immune system and its "precision pharmacology" using peptide toxins.
A common genetic variant rs2821557 in KCNA3 is linked to the severity of multiple sclerosis.
Title: A common genetic variant rs2821557 in KCNA3 is linked to the severity of multiple sclerosis.
Kv1.3 voltage-gated potassium channels link cellular respiration to proliferation through a non-conducting mechanism.
Title: Kv1.3 voltage-gated potassium channels link cellular respiration to proliferation through a non-conducting mechanism.
Voltage-dependent conformational changes of Kv1.3 channels activate cell proliferation.
Title: Voltage-dependent conformational changes of Kv1.3 channels activate cell proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (106)

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

EBI GWAS Catalog

Description
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120-mediated enhancement of potassium voltage-gated channel KV1.3 protein is required for microglia neurotoxicity through the p38 MAPK signaling pathway	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3253 (e-PCR)
- UniSTS:60186

SHGC-75313 (e-PCR)
- UniSTS:8991

D1S3456 (e-PCR)
- UniSTS:154711

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 outward rectifier potassium channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated monoatomic ion channel activity	TAS Traceable Author Statement more info	PubMed
NOT enables voltage-gated potassium channel activity	IDA Inferred from Direct Assay 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 corpus callosum development	IEA Inferred from Electronic Annotation more info
involved_in optic nerve development	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	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in calyx of Held	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	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	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation 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 3

Names: RP11-284N8.3; potassium channel 3; potassium channel, voltage gated shaker related subfamily A, member 3; potassium voltage-gated channel, shaker-related subfamily, member 3; type n potassium channel; voltage-gated K(+) channel HuKIII; voltage-gated potassium channel protein Kv1.3; voltage-gated potassium channel subunit Kv1.3

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_002232.5 → NP_002223.3 potassium voltage-gated channel subfamily A member 3

See identical proteins and their annotated locations for NP_002223.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AL365361, BC035059, CA438434

Consensus CDS

CCDS828.2

UniProtKB/Swiss-Prot

B2RA23, P22001, Q5VWN2, Q6P2D3

UniProtKB/TrEMBL

A0A8V8TMD4

Related

ENSP00000358784.2, ENST00000369769.4

Conserved Domains (2) summary

cl38908
Location:104 → 230

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

pfam00520
Location:233 → 490

Ion_trans; Ion transport protein

RNA

NR_109845.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate exon structure compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AL365361, HY035404
NR_109846.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate exon structure compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AL365361, BM995500, DB086905