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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCNA1 Gene

protein-coding GIFtS: 62
GCID: GC12P005019

potassium voltage-gated channel, shaker-related subfamily,...

(Previous symbol: AEMK)

Explore 21 diseases affiliated with
KCNA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 1 (Episodic Ataxia With Myokymia)¹ ²		Voltage-Gated Potassium Channel Subunit Kv1.1² ³
AEMK¹ ² ⁵		EA1² ⁵
HUK1¹ ²		Kv1.1¹
MBK1¹ ²		HBK1²
RBK1¹ ²		KV1.1²
Voltage-Gated K(+) Channel HuKI² ³		MK1²
Voltage-Gated Potassium Channel HBK1² ³		Potassium Voltage-Gated Channel Subfamily A Member 1²

External Ids:	HGNC: 6218¹	Entrez Gene: 3736²	Ensembl: ENSG00000111262⁷	OMIM: 176260⁵	UniProtKB: Q09470³

Export aliases for KCNA1 gene to outside databases

Previous GC identifers: GC12P004758 GC12P004912 GC12P004891 GC12P004892 GC12P004894

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNA1:

This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker

channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the

pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The

N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel

as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is

responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia

(AEMK). (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470

Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed

conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective

channel through which potassium ions may pass in accordance with their electrochemical gradient

summary for KCNA1:

Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the

Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits

contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed

within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNA1 (Kv1.1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009759.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KCNA1 gene promoter:
AP-1 ATF-2 aMEF-2 c-Jun E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNA1 promoter sequence

Search SABiosciences Chromatin IP Primers for KCNA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.32 Ensembl cytogenetic band: 12p13.32 HGNC cytogenetic band: 12p13

KCNA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNA1 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P005019: view genomic region (about GC identifiers)

Start:	5,019,071 bp from pter	End:	5,040,527 bp from pter
Size:	21,457 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470 (See protein sequence)

Recommended Name: Potassium voltage-gated channel subfamily A member 1

Size: 495 amino acids; 56466 Da

Subunit: Heterotetramer of potassium channel proteins. Binds KCNAB2 and PDZ domains of DLG1, DLG2 and DLG4 (By

similarity). Interacts with LGI1 within a complex containing LGI1, KCNA4 and KCNAB1 (By similarity)

Subcellular location: Membrane; Multi-pass membrane protein

Rna editing: Modified_positions=400; Note=Partially edited. RNA editing varies from 17% in the caudate nucleus to 68%

in the spinal cord and to 77% in the medulla

1 PDB 3D structure from and Proteopedia for KCNA1:

2AFL (3D)

Secondary accessions: A6NM83 Q3MIQ9

Explore the universe of human proteins at neXtProt for KCNA1: NX_Q09470

Post-translational modifications:

Palmitoylated on Cys-243; which may be required for membrane targeting¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q09470

KCNA1 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_000208.2

ENSEMBL proteins:

ENSP00000371985

Reactome Protein details: Q09470
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	Uscn Proteins for KCNA1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0008076	voltage-gated potassium channel complex	IEA	--
GO:0016324	apical plasma membrane	IEA	--
GO:0030425	dendrite	IEA	--
GO:0043025	neuronal cell body	IEA	--

KCNA1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for KCNA1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KCNA1 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR004048 K_chnl_volt-dep_Kv1.1

IPR005821 Ion_trans_dom

IPR000210 BTB/POZ-like

IPR011333 BTB/POZ_fold

IPR003972 K_chnl_volt-dep_Kv1

Graphical View of Domain Structure for InterPro Entry Q09470

ProtoNet protein and cluster: Q09470

4 Blocks protein families:

IPB000210 BTB/POZ domain

IPB003091 Potassium channel signature

IPB003972 Skaker voltage-gated K+ channel family signature

IPB004048 Kv1.1 voltage-gated K+ channel signature

UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470

Domain: The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play

a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments

Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino

acids at every third position

Similarity: Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.1/KCNA1 sub-subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470

Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed

conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective

channel through which potassium ions may pass in accordance with their electrochemical gradient

Genatlas biochemistry entry for KCNA1:

potassium voltage-gated channel,Drosophila shaker-related subfamily,member 1 (mouse Kv1.1 homolog),localized in

terminal and juxtaparanodal regions of neurons

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNA1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005251	delayed rectifier potassium channel activity	IBA	--
GO:0005267	potassium channel activity	TAS	7842011
GO:0005515	protein binding	--	--
GO:0015079	potassium ion transmembrane transporter activity	TAS	8845167

KCNA1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Kcna1^tm1Tem for KCNA1
     11 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Kcna1):

behavior/neurological	cardiovascular system	growth/size	hearing/vestibular/ear	homeostasis/metabolism
immune system	integument	mortality/aging	muscle	nervous system
vision/eye

KCNA1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Potassium Channels

	Potassium Channels	1.00			Potassium transporters: outward current	0.42
	Voltage gated Potassium channels	0.43

Synaptic transmission: ion currents

Synaptic transmission: ion currents

1.00

Dopamine-DARPP32 Feedback onto cAMP Pathway

Dopamine-DARPP32 Feedback onto cAMP Pathway

1.00

Transmission across Chemical Synapses

Neuronal System

0.67

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for KCNA1

	Synaptic transmission- ion currents
	Potassium transporters- outward current

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNA1

Dopamine-DARPP32 Feedback onto cAMP Pathway

3 Reactome Pathways for KCNA1

	Potassium Channels
	Neuronal System
	Voltage gated Potassium channels

KCNA1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KCNA1

5/12 Interacting proteins for KCNA1 (Q09470^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DLG4	P78352²^,³	MINT-1900376 MINT-1901225 I2D: score=4
KCNAB2	Q13303³	I2D: score=2
CNTNAP1	P78357³	I2D: score=1
DLG1	Q12959³	I2D: score=1
KCNA2	P16389³	I2D: score=1

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006813	potassium ion transport	TAS	8845167
GO:0007268	synaptic transmission	TAS	--
GO:0051260	protein homooligomerization	IEA	--
GO:0071805	potassium ion transmembrane transport	--	--

KCNA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KCNA1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for KCNA1 available from Tocris Bioscience About this table

Compound	Action	CAS #
DPO-1	Blocker of KV1.5 channel and IKur current	[43077-30-1]
AM 92016 hydrochloride	KV channel blocker	[178894-81-0]
KN-93	CaM kinase II inhibitor. Also K+ channel blocker (KV)	[139298-40-1]
4-Aminopyridine	Non-selective KV channel blocker	[504-24-5]

1 HMDB Compound for KCNA1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Potassium	K+ (see all 16)	7440-09-7	--

7 DrugBank Compounds for KCNA1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Desflurane	Desflurano [INN-Spanish] (see all 2)	57041-67-5	target	inducer	17139284 19298752 17016423
Enflurane	Anesthetic 347 (see all 7)	13838-16-9	target	inducer	17139284 19298752 17016423
Isoflurane	--	26675-46-7	target	inducer	17139284 19298752 17016423
Methoxyflurane	Methoflurane (see all 11)	76-38-0	target	inducer	1336744 17139284 17016423
Sevoflurane	Sevofluran (see all 3)	28523-86-6	target	inducer	17139284 17016423
Amitriptyline	Amitriprolidine (see all 7)	50-48-6	target	inhibitor	17456683
Nifedipine	--	21829-25-4	target	inhibitor	18096604

3 Novoseek chemical compound relationships for KCNA1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
potassium	75.1	30	17136396 (2), 19779067 (2), 10355668 (2), 7842011 (1) (see all 24)
tetraethylammonium	41.7	1	19779067 (1)
calcium	16.5	1	19159951 (1)

Search CenterWatch for drugs/clinical trials and news about KCNA1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KCNA1 gene:

NM_000217.2

Unigene Cluster for KCNA1:

Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)

Hs.416139 [show with all ESTs]

Unigene Representative Sequence: NM_000217

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000382545(uc001qnh.3) ENST00000541095 ENST00000543874

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Additional cDNA sequence:

AK094760.1 AK124568.1 BC101733.1 BC112180.1 L02750.1

2 DOTS entries:

DT.309759 DT.91710590

7 AceView cDNA sequences:

AW197476 BI117089 NM_000217 L02750 H41110 BX283298 H18086

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KCNA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTCTAATAG

About this image

KCNA1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

nGnG Amacrine Cells

Amacrine, Retina

Skeletal Muscle

Extraocular Muscles

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Genevestigator expression for KCNA1

SOURCE GeneReport for Unigene cluster: Hs.416139

SABiosciences Expression via Pathway-Focused PCR Arrays including KCNA1:

Neuronal Ion Channels in human mouse rat

Polycomb & Trithorax Target Genes in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNA1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KCNA1 gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KCNA1¹	potassium voltage-gated channel, shaker-related subfamily, more	83.3(n) 92.87(a)		428101 XM_425660.2 XP_425660.2
lizard (Anolis carolinensis)	Reptilia	KCNA1⁶	--	90(a)	1 ↔ 1	5(80804519-80806003)
African clawed frog (Xenopus laevis)	Amphibia	kcna1-A²	potassium voltage-gated channel	82.09(n)		M94258.1
zebrafish (Danio rerio)	Actinopterygii	Dr.16730²	Transcribed sequence with moderate similarity to protein more	79.91(n)		BM034895.1
fruit fly (Drosophila melanogaster)	Insecta	Sh³	courtship behavior voltage-gated potassium channel	74(a)		--
worm (Caenorhabditis elegans)	Secernentea	shk-1⁶	Protein SHK-1, isoform a	34(a)	possible ortholog	II(9758175-9768206)

ENSEMBL Gene Tree for KCNA1 (if available)
TreeFam Gene Tree for KCNA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KCNA1 gene

KCNA6² KCNA2² KCNC2² KCNC4² KCND2² KCND1² KCNA7² KCNA5²

KCNC1² KCNA4² KCNC3² KCNA3² KCND3² KCNA10²

18/26 SIMAP similar genes for KCNA1 using alignment to 1 protein entry: KCNA1_HUMAN(see all similar genes):

KCNA2 KCNA10 KCNA7 KCNA3 KCNA4 KCNA5

KCNA6 KCNB1 KCND3 KCNB2 KCND1 KCNC2

KCND2 KCNS2 KCNC1 KCNC4 KCNS1 KCNF1

KCNA1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1048500^1,2	C,F,O,A,H,	non-pathogenic	5021228(-)	`ATGATA/GCACAG`	2	C	syn¹ ese³		33		MN NS EA NA WA CSA EU	8771
rs104894352^1,2	C	pathogenic	6010801(+)	`CATTGC/TGTCCA`	2	A V	mis¹		0	--	--	--	--
rs104894355^1,2	C	pathogenic	6010814(+)	`TGCCCA/GTACCT`	2	I V	mis¹		0	--	--	--	--
rs104894353^1,2	C	pathogenic	6011049(+)	`AGAGAC/GCTAGG`	2	D E	mis¹		0	--	--	--	--
rs104894356^1,2	C	pathogenic	6011279(+)	`CGGACA/TTCTTC`	2	I F	mis¹		0	--	--	--	--
rs28933381^1,2	C	pathogenic	6011300(+)	`TCTTCG/CCCTGC`	2	/P /A	mis¹		1		NA	2
rs28933383^1,2	C	pathogenic	6011347(+)	`GGAAAA/C/G/T GCTGT`	4	K T R M	mis¹ ese³		2		NA	4
rs104894354^1,2	C	pathogenic	6011348(+)	`TGGAAA/GCGCTG`	2	T A	mis¹		0	--	--	--	--
rs104894357^1,2	C	pathogenic	6011473(+)	`CATCTG/TTTGCC`	2	C F	mis¹		0	--	--	--	--
rs104894349^1,2	C	pathogenic	6011504(+)	`TCTCCG/TTCATG`	2	V F	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KCNA1 (5019071 - 5040527 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KCNA1: --
Human Gene Mutation Database (HGMD): KCNA1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNA1

DNA2.0 Custom Variant and Variant Library Synthesis for KCNA1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KCNA1 for disorders           About GeneDecksing

OMIM gene information: 176260
OMIM disorders: 160120
UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470

Defects in KCNA1 are the cause of episodic ataxia type 1 (EA1) [MIM:160120]; also known as paroxysmal or

episodic ataxia with myokymia (EAM) or paroxysmal ataxia with neuromyotonia. EA1 is an autosomal dominant disorder

characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks

demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve.

Nystagmus is absent

Defects in KCNA1 are the cause of myokymia isolated type 1 (MK1) [MIM:160120]. Myokymia is a condition

characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement

of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and

multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in

many persons and have no grave significance

20/21 diseases for KCNA1 (see all 21): About MalaCards

myokymia episodic ataxia ataxia episodic ataxia/myokymia syndrome

spinocerebellar ataxia type 6 spinocerebellar ataxia fibrous histiocytoma epilepsies, partial

malignant fibrous histiocytoma histiocytoma convulsions hypomagnesemia

cerebellar ataxia nystagmus seizures medulloblastoma

twinning breast carcinoma sarcoma carcinoma

3 diseases from the University of Copenhagen DISEASES database for KCNA1:

Neuropathy Myopathy Benign neonatal seizures

10/12 Novoseek disease relationships for KCNA1 gene (see all 12) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
episodic ataxia, type 1	94.8	6	10391459 (1), 11310626 (1), 19779067 (1), 16956965 (1) (see all 6)
neuromyotonia	82	4	12799903 (1), 15351427 (1), 16956965 (1), 17140792 (1)
familial benign neonatal convulsions	70.3	1	11579435 (1)
spinocerebellar ataxia type 6	69.3	1	16100538 (1)
myoclonic epilepsy juvenile	65.2	2	16100538 (1), 17008177 (1)
spinocerebellar ataxias	59.6	1	7762567 (1)
epilepsy generalized	59.1	3	16100538 (1), 17008177 (1), 11579435 (1)
epilepsy frontal lobe	56.7	2	17008177 (1), 11579435 (1)
neurological disorders	53.7	3	7620586 (1), 10391459 (1), 9714564 (1)
epilepsy	41.3	3	17872363 (1), 17008177 (1), 11579435 (1)

Human Genome Epidemiology (HuGE) Navigator: KCNA1 (3 documents)

Export disorders for KCNA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for KCNA1 gene, integrated from 9 sources (see all 108):
(articles sorted by number of sources associating them with KCNA1)

Utopia: connect your pdf to the dynamic
world of online information

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. (PubMed id 7842011)^{1, 2, 9} Browne D.L.... Litt M. (1994)
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. (PubMed id 17136396)^{1, 2, 9} Chen H....Hisama F.M. (2007)
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. (PubMed id 10355668)^{1, 2, 9} Zuberi S.M....Hanna M.G. (1999)
Three novel KCNA1 mutations in episodic ataxia type I families. (PubMed id 9600245)^{1, 2, 9} Scheffer H.... Buys C.H.C.M. (1998)
Molecular cloning, characterization, and genomic localization of a human potassium channel gene. (PubMed id 1349297)^{1, 3, 9} Curran M.E.... Keating M.T. (1992)
Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. (PubMed id 8871592)^{1, 2, 9} Comu S.... Narayanan V. (1996)
International Union of Pharmacology. LIII. Nomenclatu re and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)^{1, 3} Gutman G.A....Wang X. (2005)
The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence. (PubMed id 15837928)^{1, 2} Gubitosi-Klug R.A.... Gross R.W. (2005)
A novel mutation in KCNA1 causes episodic ataxia without myokymia. (PubMed id 15532032)^{1, 2} Lee H.... Nelson S.F. (2004)
Nervous system targets of RNA editing identified by comparative genomics. (PubMed id 12907802)^{1, 2} Hoopengardner B.... Reenan R. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3736	HGNC: 6218	AceView: KCNA1	Ensembl:ENSG00000111262	euGenes: HUgn3736
ECgene: KCNA1	H-InvDB: KCNA1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KCNA1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNA1

Intellectual Property for KCNA1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KCNA1 gene:
Search GeneIP for patents involving KCNA1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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