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Aliases & Descriptions for KCNA1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| AEMK 2, 5 | | EA1 2, 5 | | HBK1 2, 3 | | HUK1 1, 2 | | HUKI 3 | | KV1.1 2 | | Kv1.1 1 | | MBK1 1, 2 | | MGC126782 2 | | MGC138385 2 | | MK1 2 | | RBK1 1, 2 |
| | | Descriptions |
|---|
| Voltage-gated potassium channel subunit Kv1.1 2, 3 | | potassium voltage-gated channel subfamily A member 1 2 | potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 2 |
|
| | Search outside databases for aliases for KCNA1 genePrevious GC identifers: GC12P004758 GC12P004912 GC12P004891 GC12P004892 |
Summaries for KCNA1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470Function: 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 |
Genomic Location for KCNA1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the KCNA1 gene 
Entrez Gene cytogenetic band: 12p13.32 Ensembl cytogenetic band: 12p13.32 HGNC cytogenetic band: 12p13KCNA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P004894:
(about GC identifiers)
Start:
|
4,889,334 bp from pter |
End:
|
4,897,683 bp from pter |
Size:
|
8,350 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000012.10 NT_009759.15
| Proteins for KCNA1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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)
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
PDB structures from and Proteopedia :2AFL (3D)
 
Secondary accessions: A6NM83 Q3MIQ9Post-translational modifications:
Palmitoylated on Cys-243; which may be required for membrane targeting1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000208.2
ENSEMBL proteins: ENSP00000371985 ENSP00000228858
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for KCNA1: Assays for KCNA1: | Protein
Domains/ Families for KCNA1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q09470Domain: 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 compartmentsDomain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third positionSimilarity: Belongs to the potassium channel family. A (Shaker) subfamily | Gene Function for KCNA1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000217
Applied Biosystems Silencer® siRNAs for KCNA1
Sigma-Aldrich siRNA and siRNA Panels for KCNA1  Sigma-Aldrich shRNA Panels and shRNA for KCNA1  Explore Sigma-Aldrich super-pooled esiRNAs 
| Clones: |  | Invitrogen Clones for KCNA1 | |  | Millipore Clones for the Expression of KCNA1 |               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000217                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000217                                  untagged cDNA clone in CMV expression vector: NM_000217 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000217
UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470Function: 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 gradientGenatlas 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 neurons11 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Kcna1):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for KCNA1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for KCNA1 
5/55 Interacting proteins for KCNA1 (ENSP000002288583 Q094702) via UniProtKB, MINT, and/or STRING (see all 55
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for KCNA1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for KCNA1 |
 | Sigma-Aldrich Small Molecules for KCNA1: Inhibitor |
Compounds for KCNA1 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| 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] | | SG 209 | K+ channel opener | [83440-03-3] | | 4-Aminopyridine | K+ channel blocker | [504-24-5] | About this table
1 Novoseek chemical compound relationship for KCNA1 gene
About this table
|
Transcripts for KCNA1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000217
Sigma-Aldrich siRNA and siRNA Panels for KCNA1  Sigma-Aldrich shRNA Panels and shRNA for KCNA1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000217 REFSEQ mRNAs for KCNA1 gene: NM_000217.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000217               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000217                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000217                                  untagged cDNA clone in CMV expression vector: NM_000217  Additional cDNA sequence: AK094760.1 AK124568.1 BC101733.1 BC112180.1 L02750.1 2 DOTS entries: DT.309759 DT.91710590 7 AceView cDNA sequences:BX283298 L02750 H41110 AW197476 BI117089 NM_000217 H18086
highest scoring ESTs for KCNA1:L02750 AI694783 AW197476 BI117089 H41110 AA018118 AA018120 AA018214 AA057369 BE218939 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
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000382545
ENST00000228858
|
Expression for KCNA1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| KCNA1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for KCNA1
1 / 2 / 3 7 probe-sets matching KCNA1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CCTCTAATAG
SOURCE GeneReport for Unigene cluster: Hs.416139
Expression variation in blood from EXPOLDB for KCNA1 |
Orthologs for KCNA1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for KCNA1 gene from 5/9 species (see all 9
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
KCNA11 |
-- |
potassium voltage-gated channel, shaker-related subfamily, more |
96.36(n) 98.79(a) |
486732 XM_543859.2 XP_543859.1 |
chimpanzee (Pan troglodytes) |
KCNA11 |
-- |
potassium voltage-gated channel, shaker-related subfamily, more |
99.39(n) 99.8(a) |
466928 XM_522328.2 XP_522328.2 |
cow (Bos taurus) |
KCNA11 |
-- |
potassium voltage-gated channel, shaker-related subfamily, more |
93.4(n) 96.57(a) |
538703 XM_582110.2 XP_582110.1 |
rat (Rattus norvegicus) |
Kcna11 |
-- |
potassium voltage-gated channel, shaker-related subfamily, more |
92.86(n) 98.18(a) |
24520 NM_173095.2 NP_775118.1 |
mouse (Mus musculus) |
Kcna11, 5 |
6 (61.00 cM)5
|
potassium voltage-gated channel, shaker-related subfamily, more1, 5 |
93.33(n)1 98.38(a)1 |
164851 NM_010595.31 NP_034725.31 AI8406275 AK0330745 (see all 10) |
About this table Species with no ortholog for KCNA1
ENSEMBL Gene Tree for KCNA1 | Paralogs for KCNA1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for KCNA1 gene
- KCNA62 KCNA22 KCNA32
|
SNPs/Variants for KCNA1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for KCNA1 (up to first 250kb)
|
Disorders & Mutations for KCNA1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 176260 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 significance10/12 Novoseek disease relationships for KCNA1 gene (see all 12
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| episodic ataxia, type 1 |
94.35 |
5 |
10391459 (1), 11310626 (1), 16956965 (1), 17156368 (1) (see all 5) |
| neuromyotonia |
83.12 |
4 |
12799903 (1), 15351427 (1), 16956965 (1), 17140792 (1) |
| familial benign neonatal convulsions |
71.36 |
1 |
11579435 (1) |
| spinocerebellar ataxia type 6 |
70.72 |
1 |
16100538 (1) |
| myoclonic epilepsy juvenile |
67.11 |
2 |
16100538 (1), 17008177 (1) |
| spinocerebellar ataxias |
61.63 |
1 |
7762567 (1) |
| epilepsy generalized |
60.83 |
3 |
16100538 (1), 17008177 (1), 11579435 (1) |
| epilepsy frontal lobe |
58.61 |
2 |
17008177 (1), 11579435 (1) |
| neurological disorders |
56.03 |
3 |
7620586 (1), 10391459 (1), 9714564 (1) |
| seizures febrile |
42.77 |
2 |
17008177 (1), 11579435 (1) |
About this table
Human Gene Mutation Database: KCNA1
|
Medical News for KCNA1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for KCNA1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/79 PubMed articles for KCNA1 gene (see all 79
):- Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. (PubMed id 7842011)1, 3, 4 Browne D.L.... Litt M. (1994)
- Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. (PubMed id 17136396)1, 3, 4 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, 3, 4 Zuberi S.M....Hanna M.G. (1999)
- Three novel KCNA1 mutations in episodic ataxia type I families. (PubMed id 9600245)1, 3, 4 Scheffer H.... Buys C.H.C.M. (1998)
- Molecular cloning, characterization, and genomic localization of a human potassium channel gene. (PubMed id 1349297)1, 2, 3 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, 3, 4 Comu S.... Narayanan V. (1996)
- International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)2, 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)3, 4 Gubitosi-Klug R.A.... Gross R.W. (2005)
- A novel mutation in KCNA1 causes episodic ataxia without myokymia. (PubMed id 15532032)3, 4 Lee H.... Nelson S.F. (2004)
- Nervous system targets of RNA editing identified by comparative genomics. (PubMed id 12907802)3, 4 Hoopengardner B.... Reenan R. (2003)
|
Search for KCNA1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing KCNA1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing KCNA1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KCNA1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=KCNA1 |
|
| | | About This Section
| --
| Services for KCNA1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for KCNA1:

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|
 |  |  |
| | | | Tocris compounds for KCNA1 |
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Incremental update: 13 Oct 2009
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