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Kcna1
Gene Detail
Symbol

Name
ID
Kcna1
potassium voltage-gated channel, shaker-related subfamily, member 1
MGI:96654
Synonyms
Kv1.1, MBK1, mceph, Mk-1, mouse brain potassium channel protein-1, Shak
Feature Type
protein coding gene
Genetic Map
Chromosome 6
61.57 cM, cytoband F1-F3
Detailed Genetic Map ± 1 cM


Mapping data(15)
Sequence Map
Chr6:126636463-126645801 bp, - strand
From NCBI annotation of GRCm38

  9339 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:183  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: KCNA1
Protein SuperFamily: potassium voltage-gated channel, alpha subunit, subfamilies A/C/D/F/G/S
Gene Tree: Kcna1

Human
homologs
KCNA1, potassium channel, voltage gated shaker related subfamily A, member 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 3736
neXtProt AC: NX_Q09470

Human Synonyms: AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1

Human Chr (Location): 12p13.32; chr12:4909907-4918256 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human KCNA1

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Spontaneous(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Various mutations at this allele have diverse affects including behavioral abnormalities, megencephaly, and in one case, embryonic lethality.
 
Human Diseases Modeled in Mice Using Kcna1 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(3)
Interactions
Kcna1 interacts with 470 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (70 annotations)
Process brain development, cell communication by electrical coupling, ...
Component apical plasma membrane, axon, ...
Function delayed rectifier potassium channel activity, ion channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (18 records)
Data Summary: Results (24)    Tissues (8)    Images (15)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 21
RT-PCR 3
cDNA source data(15)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase kcna1 ; ZFIN kcna1a    NEW 
Molecular
reagents
All nucleic(42) Genomic(19) cDNA(16) Primer pair(3) Other(4)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000047976 (Evidence)
Entrez Gene 16485 (Evidence)
DFCI TC1575898, TC1592568, TC1633132
DoTS DT.101366112, DT.110500661, DT.60105256, DT.94233585
NIA Mouse Gene Index U027876
Consensus CDS Project CCDS20555.1
International Mouse Phenotyping Consortium Status Kcna1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 16485 NCBI Gene Model | MGI Sequence Detail 9339 C57BL/6J ±  kb
transcript NM_010595 RefSeq | MGI Sequence Detail 8970 C57BL/6 
polypeptide P16388 UniProt | EBI | MGI Sequence Detail 495 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(2) UniProt(4)
Polymorphisms
All PCR and RFLP(7) : PCR(2) RFLP(5) SNPs within 2kb(53 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011333 BTB/POZ fold
InterPro IPR000210 BTB/POZ-like
InterPro IPR005821 Ion transport domain
InterPro IPR003131 Potassium channel tetramerisation-type BTB domain
InterPro IPR003968 Potassium channel, voltage dependent, Kv
InterPro IPR003972 Potassium channel, voltage dependent, Kv1
InterPro IPR004048 Potassium channel, voltage dependent, Kv1.1
InterPro IPR003091 Voltage-dependent potassium channel
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
Protein Ontology PR:000009250 voltage-gated potassium channel subunit KCNA1
Graphical View of Protein Domain Structure
References
(Earliest) J:9129 Tempel BL, et al., Cloning of a probable potassium channel gene from mouse brain. Nature. 1988 Apr 28;332(6167):837-9
(Latest) J:219896 Zhang A, et al., Neurofascin 140 is an embryonic neuronal neurofascin isoform that promotes the assembly of the node of Ranvier. J Neurosci. 2015 Feb 4;35(5):2246-54
All references(125)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-11554, MGD-MRK-11558, MGD-MRK-12133, MGD-MRK-12248, MGD-MRK-14397, MGI:2141481, MGI:96931

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory