Details for: KCNA1

Gene ID: 3736

Symbol: KCNA1

Ensembl ID: ENSG00000111262

Description: potassium voltage-gated channel subfamily A member 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.24
    Marker Score: 2249.5
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 1.83
    Marker Score: 1013
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.7
    Marker Score: 1898
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.34
    Marker Score: 2548
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.32
    Marker Score: 2045
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.28
    Marker Score: 1591
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.23
    Marker Score: 11674
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.2
    Marker Score: 683
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.07
    Marker Score: 16791
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71824
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48048
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5355
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.88
    Marker Score: 4745.5
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.88
    Marker Score: 2024.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.85
    Marker Score: 491
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.83
    Marker Score: 1678
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.78
    Marker Score: 6717
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.77
    Marker Score: 47197
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.73
    Marker Score: 384
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.68
    Marker Score: 1175
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.64
    Marker Score: 4814.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.64
    Marker Score: 509
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.61
    Marker Score: 367
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.58
    Marker Score: 549
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.58
    Marker Score: 3019.5
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.56
    Marker Score: 3337
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.54
    Marker Score: 260
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.53
    Marker Score: 584
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.49
    Marker Score: 17985
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.41
    Marker Score: 651
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.39
    Marker Score: 378
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.39
    Marker Score: 415
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.38
    Marker Score: 225
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.38
    Marker Score: 1566
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.37
    Marker Score: 217
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.35
    Marker Score: 305
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.35
    Marker Score: 991
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.33
    Marker Score: 297
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.32
    Marker Score: 135
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.32
    Marker Score: 503
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.28
    Marker Score: 125
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.27
    Marker Score: 776
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.25
    Marker Score: 311
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.25
    Marker Score: 2145
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.24
    Marker Score: 480
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.23
    Marker Score: 81
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.23
    Marker Score: 2361
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.23
    Marker Score: 467.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.2
    Marker Score: 849
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.2
    Marker Score: 485
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.2
    Marker Score: 364
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.2
    Marker Score: 464
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.19
    Marker Score: 745
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.18
    Marker Score: 227
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.18
    Marker Score: 66
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.18
    Marker Score: 88
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.18
    Marker Score: 6059
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.18
    Marker Score: 718
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.18
    Marker Score: 648
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.17
    Marker Score: 167
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.17
    Marker Score: 113
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.17
    Marker Score: 494
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.16
    Marker Score: 275
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.16
    Marker Score: 3226
  • Cell Name: lung neuroendocrine cell (CL1000223)
    Fold Change: 0.16
    Marker Score: 44
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.16
    Marker Score: 82
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.16
    Marker Score: 71
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.15
    Marker Score: 442
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.15
    Marker Score: 53
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.15
    Marker Score: 179
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.14
    Marker Score: 243
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.14
    Marker Score: 45
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.14
    Marker Score: 5306
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.13
    Marker Score: 47
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.12
    Marker Score: 77
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.11
    Marker Score: 31
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.11
    Marker Score: 213
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.11
    Marker Score: 39
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.11
    Marker Score: 51
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.11
    Marker Score: 490
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.11
    Marker Score: 27
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.1
    Marker Score: 148
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.1
    Marker Score: 104
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: 0.1
    Marker Score: 27
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.09
    Marker Score: 938
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.09
    Marker Score: 68.5
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.09
    Marker Score: 24
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.08
    Marker Score: 134
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.08
    Marker Score: 26
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.08
    Marker Score: 20
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.08
    Marker Score: 29
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.08
    Marker Score: 45

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Other Information

**Key characteristics:** * The KCNA1 gene is located on chromosome 17q21.1. * The protein is a single-pass transmembrane protein with a molecular weight of approximately 140 kDa. * The protein is expressed in high levels in blood vessel endothelial cells, erythrocytes, plasma cells, cardiac endothelial cells, L5 extratelencephalic projecting glutamatergic cortical neuron, retinal ganglion cell, corticothalamic-projecting glutamatergic cortical neuron, megakaryocyte, goblet cell, and cardiac muscle myoblast. **Pathways and functions:** * The KCNA1 gene is involved in cell communication by electrical coupling. * The protein is a key component of the delayed rectifier potassium channel, which is responsible for regulating the flow of potassium ions down their concentration gradient. * The protein is also involved in the regulation of presynaptic and postsynaptic membrane potentials. * The protein is important for regulating muscle contraction, the startle response, and the regulation of the visual system. **Clinical significance:** * Mutations in the KCNA1 gene have been linked to a number of human diseases, including epilepsy, heart disease, and stroke. * The KCNA1 gene is a promising target for the treatment of these diseases.

Genular Protein ID: 663898923

Symbol: KCNA1_HUMAN

Name: Voltage-gated potassium channel subunit Kv1.1

UniProtKB Accession Codes:

Q09470 A6NM83 Q3MIQ9

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 10 DrugCentral 1 EMBL 5 Ensembl 1 ExpressionAtlas 1 GO 47 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 4 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 4 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 1 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 2 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 19912772

Title: Human potassium channel genes: molecular cloning and functional expression.

PubMed ID: 19912772

DOI: 10.1016/1044-7431(90)90004-n

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2128063

Title: Cloning and characterization of a cDNA encoding a human brain potassium channel.

PubMed ID: 2128063

DOI: 10.1042/bst0180891

PubMed ID: 11086297

Title: Subunit composition and novel localization of K+ channels in spinal cord.

PubMed ID: 11086297

DOI: 10.1002/1096-9861(20000101)429:1<166::aid-cne13>3.0.co;2-y

PubMed ID: 12907802

Title: Nervous system targets of RNA editing identified by comparative genomics.

PubMed ID: 12907802

DOI: 10.1126/science.1086763

PubMed ID: 15837928

Title: The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence.

PubMed ID: 15837928

DOI: 10.1073/pnas.0501999102

PubMed ID: 17917103

Title: Ionic channel function in action potential generation: current perspective.

PubMed ID: 17917103

DOI: 10.1007/s12035-007-8001-0

PubMed ID: 19968958

Title: Potassium channel regulator KCNRG regulates surface expression of Shaker-type potassium channels.

PubMed ID: 19968958

DOI: 10.1016/j.bbrc.2009.11.143

PubMed ID: 21106501

Title: Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

PubMed ID: 21106501

DOI: 10.1093/brain/awq318

PubMed ID: 21483673

Title: Evidence for presence and functional effects of Kv1.1 channels in beta-cells: general survey and results from mceph/mceph mice.

PubMed ID: 21483673

DOI: 10.1371/journal.pone.0018213

PubMed ID: 23774215

Title: Potassium channel KCNA1 modulates oncogene-induced senescence and transformation.

PubMed ID: 23774215

DOI: 10.1158/0008-5472.can-12-3690

PubMed ID: 23903368

Title: Ankyrin-3 is a novel binding partner of the voltage-gated potassium channel Kv1.1 implicated in renal magnesium handling.

PubMed ID: 23903368

DOI: 10.1038/ki.2013.280

PubMed ID: 7842011

Title: Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.

PubMed ID: 7842011

DOI: 10.1038/ng1094-136

PubMed ID: 8541859

Title: Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.

PubMed ID: 8541859

DOI: 10.1093/hmg/4.9.1671

PubMed ID: 8845167

Title: Episodic ataxia results from voltage-dependent potassium channels with altered functions.

PubMed ID: 8845167

DOI: 10.1016/0896-6273(95)90022-5

PubMed ID: 8871592

Title: Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.

PubMed ID: 8871592

DOI: 10.1002/ana.410400422

PubMed ID: 9600245

Title: Three novel KCNA1 mutations in episodic ataxia type I families.

PubMed ID: 9600245

DOI: 10.1007/s004390050722

PubMed ID: 10355668

Title: 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

DOI: 10.1093/brain/122.5.817

PubMed ID: 11026449

Title: Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

PubMed ID: 11026449

DOI: 10.1002/1531-8249(200010)48:4<647::aid-ana12>3.3.co;2-h

PubMed ID: 11013453

Title: Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 -- a challenging problem.

PubMed ID: 11013453

DOI: 10.1002/1098-1004(200010)16:4<374::aid-humu15>3.0.co;2-4

PubMed ID: 12077175

Title: Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.

PubMed ID: 12077175

DOI: 10.1523/jneurosci.22-12-04786.2002

PubMed ID: 15532032

Title: A novel mutation in KCNA1 causes episodic ataxia without myokymia.

PubMed ID: 15532032

DOI: 10.1002/humu.9295

PubMed ID: 17156368

Title: Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.

PubMed ID: 17156368

DOI: 10.1111/j.1460-9568.2006.05186.x

PubMed ID: 17136396

Title: Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

PubMed ID: 17136396

DOI: 10.1007/s10048-006-0071-z

PubMed ID: 19307729

Title: A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.

PubMed ID: 19307729

DOI: 10.1172/jci36948

PubMed ID: 19903818

Title: Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.

PubMed ID: 19903818

DOI: 10.1074/jbc.m109.041517

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

Sequence Information:

  • Length: 495
  • Mass: 56466
  • Checksum: 0A1B1AB87BCDDEBA
  • Sequence:
    • MTVMSGENVD EASAAPGHPQ DGSYPRQADH DDHECCERVV INISGLRFET QLKTLAQFPN 
TLLGNPKKRM RYFDPLRNEY FFDRNRPSFD AILYYYQSGG RLRRPVNVPL DMFSEEIKFY 
ELGEEAMEKF REDEGFIKEE ERPLPEKEYQ RQVWLLFEYP ESSGPARVIA IVSVMVILIS 
IVIFCLETLP ELKDDKDFTG TVHRIDNTTV IYNSNIFTDP FFIVETLCII WFSFELVVRF 
FACPSKTDFF KNIMNFIDIV AIIPYFITLG TEIAEQEGNQ KGEQATSLAI LRVIRLVRVF 
RIFKLSRHSK GLQILGQTLK ASMRELGLLI FFLFIGVILF SSAVYFAEAE EAESHFSSIP 
DAFWWAVVSM TTVGYGDMYP VTIGGKIVGS LCAIAGVLTI ALPVPVIVSN FNYFYHRETE 
GEEQAQLLHV SSPNLASDSD LSRRSSSTMS KSEYMEIEED MNNSIAHYRQ VNIRTANCTT 
ANQNCVNKSK LLTDV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.