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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.1015
    Cell Significance Index: 12.5400
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.0690
    Cell Significance Index: 14.2600
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.9299
    Cell Significance Index: 10.5600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.8160
    Cell Significance Index: 23.2900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7110
    Cell Significance Index: 142.6300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7029
    Cell Significance Index: 9.5900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.6913
    Cell Significance Index: 16.7500
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.5919
    Cell Significance Index: 6.5300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.5085
    Cell Significance Index: 34.2000
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.2720
    Cell Significance Index: 3.0200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1879
    Cell Significance Index: 2.3300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1452
    Cell Significance Index: 100.4200
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: 0.1073
    Cell Significance Index: 1.4300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0603
    Cell Significance Index: 21.6300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0063
    Cell Significance Index: 0.1000
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: 0.0046
    Cell Significance Index: 0.0500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.0011
    Cell Significance Index: 0.0400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0065
    Cell Significance Index: -0.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0126
    Cell Significance Index: -9.3200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0162
    Cell Significance Index: -9.1500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0195
    Cell Significance Index: -0.6400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0232
    Cell Significance Index: -6.6800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0352
    Cell Significance Index: -1.0100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0374
    Cell Significance Index: -7.8800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0522
    Cell Significance Index: -7.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0552
    Cell Significance Index: -9.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0625
    Cell Significance Index: -8.0800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0801
    Cell Significance Index: -1.7000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0830
    Cell Significance Index: -9.5100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0902
    Cell Significance Index: -3.1600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1084
    Cell Significance Index: -8.0800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1183
    Cell Significance Index: -2.5900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1208
    Cell Significance Index: -6.3400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1245
    Cell Significance Index: -1.1800
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1260
    Cell Significance Index: -1.4700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1264
    Cell Significance Index: -1.8100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1275
    Cell Significance Index: -2.7300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1276
    Cell Significance Index: -7.8400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1282
    Cell Significance Index: -7.2000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1349
    Cell Significance Index: -6.2900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1360
    Cell Significance Index: -2.7300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1366
    Cell Significance Index: -2.8600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1502
    Cell Significance Index: -2.9700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1515
    Cell Significance Index: -7.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1619
    Cell Significance Index: -7.3400
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1676
    Cell Significance Index: -2.8900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1762
    Cell Significance Index: -3.0200
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1777
    Cell Significance Index: -1.9400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1833
    Cell Significance Index: -6.7300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1879
    Cell Significance Index: -5.2500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1962
    Cell Significance Index: -3.8300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.2007
    Cell Significance Index: -3.2200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2068
    Cell Significance Index: -5.3100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2120
    Cell Significance Index: -2.3100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2205
    Cell Significance Index: -5.5000
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.2217
    Cell Significance Index: -2.9000
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.2274
    Cell Significance Index: -2.7200
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.2301
    Cell Significance Index: -3.1600
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.2377
    Cell Significance Index: -3.4700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2399
    Cell Significance Index: -12.1200
  • Cell Name: osteoclast (CL0000092)
    Fold Change: -0.2400
    Cell Significance Index: -2.4500
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.2478
    Cell Significance Index: -3.1400
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2530
    Cell Significance Index: -5.2800
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.2623
    Cell Significance Index: -3.2300
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.2677
    Cell Significance Index: -2.6200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2699
    Cell Significance Index: -9.3800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2712
    Cell Significance Index: -6.9100
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.2729
    Cell Significance Index: -1.9600
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.2744
    Cell Significance Index: -2.9500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2763
    Cell Significance Index: -7.5200
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2764
    Cell Significance Index: -2.6300
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.2772
    Cell Significance Index: -3.3600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2835
    Cell Significance Index: -3.5400
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.2843
    Cell Significance Index: -3.3500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2847
    Cell Significance Index: -7.1100
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2852
    Cell Significance Index: -3.6000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2865
    Cell Significance Index: -6.8700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.2935
    Cell Significance Index: -7.1600
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.2942
    Cell Significance Index: -4.0000
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: -0.2981
    Cell Significance Index: -3.3000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2999
    Cell Significance Index: -6.4800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.3045
    Cell Significance Index: -3.3100
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: -0.3089
    Cell Significance Index: -3.2800
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: -0.3094
    Cell Significance Index: -3.6400
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3099
    Cell Significance Index: -3.9100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3104
    Cell Significance Index: -7.9300
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.3148
    Cell Significance Index: -3.7200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3151
    Cell Significance Index: -7.2800
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.3177
    Cell Significance Index: -5.4300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.3226
    Cell Significance Index: -8.0400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3237
    Cell Significance Index: -9.5400
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.3266
    Cell Significance Index: -3.4900
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.3360
    Cell Significance Index: -3.2600
  • Cell Name: immature B cell (CL0000816)
    Fold Change: -0.3403
    Cell Significance Index: -3.2200
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.3425
    Cell Significance Index: -6.8300
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.3455
    Cell Significance Index: -4.0000
  • Cell Name: promonocyte (CL0000559)
    Fold Change: -0.3483
    Cell Significance Index: -3.7200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.3509
    Cell Significance Index: -7.1400
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.3515
    Cell Significance Index: -4.8600
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.3527
    Cell Significance Index: -3.6700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The Kv1.1 channel is a voltage-gated potassium channel that is characterized by its unique subunit structure and biophysical properties. Some of the key characteristics of the Kv1.1 channel include: * **Voltage dependence**: The Kv1.1 channel is activated by depolarization and inactivated by hyperpolarization. * **Delayed rectification**: The channel exhibits a delayed rectification profile, which allows it to repolarize the membrane potential during action potentials. * **High conductance**: The Kv1.1 channel has a high conductance for potassium ions, which enables it to regulate the flow of potassium ions into the cell. * **Low sensitivity to blockers**: The Kv1.1 channel is relatively insensitive to blockers such as 4-aminopyridine and tetraethylammonium. **Pathways and Functions** The Kv1.1 channel is involved in various cellular processes, including: * **Regulation of neuronal excitability**: The Kv1.1 channel helps to regulate the electrical activity of neurons by repolarizing the membrane potential during action potentials. * **Synaptic transmission**: The Kv1.1 channel plays a role in regulating synaptic transmission by modulating the release of neurotransmitters. * **Cardiac function**: The Kv1.1 channel is involved in regulating cardiac function by modulating the electrical activity of cardiomyocytes. * **Blood pressure regulation**: The Kv1.1 channel may also play a role in regulating blood pressure by modulating the electrical activity of blood vessels. **Clinical Significance** Alterations in KCNA1 expression have been implicated in various neurological and cardiovascular disorders, including: * **Epilepsy**: Mutations in KCNA1 have been associated with certain forms of epilepsy, including benign familial neonatal epilepsy. * **Cardiac arrhythmias**: The Kv1.1 channel may contribute to the development of cardiac arrhythmias, such as atrial fibrillation. * **Hypertension**: The Kv1.1 channel may also play a role in regulating blood pressure, and alterations in its expression may contribute to the development of hypertension. * **Neuropathic pain**: The Kv1.1 channel may also play a role in regulating pain transmission, and alterations in its expression may contribute to the development of neuropathic pain. In summary, the KCNA1 gene encodes for the human voltage-gated potassium channel subunit Kv1.1, which plays a crucial role in regulating the electrical activity of neurons and other cells. Alterations in KCNA1 expression have been implicated in various neurological and cardiovascular disorders, highlighting the importance of this gene in human health and disease.

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 49 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 4 MINT 1 MalaCards 1 MassIVE 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 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 2 TreeFam 1 UCSC 1 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.