Page last updated: 2024-10-06

Dravet syndrome: Scn1a-A1783V point mutation model

Proteins (77)

ProteinSynonymsTaxonomy
L-lactate dehydrogenase A chainLDH-A; EC 1.1.1.27; LDH muscle subunit; LDH-MMus musculus (house mouse)
L-lactate dehydrogenase B chainLDH-B; EC 1.1.1.27; LDH heart subunit; LDH-HMus musculus (house mouse)
Amine oxidase [flavin-containing] AEC 1.4.3.4; Monoamine oxidase type A; MAO-AMus musculus (house mouse)
Glutamate receptor 1GluR-1; AMPA-selective glutamate receptor 1; GluR-A; GluR-K1; Glutamate receptor ionotropic, AMPA 1; GluA1Mus musculus (house mouse)
Glutamate receptor 2GluR-2; AMPA-selective glutamate receptor 2; GluR-B; GluR-K2; Glutamate receptor ionotropic, AMPA 2; GluA2Mus musculus (house mouse)
Gamma-aminobutyric acid receptor subunit alpha-2GABA(A) receptor subunit alpha-2Mus musculus (house mouse)
Gamma-aminobutyric acid receptor subunit alpha-3GABA(A) receptor subunit alpha-3Mus musculus (house mouse)
Gamma-aminobutyric acid receptor subunit beta-1GABA(A) receptor subunit beta-1Mus musculus (house mouse)
Gamma-aminobutyric acid receptor subunit alpha-1GABA(A) receptor subunit alpha-1Mus musculus (house mouse)
Gamma-aminobutyric acid receptor subunit beta-3GABA(A) receptor subunit beta-3Mus musculus (house mouse)
Gamma-aminobutyric acid receptor subunit alpha-4GABA(A) receptor subunit alpha-4Mus musculus (house mouse)
Sodium channel subunit beta-2Mus musculus (house mouse)
Tumor necrosis factor Cachectin; TNF-alpha; Tumor necrosis factor ligand superfamily member 2; TNF-aMus musculus (house mouse)
Voltage-dependent N-type calcium channel subunit alpha-1BBrain calcium channel III; BIII; Calcium channel, L type, alpha-1 polypeptide isoform 5; Voltage-gated calcium channel subunit alpha Cav2.2Mus musculus (house mouse)
Sodium channel protein type 1 subunit alphaSodium channel protein brain I subunit alpha; Sodium channel protein type I subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.1Mus musculus (house mouse)
Glutamate receptor ionotropic, NMDA 2AGluN2A; Glutamate [NMDA] receptor subunit epsilon-1; N-methyl D-aspartate receptor subtype 2A; NMDAR2A; NR2AMus musculus (house mouse)
Glutamate receptor 4GluR-4; GluR4; AMPA-selective glutamate receptor 4; GluR-D; Glutamate receptor ionotropic, AMPA 4; GluA4Mus musculus (house mouse)
Glutamate receptor ionotropic, NMDA 1 GluN1; Glutamate [NMDA] receptor subunit zeta-1; N-methyl-D-aspartate receptor subunit NR1; NMD-R1Mus musculus (house mouse)
Vascular endothelial growth factor receptor 2VEGFR-2; EC 2.7.10.1; Fetal liver kinase 1; FLK-1; Kinase NYK; Protein-tyrosine kinase receptor flk-1Mus musculus (house mouse)
Sodium channel subunit beta-1Mus musculus (house mouse)
Metabotropic glutamate receptor 3mGluR3Mus musculus (house mouse)
Target of rapamycin complex subunit LST8TORC subunit LST8; G protein beta subunit-like; Protein GbetaL; Mammalian lethal with SEC13 protein 8; mLST8Mus musculus (house mouse)
Sodium- and chloride-dependent GABA transporter 1GAT-1; Solute carrier family 6 member 1Mus musculus (house mouse)
RAC-alpha serine/threonine-protein kinase EC 2.7.11.1; AKT1 kinase; Protein kinase B; PKB; Protein kinase B alpha; PKB alpha; Proto-oncogene c-Akt; RAC-PK-alpha; Thymoma viral proto-oncogeneMus musculus (house mouse)
Glutamate receptor ionotropic, NMDA 2BGluN2B; Glutamate [NMDA] receptor subunit epsilon-2; N-methyl D-aspartate receptor subtype 2B; NMDAR2B; NR2BMus musculus (house mouse)
Amine oxidase [flavin-containing] BEC 1.4.3.4; Monoamine oxidase type B; MAO-BMus musculus (house mouse)
Serine/threonine-protein kinase mTOR EC 2.7.11.1; FK506-binding protein 12-rapamycin complex-associated protein 1; FKBP12-rapamycin complex-associated protein; Mammalian target of rapamycin; mTOR; Mechanistic target of rapamycin; Rapamycin target protein 1; RAPT1Mus musculus (house mouse)
Mitogen-activated protein kinase 11 MAP kinase 11; MAPK 11; EC 2.7.11.24; Mitogen-activated protein kinase p38 beta; MAP kinase p38 beta; p38BMus musculus (house mouse)
Glutamate receptor 3GluR-3; AMPA-selective glutamate receptor 3; GluR-C; GluR-K3; Glutamate receptor ionotropic, AMPA 3; GluA3Mus musculus (house mouse)
Calcium/calmodulin-dependent protein kinase type II subunit alpha CaM kinase II subunit alpha; CaMK-II subunit alpha; EC 2.7.11.17Mus musculus (house mouse)
Ras-specific guanine nucleotide-releasing factor 1Ras-GRF1; CDC25Mm; Guanine nucleotide-releasing protein; GNRP; Ras-specific nucleotide exchange factor CDC25Mus musculus (house mouse)
Nuclear factor NF-kappa-B p105 subunit DNA-binding factor KBF1; EBP-1; NF-kappa-B1 p84/NF-kappa-B1 p98; Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1Mus musculus (house mouse)
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform PI3-kinase subunit alpha; PI3K-alpha; PI3Kalpha; PtdIns-3-kinase subunit alpha; EC 2.7.1.137; EC 2.7.1.153; Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha; PtdIns-3-kinase subunit p110-alpha; p110alpha; Phosphoinositide-3-kMus musculus (house mouse)
Voltage-dependent R-type calcium channel subunit alpha-1EBrain calcium channel II; BII; Calcium channel, L type, alpha-1 polypeptide, isoform 6; Voltage-gated calcium channel subunit alpha Cav2.3Mus musculus (house mouse)
Glutamate decarboxylase 2EC 4.1.1.15; 65 kDa glutamic acid decarboxylase; GAD-65; Glutamate decarboxylase 65 kDa isoformMus musculus (house mouse)
Band 4.1-like protein 34.1B; Differentially expressed in adenocarcinoma of the lung protein 1; DAL-1; DAL1P; mDAL-1; Erythrocyte membrane protein band 4.1-like 3Mus musculus (house mouse)
Sodium-coupled neutral amino acid transporter 3N-system amino acid transporter 1; Na(+)-coupled neutral amino acid transporter 3; Solute carrier family 38 member 3; mNAT; System N amino acid transporter 1Mus musculus (house mouse)
Excitatory amino acid transporter 2GLT-1; Sodium-dependent glutamate/aspartate transporter 2; Solute carrier family 1 member 2Mus musculus (house mouse)
Fibroblast growth factor 13FGF-13; Fibroblast growth factor homologous factor 2; FHF-2Mus musculus (house mouse)
Glial fibrillary acidic proteinGFAPMus musculus (house mouse)
Glutamine synthetaseGS; EC 6.3.1.2; Glutamate--ammonia ligase; Palmitoyltransferase GLUL; 2.3.1.225Mus musculus (house mouse)
Voltage-dependent L-type calcium channel subunit beta-3CAB3; Calcium channel voltage-dependent subunit beta 3; CCHB3Mus musculus (house mouse)
Excitatory amino acid transporter 1Glial high affinity glutamate transporter; High-affinity neuronal glutamate transporter; GluT-1; Sodium-dependent glutamate/aspartate transporter 1; GLAST-1; Solute carrier family 1 member 3Mus musculus (house mouse)
Glutamate decarboxylase 1EC 4.1.1.15; 67 kDa glutamic acid decarboxylase; GAD-67; Glutamate decarboxylase 67 kDa isoformMus musculus (house mouse)
CTP synthase 2EC 6.3.4.2; CTP synthetase 2; CTPsH; UTP--ammonia ligase 2Mus musculus (house mouse)
Protein phosphatase 1 regulatory subunit 1BDARPP-32; Dopamine- and cAMP-regulated neuronal phosphoproteinMus musculus (house mouse)
Sodium channel subunit beta-3Mus musculus (house mouse)
Sodium channel protein type 3 subunit alphaSodium channel protein brain III subunit alpha; Sodium channel protein type III subunit alpha; Voltage-gated sodium channel subtype III; Voltage-gated sodium channel subunit alpha Nav1.3Mus musculus (house mouse)
Solute carrier family 2, facilitated glucose transporter member 1Glucose transporter type 1, erythrocyte/brain; GLUT-1; GT1Mus musculus (house mouse)
Proline-rich protein 5-likeProtein observed with Rictor-2; Protor-2Mus musculus (house mouse)
Chromodomain-helicase-DNA-binding protein 2CHD-2; EC 3.6.4.12; ATP-dependent helicase CHD2Mus musculus (house mouse)
Syntaxin-binding protein 1Protein unc-18 homolog 1; Unc18-1; Protein unc-18 homolog A; Unc-18AMus musculus (house mouse)
Monocarboxylate transporter 2MCT 2; Solute carrier family 16 member 7Mus musculus (house mouse)
Syntaxin-8Syntaxin-like protein 3I35Mus musculus (house mouse)
Solute carrier family 2, facilitated glucose transporter member 3Glucose transporter type 3, brain; GLUT-3Mus musculus (house mouse)
G protein-activated inward rectifier potassium channel 3GIRK-3; Inward rectifier K(+) channel Kir3.3; Potassium channel, inwardly rectifying subfamily J member 9Mus musculus (house mouse)
Monocarboxylate transporter 1MCT 1; Solute carrier family 16 member 1Mus musculus (house mouse)
Potassium voltage-gated channel subfamily A member 2MK2; Voltage-gated potassium channel subunit Kv1.2Mus musculus (house mouse)
G protein-activated inward rectifier potassium channel 1GIRK-1; Inward rectifier K(+) channel Kir3.1; Potassium channel, inwardly rectifying subfamily J member 3Mus musculus (house mouse)
Voltage-dependent P/Q-type calcium channel subunit alpha-1A Brain calcium channel I; BI; Calcium channel, L type, alpha-1 polypeptide isoform 4; Voltage-gated calcium channel subunit alpha Cav2.1Mus musculus (house mouse)
Vesicular glutamate transporter 1VGluT1; Brain-specific Na(+)-dependent inorganic phosphate cotransporter; Solute carrier family 17 member 7Mus musculus (house mouse)
Syntaxin-binding protein 3MUNC-18-3; Mammalian homolog of Unc-18c; Munc-18c; Protein unc-18 homolog 3; Unc18-3; Protein unc-18 homolog C; Unc-18CMus musculus (house mouse)
Rapamycin-insensitive companion of mTORAVO3 homolog; mAVO3; Protein pianissimoMus musculus (house mouse)
Sodium channel subunit beta-4Mus musculus (house mouse)
Gamma-aminobutyric acid type B receptor subunit 2GABA-B receptor 2; GABA-B-R2; GABA-BR2; GABABR2; Gb2; G-protein coupled receptor 51Mus musculus (house mouse)
Protocadherin-19Mus musculus (house mouse)
Proline-rich protein 5Protein observed with Rictor-1; Protor-1Mus musculus (house mouse)
Target of rapamycin complex 2 subunit MAPKAP1TORC2 subunit MAPKAP1; Mitogen-activated protein kinase 2-associated protein 1; Stress-activated map kinase-interacting protein 1; SAPK-interacting protein 1Mus musculus (house mouse)
Syntaxin-16Mus musculus (house mouse)
Voltage-dependent L-type calcium channel subunit beta-4CAB4; Calcium channel voltage-dependent subunit beta 4Mus musculus (house mouse)
Voltage-dependent L-type calcium channel subunit beta-1 CAB1; Calcium channel voltage-dependent subunit beta 1Mus musculus (house mouse)
Voltage-dependent calcium channel gamma-8 subunitNeuronal voltage-gated calcium channel gamma-8 subunit; Transmembrane AMPAR regulatory protein gamma-8; TARP gamma-8Mus musculus (house mouse)
Solute carrier family 12 member 5Electroneutral potassium-chloride cotransporter 2; K-Cl cotransporter 2; mKCC2; Neuronal K-Cl cotransporterMus musculus (house mouse)
RecName: Full=ATP-sensitive inward rectifier potassium channel 10; AltName: Full=Inward rectifier K(+) channel Kir4.1; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 10Inward rectifier K(+) channel Kir4.1; Potassium channel, inwardly rectifying subfamily J member 10Mus musculus (house mouse)
Gamma-aminobutyric acid type B receptor subunit 1GABA-B receptor 1; GABA-B-R1; GABA-BR1; GABABR1; Gb1Mus musculus (house mouse)
Voltage-dependent calcium channel subunit alpha-2/delta-3Voltage-gated calcium channel subunit alpha-2/delta-3Mus musculus (house mouse)
glutaminase Mus musculus (house mouse)

Compounds (8)

CompoundDescription
pyruvic acidAn intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures. (From Stedman, 26th ed)
gamma-aminobutyric acidThe most common inhibitory neurotransmitter in the central nervous system.
CalciumA basic element found in nearly all tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.
chlorineAn element with atomic symbol Cl, atomic number 17, and atomic weight 35, and member of the halogen family.
glutamic acidA non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM.
potassiumAn element in the alkali group of metals with an atomic symbol K, atomic number 19, and atomic weight 39.10. It is the chief cation in the intracellular fluid of muscle and other cells. Potassium ion is a strong electrolyte that plays a significant role in the regulation of fluid volume and maintenance of the WATER-ELECTROLYTE BALANCE.
SodiumA member of the alkali group of metals. It has the atomic symbol Na, atomic number 11, and atomic weight 23.
polyglutamineRN given for (D)-isomer