{ "uniprot_canonical_ac": "A2APX8-1", "ptm_annotation": [ { "annotation": "Phosphorylation at Ser-1516 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/P04775", "id": "P04775", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A2APX8-1|SCN1A_MOUSE Isoform 1 of Sodium channel protein type 1 subunit alpha OS=Mus musculus OX=10090 GN=Scn1a PE=1 SV=1 CANONICAL=A2APX8-1", "length": 2009, "sequence": "MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVQWPPTNASLEEHSIEKNITMDYNGTLVNETVFEFDWKSYIQDSRYHYFLEGVLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEAAQQAAATTASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDDDEFHKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHIVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEHFNHVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKDCVCKIATDCKLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGIAYVKRKIYEFIQQSFVKKQKILDEIKPLDDLNNRKDNCISNHTTEIGKDLDCLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPAEEQPVIEPEETLEPEACFTEGCVQRFKCCQISVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCVNTTTGDIFEISEVNNHSDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQSDYVTSILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKLKGGANLLVKEDMLIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK" }, "uniprot_id": "SCN1A_MOUSE", "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly", "reported_with_glycan.glyconnect" ], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15746173", "type": "PubMed", "id": "15746173" } ], "title": "Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart.", "journal": "J. Physiol. (Lond.)", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "authors": "Camacho J.A., Benndorf K., Dumaine R., Guenther B., Haufe V., Zimmer T., Bollensdorff C., von Banchet G.S.", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/1679748", "type": "PubMed", "id": "1679748" } ], "title": "Three brain sodium channel alpha-subunit genes are clustered on the proximal segment of mouse chromosome 2.", "journal": "Genomics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300926.1", "id": "NP_001300926.1", "database": "RefSeq" } ], "authors": "Malo D, Schurr E, Dorfman J, Canfield V, Levenson R, Gros P", "date": "1991" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16921370", "type": "PubMed", "id": "16921370" } ], "title": "Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.", "journal": "Nat. Neurosci.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "authors": "Catterall W.A., Scheuer T., Westenbroek R.E., McKnight G.S., Burton K.A., Mantegazza M., Yu F.H., Robbins C.A., Kalume F., Spain W.J.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17928448", "type": "PubMed", "id": "17928448" } ], "title": "Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy.", "journal": "J. Neurosci.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "authors": "Catterall W.A., Scheuer T., Westenbroek R.E., Yu F.H., Kalume F.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20100831", "type": "PubMed", "id": "20100831" } ], "title": "Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities.", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "authors": "Meisler M.H., Escayg A., Shankar A., Goldin A.L., de Haan G., Baram T.Z., Dube C.M., Dutt K., Dutton S.B., Martin M.S., Papale L.A., Tufik S.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21183079", "type": "PubMed", "id": "21183079" } ], "title": "A tissue-specific atlas of mouse protein phosphorylation and expression.", "journal": "Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2APX8", "id": "A2APX8", "database": "iPTMnet" } ], "authors": "Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22908258", "type": "PubMed", "id": "22908258" } ], "title": "Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "authors": "Catterall W.A., Westenbroek R.E., Yu F.H., Rubenstein J.L., Cheah C.S., Kalume F.K., Oakley J.C., Potter G.B.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22914087", "type": "PubMed", "id": "22914087" } ], "title": "Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.", "journal": "Nature", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "authors": "Han S., Catterall W.A., Scheuer T., Westenbroek R.E., Yu F.H., Rubenstein J.L., Cheah C.S., Potter G.B., Tai C., de la Iglesia H.O.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26694226", "type": "PubMed", "id": "26694226" } ], "title": "Scn1a dysfunction alters behavior but not the effect of stress on seizure response.", "journal": "Genes Brain Behav.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "authors": "Escayg A., Neigh G.N., Decker M.J., Helvig A.W., Makinson C.D., Sawyer N.T.", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27281198", "type": "PubMed", "id": "27281198" } ], "title": "Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain.", "journal": "Nature", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "authors": "Wang X., Zhang C., Castro J., King G.F., Gilchrist J., Basbaum A.I., Alewood P., Bosmans F., Julius D., Brierley S.M., Stucky C.L., Weyer A.D., Dekan Z., Emrick J.J., Garcia-Caraballo S., Grundy L., Herzig V., Osteen J.D., Rychkov G.Y., Undheim E.A.", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30899004", "type": "PubMed", "id": "30899004" } ], "title": "Capturing site-specific heterogeneity with large-scale N-glycoproteome analysis.", "journal": "Nature communications", "evidence": [ { "url": "https://glyconnect.expasy.org/browser/proteins/2718", "id": "2718", "database": "GlyConnect" } ], "authors": "Riley NM, Hebert AS, Westphall MS, Coon JJ", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/8062593", "type": "PubMed", "id": "8062593" } ], "title": "Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24.", "journal": "Cytogenetics and cell genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300926.1", "id": "NP_001300926.1", "database": "RefSeq" } ], "authors": "Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, Jabs EW, Korenberg JR, Ingram VM", "date": "1994" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/8169823", "type": "PubMed", "id": "8169823" } ], "title": "Quantitative trait loci mapping of genes that influence the sensitivity and tolerance to ethanol-induced hypothermia in BXD recombinant inbred mice.", "journal": "The Journal of pharmacology and experimental therapeutics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300926.1", "id": "NP_001300926.1", "database": "RefSeq" } ], "authors": "Crabbe JC, Belknap JK, Mitchell SR, Crawshaw LI", "date": "1994" } ], "uniprot_ac": "A2APX8", "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "type": "recommended", "resource": "UniProtKB", "name": "Scn1a" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2APX8", "type": "synonym", "resource": "RefSeq", "name": "B230332M13; Nav; Nav1.1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2APX8", "type": "synonym", "resource": "RefSeq", "name": "Scn1a" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2APX8#A0A0J9YUJ5-1", "isoform_ac": "A0A0J9YUJ5-1", "locus": { "end_pos": 66289027, "strand": "+", "start_pos": 66317946, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000200839", "id": "ENSMUST00000200839", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000144214", "id": "ENSMUSP00000144214", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0J9YUJ5-1|SCN1A_MOUSE Computationally mapped isoform of Sodium channel protein type 1 subunit alpha OS=Mus musculus OX=10090 GN=Scn1a PE=1 SV=1 CANONICAL=A2APX8-1", "length": 303, "sequence": "XIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPAEEQPVIEPEETLEPEACFTEGCVQRFKCCQISVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRDNLAPTWMGWSGGSSPQPFIMGGCECPVRSNSIHHECASGLPYILANFQHHGRKFVCWQILPLC" } }, { "url": "https://www.uniprot.org/uniprot/A2APX8#A0A0J9YVF2-1", "isoform_ac": "A0A0J9YVF2-1", "locus": { "end_pos": 66274045, "strand": "+", "start_pos": 66318139, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000156865", "id": "ENSMUST00000156865", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000144633", "id": "ENSMUSP00000144633", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0J9YVF2-1|SCN1A_MOUSE Computationally mapped isoform of Sodium channel protein type 1 subunit alpha OS=Mus musculus OX=10090 GN=Scn1a PE=1 SV=1 CANONICAL=A2APX8-1", "length": 502, "sequence": "EFIQQSFVKKQKILDEIKPLDDLNNRKDNCISNHTTEIGKDLDCLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPAEEQPVIEPEETLEPEACFTEGCVQRFKCCQISVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCVNTTTGDIFEISEVNNHSDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGGCFLRS" } }, { "url": "https://www.uniprot.org/uniprot/A2APX8#A2APX8-1", "isoform_ac": "A2APX8-1", "locus": { "end_pos": 66272888, "strand": "+", "start_pos": 66351177, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000112366", "id": "ENSMUST00000112366", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000107985", "id": "ENSMUSP00000107985", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2APX8-1|SCN1A_MOUSE Isoform 1 of Sodium channel protein type 1 subunit alpha OS=Mus musculus OX=10090 GN=Scn1a PE=1 SV=1 CANONICAL=A2APX8-1", "length": 2009, "sequence": "MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVQWPPTNASLEEHSIEKNITMDYNGTLVNETVFEFDWKSYIQDSRYHYFLEGVLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEAAQQAAATTASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDDDEFHKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHIVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEHFNHVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKDCVCKIATDCKLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGIAYVKRKIYEFIQQSFVKKQKILDEIKPLDDLNNRKDNCISNHTTEIGKDLDCLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPAEEQPVIEPEETLEPEACFTEGCVQRFKCCQISVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCVNTTTGDIFEISEVNNHSDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQSDYVTSILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKLKGGANLLVKEDMLIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK" } }, { "url": "https://www.uniprot.org/uniprot/A2APX8#A2APX8-2", "isoform_ac": "A2APX8-2", "locus": { "end_pos": 66272888, "strand": "+", "start_pos": 66351177, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000077489", "id": "ENSMUST00000077489", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000076697", "id": "ENSMUSP00000076697", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2APX8-2|SCN1A_MOUSE Isoform 2 of Sodium channel protein type 1 subunit alpha OS=Mus musculus OX=10090 GN=Scn1a PE=1 SV=1 CANONICAL=A2APX8-1", "length": 1998, "sequence": "MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVQWPPTNASLEEHSIEKNITMDYNGTLVNETVFEFDWKSYIQDSRYHYFLEGVLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEAAQQAAATTASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDDDEFHKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHIVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEHFNHVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKDCVCKIATDCKLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGIAYVKRKIYEFIQQSFVKKQKILDEIKPLDDLNNRKDNCISNHTTEIGKDLDCLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPAEEQPVIEPEETLEPEACFTEGCVQRFKCCQISVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCVNTTTGDIFEISEVNNHSDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQSDYVTSILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKLKGGANLLVKEDMLIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK" } }, { "url": "https://www.uniprot.org/uniprot/A2APX8#A2APX8-3", "isoform_ac": "A2APX8-3", "locus": { "end_pos": 66272888, "strand": "+", "start_pos": 66351177, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000094951", "id": "ENSMUST00000094951", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000092558", "id": "ENSMUSP00000092558", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2APX8-3|SCN1A_MOUSE Isoform 3 of Sodium channel protein type 1 subunit alpha OS=Mus musculus OX=10090 GN=Scn1a PE=1 SV=1 CANONICAL=A2APX8-1", "length": 1981, "sequence": "MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVQWPPTNASLEEHSIEKNITMDYNGTLVNETVFEFDWKSYIQDSRYHYFLEGVLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEAAQQAAATTASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDDDEFHKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHIVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEHFNHVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKDCVCKIATDCKLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGIAYVKRKIYEFIQQSFVKKQKILDEIKPLDDLNNRKDNCISNHTTEIGKDLDCLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPAEEQPVIEPEETLEPEACFTEGCVQRFKCCQISVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCVNTTTGDIFEISEVNNHSDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQSDYVTSILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKLKGGANLLVKEDMLIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK" } }, { "url": "https://www.uniprot.org/uniprot/A2APX8#A2APX9-1", "isoform_ac": "A2APX9-1", "locus": { "end_pos": 66326064, "strand": "+", "start_pos": 66351177, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000138910", "id": "ENSMUST00000138910", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000116881", "id": "ENSMUSP00000116881", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2APX9-1|A2APX9_MOUSE Computationally mapped isoform of Sodium channel protein type 1 subunit alpha OS=Mus musculus OX=10090 GN=Scn1a PE=1 SV=6 CANONICAL=A2APX8-1", "length": 500, "sequence": "MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVQWPPTNASLEEHSIEKNITMDYNGTLVNETVFEFDWKSYIQDSRYHYFLEGVLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEAAQQAAATTASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNR" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:20265", "resource": "KEGG Pathway", "id": "mmu:20265", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5576892", "description": "Phase 0 - rapid depolarisation", "resource": "Reactome", "id": "R-MMU-5576892", "name": "Phase 0 - rapid depolarisation" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A2APX8#function", "annotation": "Mediates the voltage-dependent sodium ion permeability of excitable membranes (PubMed:16921370, PubMed:17928448, PubMed:27281198). Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons (PubMed:16921370, PubMed:22914087). Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli (PubMed:27281198).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8#function", "id": "A2APX8", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "P04774-1", "protein_name": "Sodium channel protein type 1 subunit alpha", "sequence": { "length": 2009, "sequence": "MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVQWPPTNASLEEHSIEKNVTTDYNGTLVNETVFEFDWKSYIQDSRYHYFLEGVLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEAAQQAAAATASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDDDEFHKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAGLPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHIVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEHFNHVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKDCVCKIATDCKLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIRNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGVAYVKRKIYEFIQQSFVRKQKILDEIKPLDDLNNRKDNCTSNHTTEIGKDLDCLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPAEEQPVMEPEETLEPEACFTEGCVQRFKCCQISVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCVNTTTGDTFEITEVNNHSDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQSDYVTSILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKLKGGANLLVKEDMIIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/21375", "id": "21375", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Scn1a", "tax_id": 10116 }, { "uniprot_canonical_ac": "P35498-1", "protein_name": "Sodium channel protein type 1 subunit alpha", "sequence": { "length": 2009, "sequence": "MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNYNGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTTTGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/21375", "id": "21375", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "SCN1A", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NSS).", "alt_nt": "null", "chr_id": "2", "ref_nt": "C", "chr_pos": "66324752T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27986089", "id": "rs27986089", "database": "dbSNP" }, { "url": "https://www.ensembl.org/id/rs27986089", "id": "rs27986089", "database": "ENSEMBL" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_mut": "S", "start_pos": 621, "keywords": [ "ebi", "germline" ], "end_pos": 621, "minor_allelic_frequency": "" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300926.1", "ac": "NP_001300926.1", "name": "sodium channel protein type 1 subunit alpha isoform 1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005248", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "voltage-gated sodium channel activity", "id": "GO:0005248" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "cation channel activity", "id": "GO:0005261" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005248", "pmid": "27281198", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "voltage-gated sodium channel activity", "id": "GO:0005248" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005244", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "voltage-gated ion channel activity", "id": "GO:0005244" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031402", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "sodium ion binding", "id": "GO:0031402" } ], "total": 5, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001518", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "voltage-gated sodium channel complex", "id": "GO:0001518" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "pmid": "17537961", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "pmid": "10827969", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "pmid": "17537961", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "axon", "id": "GO:0030424" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "pmid": "17928448", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "axon", "id": "GO:0030424" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "pmid": "17537961", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "name": "neuronal cell body", "id": "GO:0043025" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", 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EIEE6", "id": "MONDO:0011794" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011794", "resource": "MONDO", "description": "", "name": "severe myoclonic epilepsy of infancy", "id": "MONDO:0011794" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011794", "resource": "MONDO", "description": "", "name": "Dravet syndrome", "id": "MONDO:0011794" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011794", "resource": "MONDO", "description": "", "name": "severe myoclonus epilepsy of infancy", "id": "MONDO:0011794" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011794", "resource": "MONDO", "description": "", "name": "epileptic encephalopathy, early infantile, 6", "id": "MONDO:0011794" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011794", "resource": "MONDO", "description": "", "name": "EIEE6", "id": "MONDO:0011794" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011794", "resource": "MONDO", "description": "", "name": "SME", "id": "MONDO:0011794" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011794", "resource": "MONDO", "description": "", "name": "DS", "id": "MONDO:0011794" }, { "url": "https://www.omim.org/entry/607208", "resource": "MIM", "description": "Epileptic encephalopathy, early infantile, 6", "name": "Epileptic encephalopathy, early infantile, 6", "id": "MIM:607208" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0080422", "resource": "Disease Ontology", "description": "An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.", "name": "Dravet syndrome", "id": "DOID:0080422" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0080422#disease-associations", "id": "0080422", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:0111183", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0111183", "resource": "Disease Ontology", "description": "", "name": "MHP3", "id": "DOID:0111183" }, { "url": "http://disease-ontology.org/term/DOID:0111183", "resource": "Disease Ontology", "description": "", "name": "FHM3", "id": "DOID:0111183" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012320", "resource": "MONDO", "description": "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.", "name": "migraine, familial hemiplegic, 3", "id": "MONDO:0012320" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012320", "resource": "MONDO", "description": "", "name": "familial or sporadic hemiplegic migraine caused by mutation in SCN1A", "id": "MONDO:0012320" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012320", "resource": "MONDO", "description": "", "name": "migraine, familial hemiplegic, type 3", "id": "MONDO:0012320" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012320", "resource": "MONDO", "description": "", "name": "migraine, familial hemiplegic, 3", "id": "MONDO:0012320" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012320", "resource": "MONDO", "description": "", "name": "migraine, familial hemiplegic, 3; FHM3", "id": "MONDO:0012320" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012320", "resource": "MONDO", "description": "", "name": "FHM3", "id": "MONDO:0012320" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012320", "resource": "MONDO", "description": "", "name": "SCN1A familial or sporadic hemiplegic migraine", "id": "MONDO:0012320" }, { "url": "https://www.omim.org/entry/609634", "resource": "MIM", "description": "Migraine, familial hemiplegic, 3", "name": "Migraine, familial hemiplegic, 3", "id": "MIM:609634" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0111183", "resource": "Disease Ontology", "description": "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3.", "name": "familial hemiplegic migraine 3", "id": "DOID:0111183" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0111183#disease-associations", "id": "0111183", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:0111294", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0111294", "resource": "Disease Ontology", "description": "", "name": "generalised epilepsy with febrile seizures plus 2", "id": "DOID:0111294" }, { "url": "http://disease-ontology.org/term/DOID:0111294", "resource": "Disease Ontology", "description": "", "name": "generalized epilepsy with febrile seizures plus type 2", "id": "DOID:0111294" }, { "url": "http://disease-ontology.org/term/DOID:0111294", "resource": "Disease Ontology", "description": "", "name": "GEFS+2", "id": "DOID:0111294" }, { "url": "http://disease-ontology.org/term/DOID:0111294", "resource": "Disease Ontology", "description": "", "name": "generalised epilepsy with febrile seizures plus type 2", "id": "DOID:0111294" }, { "url": "http://disease-ontology.org/term/DOID:0111294", "resource": "Disease Ontology", "description": "", "name": "GEFSP2", "id": "DOID:0111294" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011461", "resource": "MONDO", "description": "Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.", "name": "generalized epilepsy with febrile seizures plus, type 2", "id": "MONDO:0011461" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011461", "resource": "MONDO", "description": "", "name": "generalized epilepsy with febrile seizures plus, type 2", "id": "MONDO:0011461" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011461", "resource": "MONDO", "description": "", "name": "febrile seizures, familial caused by mutation in SCN1A", "id": "MONDO:0011461" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011461", "resource": "MONDO", "description": "", "name": "generalized epilepsy with febrile seizures plus, type 2; GEFSP2", "id": "MONDO:0011461" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011461", "resource": "MONDO", "description": "", "name": "febrile seizures, familial, 3A", "id": "MONDO:0011461" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011461", "resource": "MONDO", "description": "", "name": "SCN1A febrile seizures, familial", "id": "MONDO:0011461" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011461", "resource": "MONDO", "description": "", "name": "Gefs+, type 2", "id": "MONDO:0011461" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011461", "resource": "MONDO", "description": "", "name": "GEFSP2", "id": "MONDO:0011461" }, { "url": "https://www.omim.org/entry/604403", "resource": "MIM", "description": "Febrile seizures, familial, 3A", "name": "Febrile seizures, familial, 3A", "id": "MIM:604403" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0111294", "resource": "Disease Ontology", "description": "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3.", "name": "generalized epilepsy with febrile seizures plus 2", "id": "DOID:0111294" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0111294#disease-associations", "id": "0111294", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:1826", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1826", "resource": "Disease Ontology", "description": "", "name": "epilepsy syndrome", "id": "DOID:1826" }, { "url": "http://disease-ontology.org/term/DOID:1826", "resource": "Disease Ontology", "description": "", "name": "epileptic syndrome", "id": "DOID:1826" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1826", "resource": "Disease Ontology", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "name": "epilepsy", "id": "DOID:1826" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1826#disease-associations", "id": "1826", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:2030", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2030", "resource": "Disease Ontology", "description": "", "name": "anxiety", "id": "DOID:2030" }, { "url": "http://disease-ontology.org/term/DOID:2030", "resource": "Disease Ontology", "description": "", "name": "anxiety state", "id": "DOID:2030" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011918", "resource": "MONDO", "description": "", "name": "anxiety", "id": "MONDO:0011918" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011918", "resource": "MONDO", "description": "", "name": "anxiety", "id": "MONDO:0011918" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011918", "resource": "MONDO", "description": "", "name": "harm avoidance", "id": "MONDO:0011918" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2030", "resource": "Disease Ontology", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "name": "anxiety disorder", "id": "DOID:2030" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/2030#disease-associations", "id": "2030", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [ { "residue": "Ser", "comment": "Phosphoserine; by PKC", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "start_pos": 1516, "end_pos": 1516, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "start_pos": 470, "end_pos": 470, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "start_pos": 523, "end_pos": 523, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "start_pos": 525, "end_pos": 525, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "start_pos": 550, "end_pos": 550, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "Atxn7l3b", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2APX8", "id": "A2APX8", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21183079", "id": "21183079", "database": "PubMed" } ], "start_pos": 551, "end_pos": 551, "kinase_uniprot_canonical_ac": "Q3UD01-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21183079", "id": "21183079", "database": "PubMed" } ], "start_pos": 551, "end_pos": 551, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "start_pos": 607, "end_pos": 607, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "id": "A2APX8", "database": "UniProtKB" } ], "start_pos": 730, "end_pos": 730, "kinase_uniprot_canonical_ac": "" } ], "mass": { "monoisotopic_mass": 228800.0, "chemical_mass": 228800.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2APX8", "name": "Scn1a", "locus": { "end_pos": 66270778, "strand": "-", "start_pos": 66440840, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000064329", "id": "ENSMUSG00000064329", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2APX8#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Sodium channel protein type 1 subunit alpha" }, { "url": "https://www.uniprot.org/uniprot/A2APX8#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Sodium channel protein brain I subunit alpha" }, { "url": "https://www.uniprot.org/uniprot/A2APX8#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Sodium channel protein type 1 subunit alpha" }, { "url": "https://www.uniprot.org/uniprot/A2APX8#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Sodium channel protein type I subunit alpha" }, { "url": "https://www.uniprot.org/uniprot/A2APX8#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Voltage-gated sodium channel subunit alpha Nav1.1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2APX8", "type": "synonym", "resource": "RefSeq", "name": "sodium channel protein type 1 subunit alpha isoform 1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2APX8", "type": "synonym", "resource": "RefSeq", "name": "sodium channel protein type I subunit alpha; sodium channel protein brain I subunit alpha; voltage-gated sodium channel subunit alpha Nav1.1; sodium channel protein type 1 subunit alpha" } ] }