SCN3A
entrez
6328
canonical
uniprot
Q9NY46
canonical
ensembl
ENSG00000153253
resolver
ensp
ENSP00000283254
resolver
ensp
ENSP00000386726
resolver
ensp
ENSP00000403348
resolver
ensp
ENSP00000492251
resolver
ensp
ENSP00000492807
resolver
ensp
ENSP00000499420
resolver
ensp
ENSP00000516211
resolver
enst
ENST00000668657
resolver
enst
ENST00000706067
resolver
genesymbol
SCN3A
resolver
genesymbol_syn
KIAA1356
resolver
genesymbol_syn
NAC3
resolver
hgnc
HGNC:10590
resolver
uniprot
A0A590UJH3
resolver
uniprot
A0A994J5P2
resolver
uniprot
Q16142
resolver
uniprot
Q53SX0
resolver
uniprot
Q9BZB3
resolver
uniprot
Q9C006
resolver
uniprot
Q9C007
resolver
uniprot
Q9NYK2
resolver
uniprot
Q9P2J1
resolver
uniprot
Q9UPD1
resolver
uniprot
Q9Y6P4
resolver
uniprot_entry
A0A590UJH3_HUMAN
resolver
uniprot_entry
A0A994J5P2_HUMAN
resolver
uniprot_entry
Q9C007_HUMAN
resolver
uniprot_entry
SCN3A_HUMAN
resolver
uniprot_sec
Q16142
resolver
uniprot_sec
Q53SX0
resolver
uniprot_sec
Q9BZB3
resolver
uniprot_sec
Q9C006
resolver
uniprot_sec
Q9NYK2
resolver
uniprot_sec
Q9P2J1
resolver
uniprot_sec
Q9UPD1
resolver
uniprot_sec
Q9Y6P4
resolver
amino_acid_sequence
MAQALLVPPGPESFRLFTRESLAAIEKRAAEEKAKKPKKEQDNDDENKPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVMNKGKAIFRFSATSALYILTPLNPVRKIAIKILVHSLFSMLIMCTILTNCVFMTLSNPPDWTKNVEYTFTGIYTFESLIKILARGFCLEDFTFLRDPWNWLDFSVIVMAYVTEFVSLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPSDSAFETNTTSYFNGTMDSNGTFVNVTMSTFNWKDYIGDDSHFYVLDGQKDPLLCGNGSDAGQCPEGYICVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAVAAASAASRDFSGIGGLGELLESSSEASKLSSKSAKEWRNRRKKRRQREHLEGNNKGERDSFPKSESEDSVKRSSFLFSMDGNRLTSDKKFCSPHQSLLSIRGSLFSPRRNSKTSIFSFRGRAKDVGSENDFADDEHSTFEDSESRRDSLFVPHRHGERRNSNVSQASMSSRMVPGLPANGKMHSTVDCNGVVSLVGGPSALTSPTGQLPPEGTTTETEVRKRRLSSYQISMEMLEDSSGRQRAVSIASILTNTMEELEESRQKCPPCWYRFANVFLIWDCCDAWLKVKHLVNLIVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLTVGNLVFTGIFTAEMVLKIIAMDPYYYFQEGWNIFDGIIVSLSLMELGLSNVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKINDDCTLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCLIVFMLVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDYVKNKMRECFQKAFFRKPKVIEIHEGNKIDSCMSNNTGIEISKELNYLRDGNGTTSGVGTGSSVEKYVIDENDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESELEESKEKLNATSSSEGSTVDVVLPREGEQAETEPEEDLKPEACFTEGCIKKFPFCQVSTEEGKGKIWWNLRKTCYSIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGFQTYFTNAWCWLDFLIVDVSLVSLVANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCVNMTTGNMFDISDVNNLSDCQALGKQARWKNVKVNFDNVGAGYLALLQVATFKGWMDIMYAAVDSRDVKLQPVYEENLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPANKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQGKYMTLVLSRINLVFIVLFTGEFVLKLVSLRHYYFTIGWNIFDFVVVILSIVGMFLAEMIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKKEAGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSAPPDCDPDTIHPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFIEFSKLSDFAAALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEDRFMASNPSKVSYEPITTTLKRKQEEVSAAIIQRNFRCYLLKQRLKNISSNYNKEAIKGRIDLPIKQDMIIDKLNGNSTPEKTDGSSSTTSPPSYDSVTKPDKEKFEKDKPEKESKGKEVRENQK
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935]: An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. FFEVF4 is characterized by onset of focal seizures in the first years of life. {ECO:0000269|PubMed:24157691, ECO:0000269|PubMed:28235671}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 62 (DEE62) [MIM:617938]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE62 is characterized by onset of seizures in the first year of life. {ECO:0000269|PubMed:29466837}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Pore-forming subunit of Nav1.3, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:24157691, PubMed:28235671, PubMed:29466837, PubMed:35277491). In some secretory cell types, it also participates in cell excitability through membrane depolarization and regulates cells responsiveness to stimuli triggering secretion. For instance, it controls the release of serotonin/5-hydroxytryptamine by enterochromaffin cells and is required for both glucagon- and glucose-induced insulin secretion in pancreatic endocrine cells (By similarity). {ECO:0000250|UniProtKB:A2ASI5, ECO:0000269|PubMed:24157691, ECO:0000269|PubMed:28235671, ECO:0000269|PubMed:29466837, ECO:0000269|PubMed:35277491}.
uniprot
proteins
mass_dalton
226294
uniprot
proteins
mutagenesis
MUTAGEN 1970; /note="Y->A: Abolishes interaction with NEDD4L."; /evidence="ECO:0000269|PubMed:15548568
uniprot
proteins
post_translational_modification
PTM: May be ubiquitinated by NEDD4L; which would promote its endocytosis. {ECO:0000269|PubMed:15548568}.; PTM: Phosphorylation at Ser-1501 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO:0000250|UniProtKB:Q14524}.
uniprot
proteins
protein_family
Nav1.3/SCN3A subfamily
uniprot
proteins
protein_family
Sodium channel (TC 1.A.1.10) family
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
11245985
uniprot
proteins
pubmed
12610651
uniprot
proteins
pubmed
15548568
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
24157691
uniprot
proteins
pubmed
24497506
uniprot
proteins
pubmed
26566883
uniprot
proteins
pubmed
28235671
uniprot
proteins
pubmed
29142310
uniprot
proteins
pubmed
29466837
uniprot
proteins
pubmed
35277491
uniprot
proteins
pubmed
8159690
uniprot
proteins
pubmed
9589372
uniprot
proteins
sequence_length
2000
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28235671, ECO:0000269|PubMed:35277491}; Multi-pass membrane protein {ECO:0000269|PubMed:35277491}. Basal cell membrane {ECO:0000250|UniProtKB:A2ASI5}; Multi-pass membrane protein {ECO:0000269|PubMed:35277491}. Note=In enterochromaffin cells, localized highly asymmetrically, almost exclusively at the basal side. {ECO:0000250|UniProtKB:A2ASI5}.
uniprot
proteins
transmembrane_region
TRANSMEM 129..146; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 153..174; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 189..206; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 214..235; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 250..269; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 398..424; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 762..779; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 788..812; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 823..842; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 847..865; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 884..904; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 957..983; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1206..1226; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1239..1260; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1267..1292; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1302..1320; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1334..1356; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1443..1468; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1527..1545; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1554..1577; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1588..1605; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1618..1640; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1654..1677; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77"; TRANSMEM 1745..1770; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000305|PubMed:35277491, ECO:0007744|PDB:7W77
uniprot
proteins