SCN7A
entrez
6332
canonical
uniprot
Q01118
canonical
ensembl
ENSG00000136546
resolver
ensp
ENSP00000403846
resolver
ensp
ENSP00000496114
resolver
ensp
ENSP00000631780
resolver
ensp
ENSP00000631781
resolver
ensp
ENSP00000631782
resolver
enst
ENST00000441411
resolver
enst
ENST00000643258
resolver
enst
ENST00000961721
resolver
enst
ENST00000961722
resolver
enst
ENST00000961723
resolver
genesymbol
SCN7A
resolver
genesymbol_syn
SCN6A
resolver
hgnc
HGNC:10594
resolver
uniprot_entry
SCN7A_HUMAN
resolver
amino_acid_sequence
MLASPEPKGLVPFTKESFELIKQHIAKTHNEDHEEEDLKPTPDLEVGKKLPFIYGNLSQGMVSEPLEDVDPYYYKKKNTFIVLNKNRTIFRFNAASILCTLSPFNCIRRTTIKVLVHPFFQLFILISVLIDCVFMSLTNLPKWRPVLENTLLGIYTFEILVKLFARGVWAGSFSFLGDPWNWLDFSVTVFEVIIRYSPLDFIPTLQTARTLRILKIIPLNQGLKSLVGVLIHCLKQLIGVIILTLFFLSIFSLIGMGLFMGNLKHKCFRWPQENENETLHNRTGNPYYIRETENFYYLEGERYALLCGNRTDAGQCPEGYVCVKAGINPDQGFTNFDSFGWALFALFRLMAQDYPEVLYHQILYASGKVYMIFFVVVSFLFSFYMASLFLGILAMAYEEEKQRVGEISKKIEPKFQQTGKELQEGNETDEAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAKTFLIWNCSPCWLKLKEFVHRIIMAPFTDLFLIICIILNVCFLTLEHYPMSKQTNTLLNIGNLVFIGIFTAEMIFKIIAMHPYGYFQVGWNIFDSMIVFHGLIELCLANVAGMALLRLFRMLRIFKLGKYWPTFQILMWSLSNSWVALKDLVLLLFTFIFFSAAFGMKLFGKNYEEFVCHIDKDCQLPRWHMHDFFHSFLNVFRILCGEWVETLWDCMEVAGQSWCIPFYLMVILIGNLLVLYLFLALVSSFSSCKDVTAEENNEAKNLQLAVARIKKGINYVLLKILCKTQNVPKDTMDHVNEVYVKEDISDHTLSELSNTQDFLKDKEKSSGTEKNATENESQSLIPSPSVSETVPIASGESDIENLDNKEIQSKSGDGGSKEKIKQSSSSECSTVDIAISEEEEMFYGGERSKHLKNGCRRGSSLGQISGASKKGKIWQNIRKTCCKIVENNWFKCFIGLVTLLSTGTLAFEDIYMDQRKTIKILLEYADMIFTYIFILEMLLKWMAYGFKAYFSNGWYRLDFVVVIVFCLSLIGKTREELKPLISMKFLRPLRVLSQFERMKVVVRALIKTTLPTLNVFLVCLMIWLIFSIMGVDLFAGRFYECIDPTSGERFPSSEVMNKSRCESLLFNESMLWENAKMNFDNVGNGFLSLLQVATFNGWITIMNSAIDSVAVNIQPHFEVNIYMYCYFINFIIFGVFLPLSMLITVIIDNFNKHKIKLGGSNIFITVKQRKQYRRLKKLMYEDSQRPVPRPLNKLQGFIFDVVTSQAFNVIVMVLICFQAIAMMIDTDVQSLQMSIALYWINSIFVMLYTMECILKLIAFRCFYFTIAWNIFDFMVVIFSITGLCLPMTVGSYLVPPSLVQLILLSRIIHMLRLGKGPKVFHNLMLPLMLSLPALLNIILLIFLVMFIYAVFGMYNFAYVKKEAGINDVSNFETFGNSMLCLFQVAIFAGWDGMLDAIFNSKWSDCDPDKINPGTQVRGDCGNPSVGIFYFVSYILISWLIIVNMYIVVVMEFLNIASKKKNKTLSEDDFRKFFQVWKRFDPDRTQYIDSSKLSDFAAALDPPLFMAKPNKGQLIALDLPMAVGDRIHCLDILLAFTKRVMGQDVRMEKVVSEIESGFLLANPFKITCEPITTTLKRKQEAVSATIIQRAYKNYRLRRNDKNTSDIHMIDGDRDVHATKEGAYFDKAKEKSPIQSQI
uniprot
proteins
function
FUNCTION: Sodium leak channel functioning as an osmosensor regulating sodium ion levels in various tissues and organs. While most sodium channels are voltage-gated, SCN7A is not and lets sodium flow through membrane along its concentration gradient (PubMed:26537257, PubMed:35301303). In glial cells of the central nervous system, senses body-fluid sodium levels and controls salt intake behavior as well as voluntary water intake through activation of nearby neurons to maintain appropriate sodium levels in the body (By similarity). By mediating sodium influx into keratinocytes, also plays a role in skin barrier homeostasis (PubMed:26537257). {ECO:0000250|UniProtKB:B1AYL1, ECO:0000269|PubMed:26537257, ECO:0000269|PubMed:35301303}.
uniprot
proteins
mass_dalton
193493
uniprot
proteins
mutagenesis
MUTAGEN 724; /note="F->E: Increased non-selective monoatomic cation leak channel activity; when associated with T-1189 and T-1492."; /evidence="ECO:0000269|PubMed:35301303"; MUTAGEN 724; /note="F->Q: Increased non-selective monoatomic cation leak channel activity; when associated with T-1189 and T-1492."; /evidence="ECO:0000269|PubMed:35301303"; MUTAGEN 1189; /note="I->E: Increased non-selective monoatomic cation leak channel activity; when associated with Q-724 and T-1492."; /evidence="ECO:0000269|PubMed:35301303"; MUTAGEN 1189; /note="I->T: Increased non-selective monoatomic cation leak channel activity; when associated with Q-724 and T-1492."; /evidence="ECO:0000269|PubMed:35301303"; MUTAGEN 1492; /note="I->E: Increased non-selective monoatomic cation leak channel activity; when associated with Q-724 and T-1189."; /evidence="ECO:0000269|PubMed:35301303"; MUTAGEN 1492; /note="I->T: Increased non-selective monoatomic cation leak channel activity; when associated with Q-724 and T-1189."; /evidence="ECO:0000269|PubMed:35301303
uniprot
proteins
protein_family
SCN7A subfamily
uniprot
proteins
protein_family
Sodium channel (TC 1.A.1.10) family
uniprot
proteins
pubmed
1317577
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26537257
uniprot
proteins
pubmed
35301303
uniprot
proteins
sequence_length
1682
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:35301303}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 118..137; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 142..167; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 179..196; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 201..219; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 238..259; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 368..407; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 506..521; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 531..559; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 569..586; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 593..609; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 627..655; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 702..732; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 935..953; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 962..990; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 999..1020; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 1022..1040; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 1056..1080; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 1168..1202; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 1251..1272; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 1277..1305; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 1313..1338; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 1342..1362; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 1378..1402; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9"; TRANSMEM 1469..1504; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000269|PubMed:35301303, ECO:0007744|PDB:7TJ8, ECO:0007744|PDB:7TJ9
uniprot
proteins