SCN7A

Protein identityUniProt · HPA

UniProt accession

Q01118

Gene

SCN7A

Ensembl

ENSG00000136546

Chromosome

2

Canonical length

1682 aa

Protein class

FDA approved drug targets, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane

OverviewNCBI Gene

This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

1682 residues, UniProt reviewed canonical sequence.

>Q01118|SCN7A
     1  MLASPEPKGL VPFTKESFEL IKQHIAKTHN EDHEEEDLKP TPDLEVGKKL PFIYGNLSQG
    61  MVSEPLEDVD PYYYKKKNTF IVLNKNRTIF RFNAASILCT LSPFNCIRRT TIKVLVHPFF
   121  QLFILISVLI DCVFMSLTNL PKWRPVLENT LLGIYTFEIL VKLFARGVWA GSFSFLGDPW
   181  NWLDFSVTVF EVIIRYSPLD FIPTLQTART LRILKIIPLN QGLKSLVGVL IHCLKQLIGV
   241  IILTLFFLSI FSLIGMGLFM GNLKHKCFRW PQENENETLH NRTGNPYYIR ETENFYYLEG
   301  ERYALLCGNR TDAGQCPEGY VCVKAGINPD QGFTNFDSFG WALFALFRLM AQDYPEVLYH
   361  QILYASGKVY MIFFVVVSFL FSFYMASLFL GILAMAYEEE KQRVGEISKK IEPKFQQTGK
   421  ELQEGNETDE AKTIQIEMKK RSPISTDTSL DVLEDATLRH KEELEKSKKI CPLYWYKFAK
   481  TFLIWNCSPC WLKLKEFVHR IIMAPFTDLF LIICIILNVC FLTLEHYPMS KQTNTLLNIG
   541  NLVFIGIFTA EMIFKIIAMH PYGYFQVGWN IFDSMIVFHG LIELCLANVA GMALLRLFRM
   601  LRIFKLGKYW PTFQILMWSL SNSWVALKDL VLLLFTFIFF SAAFGMKLFG KNYEEFVCHI
   661  DKDCQLPRWH MHDFFHSFLN VFRILCGEWV ETLWDCMEVA GQSWCIPFYL MVILIGNLLV
   721  LYLFLALVSS FSSCKDVTAE ENNEAKNLQL AVARIKKGIN YVLLKILCKT QNVPKDTMDH
   781  VNEVYVKEDI SDHTLSELSN TQDFLKDKEK SSGTEKNATE NESQSLIPSP SVSETVPIAS
   841  GESDIENLDN KEIQSKSGDG GSKEKIKQSS SSECSTVDIA ISEEEEMFYG GERSKHLKNG
   901  CRRGSSLGQI SGASKKGKIW QNIRKTCCKI VENNWFKCFI GLVTLLSTGT LAFEDIYMDQ
   961  RKTIKILLEY ADMIFTYIFI LEMLLKWMAY GFKAYFSNGW YRLDFVVVIV FCLSLIGKTR
  1021  EELKPLISMK FLRPLRVLSQ FERMKVVVRA LIKTTLPTLN VFLVCLMIWL IFSIMGVDLF
  1081  AGRFYECIDP TSGERFPSSE VMNKSRCESL LFNESMLWEN AKMNFDNVGN GFLSLLQVAT
  1141  FNGWITIMNS AIDSVAVNIQ PHFEVNIYMY CYFINFIIFG VFLPLSMLIT VIIDNFNKHK
  1201  IKLGGSNIFI TVKQRKQYRR LKKLMYEDSQ RPVPRPLNKL QGFIFDVVTS QAFNVIVMVL
  1261  ICFQAIAMMI DTDVQSLQMS IALYWINSIF VMLYTMECIL KLIAFRCFYF TIAWNIFDFM
  1321  VVIFSITGLC LPMTVGSYLV PPSLVQLILL SRIIHMLRLG KGPKVFHNLM LPLMLSLPAL
  1381  LNIILLIFLV MFIYAVFGMY NFAYVKKEAG INDVSNFETF GNSMLCLFQV AIFAGWDGML
  1441  DAIFNSKWSD CDPDKINPGT QVRGDCGNPS VGIFYFVSYI LISWLIIVNM YIVVVMEFLN
  1501  IASKKKNKTL SEDDFRKFFQ VWKRFDPDRT QYIDSSKLSD FAAALDPPLF MAKPNKGQLI
  1561  ALDLPMAVGD RIHCLDILLA FTKRVMGQDV RMEKVVSEIE SGFLLANPFK ITCEPITTTL
  1621  KRKQEAVSAT IIQRAYKNYR LRRNDKNTSD IHMIDGDRDV HATKEGAYFD KAKEKSPIQS
  1681  QI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SCN7A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

24

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

37 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.78

gnomAD pLI

0

gnomAD missense Z

0.41

DepMap mean gene effect

0.11

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle cell action potential involved in contraction
• cellular homeostasis
• osmosensory signaling pathway
• response to bacterium
• sodium ion homeostasis
• sodium ion transmembrane transport

Molecular functions

• osmolarity-sensing monoatomic cation channel activity
• sodium channel activity
• transmembrane transporter binding
• voltage-gated sodium channel activity

Cellular components

• glial cell projection
• plasma membrane
• voltage-gated sodium channel complex

Protein domainsUniProt · Pfam · InterPro

• Voltage gated sodium channel, alpha subunit
• Ion transport domain
• Sodium ion transport-associated domain
• Voltage-dependent channel domain superfamily
• Voltage-gated cation channel calcium and sodium
• Voltage-gated sodium channel alpha subunit, inactivation gate
• SCN5A-like, C-terminal IQ motif
• Ion transport protein
• Sodium ion transport-associated
• SCN5A-like, C-terminal IQ motif

KeywordsUniProt

• Cell membrane
• Disulfide bond
• Glycoprotein
• Membrane
• Phosphoprotein
• Repeat
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of SCN7A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP1A1