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Protein Page:
SCN9A (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
SCN9A Mediates the voltage-dependent sodium ion permeability of excitable membranes. 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. It is a tetrodotoxin-sensitive Na(+) channel isoform. Plays a role in pain mechanisms, especially in the development of inflammatory pain. Defects in SCN9A are the cause of primary erythermalgia (PERYTHM). It is an autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands. Defects in SCN9A are the cause of congenital indifference to pain autosomal recessive (CIPAR); also known as channelopathy-associated insensitivity to pain. A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating. Defects in SCN9A are a cause of paroxysmal extreme pain disorder (PEPD); previously known as familial rectal pain (FRP). PEPD is an autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing. Defects in SCN9A are a cause of generalized epilepsy with febrile seizures plus type 7 (GEFS+7). GEFS+7 is a rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Defects in SCN9A are the cause of familial febrile convulsions type 3B (FEB3B). FEB3B consists of seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.7/SCN9A subfamily. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, multi-pass; Channel, sodium; Membrane protein, integral
Cellular Component: voltage-gated sodium channel complex; plasma membrane
Molecular Function: sodium ion binding; voltage-gated sodium channel activity
Biological Process: behavioral response to pain; response to toxin; sodium ion transport; generation of action potential; inflammatory response; post-embryonic development
Reference #:  Q15858 (UniProtKB)
Alt. Names/Synonyms: ETHA; FEB3B; hNE-Na; Nav1.7; NE-NA; NENA; Neuroendocrine sodium channel; Peripheral sodium channel 1; PN1; SCN9A; Sodium channel protein type 9 subunit alpha; Sodium channel protein type IX subunit alpha; sodium channel, voltage-gated, type IX, alpha polypeptide; sodium channel, voltage-gated, type IX, alpha subunit; voltage-gated sodium channel alpha subunit Nav1.7; Voltage-gated sodium channel subunit alpha Nav1.7
Gene Symbols: SCN9A
Molecular weight: 226,372 Da
Basal Isoelectric point: 6.55  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
Select Structure to View Below

SCN9A

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 1 K36-ub ERKSKEPkEEkKDDD
0 1 K39-ub SKEPkEEkKDDDEEA
0 1 - gap
0 1 Y302 SEEDFRKYFYYLEGS
0 1 Y304 EDFRKYFYYLEGSKD
0 1 Y305 DFRKYFYYLEGSKDA
0 1 S309 YFYYLEGSKDALLCG
0 1 S453-p EYTSIRRsRIMGLsE
0 1 S459-p RsRIMGLsESSSETS
0 1 K483-ac RRNRRKKkNQKKLSS
0 1 K494-ac KLSSGEEkGDAEKLS
0 1 S503 DAEKLSKSESEDSIR
0 1 S505 EKLSKSESEDSIRRK
0 1 T531-p AHEKRLStPNQsPLs
0 1 S535-p RLStPNQsPLsIRGs
0 1 S538-p tPNQsPLsIRGsLFs
0 1 S542-p sPLsIRGsLFsARRS
0 1 S545-p sIRGsLFsARRSSRT
0 1 T552 sARRSSRTSLFSFKG
0 6 S635 VSLVDGRSALMLPNG
0 1 C670 QIHKKRRCSSYLLSE
0 1 S671 IHKKRRCSSYLLSED
0 1 S672 HKKRRCSSYLLSEDM
0 1 S676 RCSSYLLSEDMLNDP
0 2 S691-p NLRQRAMsRASILTN
0 1 S694 QRAMsRASILTNTVE
0 1 K1034-ac AEDLNTKkENYISNH
0 1 T1234-p EYADKIFtYIFILEM
0 1 Y1413-p KGWTIIMyAAVDsVN
0 1 S1418-p IMyAAVDsVNVDKQP
0 1 K1480-ac FMTEEQKkYYNAMKK
0 1 S1950-p PEKTDATsSTTSPPS
0 1 K1981-ac TEKEDKGkDSKESKK
  SCN9A iso3  
K36 ERKSKEPKEEKKDDD
K39 SKEPKEEKKDDDEEA
- gap
Y302 SEEDFRKYFYYLEGS
Y304 EDFRKYFYYLEGSKD
Y305 DFRKYFYYLEGSKDA
S309 YFYYLEGSKDALLCG
S453 EYTSIRRSRIMGLSE
S459 RSRIMGLSESSSETS
K483 RRNRRKKKNQKKLSS
K494 KLSSGEEKGDAEKLS
S503 DAEKLSKSESEDSIR
S505 EKLSKSESEDSIRRK
T531 AHEKRLSTPNQSPLS
S535 RLSTPNQSPLSIRGS
S538 TPNQSPLSIRGSLFS
S542 SPLSIRGSLFSARRS
S545 SIRGSLFSARRSSRT
T552 SARRSSRTSLFSFKG
S635-p VSLVDGRsALMLPNG
C659 QIHKKRRCSSYLLSE
S660 IHKKRRCSSYLLSED
S661 HKKRRCSSYLLSEDM
S665 RCSSYLLSEDMLNDP
S680 NLRQRAMSRASILTN
S683 QRAMSRASILTNTVE
K1023 AEDLNTKKENYISNH
T1223 EYADKIFTYIFILEM
Y1402 KGWTIIMYAAVDSVN
S1407 IMYAAVDSVNVDKQP
K1469 FMTEEQKKYYNAMKK
S1939 PEKTDATSSTTSPPS
K1970 TEKEDKGKDSKESKK
  mouse

► Hide Isoforms
 
K36 EEKAKGHKDEKKDDE
K39 AKGHKDEKKDDEEEG
- gap
Y302 SEEELKRYFYYLEGS
Y304 EELKRYFYYLEGSKD
Y305 ELKRYFYYLEGSKDA
S309 YFYYLEGSKDALLCG
S453 EYTSLGRSRIMGLSE
S459 RSRIMGLSESSSETS
K483 RRNRRKKKKQKLSSG
K493 KLSSGEEKGDDEKLS
S502-p DDEKLSKsGsEESIR
S504-p EKLSKsGsEESIRKK
T530 AREKRLSTPNQSPLS
S534 RLSTPNQSPLSIRGS
S537 TPNQSPLSIRGSLFS
S541 SPLSIRGSLFSARRS
S544 SIRGSLFSARRSSRt
T551-p SARRSSRtSLFSFKG
S634 VSLVDGPSALMLPNG
S669-p QMRKKRLsssYFLsE
S670-p MRKKRLsssYFLsED
S671-p RKKRLsssYFLsEDM
S675-p LsssYFLsEDMLNDP
S690-p HLRQRAMsRAsILTN
S693-p QRAMsRAsILTNTVE
R1033 TADPNNKRENYISNR
T1232 EYADKIFTYIFILEM
Y1411 KGWMDIMYAAVDSVN
S1416 IMYAAVDSVNVNAQP
K1478 FMTEEQKKYYNAMKK
A1948 PEKTDATASTISPPS
K1979 TEKEDKEKDESRK__
  SCN9A iso2  
K36 EEKAKGHKDEKKDDE
K39 AKGHKDEKKDDEEEG
T301-p QRKCKVKtMGyFyyL
Y304-p CKVKtMGyFyyLEGs
Y306-p VKtMGyFyyLEGsKD
Y307-p KtMGyFyyLEGsKDA
S311-p yFyyLEGsKDALLCG
Q455 TKAKQVGQRIMGLSE
S461 GQRIMGLSESSSETS
K485 RRNRRKKKKQKLSSG
K495 KLSSGEEKGDDEKLS
S504 DDEKLSKSGSEESIR
S506 EKLSKSGSEESIRKK
T532 AREKRLSTPNQSPLS
S536 RLSTPNQSPLSIRGS
S539 TPNQSPLSIRGSLFS
S543 SPLSIRGSLFSARRS
S546 SIRGSLFSARRSSRT
T553 SARRSSRTSLFSFKG
S636 VSLVDGPSALMLPNG
S660 QMRKKRLSSSYFLSE
S661 MRKKRLSSSYFLSED
S662 RKKRLSSSYFLSEDM
S666 LSSSYFLSEDMLNDP
S681 HLRQRAMSRASILTN
S684 QRAMSRASILTNTVE
R1024 TADPNNKRENYISNR
T1223 EYADKIFTYIFILEM
Y1402 KGWMDIMYAAVDSVN
S1407 IMYAAVDSVNVNAQP
K1469 FMTEEQKKYYNAMKK
A1939 PEKTDATASTISPPS
K1970 TEKEDKEKDESRK__
  rat

 
K36 EEkAkEHKDEKKDDE
K39 AkEHKDEKKDDEEEG
- gap
Y302 SEEELKKYFYYLEGS
Y304 EELKKYFYYLEGSKD
Y305 ELKKYFYYLEGSKDA
S309 YFYYLEGSKDALLCG
S453 EFTSIGRSRIMGLSE
S459 RSRIMGLSESSSETS
K483 RRNRRKKKKQKMSSG
K493 KMSSGEEKGDDEKLS
S502 DDEKLSKSGSEESIR
S504 EKLSKSGSEESIRKK
T530 TREKRLSTPNQSPLS
S534 RLSTPNQSPLSIRGS
S537 TPNQSPLSIRGSLFS
S541 SPLSIRGSLFSARRS
S544 SIRGSLFSARRSSRT
T551 SARRSSRTSLFSFKG
S634 VSLVDGPSALMLPNG
S669 QMRKKRLSSSYFLSE
S670 MRKKRLSSSYFLSED
S671 RKKRLSSSYFLSEDM
S675 LSSSYFLSEDMLNDP
S690 HLRQRAMSRASILTN
S693 QRAMSRASILTNTVE
K1033 TADPNNKKENYISNR
T1232 EYADKIFTYIFILEM
Y1411 KGWMDIMYAAVDSVN
S1416 IMYAAVDSVNVNEQP
K1478 FMTEEQKKYYNAMKK
A1948 PEKTDVTASTISPPS
K1979 TEKEDKEKDESRK__
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