Q15858 (SCN9A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sodium channel protein type 9 subunit alpha

Alternative name(s):
Neuroendocrine sodium channel
Short name=hNE-Na
Peripheral sodium channel 1
Short name=PN1
Sodium channel protein type IX subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.7

Gene names

Name:	SCN9A
Synonyms:	NENA

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1988 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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 By similarity. Ref.1 Ref.8
Subunit structure	The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide. Interacts with NEDD4 and NEDD4L By similarity.
Subcellular location	Membrane; Multi-pass membrane protein. Note: In neurite terminals By similarity.
Tissue specificity	Expressed strongly in dorsal root ganglion, with only minor levels elsewhere in the body, smooth muscle cells, MTC cell line and C-cell carcinoma. Isoform 1 is expressed preferentially in the central and peripheral nervous system. Isoform 2 is expressed preferentially in the dorsal root ganglion. Ref.1 Ref.4 Ref.7 Ref.8
Domain	The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
Post-translational modification	Ubiquitinated by NEDD4L; which may promote its endocytosis. Does not seem to be ubiquitinated by NEDD4 By similarity.
Involvement in disease	Primary erythermalgia (PERYTHM) [MIM:133020]: Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.16 Ref.17 Congenital indifference to pain autosomal recessive (CIPAR) [MIM:243000]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19 Paroxysmal extreme pain disorder (PEPD) [MIM:167400]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Generalized epilepsy with febrile seizures plus 7 (GEFS+7) [MIM:613863]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.18 Familial febrile convulsions 3B (FEB3B) [MIM:613863]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.18
Sequence similarities	Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.7/SCN9A subfamily. [View classification] Contains 1 IQ domain.

Ontologies

Keywords
Biological process	Ion transport Sodium transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Epilepsy
Domain	Repeat Transmembrane Transmembrane helix
Ligand	Sodium
Molecular function	Ion channel Sodium channel Voltage-gated channel
PTM	Glycoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	behavioral response to pain Inferred from electronic annotation. Source: Compara inflammatory response Inferred from electronic annotation. Source: Compara post-embryonic development Inferred from electronic annotation. Source: Compara regulation of action potential in neuron Inferred from electronic annotation. Source: Compara response to toxin Inferred from electronic annotation. Source: Compara
Cellular_component	voltage-gated sodium channel complex Inferred from electronic annotation. Source: Compara
Molecular_function	sodium ion binding Inferred from electronic annotation. Source: Compara voltage-gated sodium channel activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q15858-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q15858-2)

The sequence of this isoform differs from the canonical sequence as follows:
     200-229: YLTEFVNLGNVSALRTFRVLRALKTISVIP → YVTEFVDLGNVSALRTFRVLRALKTISVIP

Isoform 3 (identifier: Q15858-3)

The sequence of this isoform differs from the canonical sequence as follows:
     648-658: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1988	1988	Sodium channel protein type 9 subunit alpha		PRO_0000048502
Regions
	Transmembrane	122 – 145	24	Helical; Name=S1 of repeat I; Potential
	Transmembrane	154 – 173	20	Helical; Name=S2 of repeat I; Potential
	Transmembrane	187 – 205	19	Helical; Name=S3 of repeat I; Potential
	Transmembrane	212 – 231	20	Helical; Voltage-sensor; Name=S4 of repeat I; Potential
	Transmembrane	248 – 271	24	Helical; Name=S5 of repeat I; Potential
	Transmembrane	379 – 404	26	Helical; Name=S6 of repeat I; Potential
	Transmembrane	739 – 763	25	Helical; Name=S1 of repeat II; Potential
	Transmembrane	775 – 798	24	Helical; Name=S2 of repeat II; Potential
	Transmembrane	807 – 826	20	Helical; Name=S3 of repeat II; Potential
	Transmembrane	833 – 852	20	Helical; Voltage-sensor; Name=S4 of repeat II; Potential
	Transmembrane	869 – 889	21	Helical; Name=S5 of repeat II; Potential
	Transmembrane	943 – 968	26	Helical; Name=S6 of repeat II; Potential
	Transmembrane	1188 – 1211	24	Helical; Name=S1 of repeat III; Potential
	Transmembrane	1225 – 1250	26	Helical; Name=S2 of repeat III; Potential
	Transmembrane	1257 – 1278	22	Helical; Name=S3 of repeat III; Potential
	Transmembrane	1283 – 1304	22	Helical; Voltage-sensor; Name=S4 of repeat III; Potential
	Transmembrane	1324 – 1351	28	Helical; Name=S5 of repeat III; Potential
	Transmembrane	1431 – 1457	27	Helical; Name=S6 of repeat III; Potential
	Transmembrane	1511 – 1534	24	Helical; Name=S1 of repeat IV; Potential
	Transmembrane	1546 – 1569	24	Helical; Name=S2 of repeat IV; Potential
	Transmembrane	1576 – 1599	24	Helical; Name=S3 of repeat IV; Potential
	Transmembrane	1610 – 1631	22	Helical; Voltage-sensor; Name=S4 of repeat IV; Potential
	Transmembrane	1647 – 1669	23	Helical; Name=S5 of repeat IV; Potential
	Transmembrane	1736 – 1760	25	Helical; Name=S6 of repeat IV; Potential
	Repeat	121 – 405	285	I
	Repeat	738 – 969	232	II
	Repeat	1187 – 1458	272	III
	Repeat	1510 – 1761	252	IV
	Domain	1889 – 1918	30	IQ
Amino acid modifications
	Glycosylation	209	1	N-linked (GlcNAc...) Potential
	Glycosylation	283	1	N-linked (GlcNAc...) Potential
	Glycosylation	1352	1	N-linked (GlcNAc...) Potential
	Glycosylation	1366	1	N-linked (GlcNAc...) Potential
	Glycosylation	1375	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	200 – 229	30	YLTEF…ISVIP → YVTEFVDLGNVSALRTFRVL RALKTISVIP in isoform 2.		VSP_012028
	Alternative sequence	648 – 658	11	Missing in isoform 3.		VSP_012029
	Natural variant	10	1	Q → R in PERYTHM; causes a hyperpolarizing shift of -5.3 mV for the midpoint of activation which is smaller than that seen in other mutations causing early-onset erythromelalgia mutations; also causes a faster rate of activation and slower deactivation compared to wild-type; expression of the mutant protein induced hyperexcitability in dorsal root ganglion neurons but the increase is smaller than that produced by Thr-859. Ref.17		VAR_064595
	Natural variant	62	1	I → V in FEB3B. Ref.18		VAR_064596
	Natural variant	149	1	P → Q in FEB3B. Ref.18		VAR_064597
	Natural variant	216	1	F → S in PERYTHM; hyperpolarizes the voltage dependence of activation by 11 mV, accelerates activation, slows deactivation and enhances the response to slow, small depolarizations. Ref.12 Ref.14		VAR_064598
	Natural variant	228	1	I → M. Ref.18		VAR_064599
	Natural variant	241	1	S → T in PERYTHM. Ref.10		VAR_032014
	Natural variant	395	1	N → K in PERYTHM. Ref.12		VAR_064600
	Natural variant	406	1	E → K in PERYTHM.		VAR_064601
	Natural variant	490	1	S → N. Ref.18		VAR_064602
	Natural variant	519	1	E → K. Ref.18		VAR_064603
	Natural variant	641	1	N → Y in GEFS+7. Ref.18		VAR_064604
	Natural variant	666	1	K → R in GEFS+7; also found in a patient with severe myoclonic epilepsy in infancy. Ref.18		VAR_064605
	Natural variant	695	1	I → M. Ref.18		VAR_064606
	Natural variant	710	1	C → Y Found in a patient with severe myoclonic epilepsy in infancy. Ref.18		VAR_064607
	Natural variant	750	1	I → V. Ref.18		VAR_064608
	Natural variant	859	1	I → T in PERYTHM; sporadic; activated at more negative potentials; slower inactivation kinetics than wild-type channels. Ref.6 Ref.9 Ref.12 Ref.17		VAR_019947
	Natural variant	869	1	L → F in PERYTHM; causes a hyperpolarizing shift in channel activation, a depolarizing shift of inactivation and an 18-fold increase in deactivation time compared to wild-type; the mean ramp current amplitude in response to slow depolarization is higher in the mutant channels. Ref.12 Ref.13		VAR_064609
	Natural variant	869	1	L → H in PERYTHM; activated at more negative potentials; slower inactivation kinetics than wild-type channels. Ref.6 Ref.9 Ref.16		VAR_019948
	Natural variant	907	1	R → Q in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel. Ref.19		VAR_064610
	Natural variant	932	1	M → L. Corresponds to variant rs12478318 [ dbSNP | Ensembl ].		VAR_030444
	Natural variant	943	1	M → L. Corresponds to variant rs12478318 [ dbSNP | Ensembl ].		VAR_055646
	Natural variant	1007	1	R → C in PEPD. Ref.15		VAR_032015
	Natural variant	1134	1	L → F. Ref.18		VAR_064611
	Natural variant	1161	1	W → R. Ref.1 Ref.2 Ref.12 Corresponds to variant rs6746030 [ dbSNP | Ensembl ].		VAR_019949
	Natural variant	1171	1	E → Q Found in a patient with severe myoclonic epilepsy in infancy. Ref.18		VAR_064612
	Natural variant	1278	1	L → V. Ref.18		VAR_064613
	Natural variant	1309	1	V → D in PEPD. Ref.15		VAR_032016
	Natural variant	1309	1	V → F in PEPD. Ref.15		VAR_032017
	Natural variant	1310	1	V → F in PEPD. Ref.15		VAR_032018
	Natural variant	1381 – 1385	5	Missing in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel.		VAR_064614
	Natural variant	1460	1	F → V in PERYTHM; produces a hyperpolarizing shift in channel activation and a depolarizing shift in steady-state activation. Ref.11		VAR_032019
	Natural variant	1472	1	I → T in PEPD; reduction in fast inactivation leading to persistent sodium current. Ref.15		VAR_032020
	Natural variant	1473	1	F → V in PEPD. Ref.15		VAR_032021
	Natural variant	1475	1	T → I in PEPD; reduction in fast inactivation leading to persistent sodium current. Ref.15		VAR_032022
	Natural variant	1638	1	M → K in PEPD; reduction in fast inactivation leading to persistent sodium current. Ref.15		VAR_032023
	Natural variant	1919	1	D → G. Corresponds to variant rs3750904 [ dbSNP | Ensembl ].		VAR_019950
Experimental info
	Sequence conflict	201	1	L → V in AAT85835. Ref.4
	Sequence conflict	201	1	L → V in AAT85833. Ref.4
	Sequence conflict	206	1	N → D in AAT85835. Ref.4
	Sequence conflict	206	1	N → D in AAT85833. Ref.4
	Sequence conflict	267	1	F → S in AAT85834. Ref.4
	Sequence conflict	301	1	K → R in AAT85835. Ref.4
	Sequence conflict	309	1	S → P in AAT85834. Ref.4
	Sequence conflict	420	1	E → G in AAT85834. Ref.4
	Sequence conflict	430	1	L → P in AAT85834. Ref.4
	Sequence conflict	501	1	S → P in AAT85835. Ref.4
	Sequence conflict	610	1	P → T in AAT85835. Ref.4
	Sequence conflict	642	1	G → R in AAT85835. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 5, 2011. Version 3. Checksum: 1BAEB8F32EBF5438	FASTA	1,988	226,372
	10 20 30 40 50 60 MAMLPPPGPQ SFVHFTKQSL ALIEQRIAER KSKEPKEEKK DDDEEAPKPS SDLEAGKQLP 70 80 90 100 110 120 FIYGDIPPGM VSEPLEDLDP YYADKKTFIV LNKGKTIFRF NATPALYMLS PFSPLRRISI 130 140 150 160 170 180 KILVHSLFSM LIMCTILTNC IFMTMNNPPD WTKNVEYTFT GIYTFESLVK ILARGFCVGE 190 200 210 220 230 240 FTFLRDPWNW LDFVVIVFAY LTEFVNLGNV SALRTFRVLR ALKTISVIPG LKTIVGALIQ 250 260 270 280 290 300 SVKKLSDVMI LTVFCLSVFA LIGLQLFMGN LKHKCFRNSL ENNETLESIM NTLESEEDFR 310 320 330 340 350 360 KYFYYLEGSK DALLCGFSTD SGQCPEGYTC VKIGRNPDYG YTSFDTFSWA FLALFRLMTQ 370 380 390 400 410 420 DYWENLYQQT LRAAGKTYMI FFVVVIFLGS FYLINLILAV VAMAYEEQNQ ANIEEAKQKE 430 440 450 460 470 480 LEFQQMLDRL KKEQEEAEAI AAAAAEYTSI RRSRIMGLSE SSSETSKLSS KSAKERRNRR 490 500 510 520 530 540 KKKNQKKLSS GEEKGDAEKL SKSESEDSIR RKSFHLGVEG HRRAHEKRLS TPNQSPLSIR 550 560 570 580 590 600 GSLFSARRSS RTSLFSFKGR GRDIGSETEF ADDEHSIFGD NESRRGSLFV PHRPQERRSS 610 620 630 640 650 660 NISQASRSPP MLPVNGKMHS AVDCNGVVSL VDGRSALMLP NGQLLPEVII DKATSDDSGT 670 680 690 700 710 720 TNQIHKKRRC SSYLLSEDML NDPNLRQRAM SRASILTNTV EELEESRQKC PPWWYRFAHK 730 740 750 760 770 780 FLIWNCSPYW IKFKKCIYFI VMDPFVDLAI TICIVLNTLF MAMEHHPMTE EFKNVLAIGN 790 800 810 820 830 840 LVFTGIFAAE MVLKLIAMDP YEYFQVGWNI FDSLIVTLSL VELFLADVEG LSVLRSFRLL 850 860 870 880 890 900 RVFKLAKSWP TLNMLIKIIG NSVGALGNLT LVLAIIVFIF AVVGMQLFGK SYKECVCKIN 910 920 930 940 950 960 DDCTLPRWHM NDFFHSFLIV FRVLCGEWIE TMWDCMEVAG QAMCLIVYMM VMVIGNLVVL 970 980 990 1000 1010 1020 NLFLALLLSS FSSDNLTAIE EDPDANNLQI AVTRIKKGIN YVKQTLREFI LKAFSKKPKI 1030 1040 1050 1060 1070 1080 SREIRQAEDL NTKKENYISN HTLAEMSKGH NFLKEKDKIS GFGSSVDKHL MEDSDGQSFI 1090 1100 1110 1120 1130 1140 HNPSLTVTVP IAPGESDLEN MNAEELSSDS DSEYSKVRLN RSSSSECSTV DNPLPGEGEE 1150 1160 1170 1180 1190 1200 AEAEPMNSDE PEACFTDGCV WRFSCCQVNI ESGKGKIWWN IRKTCYKIVE HSWFESFIVL 1210 1220 1230 1240 1250 1260 MILLSSGALA FEDIYIERKK TIKIILEYAD KIFTYIFILE MLLKWIAYGY KTYFTNAWCW 1270 1280 1290 1300 1310 1320 LDFLIVDVSL VTLVANTLGY SDLGPIKSLR TLRALRPLRA LSRFEGMRVV VNALIGAIPS 1330 1340 1350 1360 1370 1380 IMNVLLVCLI FWLIFSIMGV NLFAGKFYEC INTTDGSRFP ASQVPNRSEC FALMNVSQNV 1390 1400 1410 1420 1430 1440 RWKNLKVNFD NVGLGYLSLL QVATFKGWTI IMYAAVDSVN VDKQPKYEYS LYMYIYFVVF 1450 1460 1470 1480 1490 1500 IIFGSFFTLN LFIGVIIDNF NQQKKKLGGQ DIFMTEEQKK YYNAMKKLGS KKPQKPIPRP 1510 1520 1530 1540 1550 1560 GNKIQGCIFD LVTNQAFDIS IMVLICLNMV TMMVEKEGQS QHMTEVLYWI NVVFIILFTG 1570 1580 1590 1600 1610 1620 ECVLKLISLR HYYFTVGWNI FDFVVVIISI VGMFLADLIE TYFVSPTLFR VIRLARIGRI 1630 1640 1650 1660 1670 1680 LRLVKGAKGI RTLLFALMMS LPALFNIGLL LFLVMFIYAI FGMSNFAYVK KEDGINDMFN 1690 1700 1710 1720 1730 1740 FETFGNSMIC LFQITTSAGW DGLLAPILNS KPPDCDPKKV HPGSSVEGDC GNPSVGIFYF 1750 1760 1770 1780 1790 1800 VSYIIISFLV VVNMYIAVIL ENFSVATEES TEPLSEDDFE MFYEVWEKFD PDATQFIEFS 1810 1820 1830 1840 1850 1860 KLSDFAAALD PPLLIAKPNK VQLIAMDLPM VSGDRIHCLD ILFAFTKRVL GESGEMDSLR 1870 1880 1890 1900 1910 1920 SQMEERFMSA NPSKVSYEPI TTTLKRKQED VSATVIQRAY RRYRLRQNVK NISSIYIKDG 1930 1940 1950 1960 1970 1980 DRDDDLLNKK DMAFDNVNEN SSPEKTDATS STTSPPSYDS VTKPDKEKYE QDRTEKEDKG KDSKESKK
	Isoform 2 [UniParc]. Checksum: 8C9066AD56148C02	FASTA	1,988	226,359
	10 20 30 40 50 60 MAMLPPPGPQ SFVHFTKQSL ALIEQRIAER KSKEPKEEKK DDDEEAPKPS SDLEAGKQLP 70 80 90 100 110 120 FIYGDIPPGM VSEPLEDLDP YYADKKTFIV LNKGKTIFRF NATPALYMLS PFSPLRRISI 130 140 150 160 170 180 KILVHSLFSM LIMCTILTNC IFMTMNNPPD WTKNVEYTFT GIYTFESLVK ILARGFCVGE 190 200 210 220 230 240 FTFLRDPWNW LDFVVIVFAY VTEFVDLGNV SALRTFRVLR ALKTISVIPG LKTIVGALIQ 250 260 270 280 290 300 SVKKLSDVMI LTVFCLSVFA LIGLQLFMGN LKHKCFRNSL ENNETLESIM NTLESEEDFR 310 320 330 340 350 360 KYFYYLEGSK DALLCGFSTD SGQCPEGYTC VKIGRNPDYG YTSFDTFSWA FLALFRLMTQ 370 380 390 400 410 420 DYWENLYQQT LRAAGKTYMI FFVVVIFLGS FYLINLILAV VAMAYEEQNQ ANIEEAKQKE 430 440 450 460 470 480 LEFQQMLDRL KKEQEEAEAI AAAAAEYTSI RRSRIMGLSE SSSETSKLSS KSAKERRNRR 490 500 510 520 530 540 KKKNQKKLSS GEEKGDAEKL SKSESEDSIR RKSFHLGVEG HRRAHEKRLS TPNQSPLSIR 550 560 570 580 590 600 GSLFSARRSS RTSLFSFKGR GRDIGSETEF ADDEHSIFGD NESRRGSLFV PHRPQERRSS 610 620 630 640 650 660 NISQASRSPP MLPVNGKMHS AVDCNGVVSL VDGRSALMLP NGQLLPEVII DKATSDDSGT 670 680 690 700 710 720 TNQIHKKRRC SSYLLSEDML NDPNLRQRAM SRASILTNTV EELEESRQKC PPWWYRFAHK 730 740 750 760 770 780 FLIWNCSPYW IKFKKCIYFI VMDPFVDLAI TICIVLNTLF MAMEHHPMTE EFKNVLAIGN 790 800 810 820 830 840 LVFTGIFAAE MVLKLIAMDP YEYFQVGWNI FDSLIVTLSL VELFLADVEG LSVLRSFRLL 850 860 870 880 890 900 RVFKLAKSWP TLNMLIKIIG NSVGALGNLT LVLAIIVFIF AVVGMQLFGK SYKECVCKIN 910 920 930 940 950 960 DDCTLPRWHM NDFFHSFLIV FRVLCGEWIE TMWDCMEVAG QAMCLIVYMM VMVIGNLVVL 970 980 990 1000 1010 1020 NLFLALLLSS FSSDNLTAIE EDPDANNLQI AVTRIKKGIN YVKQTLREFI LKAFSKKPKI 1030 1040 1050 1060 1070 1080 SREIRQAEDL NTKKENYISN HTLAEMSKGH NFLKEKDKIS GFGSSVDKHL MEDSDGQSFI 1090 1100 1110 1120 1130 1140 HNPSLTVTVP IAPGESDLEN MNAEELSSDS DSEYSKVRLN RSSSSECSTV DNPLPGEGEE 1150 1160 1170 1180 1190 1200 AEAEPMNSDE PEACFTDGCV WRFSCCQVNI ESGKGKIWWN IRKTCYKIVE HSWFESFIVL 1210 1220 1230 1240 1250 1260 MILLSSGALA FEDIYIERKK TIKIILEYAD KIFTYIFILE MLLKWIAYGY KTYFTNAWCW 1270 1280 1290 1300 1310 1320 LDFLIVDVSL VTLVANTLGY SDLGPIKSLR TLRALRPLRA LSRFEGMRVV VNALIGAIPS 1330 1340 1350 1360 1370 1380 IMNVLLVCLI FWLIFSIMGV NLFAGKFYEC INTTDGSRFP ASQVPNRSEC FALMNVSQNV 1390 1400 1410 1420 1430 1440 RWKNLKVNFD NVGLGYLSLL QVATFKGWTI IMYAAVDSVN VDKQPKYEYS LYMYIYFVVF 1450 1460 1470 1480 1490 1500 IIFGSFFTLN LFIGVIIDNF NQQKKKLGGQ DIFMTEEQKK YYNAMKKLGS KKPQKPIPRP 1510 1520 1530 1540 1550 1560 GNKIQGCIFD LVTNQAFDIS IMVLICLNMV TMMVEKEGQS QHMTEVLYWI NVVFIILFTG 1570 1580 1590 1600 1610 1620 ECVLKLISLR HYYFTVGWNI FDFVVVIISI VGMFLADLIE TYFVSPTLFR VIRLARIGRI 1630 1640 1650 1660 1670 1680 LRLVKGAKGI RTLLFALMMS LPALFNIGLL LFLVMFIYAI FGMSNFAYVK KEDGINDMFN 1690 1700 1710 1720 1730 1740 FETFGNSMIC LFQITTSAGW DGLLAPILNS KPPDCDPKKV HPGSSVEGDC GNPSVGIFYF 1750 1760 1770 1780 1790 1800 VSYIIISFLV VVNMYIAVIL ENFSVATEES TEPLSEDDFE MFYEVWEKFD PDATQFIEFS 1810 1820 1830 1840 1850 1860 KLSDFAAALD PPLLIAKPNK VQLIAMDLPM VSGDRIHCLD ILFAFTKRVL GESGEMDSLR 1870 1880 1890 1900 1910 1920 SQMEERFMSA NPSKVSYEPI TTTLKRKQED VSATVIQRAY RRYRLRQNVK NISSIYIKDG 1930 1940 1950 1960 1970 1980 DRDDDLLNKK DMAFDNVNEN SSPEKTDATS STTSPPSYDS VTKPDKEKYE QDRTEKEDKG KDSKESKK
	Isoform 3 [UniParc]. Checksum: 8B2BD5CF665F11A8	FASTA	1,977	225,227
	10 20 30 40 50 60 MAMLPPPGPQ SFVHFTKQSL ALIEQRIAER KSKEPKEEKK DDDEEAPKPS SDLEAGKQLP 70 80 90 100 110 120 FIYGDIPPGM VSEPLEDLDP YYADKKTFIV LNKGKTIFRF NATPALYMLS PFSPLRRISI 130 140 150 160 170 180 KILVHSLFSM LIMCTILTNC IFMTMNNPPD WTKNVEYTFT GIYTFESLVK ILARGFCVGE 190 200 210 220 230 240 FTFLRDPWNW LDFVVIVFAY LTEFVNLGNV SALRTFRVLR ALKTISVIPG LKTIVGALIQ 250 260 270 280 290 300 SVKKLSDVMI LTVFCLSVFA LIGLQLFMGN LKHKCFRNSL ENNETLESIM NTLESEEDFR 310 320 330 340 350 360 KYFYYLEGSK DALLCGFSTD SGQCPEGYTC VKIGRNPDYG YTSFDTFSWA FLALFRLMTQ 370 380 390 400 410 420 DYWENLYQQT LRAAGKTYMI FFVVVIFLGS FYLINLILAV VAMAYEEQNQ ANIEEAKQKE 430 440 450 460 470 480 LEFQQMLDRL KKEQEEAEAI AAAAAEYTSI RRSRIMGLSE SSSETSKLSS KSAKERRNRR 490 500 510 520 530 540 KKKNQKKLSS GEEKGDAEKL SKSESEDSIR RKSFHLGVEG HRRAHEKRLS TPNQSPLSIR 550 560 570 580 590 600 GSLFSARRSS RTSLFSFKGR GRDIGSETEF ADDEHSIFGD NESRRGSLFV PHRPQERRSS 610 620 630 640 650 660 NISQASRSPP MLPVNGKMHS AVDCNGVVSL VDGRSALMLP NGQLLPEGTT NQIHKKRRCS 670 680 690 700 710 720 SYLLSEDMLN DPNLRQRAMS RASILTNTVE ELEESRQKCP PWWYRFAHKF LIWNCSPYWI 730 740 750 760 770 780 KFKKCIYFIV MDPFVDLAIT ICIVLNTLFM AMEHHPMTEE FKNVLAIGNL VFTGIFAAEM 790 800 810 820 830 840 VLKLIAMDPY EYFQVGWNIF DSLIVTLSLV ELFLADVEGL SVLRSFRLLR VFKLAKSWPT 850 860 870 880 890 900 LNMLIKIIGN SVGALGNLTL VLAIIVFIFA VVGMQLFGKS YKECVCKIND DCTLPRWHMN 910 920 930 940 950 960 DFFHSFLIVF RVLCGEWIET MWDCMEVAGQ AMCLIVYMMV MVIGNLVVLN LFLALLLSSF 970 980 990 1000 1010 1020 SSDNLTAIEE DPDANNLQIA VTRIKKGINY VKQTLREFIL KAFSKKPKIS REIRQAEDLN 1030 1040 1050 1060 1070 1080 TKKENYISNH TLAEMSKGHN FLKEKDKISG FGSSVDKHLM EDSDGQSFIH NPSLTVTVPI 1090 1100 1110 1120 1130 1140 APGESDLENM NAEELSSDSD SEYSKVRLNR SSSSECSTVD NPLPGEGEEA EAEPMNSDEP 1150 1160 1170 1180 1190 1200 EACFTDGCVW RFSCCQVNIE SGKGKIWWNI RKTCYKIVEH SWFESFIVLM ILLSSGALAF 1210 1220 1230 1240 1250 1260 EDIYIERKKT IKIILEYADK IFTYIFILEM LLKWIAYGYK TYFTNAWCWL DFLIVDVSLV 1270 1280 1290 1300 1310 1320 TLVANTLGYS DLGPIKSLRT LRALRPLRAL SRFEGMRVVV NALIGAIPSI MNVLLVCLIF 1330 1340 1350 1360 1370 1380 WLIFSIMGVN LFAGKFYECI NTTDGSRFPA SQVPNRSECF ALMNVSQNVR WKNLKVNFDN 1390 1400 1410 1420 1430 1440 VGLGYLSLLQ VATFKGWTII MYAAVDSVNV DKQPKYEYSL YMYIYFVVFI IFGSFFTLNL 1450 1460 1470 1480 1490 1500 FIGVIIDNFN QQKKKLGGQD IFMTEEQKKY YNAMKKLGSK KPQKPIPRPG NKIQGCIFDL 1510 1520 1530 1540 1550 1560 VTNQAFDISI MVLICLNMVT MMVEKEGQSQ HMTEVLYWIN VVFIILFTGE CVLKLISLRH 1570 1580 1590 1600 1610 1620 YYFTVGWNIF DFVVVIISIV GMFLADLIET YFVSPTLFRV IRLARIGRIL RLVKGAKGIR 1630 1640 1650 1660 1670 1680 TLLFALMMSL PALFNIGLLL FLVMFIYAIF GMSNFAYVKK EDGINDMFNF ETFGNSMICL 1690 1700 1710 1720 1730 1740 FQITTSAGWD GLLAPILNSK PPDCDPKKVH PGSSVEGDCG NPSVGIFYFV SYIIISFLVV 1750 1760 1770 1780 1790 1800 VNMYIAVILE NFSVATEEST EPLSEDDFEM FYEVWEKFDP DATQFIEFSK LSDFAAALDP 1810 1820 1830 1840 1850 1860 PLLIAKPNKV QLIAMDLPMV SGDRIHCLDI LFAFTKRVLG ESGEMDSLRS QMEERFMSAN 1870 1880 1890 1900 1910 1920 PSKVSYEPIT TTLKRKQEDV SATVIQRAYR RYRLRQNVKN ISSIYIKDGD RDDDLLNKKD 1930 1940 1950 1960 1970 MAFDNVNENS SPEKTDATSS TTSPPSYDSV TKPDKEKYEQ DRTEKEDKGK DSKESKK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells." Klugbauer N., Lacinova L., Flockerzi V., Hofmann F. EMBO J. 14:1084-1090(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION IN VOLTAGE-EVOKED DEPOLARIZATION, TISSUE SPECIFICITY, VARIANT ARG-1161. Tissue: Thyroid.
[2]	"An SCN9A channelopathy causes congenital inability to experience pain." Cox J.J., Reimann F., Nicholas A.K., Thornton G., Roberts E., Springell K., Karbani G., Jafri H., Mannan J., Raashid Y., Al-Gazali L., Hamamy H., Valente E.M., Gorman S., Williams R., McHale D.P., Wood J.N., Gribble F.M., Woods C.G. Nature 444:894-898(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), INVOLVEMENT IN CONGENITAL INSENSITIVITY TO PAIN, CHARACTERIZATION, VARIANT ARG-1161.
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Expression of alternatively spliced sodium channel alpha-subunit genes: unique splicing patterns are observed in dorsal root ganglia." Raymond C.K., Castle J.C., Garrett-Engele P.W., Armour C.D., Kan Z.G., Tsinoremas N.T., Johnson J.M. J. Biol. Chem. 279:46234-46241(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 136-674 (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY. Tissue: Spinal ganglion.
[5]	"Upregulation of voltage-gated Na+ channel expression and metastatic potential in human breast cancer: correlative studies on cell lines and biopsy tissues." Diss J.K.J., Fraser S.P., Coombes R.C., Djamgoz M.B.A. Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 150-264 AND 1340-1400.
[6]	"Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia." Yang Y., Wang Y., Li S., Xu Z., Li H., Ma L., Fan J., Bu D., Liu B., Fan Z., Wu G., Jin J., Ding B., Zhu X., Shen Y. J. Med. Genet. 41:171-174(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 840-958, VARIANTS PERYTHM THR-859 AND HIS-869.
[7]	"A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia." Sangameswaran L., Fish L.M., Koch B.D., Rabert D.K., Delgado S.G., Ilnicka M., Jakeman L.B., Novakovic S., Wong K., Sze P., Tzoumaka E., Stewart G.R., Herman R.C., Chan H., Eglen R.M., Hunter J.C. J. Biol. Chem. 272:14805-14809(1997) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[8]	"Voltage-gated sodium channel expressed in cultured human smooth muscle cells: involvement of SCN9A." Jo T., Nagata T., Iida H., Imuta H., Iwasawa K., Ma J., Hara K., Omata M., Nagai R., Takizawa H., Nagase T., Nakajima T. FEBS Lett. 567:339-343(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION IN VOLTAGE-EVOKED DEPOLARIZATION, TISSUE SPECIFICITY.
[9]	"Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy." Cummins T.R., Dib-Hajj S.D., Waxman S.G. J. Neurosci. 24:8232-8236(2004) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS PERYTHM THR-859 AND HIS-869.
[10]	"Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7." Michiels J.J., te Morsche R.H.M., Jansen J.B.M.J., Drenth J.P.H. Arch. Neurol. 62:1587-1590(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PERYTHM THR-241.
[11]	"Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons." Dib-Hajj S.D., Rush A.M., Cummins T.R., Hisama F.M., Novella S., Tyrrell L., Marshall L., Waxman S.G. Brain 128:1847-1854(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PERYTHM VAL-1460, CHARACTERIZATION OF VARIANT PERYTHM VAL-1460.
[12]	"SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels." Drenth J.P., te Morsche R.H., Guillet G., Taieb A., Kirby R.L., Jansen J.B. J. Invest. Dermatol. 124:1333-1338(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PERYTHM SER-216; LYS-395; THR-859 AND PHE-869, VARIANT ARG-1161.
[13]	"Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7." Han C., Rush A.M., Dib-Hajj S.D., Li S., Xu Z., Wang Y., Tyrrell L., Wang X., Yang Y., Waxman S.G. Ann. Neurol. 59:553-558(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PERYTHM PHE-869, CHARACTERIZATION OF VARIANT PERYTHM PHE-869.
[14]	"Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy." Choi J.S., Dib-Hajj S.D., Waxman S.G. Neurology 67:1563-1567(2006) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANT PERYTHM SER-216.
[15]	"SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes." Fertleman C.R., Baker M.D., Parker K.A., Moffatt S., Elmslie F.V., Abrahamsen B., Ostman J., Klugbauer N., Wood J.N., Gardiner R.M., Rees M. Neuron 52:767-774(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PEPD CYS-1007; PHE-1309; ASP-1309; PHE-1310; THR-1472; VAL-1473; ILE-1475 AND LYS-1638, CHARACTERIZATION OF VARIANTS PEPD THR-1472; ILE-1475 AND LYS-1638.
[16]	"A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons." Rush A.M., Dib-Hajj S.D., Liu S., Cummins T.R., Black J.A., Waxman S.G. Proc. Natl. Acad. Sci. U.S.A. 103:8245-8250(2006) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANT PERYTHM HIS-869.
[17]	"Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation." Han C., Dib-Hajj S.D., Lin Z., Li Y., Eastman E.M., Tyrrell L., Cao X., Yang Y., Waxman S.G. Brain 132:1711-1722(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PERYTHM ARG-10, CHARACTERIZATION OF VARIANTS PERYTHM ARG-10 AND THR-859.
[18]	"A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome." Singh N.A., Pappas C., Dahle E.J., Claes L.R., Pruess T.H., De Jonghe P., Thompson J., Dixon M., Gurnett C., Peiffer A., White H.S., Filloux F., Leppert M.F. PLoS Genet. 5:E1000649-E1000649(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GEFS+7 TYR-641 AND ARG-666, VARIANTS FEB3B VAL-62 AND GLN-149, VARIANTS MET-228; ASN-490; LYS-519; MET-695; TYR-710; VAL-750; PHE-1134; GLN-1171 AND VAL-1278.
[19]	"Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations." Cox J.J., Sheynin J., Shorer Z., Reimann F., Nicholas A.K., Zubovic L., Baralle M., Wraige E., Manor E., Levy J., Woods C.G., Parvari R. Hum. Mutat. 31:E1670-E1686(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CIPAR GLN-907 AND 1381-ARG--LEU-1385 DEL, CHARACTERIZATION OF VARIANTS CIPAR GLN-907 AND 1381-ARG--LEU-1385 DEL.
+	Additional computationally mapped references.

Web resources

GeneReviews

Wikipedia

SCN9A entry

Protein Spotlight

Silent pain - Issue 102 of February 2009

Cross-references

Sequence databases
EMBL GenBank DDBJ	X82835 mRNA. Translation: CAA58042.1. DQ857292 mRNA. Translation: ABI51981.1. AC074101 Genomic DNA. No translation available. AC107082 Genomic DNA. No translation available. AC108146 Genomic DNA. No translation available. AY682084 mRNA. Translation: AAT85833.1. AY682085 mRNA. Translation: AAT85834.1. AY682086 mRNA. Translation: AAT85835.1. AJ310882 mRNA. Translation: CAC84550.1. AJ310883 mRNA. Translation: CAC84551.1. AJ310897 mRNA. Translation: CAC84537.1. AJ580918 Genomic DNA. Translation: CAE45644.1. AJ580919 Genomic DNA. Translation: CAE45645.1.
IPI	IPI00154944. IPI00479414. IPI00745570.
PIR	S54771.
RefSeq	NP_002968.1. NM_002977.3.
UniGene	Hs.439145.
3D structure databases
ProteinModelPortal	Q15858.
SMR	Q15858. Positions 1761-1916.
ModBase	Search...
Protein family/group databases
TCDB	1.A.1.10.5. voltage-gated ion channel (VIC) superfamily.
PTM databases
PhosphoSite	Q15858.
Polymorphism databases
DMDM	55976302.
Proteomic databases
PaxDb	Q15858.
PRIDE	Q15858.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000409435; ENSP00000386330; ENSG00000169432. ENST00000409672; ENSP00000386306; ENSG00000169432. ENST00000454569; ENSP00000413212; ENSG00000169432.
GeneID	6335.
KEGG	hsa:6335.
Organism-specific databases
CTD	6335.
GeneCards	GC02M167051.
HGNC	HGNC:10597. SCN9A.
HPA	CAB013679.
MIM	133020. phenotype. 167400. phenotype. 243000. phenotype. 603415. gene. 613863. phenotype.
neXtProt	NX_Q15858.
Orphanet	88642. Channelopathy-associated congenital insensitivity to pain. 33069. Dravet syndrome. 1956. Erythromelalgia. 36387. Generalized epilepsy with febrile seizures-plus context. 46348. Paroxysmal extreme pain disorder. 90026. Primary erythermalgia.
PharmGKB	PA35010.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1226.
HOVERGEN	HBG053100.
KO	K04841.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
ArrayExpress	Q15858.
Bgee	Q15858.
CleanEx	HS_SCN9A.
Genevestigator	Q15858.
GermOnline	ENSG00000169432. Homo sapiens.
Family and domain databases
InterPro	IPR024583. DUF3451. IPR005821. Ion_trans_dom. IPR000048. IQ_motif_EF-hand-BS. IPR001696. Na_channel_asu. IPR010526. Na_trans_assoc. [Graphical view]
Pfam	PF11933. DUF3451. 1 hit. PF00520. Ion_trans. 4 hits. PF06512. Na_trans_assoc. 1 hit. [Graphical view]
PRINTS	PR00170. NACHANNEL.
SMART	SM00015. IQ. 1 hit. [Graphical view]
PROSITE	PS50096. IQ. False negative. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q15858.
ChEMBL	CHEMBL4296.
DrugBank	DB00555. Lamotrigine. DB00281. Lidocaine.
GenomeRNAi	6335.
NextBio	24600.
SOURCE	Search...

Entry information

Entry name

SCN9A_HUMAN

Accession

Primary (citable) accession number: Q15858
Secondary accession number(s): A1BUH5 , Q6B4R9, Q6B4S0, Q6B4S1, Q70HX1, Q70HX2, Q8WTU1, Q8WWN4

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 23, 2004
Last sequence update:	April 5, 2011
Last modified:	May 1, 2013
This is version 119 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.