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Q9Y5Y9

- SCNAA_HUMAN

UniProt

Q9Y5Y9 - SCNAA_HUMAN

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Protein

Sodium channel protein type 10 subunit alpha

Gene

SCN10A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Tetrodotoxin-resistant channel that 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 sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms.1 Publication

GO - Molecular functioni

  1. voltage-gated sodium channel activity Source: BHF-UCL

GO - Biological processi

  1. AV node cell to bundle of His cell communication Source: BHF-UCL
  2. bundle of His cell to Purkinje myocyte communication Source: BHF-UCL
  3. membrane depolarization during action potential Source: RefGenome
  4. neuronal action potential Source: RefGenome
  5. regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
  6. regulation of cardiac muscle contraction Source: BHF-UCL
  7. regulation of heart rate Source: BHF-UCL
  8. regulation of ion transmembrane transport Source: BHF-UCL
  9. sensory perception Source: ProtInc
  10. sensory perception of pain Source: InterPro
  11. sodium ion transmembrane transport Source: BHF-UCL
  12. sodium ion transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_22266. Interaction between L1 and Ankyrins.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel protein type 10 subunit alpha
Alternative name(s):
Peripheral nerve sodium channel 3
Short name:
PN3
Short name:
hPN3
Sodium channel protein type X subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.8
Gene namesi
Name:SCN10A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:10582. SCN10A.

Subcellular locationi

Membrane By similarity; Multi-pass membrane protein By similarity
Note: It can be translocated to the extracellular membrane through association with S100A10.By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei126 – 14924Helical; Name=S1 of repeat ISequence AnalysisAdd
BLAST
Transmembranei155 – 17420Helical; Name=S2 of repeat ISequence AnalysisAdd
BLAST
Transmembranei188 – 20619Helical; Name=S3 of repeat ISequence AnalysisAdd
BLAST
Transmembranei213 – 23220Helical; Voltage-sensor; Name=S4 of repeat ISequence AnalysisAdd
BLAST
Transmembranei249 – 27224Helical; Name=S5 of repeat ISequence AnalysisAdd
BLAST
Transmembranei374 – 39926Helical; Name=S6 of repeat ISequence AnalysisAdd
BLAST
Transmembranei660 – 68425Helical; Name=S1 of repeat IISequence AnalysisAdd
BLAST
Transmembranei696 – 71924Helical; Name=S2 of repeat IISequence AnalysisAdd
BLAST
Transmembranei728 – 74720Helical; Name=S3 of repeat IISequence AnalysisAdd
BLAST
Transmembranei754 – 77320Helical; Voltage-sensor; Name=S4 of repeat IISequence AnalysisAdd
BLAST
Transmembranei790 – 81021Helical; Name=S5 of repeat IISequence AnalysisAdd
BLAST
Transmembranei865 – 89026Helical; Name=S6 of repeat IISequence AnalysisAdd
BLAST
Transmembranei1148 – 117124Helical; Name=S1 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1185 – 121026Helical; Name=S2 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1217 – 123822Helical; Name=S3 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1243 – 126422Helical; Voltage-sensor; Name=S4 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1284 – 131128Helical; Name=S5 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1392 – 141827Helical; Name=S6 of repeat IIISequence AnalysisAdd
BLAST
Transmembranei1472 – 149524Helical; Name=S1 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1507 – 153024Helical; Name=S2 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1537 – 156024Helical; Name=S3 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1573 – 159422Helical; Voltage-sensor; Name=S4 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1610 – 163223Helical; Name=S5 of repeat IVSequence AnalysisAdd
BLAST
Transmembranei1698 – 172225Helical; Name=S6 of repeat IVSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. C-fiber Source: Ensembl
  2. extracellular vesicular exosome Source: UniProt
  3. voltage-gated sodium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Episodic pain syndrome, familial, 2 (FEPS2) [MIM:615551]: An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti554 – 5541L → P in FEPS2; increases the excitability of small DRG neurons. 1 Publication
VAR_070878
Natural varianti1304 – 13041A → T in FEPS2; increases the excitability of small DRG neurons. 1 Publication
VAR_070882

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615551. phenotype.
Orphaneti88642. Channelopathy-associated congenital insensitivity to pain.
46348. Paroxysmal extreme pain disorder.
90026. Primary erythermalgia.
306577. Sodium channelopathy-related small fiber neuropathy.
PharmGKBiPA35000.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19561956Sodium channel protein type 10 subunit alphaPRO_0000048507Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi284 – 2841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi288 – 2881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi312 – 3121N-linked (GlcNAc...)Sequence Analysis
Glycosylationi335 – 3351N-linked (GlcNAc...)Sequence Analysis
Glycosylationi819 – 8191N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1312 – 13121N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1328 – 13281N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1336 – 13361N-linked (GlcNAc...)Sequence Analysis
Modified residuei1451 – 14511Phosphoserine; by PKCBy similarity
Glycosylationi1686 – 16861N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

Ubiquitinated by NEDD4L; which promotes its endocytosis.By similarity
Phosphorylation at Ser-1451 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ9Y5Y9.
PRIDEiQ9Y5Y9.

PTM databases

PhosphoSiteiQ9Y5Y9.

Expressioni

Tissue specificityi

Expressed in the dorsal root ganglia and sciatic nerve.1 Publication

Gene expression databases

BgeeiQ9Y5Y9.
CleanExiHS_SCN10A.
GenevestigatoriQ9Y5Y9.

Organism-specific databases

HPAiCAB022171.

Interactioni

Subunit structurei

The channel consists of an ion conducting pore forming alpha-subunit regulated by one or more associated auxiliary subunits SCN1B, SCN2B and SCN3B; electrophysiological properties may vary depending on the type of the associated beta subunits. Found in a number of complexes with PRX, DYNLT1 and PDZD2. Interacts with proteins such as FSTL1, PRX, DYNLT1, PDZD2, S100A10 and many others (By similarity). Interacts with NEDD4 and NEDD4L.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000390600.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5Y9.
SMRiQ9Y5Y9. Positions 130-268, 668-891, 1148-1419, 1478-1871.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati125 – 400276IAdd
BLAST
Repeati659 – 891233IIAdd
BLAST
Repeati1147 – 1419273IIIAdd
BLAST
Repeati1471 – 1723253IVAdd
BLAST
Domaini1851 – 188030IQAdd
BLAST

Domaini

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.

Sequence similaritiesi

Contains 1 IQ domain.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1226.
GeneTreeiENSGT00760000118827.
HOGENOMiHOG000231755.
HOVERGENiHBG053100.
InParanoidiQ9Y5Y9.
KOiK04842.
OMAiVFFTAEM.
OrthoDBiEOG7DJSK9.
PhylomeDBiQ9Y5Y9.
TreeFamiTF323985.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028809. Na_channel_a10su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PANTHERiPTHR10037:SF23. PTHR10037:SF23. 1 hit.
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.

Sequencei

Sequence statusi: Complete.

Q9Y5Y9-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEFPIGSLET NNFRRFTPES LVEIEKQIAA KQGTKKAREK HREQKDQEEK
60 70 80 90 100
PRPQLDLKAC NQLPKFYGEL PAELIGEPLE DLDPFYSTHR TFMVLNKGRT
110 120 130 140 150
ISRFSATRAL WLFSPFNLIR RTAIKVSVHS WFSLFITVTI LVNCVCMTRT
160 170 180 190 200
DLPEKIEYVF TVIYTFEALI KILARGFCLN EFTYLRDPWN WLDFSVITLA
210 220 230 240 250
YVGTAIDLRG ISGLRTFRVL RALKTVSVIP GLKVIVGALI HSVKKLADVT
260 270 280 290 300
ILTIFCLSVF ALVGLQLFKG NLKNKCVKND MAVNETTNYS SHRKPDIYIN
310 320 330 340 350
KRGTSDPLLC GNGSDSGHCP DGYICLKTSD NPDFNYTSFD SFAWAFLSLF
360 370 380 390 400
RLMTQDSWER LYQQTLRTSG KIYMIFFVLV IFLGSFYLVN LILAVVTMAY
410 420 430 440 450
EEQNQATTDE IEAKEKKFQE ALEMLRKEQE VLAALGIDTT SLHSHNGSPL
460 470 480 490 500
TSKNASERRH RIKPRVSEGS TEDNKSPRSD PYNQRRMSFL GLASGKRRAS
510 520 530 540 550
HGSVFHFRSP GRDISLPEGV TDDGVFPGDH ESHRGSLLLG GGAGQQGPLP
560 570 580 590 600
RSPLPQPSNP DSRHGEDEHQ PPPTSELAPG AVDVSAFDAG QKKTFLSAEY
610 620 630 640 650
LDEPFRAQRA MSVVSIITSV LEELEESEQK CPPCLTSLSQ KYLIWDCCPM
660 670 680 690 700
WVKLKTILFG LVTDPFAELT ITLCIVVNTI FMAMEHHGMS PTFEAMLQIG
710 720 730 740 750
NIVFTIFFTA EMVFKIIAFD PYYYFQKKWN IFDCIIVTVS LLELGVAKKG
760 770 780 790 800
SLSVLRSFRL LRVFKLAKSW PTLNTLIKII GNSVGALGNL TIILAIIVFV
810 820 830 840 850
FALVGKQLLG ENYRNNRKNI SAPHEDWPRW HMHDFFHSFL IVFRILCGEW
860 870 880 890 900
IENMWACMEV GQKSICLILF LTVMVLGNLV VLNLFIALLL NSFSADNLTA
910 920 930 940 950
PEDDGEVNNL QVALARIQVF GHRTKQALCS FFSRSCPFPQ PKAEPELVVK
960 970 980 990 1000
LPLSSSKAEN HIAANTARGS SGGLQAPRGP RDEHSDFIAN PTVWVSVPIA
1010 1020 1030 1040 1050
EGESDLDDLE DDGGEDAQSF QQEVIPKGQQ EQLQQVERCG DHLTPRSPGT
1060 1070 1080 1090 1100
GTSSEDLAPS LGETWKDESV PQVPAEGVDD TSSSEGSTVD CLDPEEILRK
1110 1120 1130 1140 1150
IPELADDLEE PDDCFTEGCI RHCPCCKLDT TKSPWDVGWQ VRKTCYRIVE
1160 1170 1180 1190 1200
HSWFESFIIF MILLSSGSLA FEDYYLDQKP TVKALLEYTD RVFTFIFVFE
1210 1220 1230 1240 1250
MLLKWVAYGF KKYFTNAWCW LDFLIVNISL ISLTAKILEY SEVAPIKALR
1260 1270 1280 1290 1300
TLRALRPLRA LSRFEGMRVV VDALVGAIPS IMNVLLVCLI FWLIFSIMGV
1310 1320 1330 1340 1350
NLFAGKFWRC INYTDGEFSL VPLSIVNNKS DCKIQNSTGS FFWVNVKVNF
1360 1370 1380 1390 1400
DNVAMGYLAL LQVATFKGWM DIMYAAVDSR EVNMQPKWED NVYMYLYFVI
1410 1420 1430 1440 1450
FIIFGGFFTL NLFVGVIIDN FNQQKKKLGG QDIFMTEEQK KYYNAMKKLG
1460 1470 1480 1490 1500
SKKPQKPIPR PLNKFQGFVF DIVTRQAFDI TIMVLICLNM ITMMVETDDQ
1510 1520 1530 1540 1550
SEEKTKILGK INQFFVAVFT GECVMKMFAL RQYYFTNGWN VFDFIVVVLS
1560 1570 1580 1590 1600
IASLIFSAIL KSLQSYFSPT LFRVIRLARI GRILRLIRAA KGIRTLLFAL
1610 1620 1630 1640 1650
MMSLPALFNI GLLLFLVMFI YSIFGMSSFP HVRWEAGIDD MFNFQTFANS
1660 1670 1680 1690 1700
MLCLFQITTS AGWDGLLSPI LNTGPPYCDP NLPNSNGTRG DCGSPAVGII
1710 1720 1730 1740 1750
FFTTYIIISF LIMVNMYIAV ILENFNVATE ESTEPLSEDD FDMFYETWEK
1760 1770 1780 1790 1800
FDPEATQFIT FSALSDFADT LSGPLRIPKP NRNILIQMDL PLVPGDKIHC
1810 1820 1830 1840 1850
LDILFAFTKN VLGESGELDS LKANMEEKFM ATNLSKSSYE PIATTLRWKQ
1860 1870 1880 1890 1900
EDISATVIQK AYRSYVLHRS MALSNTPCVP RAEEEAASLP DEGFVAFTAN
1910 1920 1930 1940 1950
ENCVLPDKSE TASATSFPPS YESVTRGLSD RVNMRTSSSI QNEDEATSME

LIAPGP
Length:1,956
Mass (Da):220,626
Last modified:September 2, 2008 - v2
Checksum:i4A4A2C5E135B6685
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti509 – 5091S → P.
Corresponds to variant rs7630989 [ dbSNP | Ensembl ].
VAR_020605
Natural varianti554 – 5541L → P in FEPS2; increases the excitability of small DRG neurons. 1 Publication
VAR_070878
Natural varianti590 – 5901G → R.
Corresponds to variant rs35332705 [ dbSNP | Ensembl ].
VAR_048696
Natural varianti916 – 9161R → W Found in a renal cell carcinoma sample; somatic mutation. 1 Publication
VAR_064748
Natural varianti939 – 9391P → L.1 Publication
VAR_070879
Natural varianti940 – 9401Q → L.1 Publication
VAR_070880
Natural varianti1056 – 10561D → N.1 Publication
VAR_070881
Natural varianti1073 – 10731V → A.1 Publication
Corresponds to variant rs6795970 [ dbSNP | Ensembl ].
VAR_020606
Natural varianti1092 – 10921L → P.
Corresponds to variant rs12632942 [ dbSNP | Ensembl ].
VAR_020607
Natural varianti1304 – 13041A → T in FEPS2; increases the excitability of small DRG neurons. 1 Publication
VAR_070882
Natural varianti1523 – 15231C → Y No gain in function in response to depolarization. 1 Publication
VAR_070883
Natural varianti1662 – 16621G → S.1 Publication
VAR_070884
Natural varianti1713 – 17131M → V.1 Publication
Corresponds to variant rs6599241 [ dbSNP | Ensembl ].
VAR_020608

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117907 mRNA. Translation: AAD30863.1.
AC116038 Genomic DNA. No translation available.
AC137625 Genomic DNA. No translation available.
UniGeneiHs.250443.

Genome annotation databases

EnsembliENST00000449082; ENSP00000390600; ENSG00000185313.
KEGGihsa:6336.
UCSCiuc003ciq.3. human.

Polymorphism databases

DMDMi205371821.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117907 mRNA. Translation: AAD30863.1 .
AC116038 Genomic DNA. No translation available.
AC137625 Genomic DNA. No translation available.
UniGenei Hs.250443.

3D structure databases

ProteinModelPortali Q9Y5Y9.
SMRi Q9Y5Y9. Positions 130-268, 668-891, 1148-1419, 1478-1871.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000390600.

Chemistry

BindingDBi Q9Y5Y9.
ChEMBLi CHEMBL2331043.
DrugBanki DB01086. Benzocaine.
DB00297. Bupivacaine.
DB01161. Chloroprocaine.
DB00527. Cinchocaine.
DB00907. Cocaine.
DB00645. Dyclonine.
DB00473. Hexylcaine.
DB06218. Lacosamide.
DB01002. Levobupivacaine.
DB00281. Lidocaine.
DB00961. Mepivacaine.
DB01173. Orphenadrine.
DB00892. Oxybuprocaine.
DB00721. Procaine.
DB00807. Proparacaine.
DB00296. Ropivacaine.
DB00313. Valproic Acid.
GuidetoPHARMACOLOGYi 585.

PTM databases

PhosphoSitei Q9Y5Y9.

Polymorphism databases

DMDMi 205371821.

Proteomic databases

PaxDbi Q9Y5Y9.
PRIDEi Q9Y5Y9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000449082 ; ENSP00000390600 ; ENSG00000185313 .
KEGGi hsa:6336.
UCSCi uc003ciq.3. human.

Organism-specific databases

CTDi 6336.
GeneCardsi GC03M038713.
H-InvDB HIX0030722.
HGNCi HGNC:10582. SCN10A.
HPAi CAB022171.
MIMi 604427. gene.
615551. phenotype.
neXtProti NX_Q9Y5Y9.
Orphaneti 88642. Channelopathy-associated congenital insensitivity to pain.
46348. Paroxysmal extreme pain disorder.
90026. Primary erythermalgia.
306577. Sodium channelopathy-related small fiber neuropathy.
PharmGKBi PA35000.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1226.
GeneTreei ENSGT00760000118827.
HOGENOMi HOG000231755.
HOVERGENi HBG053100.
InParanoidi Q9Y5Y9.
KOi K04842.
OMAi VFFTAEM.
OrthoDBi EOG7DJSK9.
PhylomeDBi Q9Y5Y9.
TreeFami TF323985.

Enzyme and pathway databases

Reactomei REACT_22266. Interaction between L1 and Ankyrins.

Miscellaneous databases

GeneWikii SCN10A.
GenomeRNAii 6336.
NextBioi 24604.
PROi Q9Y5Y9.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y5Y9.
CleanExi HS_SCN10A.
Genevestigatori Q9Y5Y9.

Family and domain databases

Gene3Di 1.20.120.350. 4 hits.
InterProi IPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028809. Na_channel_a10su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view ]
PANTHERi PTHR10037:SF23. PTHR10037:SF23. 1 hit.
Pfami PF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view ]
PRINTSi PR00170. NACHANNEL.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A tetrodotoxin-resistant voltage-gated sodium channel from human dorsal root ganglia, hPN3/SCN10A."
    Rabert D.K., Koch B.D., Ilnicka M., Obernolte R.A., Naylor S.L., Herman R.C., Eglen R.M., Hunter J.C., Sangameswaran L.
    Pain 78:107-114(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION IN VOLTAGE-EVOKED DEPOLARIZATION, TISSUE SPECIFICITY, VARIANTS ALA-1073 AND VAL-1713.
    Tissue: Spinal ganglion.
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: VARIANT TRP-916.
  4. Cited for: VARIANTS FEPS2 PRO-554 AND THR-1304, CHARACTERIZATION OF VARIANTS FEPS2 PRO-554 AND THR-1304, VARIANTS LEU-939; LEU-940; ASN-1056; TYR-1523 AND SER-1662, CHARACTERIZATION OF VARIANT TYR-1523.

Entry informationi

Entry nameiSCNAA_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5Y9
Secondary accession number(s): A6NDQ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: September 2, 2008
Last modified: November 26, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3