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Q9Y5Y9

- SCNAA_HUMAN

UniProt

Q9Y5Y9 - SCNAA_HUMAN

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
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 2 (02 Sep 2008)
      Previous versions | rss
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    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

    Keywords - Molecular functioni

    Ion channel, Sodium channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Sodium transport, Transport

    Keywords - Ligandi

    Sodium

    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

    GO - Cellular componenti

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

    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...

    Transmembrane

    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

    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.
    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

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    MEFPIGSLET NNFRRFTPES LVEIEKQIAA KQGTKKAREK HREQKDQEEK     50
    PRPQLDLKAC NQLPKFYGEL PAELIGEPLE DLDPFYSTHR TFMVLNKGRT 100
    ISRFSATRAL WLFSPFNLIR RTAIKVSVHS WFSLFITVTI LVNCVCMTRT 150
    DLPEKIEYVF TVIYTFEALI KILARGFCLN EFTYLRDPWN WLDFSVITLA 200
    YVGTAIDLRG ISGLRTFRVL RALKTVSVIP GLKVIVGALI HSVKKLADVT 250
    ILTIFCLSVF ALVGLQLFKG NLKNKCVKND MAVNETTNYS SHRKPDIYIN 300
    KRGTSDPLLC GNGSDSGHCP DGYICLKTSD NPDFNYTSFD SFAWAFLSLF 350
    RLMTQDSWER LYQQTLRTSG KIYMIFFVLV IFLGSFYLVN LILAVVTMAY 400
    EEQNQATTDE IEAKEKKFQE ALEMLRKEQE VLAALGIDTT SLHSHNGSPL 450
    TSKNASERRH RIKPRVSEGS TEDNKSPRSD PYNQRRMSFL GLASGKRRAS 500
    HGSVFHFRSP GRDISLPEGV TDDGVFPGDH ESHRGSLLLG GGAGQQGPLP 550
    RSPLPQPSNP DSRHGEDEHQ PPPTSELAPG AVDVSAFDAG QKKTFLSAEY 600
    LDEPFRAQRA MSVVSIITSV LEELEESEQK CPPCLTSLSQ KYLIWDCCPM 650
    WVKLKTILFG LVTDPFAELT ITLCIVVNTI FMAMEHHGMS PTFEAMLQIG 700
    NIVFTIFFTA EMVFKIIAFD PYYYFQKKWN IFDCIIVTVS LLELGVAKKG 750
    SLSVLRSFRL LRVFKLAKSW PTLNTLIKII GNSVGALGNL TIILAIIVFV 800
    FALVGKQLLG ENYRNNRKNI SAPHEDWPRW HMHDFFHSFL IVFRILCGEW 850
    IENMWACMEV GQKSICLILF LTVMVLGNLV VLNLFIALLL NSFSADNLTA 900
    PEDDGEVNNL QVALARIQVF GHRTKQALCS FFSRSCPFPQ PKAEPELVVK 950
    LPLSSSKAEN HIAANTARGS SGGLQAPRGP RDEHSDFIAN PTVWVSVPIA 1000
    EGESDLDDLE DDGGEDAQSF QQEVIPKGQQ EQLQQVERCG DHLTPRSPGT 1050
    GTSSEDLAPS LGETWKDESV PQVPAEGVDD TSSSEGSTVD CLDPEEILRK 1100
    IPELADDLEE PDDCFTEGCI RHCPCCKLDT TKSPWDVGWQ VRKTCYRIVE 1150
    HSWFESFIIF MILLSSGSLA FEDYYLDQKP TVKALLEYTD RVFTFIFVFE 1200
    MLLKWVAYGF KKYFTNAWCW LDFLIVNISL ISLTAKILEY SEVAPIKALR 1250
    TLRALRPLRA LSRFEGMRVV VDALVGAIPS IMNVLLVCLI FWLIFSIMGV 1300
    NLFAGKFWRC INYTDGEFSL VPLSIVNNKS DCKIQNSTGS FFWVNVKVNF 1350
    DNVAMGYLAL LQVATFKGWM DIMYAAVDSR EVNMQPKWED NVYMYLYFVI 1400
    FIIFGGFFTL NLFVGVIIDN FNQQKKKLGG QDIFMTEEQK KYYNAMKKLG 1450
    SKKPQKPIPR PLNKFQGFVF DIVTRQAFDI TIMVLICLNM ITMMVETDDQ 1500
    SEEKTKILGK INQFFVAVFT GECVMKMFAL RQYYFTNGWN VFDFIVVVLS 1550
    IASLIFSAIL KSLQSYFSPT LFRVIRLARI GRILRLIRAA KGIRTLLFAL 1600
    MMSLPALFNI GLLLFLVMFI YSIFGMSSFP HVRWEAGIDD MFNFQTFANS 1650
    MLCLFQITTS AGWDGLLSPI LNTGPPYCDP NLPNSNGTRG DCGSPAVGII 1700
    FFTTYIIISF LIMVNMYIAV ILENFNVATE ESTEPLSEDD FDMFYETWEK 1750
    FDPEATQFIT FSALSDFADT LSGPLRIPKP NRNILIQMDL PLVPGDKIHC 1800
    LDILFAFTKN VLGESGELDS LKANMEEKFM ATNLSKSSYE PIATTLRWKQ 1850
    EDISATVIQK AYRSYVLHRS MALSNTPCVP RAEEEAASLP DEGFVAFTAN 1900
    ENCVLPDKSE TASATSFPPS YESVTRGLSD RVNMRTSSSI QNEDEATSME 1950
    LIAPGP 1956
    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF117907 mRNA. Translation: AAD30863.1.
    AC116038 Genomic DNA. No translation available.
    AC137625 Genomic DNA. No translation available.
    CCDSiCCDS33736.1.
    RefSeqiNP_006505.2. NM_006514.2.
    UniGeneiHs.250443.

    Genome annotation databases

    EnsembliENST00000449082; ENSP00000390600; ENSG00000185313.
    GeneIDi6336.
    KEGGihsa:6336.
    UCSCiuc003ciq.3. human.

    Polymorphism databases

    DMDMi205371821.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF117907 mRNA. Translation: AAD30863.1 .
    AC116038 Genomic DNA. No translation available.
    AC137625 Genomic DNA. No translation available.
    CCDSi CCDS33736.1.
    RefSeqi NP_006505.2. NM_006514.2.
    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.
    DB00907. Cocaine.
    DB00527. Dibucaine.
    DB00645. Dyclonine.
    DB00473. Hexylcaine.
    DB01002. Levobupivacaine.
    DB00281. Lidocaine.
    DB00961. Mepivacaine.
    DB00892. Oxybuprocaine.
    DB00721. Procaine.
    DB00807. Proparacaine.
    DB00296. Ropivacaine.
    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 .
    GeneIDi 6336.
    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.
    HOGENOMi HOG000231755.
    HOVERGENi HBG053100.
    InParanoidi Q9Y5Y9.
    KOi K04842.
    OMAi VFFTAEM.
    OrthoDBi EOG7DJSK9.
    PhylomeDBi Q9Y5Y9.
    TreeFami TF323985.

    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

    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: October 1, 2014
    This is version 114 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