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A0AV02

- S12A8_HUMAN

UniProt

A0AV02 - S12A8_HUMAN

Protein

Solute carrier family 12 member 8

Gene

SLC12A8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 61 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.1 Publication

    GO - Molecular functioni

    1. symporter activity Source: UniProtKB-KW

    GO - Biological processi

    1. potassium ion transport Source: UniProtKB-KW

    Keywords - Biological processi

    Ion transport, Potassium transport, Symport, Transport

    Keywords - Ligandi

    Chloride, Potassium

    Protein family/group databases

    TCDBi2.A.30.3.4. the cation-chloride cotransporter (ccc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 12 member 8
    Alternative name(s):
    Cation-chloride cotransporter 9
    Gene namesi
    Name:SLC12A8
    Synonyms:CCC9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:15595. SLC12A8.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    SLC12A8 has been identified as a possible susceptibility gene for psoriasis mapped to chromosome 3q21 (PSORS5).

    Organism-specific databases

    PharmGKBiPA37991.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 714714Solute carrier family 12 member 8PRO_0000305287Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi221 – 2211N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiA0AV02.
    PaxDbiA0AV02.
    PRIDEiA0AV02.

    PTM databases

    PhosphoSiteiA0AV02.

    Expressioni

    Tissue specificityi

    Ubiquitous with very low level in normal skin.1 Publication

    Gene expression databases

    ArrayExpressiA0AV02.
    BgeeiA0AV02.
    GenevestigatoriA0AV02.

    Organism-specific databases

    HPAiHPA031123.

    Structurei

    3D structure databases

    ProteinModelPortaliA0AV02.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei37 – 6024HelicalSequence AnalysisAdd
    BLAST
    Transmembranei72 – 9322HelicalSequence AnalysisAdd
    BLAST
    Transmembranei99 – 11618HelicalSequence AnalysisAdd
    BLAST
    Transmembranei123 – 14220HelicalSequence AnalysisAdd
    BLAST
    Transmembranei154 – 17320HelicalSequence AnalysisAdd
    BLAST
    Transmembranei185 – 20521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei233 – 25422HelicalSequence AnalysisAdd
    BLAST
    Transmembranei266 – 28924HelicalSequence AnalysisAdd
    BLAST
    Transmembranei309 – 33123HelicalSequence AnalysisAdd
    BLAST
    Transmembranei360 – 37718HelicalSequence AnalysisAdd
    BLAST
    Transmembranei383 – 40321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei593 – 61624HelicalSequence AnalysisAdd
    BLAST
    Transmembranei622 – 64322HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the SLC12A transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0531.
    HOVERGENiHBG108430.
    InParanoidiA0AV02.
    KOiK14428.
    OMAiGRGPNKV.
    OrthoDBiEOG7VB2DV.
    PhylomeDBiA0AV02.
    TreeFamiTF313191.

    Family and domain databases

    InterProiIPR004841. AA-permease/SLC12A_dom.
    [Graphical view]
    PfamiPF00324. AA_permease. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A0AV02-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MTQMSQVQEL FHEAAQQDAL AQPQPWWKTQ LFMWEPVLFG TWDGVFTSCM    50
    INIFGVVLFL RTGWLVGNTG VLLGMFLVSF VILVALVTVL SGIGVGERSS 100
    IGSGGVYSMI SSVLGGQTGG TIGLLYVFGQ CVAGAMYITG FAESISDLLG 150
    LGNIWAVRGI SVAVLLALLG INLAGVKWII RLQLLLLFLL AVSTLDFVVG 200
    SFTHLDPEHG FIGYSPELLQ NNTLPDYSPG ESFFTVFGVF FPAATGVMAG 250
    FNMGGDLREP AASIPPGSLA AVGISWFLYI IFVFLLGAIC TREALRYDFL 300
    IAEKVSLMGF LFLLGLYISS LASCMGGLYG APRILQCIAQ EKVIPALACL 350
    GQGKGPNKTP VAAICLTSLV TMAFVFVGQV NVLAPIVTIN FMLTYVAVDY 400
    SYFSLSMCSC SLTPVPEPVL REGAEGLHCS EHLLLEKAPS YGSEGPAQRV 450
    LEGTLLEFTK DMDQLLQLTR KLESSQPRQG EGNRTPESQK RKSKKATKQT 500
    LQDSFLLDLK SPPSFPVEIS DRLPAASWEG QESCWNKQTS KSEGTQPEGT 550
    YGEQLVPELC NQSESSGEDF FLKSRLQEQD VWRRSTSFYT HMCNPWVSLL 600
    GAVGSLLIMF VIQWVYTLVN MGVAAIVYFY IGRASPGLHL GSASNFSFFR 650
    WMRSLLLPSC RSLRSPQEQI ILAPSLAKVD MEMTQLTQEN ADFATRDRYH 700
    HSSLVNREQL MPHY 714
    Length:714
    Mass (Da):78,223
    Last modified:May 18, 2010 - v3
    Checksum:i9B7C070C2FB04507
    GO
    Isoform 2 (identifier: A0AV02-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-17: MTQMSQVQELFHEAAQQ → MLPLERTITYRDMSSFIQVKNHFNVVNVTCVSYRSTCFRDMRRFIL

    Note: No experimental confirmation available.

    Show »
    Length:743
    Mass (Da):81,806
    Checksum:i1707569985931744
    GO
    Isoform 3 (identifier: A0AV02-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-199: Missing.
         200-245: GSFTHLDPEH...VFGVFFPAAT → MRRAAAGGLA...SPHSPSGCLS

    Note: No experimental confirmation available.

    Show »
    Length:515
    Mass (Da):56,160
    Checksum:i6107608E3AA3990C
    GO
    Isoform 4 (identifier: A0AV02-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-247: Missing.
         569-661: DFFLKSRLQE...MRSLLLPSCR → G

    Note: No experimental confirmation available.

    Show »
    Length:375
    Mass (Da):41,059
    Checksum:iBFE78B167C8FEB09
    GO
    Isoform 5 (identifier: A0AV02-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-406: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:308
    Mass (Da):34,799
    Checksum:iAF232C6971B2A80C
    GO

    Sequence cautioni

    The sequence AAH63528.1 differs from that shown. Reason: Frameshift at position 569.
    The sequence AAH20506.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH63528.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAM73657.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence CAD97969.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAK94307.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti111 – 1111S → P in CAH18426. (PubMed:17974005)Curated
    Sequence conflicti319 – 3191S → P in AAM73657. (PubMed:11863360)Curated
    Sequence conflicti433 – 4331L → P in CAG33644. (PubMed:15489334)Curated
    Sequence conflicti481 – 4811E → D in BAB15571. (PubMed:14702039)Curated
    Sequence conflicti512 – 5121P → L in CAH18426. (PubMed:17974005)Curated
    Sequence conflicti555 – 5551L → P in CAD97969. (PubMed:17974005)Curated
    Sequence conflicti698 – 6981R → H in AAO49174. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti181 – 1811R → C.1 Publication
    Corresponds to variant rs2993631 [ dbSNP | Ensembl ].
    VAR_035199
    Natural varianti266 – 2661P → L.
    Corresponds to variant rs863642 [ dbSNP | Ensembl ].
    VAR_035200
    Natural varianti281 – 2811I → V.3 Publications
    Corresponds to variant rs621383 [ dbSNP | Ensembl ].
    VAR_062148
    Natural varianti541 – 5411K → R.
    Corresponds to variant rs6773138 [ dbSNP | Ensembl ].
    VAR_035201
    Natural varianti664 – 6641R → Q.1 Publication
    Corresponds to variant rs2981482 [ dbSNP | Ensembl ].
    VAR_035202

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 406406Missing in isoform 5. 1 PublicationVSP_028327Add
    BLAST
    Alternative sequencei1 – 247247Missing in isoform 4. 1 PublicationVSP_028328Add
    BLAST
    Alternative sequencei1 – 199199Missing in isoform 3. 1 PublicationVSP_028329Add
    BLAST
    Alternative sequencei1 – 1717MTQMS…EAAQQ → MLPLERTITYRDMSSFIQVK NHFNVVNVTCVSYRSTCFRD MRRFIL in isoform 2. 1 PublicationVSP_028330Add
    BLAST
    Alternative sequencei200 – 24546GSFTH…FPAAT → MRRAAAGGLAVGQLPGEGPA GEEGAALGKAMRGGGCSPHS PSGCLS in isoform 3. 1 PublicationVSP_028331Add
    BLAST
    Alternative sequencei569 – 66193DFFLK…LPSCR → G in isoform 4. 1 PublicationVSP_028332Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF389851 Genomic DNA. Translation: AAK94307.1. Sequence problems.
    AF390442 mRNA. Translation: AAM73657.1. Different initiation.
    AF345197 mRNA. Translation: AAO49174.1.
    AK026841 mRNA. Translation: BAB15571.1.
    BX538023 mRNA. Translation: CAD97969.1. Different initiation.
    CR749632 mRNA. Translation: CAH18426.1.
    AC055752 Genomic DNA. No translation available.
    AC108688 Genomic DNA. No translation available.
    AC117488 Genomic DNA. No translation available.
    BC020506 mRNA. Translation: AAH20506.1. Different initiation.
    BC063528 mRNA. Translation: AAH63528.1. Sequence problems.
    BC126158 mRNA. Translation: AAI26159.1.
    BC126160 mRNA. Translation: AAI26161.1.
    CR457363 mRNA. Translation: CAG33644.1.
    CCDSiCCDS43143.1. [A0AV02-1]
    RefSeqiNP_001182412.1. NM_001195483.1.
    NP_078904.3. NM_024628.5.
    UniGeneiHs.658514.

    Genome annotation databases

    EnsembliENST00000393469; ENSP00000377112; ENSG00000221955. [A0AV02-1]
    ENST00000430155; ENSP00000415713; ENSG00000221955. [A0AV02-3]
    ENST00000469902; ENSP00000418783; ENSG00000221955. [A0AV02-1]
    GeneIDi84561.
    KEGGihsa:84561.
    UCSCiuc003eht.4. human. [A0AV02-3]
    uc003ehv.4. human. [A0AV02-1]
    uc003ehw.4. human. [A0AV02-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF389851 Genomic DNA. Translation: AAK94307.1 . Sequence problems.
    AF390442 mRNA. Translation: AAM73657.1 . Different initiation.
    AF345197 mRNA. Translation: AAO49174.1 .
    AK026841 mRNA. Translation: BAB15571.1 .
    BX538023 mRNA. Translation: CAD97969.1 . Different initiation.
    CR749632 mRNA. Translation: CAH18426.1 .
    AC055752 Genomic DNA. No translation available.
    AC108688 Genomic DNA. No translation available.
    AC117488 Genomic DNA. No translation available.
    BC020506 mRNA. Translation: AAH20506.1 . Different initiation.
    BC063528 mRNA. Translation: AAH63528.1 . Sequence problems.
    BC126158 mRNA. Translation: AAI26159.1 .
    BC126160 mRNA. Translation: AAI26161.1 .
    CR457363 mRNA. Translation: CAG33644.1 .
    CCDSi CCDS43143.1. [A0AV02-1 ]
    RefSeqi NP_001182412.1. NM_001195483.1.
    NP_078904.3. NM_024628.5.
    UniGenei Hs.658514.

    3D structure databases

    ProteinModelPortali A0AV02.
    ModBasei Search...
    MobiDBi Search...

    Protein family/group databases

    TCDBi 2.A.30.3.4. the cation-chloride cotransporter (ccc) family.

    PTM databases

    PhosphoSitei A0AV02.

    Proteomic databases

    MaxQBi A0AV02.
    PaxDbi A0AV02.
    PRIDEi A0AV02.

    Protocols and materials databases

    DNASUi 84561.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000393469 ; ENSP00000377112 ; ENSG00000221955 . [A0AV02-1 ]
    ENST00000430155 ; ENSP00000415713 ; ENSG00000221955 . [A0AV02-3 ]
    ENST00000469902 ; ENSP00000418783 ; ENSG00000221955 . [A0AV02-1 ]
    GeneIDi 84561.
    KEGGi hsa:84561.
    UCSCi uc003eht.4. human. [A0AV02-3 ]
    uc003ehv.4. human. [A0AV02-1 ]
    uc003ehw.4. human. [A0AV02-2 ]

    Organism-specific databases

    CTDi 84561.
    GeneCardsi GC03M124832.
    HGNCi HGNC:15595. SLC12A8.
    HPAi HPA031123.
    MIMi 611316. gene.
    neXtProti NX_A0AV02.
    PharmGKBi PA37991.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0531.
    HOVERGENi HBG108430.
    InParanoidi A0AV02.
    KOi K14428.
    OMAi GRGPNKV.
    OrthoDBi EOG7VB2DV.
    PhylomeDBi A0AV02.
    TreeFami TF313191.

    Miscellaneous databases

    ChiTaRSi SLC12A8. human.
    GeneWikii SLC12A8.
    GenomeRNAii 84561.
    NextBioi 74454.
    PROi A0AV02.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi A0AV02.
    Bgeei A0AV02.
    Genevestigatori A0AV02.

    Family and domain databases

    InterProi IPR004841. AA-permease/SLC12A_dom.
    [Graphical view ]
    Pfami PF00324. AA_permease. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map."
      Hewett D., Samuelsson L., Polding J., Enlund F., Smart D., Cantone K., See C.G., Chadha S., Inerot A., Enerback C., Montgomery D., Christodolou C., Robinson P., Matthews P., Plumpton M., Wahlstrom J., Swanbeck G., Martinsson T.
      , Roses A., Riley J., Purvis I.
      Genomics 79:305-314(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUSCEPTIBILITY TO PSORIASIS, FUNCTION, TISSUE SPECIFICITY, VARIANTS CYS-181 AND VAL-281.
    2. "Characterization of Homo sapiens CCC9, a novel member of the cation-chloride cotransporter gene family."
      Mount D.B.
      Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VAL-281 AND GLN-664.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
      Tissue: Lung.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
      Tissue: Endometrial adenocarcinoma and Salivary gland.
    5. "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].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), VARIANT VAL-281.
      Tissue: Colon and Lymph.
    7. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 407-714 (ISOFORM 1).
    8. "Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris."
      Hueffmeier U., Lascorz J., Traupe H., Boehm B., Schuermeier-Horst F., Staender M., Kelsch R., Baumann C., Kuester W., Burkhardt H., Reis A.
      J. Invest. Dermatol. 125:906-912(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUSCEPTIBILITY TO PSORIASIS.

    Entry informationi

    Entry nameiS12A8_HUMAN
    AccessioniPrimary (citable) accession number: A0AV02
    Secondary accession number(s): C9JJJ2
    , Q68D04, Q6I9Z2, Q6P4C0, Q7Z3A6, Q86WK0, Q8NFX9, Q8WUI3, Q96RF9, Q9H5P9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 2, 2007
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 61 of the entry and version 3 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