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Q96N87

- S6A18_HUMAN

UniProt

Q96N87 - S6A18_HUMAN

Protein

Sodium-dependent neutral amino acid transporter B(0)AT3

Gene

SLC6A18

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    Functions as a sodium and chloride-dependent neutral amino acid transporter.By similarity

    GO - Molecular functioni

    1. neurotransmitter:sodium symporter activity Source: InterPro

    GO - Biological processi

    1. amino acid transport Source: Reactome
    2. ion transport Source: Reactome
    3. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Amino-acid transport, Neurotransmitter transport, Symport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_13796. Amino acid transport across the plasma membrane.
    REACT_20506. Na+/Cl- dependent neurotransmitter transporters.

    Protein family/group databases

    TCDBi2.A.22.6.4. the neurotransmitter:sodium symporter (nss) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium-dependent neutral amino acid transporter B(0)AT3
    Alternative name(s):
    Sodium- and chloride-dependent transporter XTRP2
    Solute carrier family 6 member 18
    System B(0) neutral amino acid transporter AT3
    Gene namesi
    Name:SLC6A18
    Synonyms:XTRP2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:26441. SLC6A18.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: InterPro
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Genetic variations in SLC6A18 might contribute to the disease phentotype in some individuals with iminoglycinuria or hyperglycinuria, that carry variants in SLC36A2, SLC6A19 or SLC6A20.

    Organism-specific databases

    Orphaneti42062. Iminoglycinuria.
    PharmGKBiPA134982449.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 628628Sodium-dependent neutral amino acid transporter B(0)AT3PRO_0000214806Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi144 – 1441N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi168 – 1681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi174 – 1741N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi354 – 3541N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ96N87.
    PRIDEiQ96N87.

    PTM databases

    PhosphoSiteiQ96N87.

    Expressioni

    Tissue specificityi

    Abundantly expressed in kidney, but not in intestine.1 Publication

    Gene expression databases

    ArrayExpressiQ96N87.
    BgeeiQ96N87.
    CleanExiHS_SLC6A18.
    GenevestigatoriQ96N87.

    Organism-specific databases

    HPAiHPA011885.

    Interactioni

    Subunit structurei

    Associates with TMEM27. TMEM27 association is required for functional expression in kidney.By similarity

    Protein-protein interaction databases

    MINTiMINT-4723009.
    STRINGi9606.ENSP00000323549.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96N87.
    SMRiQ96N87. Positions 18-310.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2626CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini48 – 514ExtracellularSequence Analysis
    Topological domaini75 – 8814CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini112 – 17867ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini202 – 2076CytoplasmicSequence Analysis
    Topological domaini231 – 25323ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini277 – 28812CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini312 – 39988ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini423 – 44220CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini466 – 4749ExtracellularSequence Analysis
    Topological domaini498 – 51720CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini541 – 56828ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini592 – 62837CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei27 – 4721Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei52 – 7423Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei89 – 11123Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei179 – 20123Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei208 – 23023Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei254 – 27623Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei289 – 31123Helical; Name=7Sequence AnalysisAdd
    BLAST
    Transmembranei400 – 42223Helical; Name=8Sequence AnalysisAdd
    BLAST
    Transmembranei443 – 46523Helical; Name=9Sequence AnalysisAdd
    BLAST
    Transmembranei475 – 49723Helical; Name=10Sequence AnalysisAdd
    BLAST
    Transmembranei518 – 54023Helical; Name=11Sequence AnalysisAdd
    BLAST
    Transmembranei569 – 59123Helical; Name=12Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0733.
    HOGENOMiHOG000116406.
    HOVERGENiHBG071421.
    InParanoidiQ96N87.
    KOiK05048.
    OMAiFDNFAAS.
    OrthoDBiEOG793B71.
    PhylomeDBiQ96N87.
    TreeFamiTF343812.

    Family and domain databases

    InterProiIPR000175. Na/ntran_symport.
    IPR002438. Na/ntran_symport_orphan.
    [Graphical view]
    PANTHERiPTHR11616. PTHR11616. 1 hit.
    PfamiPF00209. SNF. 1 hit.
    [Graphical view]
    PRINTSiPR00176. NANEUSMPORT.
    PR01206. ORPHTRNSPORT.
    PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
    PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
    PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96N87-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAHAPEPDPA ACDLGDERPK WDNKAQYLLS CTGFAVGLGN IWRFPYLCQT    50
    YGGGAFLIPY VIALVFEGIP IFHVELAIGQ RLRKGSVGVW TAISPYLSGV 100
    GLGCVTLSFL ISLYYNTIVA WVLWYLLNSF QHPLPWSSCP PDLNRTGFVE 150
    ECQGSSAVSY FWYRQTLNIT ADINDSGSIQ WWLLICLAAS WAVVYMCVIR 200
    GIETTGKVIY FTALFPYLVL TIFLIRGLTL PGATKGLIYL FTPNMHILQN 250
    PRVWLDAATQ IFFSLSLAFG GHIAFASYNS PRNDCQKDAV VIALVNRMTS 300
    LYASIAVFSV LGFKATNDYE HCLDRNILSL INDFDFPEQS ISRDDYPAVL 350
    MHLNATWPKR VAQLPLKACL LEDFLDKSAS GPGLAFVVFT ETDLHMPGAP 400
    VWAMLFFGML FTLGLSTMFG TVEAVITPLL DVGVLPRWVP KEALTGLVCL 450
    VCFLSATCFT LQSGNYWLEI FDNFAASPNL LMLAFLEVVG VVYVYGMKRF 500
    CDDIAWMTGR RPSPYWRLTW RVVSPLLLTI FVAYIILLFW KPLRYKAWNP 550
    KYELFPSRQE KLYPGWARAA CVLLSLLPVL WVPVAALAQL LTRRRRTWRD 600
    RDARPDTDMR PDTDTRPDTD MRPDTDMR 628
    Length:628
    Mass (Da):70,897
    Last modified:November 30, 2010 - v2
    Checksum:iDDFA217424060095
    GO

    Polymorphismi

    Genetic variation in SLC6A18 is not a significant predictor for elevated systolic or diastolic blood pressure and is not associated with hypertension in the Japanese population.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti4 – 41A → D.
    Corresponds to variant rs34469326 [ dbSNP | Ensembl ].
    VAR_057210
    Natural varianti12 – 121C → S.
    Corresponds to variant rs7728667 [ dbSNP | Ensembl ].
    VAR_027975
    Natural varianti32 – 321T → I.1 Publication
    Corresponds to variant rs7705355 [ dbSNP | Ensembl ].
    VAR_027976
    Natural varianti79 – 791G → S.1 Publication
    Corresponds to variant rs113861454 [ dbSNP | Ensembl ].
    VAR_064796
    Natural varianti478 – 4781P → L.2 Publications
    Corresponds to variant rs4073918 [ dbSNP | Ensembl ].
    VAR_027977
    Natural varianti496 – 4961G → R.1 Publication
    Corresponds to variant rs147278493 [ dbSNP | Ensembl ].
    VAR_064797

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK055798 mRNA. Translation: BAB71018.1.
    AC114291 Genomic DNA. No translation available.
    BC056757 mRNA. Translation: AAH56757.1.
    CCDSiCCDS3860.1.
    RefSeqiNP_872438.2. NM_182632.2.
    UniGeneiHs.213284.

    Genome annotation databases

    EnsembliENST00000324642; ENSP00000323549; ENSG00000164363.
    GeneIDi348932.
    KEGGihsa:348932.
    UCSCiuc003jby.2. human.

    Polymorphism databases

    DMDMi313104185.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK055798 mRNA. Translation: BAB71018.1 .
    AC114291 Genomic DNA. No translation available.
    BC056757 mRNA. Translation: AAH56757.1 .
    CCDSi CCDS3860.1.
    RefSeqi NP_872438.2. NM_182632.2.
    UniGenei Hs.213284.

    3D structure databases

    ProteinModelPortali Q96N87.
    SMRi Q96N87. Positions 18-310.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    MINTi MINT-4723009.
    STRINGi 9606.ENSP00000323549.

    Protein family/group databases

    TCDBi 2.A.22.6.4. the neurotransmitter:sodium symporter (nss) family.

    PTM databases

    PhosphoSitei Q96N87.

    Polymorphism databases

    DMDMi 313104185.

    Proteomic databases

    PaxDbi Q96N87.
    PRIDEi Q96N87.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000324642 ; ENSP00000323549 ; ENSG00000164363 .
    GeneIDi 348932.
    KEGGi hsa:348932.
    UCSCi uc003jby.2. human.

    Organism-specific databases

    CTDi 348932.
    GeneCardsi GC05P001281.
    H-InvDB HIX0004720.
    HGNCi HGNC:26441. SLC6A18.
    HPAi HPA011885.
    MIMi 610300. gene.
    neXtProti NX_Q96N87.
    Orphaneti 42062. Iminoglycinuria.
    PharmGKBi PA134982449.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0733.
    HOGENOMi HOG000116406.
    HOVERGENi HBG071421.
    InParanoidi Q96N87.
    KOi K05048.
    OMAi FDNFAAS.
    OrthoDBi EOG793B71.
    PhylomeDBi Q96N87.
    TreeFami TF343812.

    Enzyme and pathway databases

    Reactomei REACT_13796. Amino acid transport across the plasma membrane.
    REACT_20506. Na+/Cl- dependent neurotransmitter transporters.

    Miscellaneous databases

    GeneWikii SLC6A18.
    GenomeRNAii 348932.
    NextBioi 99455.
    PROi Q96N87.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96N87.
    Bgeei Q96N87.
    CleanExi HS_SLC6A18.
    Genevestigatori Q96N87.

    Family and domain databases

    InterProi IPR000175. Na/ntran_symport.
    IPR002438. Na/ntran_symport_orphan.
    [Graphical view ]
    PANTHERi PTHR11616. PTHR11616. 1 hit.
    Pfami PF00209. SNF. 1 hit.
    [Graphical view ]
    PRINTSi PR00176. NANEUSMPORT.
    PR01206. ORPHTRNSPORT.
    PROSITEi PS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
    PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
    PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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], VARIANTS ILE-32 AND LEU-478.
      Tissue: Kidney.
    2. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
      Tissue: Colon.
    4. Cited for: TISSUE SPECIFICITY.
    5. "A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese."
      Eslami B., Kinboshi M., Inoue S., Harada K., Inoue K., Koizumi A.
      Tohoku J. Exp. Med. 208:25-31(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: POLYMORPHISM, LACK OF ASSOCIATION WITH HYPERTENSION.
    6. "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters."
      Broer S., Bailey C.G., Kowalczuk S., Ng C., Vanslambrouck J.M., Rodgers H., Auray-Blais C., Cavanaugh J.A., Broer A., Rasko J.E.
      J. Clin. Invest. 118:3881-3892(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SER-79; LEU-478 AND ARG-496, POSSIBLE INVOLVEMENT IN HG AND IG.

    Entry informationi

    Entry nameiS6A18_HUMAN
    AccessioniPrimary (citable) accession number: Q96N87
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 99 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 5
      Human chromosome 5: 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