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Q9NP91

- S6A20_HUMAN

UniProt

Q9NP91 - S6A20_HUMAN

Protein

Sodium- and chloride-dependent transporter XTRP3

Gene

SLC6A20

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids. Involved in the transport of glycine.2 Publications

    GO - Molecular functioni

    1. amino acid transmembrane transporter activity Source: UniProtKB
    2. neurotransmitter:sodium symporter activity Source: InterPro

    GO - Biological processi

    1. amino acid transport Source: UniProtKB
    2. glycine transport Source: UniProtKB
    3. ion transport Source: Reactome
    4. proline transport Source: UniProtKB
    5. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Amino-acid 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.22.6.8. the neurotransmitter:sodium symporter (nss) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium- and chloride-dependent transporter XTRP3
    Alternative name(s):
    Sodium/imino-acid transporter 1
    Solute carrier family 6 member 20
    Transporter rB21A homolog
    Gene namesi
    Name:SLC6A20
    Synonyms:SIT1, XT3, XTRP3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:30927. SLC6A20.

    Subcellular locationi

    Apical cell membrane By similarity; Multi-pass membrane protein By similarity
    Note: Located in the apical brush border membrane of kidney proximal tubule cells.By similarity

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.
    Note: The disease is caused by mutations affecting the gene represented in this entry. Haploinsufficiency of SLC6A20 combined with deficiency of the neutral amino acid transporter SLC6A19 or partially inactivating mutations in SLC36A2, is responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.

    Organism-specific databases

    MIMi138500. phenotype.
    242600. phenotype.
    Orphaneti42062. Iminoglycinuria.
    PharmGKBiPA134865308.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 592592Sodium- and chloride-dependent transporter XTRP3PRO_0000214812Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi131 – 1311N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi357 – 3571N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9NP91.
    PRIDEiQ9NP91.

    Expressioni

    Tissue specificityi

    Kidney and small intestine. Expressed in the S3 segment of the proximal tubule.2 Publications

    Gene expression databases

    ArrayExpressiQ9NP91.
    BgeeiQ9NP91.
    CleanExiHS_SIT1.
    HS_SLC6A20.
    GenevestigatoriQ9NP91.

    Organism-specific databases

    HPAiHPA029873.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000346298.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NP91.
    SMRiQ9NP91. Positions 5-265.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 55CytoplasmicSequence Analysis
    Topological domaini27 – 4216ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini64 – 7916CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini101 – 16565ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini187 – 1948CytoplasmicSequence Analysis
    Topological domaini216 – 24126ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini263 – 27614CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini298 – 38992ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini411 – 43121CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini453 – 46513ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini487 – 50418CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini526 – 55429ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini576 – 59217CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei6 – 2621Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei43 – 6321Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei80 – 10021Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei166 – 18621Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei195 – 21521Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei242 – 26221Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei277 – 29721Helical; Name=7Sequence AnalysisAdd
    BLAST
    Transmembranei390 – 41021Helical; Name=8Sequence AnalysisAdd
    BLAST
    Transmembranei432 – 45221Helical; Name=9Sequence AnalysisAdd
    BLAST
    Transmembranei466 – 48621Helical; Name=10Sequence AnalysisAdd
    BLAST
    Transmembranei505 – 52521Helical; Name=11Sequence AnalysisAdd
    BLAST
    Transmembranei555 – 57521Helical; Name=12Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0733.
    HOGENOMiHOG000116406.
    HOVERGENiHBG071421.
    InParanoidiQ9NP91.
    KOiK05048.
    OMAiATNGLMY.
    OrthoDBiEOG793B71.
    PhylomeDBiQ9NP91.
    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NP91-1) [UniParc]FASTAAdd to Basket

    Also known as: XT3

    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

    MEKARPLWAN SLQFVFACIS YAVGLGNVWR FPYLCQMYGG GSFLVPYIIM    50
    LIVEGMPLLY LELAVGQRMR QGSIGAWRTI SPYLSGVGVA SVVVSFFLSM 100
    YYNVINAWAF WYLFHSFQDP LPWSVCPLNG NHTGYDEECE KASSTQYFWY 150
    RKTLNISPSL QENGGVQWEP ALCLLLAWLV VYLCILRGTE STGKVVYFTA 200
    SLPYCVLIIY LIRGLTLHGA TNGLMYMFTP KIEQLANPKA WINAATQIFF 250
    SLGLGFGSLI AFASYNEPSN NCQKHAIIVS LINSFTSIFA SIVTFSIYGF 300
    KATFNYENCL KKVSLLLTNT FDLEDGFLTA SNLEQVKGYL ASAYPSKYSE 350
    MFPQIKNCSL ESELDTAVQG TGLAFIVYTE AIKNMEVSQL WSVLYFFMLL 400
    MLGIGSMLGN TAAILTPLTD SKIISSHLPK EAISGLVCLV NCAIGMVFTM 450
    EAGNYWFDIF NDYAATLSLL LIVLVETIAV CYVYGLRRFE SDLKAMTGRA 500
    VSWYWKVMWA GVSPLLIVSL FVFYLSDYIL TGTLKYQAWD ASQGQLVTKD 550
    YPAYALAVIG LLVASSTMCI PLAALGTFVQ RRLKRGDADP VA 592
    Length:592
    Mass (Da):65,914
    Last modified:October 1, 2000 - v1
    Checksum:iAF6E94E19895377F
    GO
    Isoform 2 (identifier: Q9NP91-2) [UniParc]FASTAAdd to Basket

    Also known as: XT3a

    The sequence of this isoform differs from the canonical sequence as follows:
         195-231: Missing.

    Show »
    Length:555
    Mass (Da):61,751
    Checksum:iA7CE6C1CE318CF69
    GO

    Sequence cautioni

    The sequence AAL75944.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti31 – 311F → N in AAC27755. 1 PublicationCurated
    Sequence conflicti217 – 2171L → V in AAC27755. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91A → G.
    Corresponds to variant rs2271615 [ dbSNP | Ensembl ].
    VAR_021862
    Natural varianti199 – 1991T → M Common variant that contributes to hyperglycinuria and iminoglycinuria in patients carrying variants in SLC36A2, SLC6A19 or SLC6A18; results in SLC6A20 inactivation due to a 8-fold decrease of Vmax. 1 Publication
    Corresponds to variant rs17279437 [ dbSNP | Ensembl ].
    VAR_052068

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei195 – 23137Missing in isoform 2. 2 PublicationsVSP_050002Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ276207 mRNA. Translation: CAB99310.1.
    AJ276208 mRNA. Translation: CAB99311.1.
    AJ289880 Genomic DNA. Translation: CAB96872.1.
    AF125107 mRNA. Translation: AAL75944.1. Different initiation.
    CH471055 Genomic DNA. Translation: EAW64748.1.
    BC126197 mRNA. Translation: AAI26198.1.
    BC136431 mRNA. Translation: AAI36432.1.
    AF075260 mRNA. Translation: AAC27755.1.
    AL389979 mRNA. Translation: CAB97535.1.
    CCDSiCCDS2730.1. [Q9NP91-2]
    CCDS43077.1. [Q9NP91-1]
    RefSeqiNP_064593.1. NM_020208.3. [Q9NP91-1]
    NP_071800.1. NM_022405.3. [Q9NP91-2]
    UniGeneiHs.413095.

    Genome annotation databases

    EnsembliENST00000353278; ENSP00000296133; ENSG00000163817. [Q9NP91-2]
    ENST00000358525; ENSP00000346298; ENSG00000163817. [Q9NP91-1]
    GeneIDi54716.
    KEGGihsa:54716.
    UCSCiuc011bai.2. human. [Q9NP91-1]
    uc011baj.2. human. [Q9NP91-2]

    Polymorphism databases

    DMDMi46397768.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ276207 mRNA. Translation: CAB99310.1 .
    AJ276208 mRNA. Translation: CAB99311.1 .
    AJ289880 Genomic DNA. Translation: CAB96872.1 .
    AF125107 mRNA. Translation: AAL75944.1 . Different initiation.
    CH471055 Genomic DNA. Translation: EAW64748.1 .
    BC126197 mRNA. Translation: AAI26198.1 .
    BC136431 mRNA. Translation: AAI36432.1 .
    AF075260 mRNA. Translation: AAC27755.1 .
    AL389979 mRNA. Translation: CAB97535.1 .
    CCDSi CCDS2730.1. [Q9NP91-2 ]
    CCDS43077.1. [Q9NP91-1 ]
    RefSeqi NP_064593.1. NM_020208.3. [Q9NP91-1 ]
    NP_071800.1. NM_022405.3. [Q9NP91-2 ]
    UniGenei Hs.413095.

    3D structure databases

    ProteinModelPortali Q9NP91.
    SMRi Q9NP91. Positions 5-265.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000346298.

    Protein family/group databases

    TCDBi 2.A.22.6.8. the neurotransmitter:sodium symporter (nss) family.

    Polymorphism databases

    DMDMi 46397768.

    Proteomic databases

    PaxDbi Q9NP91.
    PRIDEi Q9NP91.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000353278 ; ENSP00000296133 ; ENSG00000163817 . [Q9NP91-2 ]
    ENST00000358525 ; ENSP00000346298 ; ENSG00000163817 . [Q9NP91-1 ]
    GeneIDi 54716.
    KEGGi hsa:54716.
    UCSCi uc011bai.2. human. [Q9NP91-1 ]
    uc011baj.2. human. [Q9NP91-2 ]

    Organism-specific databases

    CTDi 54716.
    GeneCardsi GC03M045796.
    HGNCi HGNC:30927. SLC6A20.
    HPAi HPA029873.
    MIMi 138500. phenotype.
    242600. phenotype.
    605616. gene.
    neXtProti NX_Q9NP91.
    Orphaneti 42062. Iminoglycinuria.
    PharmGKBi PA134865308.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0733.
    HOGENOMi HOG000116406.
    HOVERGENi HBG071421.
    InParanoidi Q9NP91.
    KOi K05048.
    OMAi ATNGLMY.
    OrthoDBi EOG793B71.
    PhylomeDBi Q9NP91.
    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 SLC6A20.
    GenomeRNAii 54716.
    NextBioi 57286.
    PROi Q9NP91.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NP91.
    Bgeei Q9NP91.
    CleanExi HS_SIT1.
    HS_SLC6A20.
    Genevestigatori Q9NP91.

    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. "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3."
      Kiss H., Kedra D., Kiss C., Kost-Alimova M., Yang Y., Klein G., Imreh S., Dumanski J.P.
      Genomics 73:10-19(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
    2. "Cloning of a new human cDNA similar to Rattus norvegicus neurotransmitter transporter rB21a."
      Zhou Y., Yu L., Zhao S.Y.
      Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 2).
    5. "Cloning, gene structure, and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms."
      Nash S.R., Giros B., Kingsmore S.F., Kim K.M., El-Mestikawy S., Dong Q., Fumagalli F., Seldin M.F., Caron M.G.
      Recept. Channels 6:113-128(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-315 (ISOFORM 1), TISSUE SPECIFICITY.
    6. The European IMAGE consortium
      Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 232-592.
    7. "Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino."
      Takanaga H., Mackenzie B., Suzuki Y., Hediger M.A.
      J. Biol. Chem. 280:8974-8984(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    8. "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: FUNCTION, TISSUE SPECIFICITY, VARIANT MET-199, CHARACTERIZATION OF VARIANT MET-199, INVOLVEMENT IN HG AND IG.

    Entry informationi

    Entry nameiS6A20_HUMAN
    AccessioniPrimary (citable) accession number: Q9NP91
    Secondary accession number(s): A1A4F2
    , O75590, Q8TF10, Q9NPQ2, Q9NQ77
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2004
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 106 of the entry and version 1 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