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P82251

- BAT1_HUMAN

UniProt

P82251 - BAT1_HUMAN

Protein

b(0,+)-type amino acid transporter 1

Gene

SLC7A9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.1 Publication

    GO - Molecular functioni

    1. amino acid transmembrane transporter activity Source: ProtInc
    2. L-cystine transmembrane transporter activity Source: ProtInc
    3. neutral amino acid transmembrane transporter activity Source: UniProtKB
    4. peptide antigen binding Source: UniProtKB
    5. protein binding Source: UniProtKB

    GO - Biological processi

    1. amino acid transport Source: Reactome
    2. blood coagulation Source: Reactome
    3. cellular amino acid metabolic process Source: ProtInc
    4. ion transport Source: Reactome
    5. L-cystine transport Source: GOC
    6. leukocyte migration Source: Reactome
    7. neutral amino acid transport Source: UniProtKB
    8. protein complex assembly Source: ProtInc
    9. transmembrane transport Source: Reactome
    10. transport Source: ProtInc

    Keywords - Biological processi

    Amino-acid transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_12560. Basigin interactions.
    REACT_13796. Amino acid transport across the plasma membrane.

    Protein family/group databases

    TCDBi2.A.3.8.19. the amino acid-polyamine-organocation (apc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    b(0,+)-type amino acid transporter 1
    Short name:
    b(0,+)AT1
    Alternative name(s):
    Glycoprotein-associated amino acid transporter b0,+AT1
    Solute carrier family 7 member 9
    Gene namesi
    Name:SLC7A9
    Synonyms:BAT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:11067. SLC7A9.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. brush border membrane Source: UniProtKB
    2. integral component of plasma membrane Source: ProtInc
    3. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101Missing in CSNU. 1 Publication
    VAR_018997
    Natural varianti44 – 441I → T in CSNU; type I. 1 Publication
    VAR_014363
    Natural varianti52 – 521P → L in CSNU. 1 Publication
    VAR_018998
    Natural varianti63 – 631G → R in CSNU. 1 Publication
    VAR_018999
    Natural varianti69 – 691W → L in CSNU. 1 Publication
    VAR_019000
    Natural varianti70 – 701A → V in CSNU; mild loss of amino acid transport activity. 1 Publication
    VAR_019001
    Natural varianti105 – 1051G → R in CSNU; type III; frequent mutation; severe loss of amino acid transport activity. 3 Publications
    Corresponds to variant rs121908480 [ dbSNP | Ensembl ].
    VAR_010256
    Natural varianti123 – 1231T → M in CSNU. 1 Publication
    Corresponds to variant rs79987078 [ dbSNP | Ensembl ].
    VAR_019002
    Natural varianti126 – 1261A → T in CSNU. 1 Publication
    VAR_019003
    Natural varianti158 – 1581A → AA in CSNU. 1 Publication
    VAR_019004
    Natural varianti170 – 1701V → M in CSNU; type III; frequent mutation; complete loss of amino acid transport activity. 2 Publications
    VAR_010257
    Natural varianti182 – 1821A → T in CSNU; type III; frequent mutation; mild loss of amino acid transport activity. 3 Publications
    Corresponds to variant rs79389353 [ dbSNP | Ensembl ].
    VAR_010258
    Natural varianti187 – 1871I → F in CSNU. 1 Publication
    VAR_019005
    Natural varianti193 – 1931I → II in CSNU. 1 Publication
    VAR_019006
    Natural varianti195 – 1951G → R in CSNU; type III. 2 Publications
    VAR_010259
    Natural varianti224 – 2241A → V in CSNU; non-classic type I. 1 Publication
    VAR_022603
    Natural varianti230 – 2301W → R in CSNU. 1 Publication
    VAR_019008
    Natural varianti241 – 2411I → T in CSNU. 1 Publication
    VAR_019009
    Natural varianti244 – 2441Missing in CSNU. 1 Publication
    VAR_019010
    Natural varianti259 – 2591G → R in CSNU; type III. 2 Publications
    VAR_010260
    Natural varianti261 – 2611P → L in CSNU; types I and III. 2 Publications
    VAR_014364
    Natural varianti330 – 3301V → M in CSNU; type III. 1 Publication
    VAR_015885
    Natural varianti331 – 3311A → V in CSNU; non-classic type I. 1 Publication
    VAR_022604
    Natural varianti333 – 3331R → W in CSNU; frequent mutation; severe loss of amino acid transport activity. 1 Publication
    VAR_019011
    Natural varianti354 – 3541A → T in CSNU; type III; severe loss of amino acid transport activity. 2 Publications
    VAR_014365
    Natural varianti379 – 3791S → R in CSNU. 1 Publication
    VAR_019012
    Natural varianti382 – 3821A → T in CSNU. 1 Publication
    VAR_019013

    Keywords - Diseasei

    Cystinuria, Disease mutation

    Organism-specific databases

    MIMi220100. phenotype.
    Orphaneti93613. Cystinuria type B.
    PharmGKBiPA35927.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 487487b(0,+)-type amino acid transporter 1PRO_0000054258Add
    BLAST

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    PRIDEiP82251.

    PTM databases

    PhosphoSiteiP82251.

    Expressioni

    Tissue specificityi

    Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta.2 Publications

    Gene expression databases

    ArrayExpressiP82251.
    BgeeiP82251.
    CleanExiHS_BAT1.
    HS_SLC7A9.
    GenevestigatoriP82251.

    Organism-specific databases

    HPAiHPA042591.

    Interactioni

    Subunit structurei

    Disulfide-linked heterodimer with the amino acid transport protein SLC3A1. Interacts with CAV1 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi116309. 2 interactions.
    IntActiP82251. 2 interactions.
    MINTiMINT-3023541.
    STRINGi9606.ENSP00000023064.

    Structurei

    3D structure databases

    ProteinModelPortaliP82251.
    SMRiP82251. Positions 30-365.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2929CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini51 – 6010ExtracellularSequence Analysis
    Topological domaini82 – 9918CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini121 – 14828ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini170 – 1789CytoplasmicSequence Analysis
    Topological domaini200 – 21011ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini232 – 25120CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini273 – 29624ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini318 – 34831CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini370 – 3745ExtracellularSequence Analysis
    Topological domaini396 – 40914CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini431 – 4344ExtracellularSequence Analysis
    Topological domaini456 – 48732CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei30 – 5021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei61 – 8121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei100 – 12021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei149 – 16921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei211 – 23121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei252 – 27221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei297 – 31721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei349 – 36921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei375 – 39521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei410 – 43021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei435 – 45521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0531.
    HOGENOMiHOG000098892.
    HOVERGENiHBG000476.
    InParanoidiP82251.
    KOiK13868.
    OMAiSFSEYVC.
    OrthoDBiEOG73BVCR.
    PhylomeDBiP82251.

    Family and domain databases

    InterProiIPR002293. AA/rel_permease1.
    [Graphical view]
    PANTHERiPTHR11785. PTHR11785. 1 hit.
    PfamiPF13520. AA_permease_2. 1 hit.
    [Graphical view]
    PIRSFiPIRSF006060. AA_transporter. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    P82251-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGDTGLRKRR EDEKSIQSQE PKTTSLQKEL GLISGISIIV GTIIGSGIFV    50
    SPKSVLSNTE AVGPCLIIWA ACGVLATLGA LCFAELGTMI TKSGGEYPYL 100
    MEAYGPIPAY LFSWASLIVI KPTSFAIICL SFSEYVCAPF YVGCKPPQIV 150
    VKCLAAAAIL FISTVNSLSV RLGSYVQNIF TAAKLVIVAI IIISGLVLLA 200
    QGNTKNFDNS FEGAQLSVGA ISLAFYNGLW AYDGWNQLNY ITEELRNPYR 250
    NLPLAIIIGI PLVTACYILM NVSYFTVMTA TELLQSQAVA VTFGDRVLYP 300
    ASWIVPLFVA FSTIGAANGT CFTAGRLIYV AGREGHMLKV LSYISVRRLT 350
    PAPAIIFYGI IATIYIIPGD INSLVNYFSF AAWLFYGLTI LGLIVMRFTR 400
    KELERPIKVP VVIPVLMTLI SVFLVLAPII SKPTWEYLYC VLFILSGLLF 450
    YFLFVHYKFG WAQKISKPIT MHLQMLMEVV PPEEDPE 487
    Length:487
    Mass (Da):53,481
    Last modified:May 1, 2000 - v1
    Checksum:iEF2C30DDE15594F1
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti52 – 521P → S in CAB54003. (PubMed:10588648)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101Missing in CSNU. 1 Publication
    VAR_018997
    Natural varianti44 – 441I → T in CSNU; type I. 1 Publication
    VAR_014363
    Natural varianti52 – 521P → L in CSNU. 1 Publication
    VAR_018998
    Natural varianti63 – 631G → R in CSNU. 1 Publication
    VAR_018999
    Natural varianti69 – 691W → L in CSNU. 1 Publication
    VAR_019000
    Natural varianti70 – 701A → V in CSNU; mild loss of amino acid transport activity. 1 Publication
    VAR_019001
    Natural varianti105 – 1051G → R in CSNU; type III; frequent mutation; severe loss of amino acid transport activity. 3 Publications
    Corresponds to variant rs121908480 [ dbSNP | Ensembl ].
    VAR_010256
    Natural varianti123 – 1231T → M in CSNU. 1 Publication
    Corresponds to variant rs79987078 [ dbSNP | Ensembl ].
    VAR_019002
    Natural varianti126 – 1261A → T in CSNU. 1 Publication
    VAR_019003
    Natural varianti142 – 1421V → A.
    Corresponds to variant rs12150889 [ dbSNP | Ensembl ].
    VAR_048153
    Natural varianti158 – 1581A → AA in CSNU. 1 Publication
    VAR_019004
    Natural varianti170 – 1701V → M in CSNU; type III; frequent mutation; complete loss of amino acid transport activity. 2 Publications
    VAR_010257
    Natural varianti182 – 1821A → T in CSNU; type III; frequent mutation; mild loss of amino acid transport activity. 3 Publications
    Corresponds to variant rs79389353 [ dbSNP | Ensembl ].
    VAR_010258
    Natural varianti187 – 1871I → F in CSNU. 1 Publication
    VAR_019005
    Natural varianti193 – 1931I → II in CSNU. 1 Publication
    VAR_019006
    Natural varianti195 – 1951G → R in CSNU; type III. 2 Publications
    VAR_010259
    Natural varianti223 – 2231L → M.1 Publication
    Corresponds to variant rs1007160 [ dbSNP | Ensembl ].
    VAR_019007
    Natural varianti224 – 2241A → V in CSNU; non-classic type I. 1 Publication
    VAR_022603
    Natural varianti230 – 2301W → R in CSNU. 1 Publication
    VAR_019008
    Natural varianti241 – 2411I → T in CSNU. 1 Publication
    VAR_019009
    Natural varianti244 – 2441Missing in CSNU. 1 Publication
    VAR_019010
    Natural varianti259 – 2591G → R in CSNU; type III. 2 Publications
    VAR_010260
    Natural varianti261 – 2611P → L in CSNU; types I and III. 2 Publications
    VAR_014364
    Natural varianti330 – 3301V → M in CSNU; type III. 1 Publication
    VAR_015885
    Natural varianti331 – 3311A → V in CSNU; non-classic type I. 1 Publication
    VAR_022604
    Natural varianti333 – 3331R → W in CSNU; frequent mutation; severe loss of amino acid transport activity. 1 Publication
    VAR_019011
    Natural varianti354 – 3541A → T in CSNU; type III; severe loss of amino acid transport activity. 2 Publications
    VAR_014365
    Natural varianti379 – 3791S → R in CSNU. 1 Publication
    VAR_019012
    Natural varianti382 – 3821A → T in CSNU. 1 Publication
    VAR_019013

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF141289 mRNA. Translation: AAD55898.1.
    AJ249199 mRNA. Translation: CAB54003.1.
    AB033548 mRNA. Translation: BAB16840.1.
    AF421181
    , AF421170, AF421171, AF421172, AF421173, AF421174, AF421175, AF421176, AF421177, AF421178, AF421179, AF421180 Genomic DNA. Translation: AAN40878.1.
    AK313708 mRNA. Translation: BAG36453.1.
    BC017962 mRNA. Translation: AAH17962.1.
    CCDSiCCDS12425.1.
    RefSeqiNP_001119807.1. NM_001126335.1.
    NP_001229965.1. NM_001243036.1.
    NP_055085.1. NM_014270.4.
    UniGeneiHs.743345.

    Genome annotation databases

    EnsembliENST00000023064; ENSP00000023064; ENSG00000021488.
    ENST00000587772; ENSP00000468439; ENSG00000021488.
    ENST00000590341; ENSP00000464822; ENSG00000021488.
    GeneIDi11136.
    KEGGihsa:11136.
    UCSCiuc002ntu.4. human.

    Polymorphism databases

    DMDMi12585187.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF141289 mRNA. Translation: AAD55898.1 .
    AJ249199 mRNA. Translation: CAB54003.1 .
    AB033548 mRNA. Translation: BAB16840.1 .
    AF421181
    , AF421170 , AF421171 , AF421172 , AF421173 , AF421174 , AF421175 , AF421176 , AF421177 , AF421178 , AF421179 , AF421180 Genomic DNA. Translation: AAN40878.1 .
    AK313708 mRNA. Translation: BAG36453.1 .
    BC017962 mRNA. Translation: AAH17962.1 .
    CCDSi CCDS12425.1.
    RefSeqi NP_001119807.1. NM_001126335.1.
    NP_001229965.1. NM_001243036.1.
    NP_055085.1. NM_014270.4.
    UniGenei Hs.743345.

    3D structure databases

    ProteinModelPortali P82251.
    SMRi P82251. Positions 30-365.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116309. 2 interactions.
    IntActi P82251. 2 interactions.
    MINTi MINT-3023541.
    STRINGi 9606.ENSP00000023064.

    Chemistry

    DrugBanki DB00138. L-Cystine.

    Protein family/group databases

    TCDBi 2.A.3.8.19. the amino acid-polyamine-organocation (apc) family.

    PTM databases

    PhosphoSitei P82251.

    Polymorphism databases

    DMDMi 12585187.

    Proteomic databases

    PRIDEi P82251.

    Protocols and materials databases

    DNASUi 11136.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000023064 ; ENSP00000023064 ; ENSG00000021488 .
    ENST00000587772 ; ENSP00000468439 ; ENSG00000021488 .
    ENST00000590341 ; ENSP00000464822 ; ENSG00000021488 .
    GeneIDi 11136.
    KEGGi hsa:11136.
    UCSCi uc002ntu.4. human.

    Organism-specific databases

    CTDi 11136.
    GeneCardsi GC19M033321.
    HGNCi HGNC:11067. SLC7A9.
    HPAi HPA042591.
    MIMi 220100. phenotype.
    604144. gene.
    neXtProti NX_P82251.
    Orphaneti 93613. Cystinuria type B.
    PharmGKBi PA35927.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0531.
    HOGENOMi HOG000098892.
    HOVERGENi HBG000476.
    InParanoidi P82251.
    KOi K13868.
    OMAi SFSEYVC.
    OrthoDBi EOG73BVCR.
    PhylomeDBi P82251.

    Enzyme and pathway databases

    Reactomei REACT_12560. Basigin interactions.
    REACT_13796. Amino acid transport across the plasma membrane.

    Miscellaneous databases

    GenomeRNAii 11136.
    NextBioi 42332.
    PROi P82251.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P82251.
    Bgeei P82251.
    CleanExi HS_BAT1.
    HS_SLC7A9.
    Genevestigatori P82251.

    Family and domain databases

    InterProi IPR002293. AA/rel_permease1.
    [Graphical view ]
    PANTHERi PTHR11785. PTHR11785. 1 hit.
    Pfami PF13520. AA_permease_2. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF006060. AA_transporter. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS CSNU ARG-105; MET-170; THR-182; ARG-195 AND ARG-259, CHARACTERIZATION OF VARIANT CSNU MET-170, FUNCTION, TISSUE SPECIFICITY.
      Tissue: Kidney.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Kidney.
    3. "Human cystinuria-related transporter: localization and functional characterization."
      Mizoguchi K., Cha S.H., Chairoungdua A., Kim J.Y., Shigeta Y., Matsuo H., Fukushima J., Awa Y., Akakura K., Goya T., Ito H., Endou H., Kanai Y.
      Kidney Int. 59:1821-1833(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Kidney.
    4. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CSNU THR-44; LEU-261 AND THR-354, VARIANT MET-223.
    5. "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].
      Tissue: Kidney.
    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].
      Tissue: Kidney.
    7. "rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney."
      Fernandez E., Carrascal M., Rousaud F., Abian J., Zorzano A., Palacin M., Chillaron J.
      Am. J. Physiol. 283:F540-F548(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    8. Cited for: VARIANTS CSNU ARG-10 DEL; LEU-52; ARG-63; LEU-69; VAL-70; ARG-105; MET-123; THR-126; ALA-158 INS; MET-170; THR-182; PHE-187; ILE-193 INS; ARG-195; ARG-230; THR-241; GLU-244 DEL; ARG-259; TRP-333; THR-354; ARG-379 AND THR-382, CHARACTERIZATION OF VARIANTS CSNU VAL-70; ARG-105; MET-170; THR-182; TRP-333 AND THR-354.
    9. "Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes."
      Botzenhart E., Vester U., Schmidt C., Hesse A., Halber M., Wagner C., Lang F., Hoyer P., Zerres K., Eggermann T.
      Kidney Int. 62:1136-1142(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CSNU ARG-105; VAL-224 AND VAL-331.
    10. "Mutation analysis of SLC7A9 in cystinuria patients in Sweden."
      Harnevik L., Fjellstedt E., Molbaek A., Denneberg T., Soderkvist P.
      Genet. Test. 7:13-20(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CSNU THR-182; LEU-261 AND MET-330.

    Entry informationi

    Entry nameiBAT1_HUMAN
    AccessioniPrimary (citable) accession number: P82251
    Secondary accession number(s): B2R9A6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 24, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 143 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 19
      Human chromosome 19: 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