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Q07837

- SLC31_HUMAN

UniProt

Q07837 - SLC31_HUMAN

Protein

Neutral and basic amino acid transport protein rBAT

Gene

SLC3A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 155 (01 Oct 2014)
      Sequence version 2 (10 May 2005)
      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). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule.4 Publications

    GO - Molecular functioni

    1. amino acid transmembrane transporter activity Source: ProtInc
    2. basic amino acid transmembrane transporter activity Source: ProtInc
    3. catalytic activity Source: InterPro
    4. cation binding Source: InterPro
    5. L-cystine transmembrane transporter activity Source: ProtInc
    6. protein binding Source: UniProtKB

    GO - Biological processi

    1. amino acid transmembrane transport Source: GOC
    2. amino acid transport Source: Reactome
    3. basic amino acid transport Source: ProtInc
    4. carbohydrate metabolic process Source: InterPro
    5. cellular amino acid metabolic process Source: ProtInc
    6. ion transport Source: Reactome
    7. L-cystine transport Source: ProtInc
    8. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Amino-acid transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_13796. Amino acid transport across the plasma membrane.

    Protein family/group databases

    CAZyiGH13. Glycoside Hydrolase Family 13.
    TCDBi8.A.9.1.2. the rbat transport accessory protein (rbat) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neutral and basic amino acid transport protein rBAT
    Short name:
    NBAT
    Alternative name(s):
    D2h
    Solute carrier family 3 member 1
    b(0,+)-type amino acid transport protein
    Gene namesi
    Name:SLC3A1
    Synonyms:RBAT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:11025. SLC3A1.

    Subcellular locationi

    Membrane 1 Publication; Single-pass type II membrane protein 1 Publication

    GO - Cellular componenti

    1. brush border membrane Source: UniProtKB
    2. extracellular vesicular exosome Source: UniProt
    3. integral component of plasma membrane Source: ProtInc
    4. membrane Source: ProtInc
    5. mitochondrial inner membrane Source: Ensembl
    6. plasma membrane Source: Reactome
    7. vacuolar membrane Source: Ensembl

    Keywords - Cellular componenti

    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.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti122 – 1221P → S in CSNU. 1 Publication
    VAR_064040
    Natural varianti128 – 1281P → Q in CSNU. 1 Publication
    VAR_011420
    Natural varianti151 – 1511Y → C in CSNU. 1 Publication
    VAR_038200
    Natural varianti181 – 1811R → Q in CSNU. 1 Publication
    VAR_011421
    Natural varianti216 – 2161T → M in CSNU. 1 Publication
    VAR_022600
    Natural varianti253 – 2531N → K in CSNU. 1 Publication
    VAR_038201
    Natural varianti268 – 2681E → K in CSNU; reduction in amino acid transport activity. 1 Publication
    VAR_011422
    Natural varianti341 – 3411T → A in CSNU; reduction in amino acid transport activity. 1 Publication
    VAR_011423
    Natural varianti362 – 3621R → C in CSNU. 1 Publication
    VAR_022601
    Natural varianti362 – 3621R → H in CSNU. 1 Publication
    VAR_038202
    Natural varianti365 – 3651R → W in CSNU. 2 Publications
    VAR_011424
    Natural varianti398 – 3981G → R in CSNU. 1 Publication
    VAR_038203
    Natural varianti452 – 4521R → W in CSNU. 1 Publication
    VAR_011425
    Natural varianti461 – 4611Y → H in CSNU. 2 Publications
    Corresponds to variant rs144162964 [ dbSNP | Ensembl ].
    VAR_011426
    Natural varianti467 – 4671M → K in CSNU. 1 Publication
    VAR_011428
    Natural varianti467 – 4671M → T in CSNU; loss of 80% of amino acid transport activity. 4 Publications
    VAR_011427
    Natural varianti481 – 4811G → V in CSNU. 1 Publication
    VAR_038204
    Natural varianti482 – 4821E → K in CSNU. 1 Publication
    VAR_038205
    Natural varianti508 – 5081P → A in CSNU. 1 Publication
    VAR_022602
    Natural varianti510 – 5101Q → R in CSNU. 1 Publication
    VAR_038206
    Natural varianti582 – 5821Y → H in CSNU. 1 Publication
    VAR_011429
    Natural varianti584 – 5841R → T in CSNU. 1 Publication
    VAR_038207
    Natural varianti599 – 5991F → S in CSNU. 1 Publication
    VAR_038208
    Natural varianti600 – 6001G → E in CSNU. 1 Publication
    VAR_038209
    Natural varianti615 – 6151P → T in CSNU. 1 Publication
    VAR_011430
    Natural varianti648 – 6481F → S in CSNU. 1 Publication
    VAR_011432
    Natural varianti652 – 6521T → R in CSNU. 1 Publication
    VAR_011433
    Natural varianti678 – 6781L → P in CSNU. 1 Publication
    VAR_011434
    Hypotonia-cystinuria syndrome (HCS) [MIM:606407]: Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Cystinuria, Disease mutation

    Organism-specific databases

    MIMi220100. phenotype.
    606407. phenotype.
    Orphaneti163693. 2p21 microdeletion syndrome.
    238523. Atypical hypotonia - cystinuria syndrome.
    93612. Cystinuria type A.
    163690. Hypotonia - cystinuria syndrome.
    PharmGKBiPA35893.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 685685Neutral and basic amino acid transport protein rBATPRO_0000071950Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi214 – 2141N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi261 – 2611N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi332 – 3321N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi495 – 4951N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi513 – 5131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi575 – 5751N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ07837.
    PRIDEiQ07837.

    PTM databases

    PhosphoSiteiQ07837.

    Expressioni

    Tissue specificityi

    Expressed in the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver.3 Publications

    Gene expression databases

    ArrayExpressiQ07837.
    BgeeiQ07837.
    CleanExiHS_SLC3A1.
    GenevestigatoriQ07837.

    Organism-specific databases

    HPAiHPA038360.

    Interactioni

    Subunit structurei

    Disulfide-linked heterodimer with the amino acid transport protein SLC7A9.2 Publications

    Protein-protein interaction databases

    BioGridi112410. 1 interaction.
    STRINGi9606.ENSP00000260649.

    Structurei

    3D structure databases

    ProteinModelPortaliQ07837.
    SMRiQ07837. Positions 115-650.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8787CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini109 – 685577ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei88 – 10821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0366.
    HOGENOMiHOG000220640.
    HOVERGENiHBG053002.
    InParanoidiQ07837.
    KOiK14210.
    OMAiTMYYGDE.
    PhylomeDBiQ07837.
    TreeFamiTF314498.

    Family and domain databases

    Gene3Di3.20.20.80. 2 hits.
    InterProiIPR015902. Glyco_hydro_13.
    IPR006047. Glyco_hydro_13_cat_dom.
    IPR006589. Glyco_hydro_13_sub_cat_dom.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    [Graphical view]
    PANTHERiPTHR10357. PTHR10357. 1 hit.
    PfamiPF00128. Alpha-amylase. 1 hit.
    [Graphical view]
    SMARTiSM00642. Aamy. 1 hit.
    [Graphical view]
    SUPFAMiSSF51445. SSF51445. 1 hit.

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: Q07837-1) [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

    MAEDKSKRDS IEMSMKGCQT NNGFVHNEDI LEQTPDPGSS TDNLKHSTRG    50
    ILGSQEPDFK GVQPYAGMPK EVLFQFSGQA RYRIPREILF WLTVASVLVL 100
    IAATIAIIAL SPKCLDWWQE GPMYQIYPRS FKDSNKDGNG DLKGIQDKLD 150
    YITALNIKTV WITSFYKSSL KDFRYGVEDF REVDPIFGTM EDFENLVAAI 200
    HDKGLKLIID FIPNHTSDKH IWFQLSRTRT GKYTDYYIWH DCTHENGKTI 250
    PPNNWLSVYG NSSWHFDEVR NQCYFHQFMK EQPDLNFRNP DVQEEIKEIL 300
    RFWLTKGVDG FSLDAVKFLL EAKHLRDEIQ VNKTQIPDTV TQYSELYHDF 350
    TTTQVGMHDI VRSFRQTMDQ YSTEPGRYRF MGTEAYAESI DRTVMYYGLP 400
    FIQEADFPFN NYLSMLDTVS GNSVYEVITS WMENMPEGKW PNWMIGGPDS 450
    SRLTSRLGNQ YVNVMNMLLF TLPGTPITYY GEEIGMGNIV AANLNESYDI 500
    NTLRSKSPMQ WDNSSNAGFS EASNTWLPTN SDYHTVNVDV QKTQPRSALK 550
    LYQDLSLLHA NELLLNRGWF CHLRNDSHYV VYTRELDGID RIFIVVLNFG 600
    ESTLLNLHNM ISGLPAKMRI RLSTNSADKG SKVDTSGIFL DKGEGLIFEH 650
    NTKNLLHRQT AFRDRCFVSN RACYSSVLNI LYTSC 685
    Length:685
    Mass (Da):78,852
    Last modified:May 10, 2005 - v2
    Checksum:iF9D6DFD548283899
    GO
    Isoform B (identifier: Q07837-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-278: Missing.

    Show »
    Length:407
    Mass (Da):46,728
    Checksum:i073D5E14EF8FEC59
    GO
    Isoform C (identifier: Q07837-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         380-391: FMGTEAYAESID → LTTAYALISSQA
         392-685: Missing.

    Show »
    Length:391
    Mass (Da):45,370
    Checksum:iBD09E3E0DAD64C0B
    GO
    Isoform D (identifier: Q07837-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-8: MAEDKSKR → MTLNLVNS
         9-377: Missing.

    Show »
    Length:316
    Mass (Da):35,913
    Checksum:i34F115707CF076E1
    GO
    Isoform E (identifier: Q07837-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         501-502: NT → VS
         503-685: Missing.

    Show »
    Length:502
    Mass (Da):57,998
    Checksum:i8EC96914C99BD5D7
    GO
    Isoform F (identifier: Q07837-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         541-564: QKTQPRSALKLYQDLSLLHANELL → SISENFMLILETKKWVSTESTHSP
         565-685: Missing.

    Show »
    Length:564
    Mass (Da):65,013
    Checksum:i00F102753414E97B
    GO
    Isoform G (identifier: Q07837-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         541-551: QKTQPRSALKL → LLRHPCSSAVA
         552-685: Missing.

    Show »
    Length:551
    Mass (Da):63,401
    Checksum:iB92CDFE941512647
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti122 – 1221P → S in CSNU. 1 Publication
    VAR_064040
    Natural varianti128 – 1281P → Q in CSNU. 1 Publication
    VAR_011420
    Natural varianti151 – 1511Y → C in CSNU. 1 Publication
    VAR_038200
    Natural varianti181 – 1811R → Q in CSNU. 1 Publication
    VAR_011421
    Natural varianti216 – 2161T → M in CSNU. 1 Publication
    VAR_022600
    Natural varianti253 – 2531N → K in CSNU. 1 Publication
    VAR_038201
    Natural varianti268 – 2681E → K in CSNU; reduction in amino acid transport activity. 1 Publication
    VAR_011422
    Natural varianti341 – 3411T → A in CSNU; reduction in amino acid transport activity. 1 Publication
    VAR_011423
    Natural varianti362 – 3621R → C in CSNU. 1 Publication
    VAR_022601
    Natural varianti362 – 3621R → H in CSNU. 1 Publication
    VAR_038202
    Natural varianti365 – 3651R → W in CSNU. 2 Publications
    VAR_011424
    Natural varianti398 – 3981G → R in CSNU. 1 Publication
    VAR_038203
    Natural varianti452 – 4521R → W in CSNU. 1 Publication
    VAR_011425
    Natural varianti461 – 4611Y → H in CSNU. 2 Publications
    Corresponds to variant rs144162964 [ dbSNP | Ensembl ].
    VAR_011426
    Natural varianti467 – 4671M → K in CSNU. 1 Publication
    VAR_011428
    Natural varianti467 – 4671M → T in CSNU; loss of 80% of amino acid transport activity. 4 Publications
    VAR_011427
    Natural varianti481 – 4811G → V in CSNU. 1 Publication
    VAR_038204
    Natural varianti482 – 4821E → K in CSNU. 1 Publication
    VAR_038205
    Natural varianti508 – 5081P → A in CSNU. 1 Publication
    VAR_022602
    Natural varianti510 – 5101Q → R in CSNU. 1 Publication
    VAR_038206
    Natural varianti582 – 5821Y → H in CSNU. 1 Publication
    VAR_011429
    Natural varianti584 – 5841R → T in CSNU. 1 Publication
    VAR_038207
    Natural varianti599 – 5991F → S in CSNU. 1 Publication
    VAR_038208
    Natural varianti600 – 6001G → E in CSNU. 1 Publication
    VAR_038209
    Natural varianti615 – 6151P → T in CSNU. 1 Publication
    VAR_011430
    Natural varianti618 – 6181M → I.8 Publications
    Corresponds to variant rs698761 [ dbSNP | Ensembl ].
    VAR_011431
    Natural varianti648 – 6481F → S in CSNU. 1 Publication
    VAR_011432
    Natural varianti652 – 6521T → R in CSNU. 1 Publication
    VAR_011433
    Natural varianti678 – 6781L → P in CSNU. 1 Publication
    VAR_011434

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 278278Missing in isoform B. 1 PublicationVSP_054339Add
    BLAST
    Alternative sequencei1 – 88MAEDKSKR → MTLNLVNS in isoform D. 1 PublicationVSP_054340
    Alternative sequencei9 – 377369Missing in isoform D. 1 PublicationVSP_054341Add
    BLAST
    Alternative sequencei380 – 39112FMGTE…AESID → LTTAYALISSQA in isoform C. 1 PublicationVSP_054342Add
    BLAST
    Alternative sequencei392 – 685294Missing in isoform C. 1 PublicationVSP_054343Add
    BLAST
    Alternative sequencei501 – 5022NT → VS in isoform E. 1 PublicationVSP_054344
    Alternative sequencei503 – 685183Missing in isoform E. 1 PublicationVSP_054345Add
    BLAST
    Alternative sequencei541 – 56424QKTQP…ANELL → SISENFMLILETKKWVSTES THSP in isoform F. 1 PublicationVSP_054346Add
    BLAST
    Alternative sequencei541 – 55111QKTQPRSALKL → LLRHPCSSAVA in isoform G. 1 PublicationVSP_054347Add
    BLAST
    Alternative sequencei552 – 685134Missing in isoform G. 1 PublicationVSP_054348Add
    BLAST
    Alternative sequencei565 – 685121Missing in isoform F. 1 PublicationVSP_054349Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M95548 mRNA. Translation: AAA35500.1.
    L11696 mRNA. Translation: AAA81778.1.
    D82326 mRNA. Translation: BAA11541.1.
    U60819
    , U60810, U60811, U60812, U60813, U60816, U60818, U60814, U60815 Genomic DNA. Translation: AAB39829.1.
    AB033549 mRNA. Translation: BAB16841.1.
    DQ023512 mRNA. Translation: AAY89643.1.
    DQ023513 mRNA. Translation: AAY89644.1.
    DQ023514 mRNA. Translation: AAY89645.1.
    DQ023515 mRNA. Translation: AAY89646.1.
    DQ023516 mRNA. Translation: AAY89647.1.
    DQ023517 mRNA. Translation: AAY89648.1.
    AK223146 mRNA. Translation: BAD96866.1.
    AK289636 mRNA. Translation: BAF82325.1.
    AC013717 Genomic DNA. Translation: AAX88955.1.
    BC022386 mRNA. Translation: AAH22386.1.
    BC093624 mRNA. Translation: AAH93624.1.
    BC093626 mRNA. Translation: AAH93626.1.
    CCDSiCCDS1819.1. [Q07837-1]
    PIRiA47102.
    RefSeqiNP_000332.2. NM_000341.3. [Q07837-1]
    UniGeneiHs.112916.

    Genome annotation databases

    EnsembliENST00000260649; ENSP00000260649; ENSG00000138079. [Q07837-1]
    ENST00000409229; ENSP00000386620; ENSG00000138079. [Q07837-6]
    ENST00000409380; ENSP00000386709; ENSG00000138079. [Q07837-2]
    ENST00000409740; ENSP00000386677; ENSG00000138079. [Q07837-4]
    ENST00000409741; ENSP00000386954; ENSG00000138079. [Q07837-5]
    ENST00000410056; ENSP00000387337; ENSG00000138079. [Q07837-3]
    GeneIDi6519.
    KEGGihsa:6519.
    UCSCiuc002ruc.4. human. [Q07837-1]

    Polymorphism databases

    DMDMi67472674.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Cysdb

    Cystinuria database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M95548 mRNA. Translation: AAA35500.1 .
    L11696 mRNA. Translation: AAA81778.1 .
    D82326 mRNA. Translation: BAA11541.1 .
    U60819
    , U60810 , U60811 , U60812 , U60813 , U60816 , U60818 , U60814 , U60815 Genomic DNA. Translation: AAB39829.1 .
    AB033549 mRNA. Translation: BAB16841.1 .
    DQ023512 mRNA. Translation: AAY89643.1 .
    DQ023513 mRNA. Translation: AAY89644.1 .
    DQ023514 mRNA. Translation: AAY89645.1 .
    DQ023515 mRNA. Translation: AAY89646.1 .
    DQ023516 mRNA. Translation: AAY89647.1 .
    DQ023517 mRNA. Translation: AAY89648.1 .
    AK223146 mRNA. Translation: BAD96866.1 .
    AK289636 mRNA. Translation: BAF82325.1 .
    AC013717 Genomic DNA. Translation: AAX88955.1 .
    BC022386 mRNA. Translation: AAH22386.1 .
    BC093624 mRNA. Translation: AAH93624.1 .
    BC093626 mRNA. Translation: AAH93626.1 .
    CCDSi CCDS1819.1. [Q07837-1 ]
    PIRi A47102.
    RefSeqi NP_000332.2. NM_000341.3. [Q07837-1 ]
    UniGenei Hs.112916.

    3D structure databases

    ProteinModelPortali Q07837.
    SMRi Q07837. Positions 115-650.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112410. 1 interaction.
    STRINGi 9606.ENSP00000260649.

    Chemistry

    DrugBanki DB00138. L-Cystine.

    Protein family/group databases

    CAZyi GH13. Glycoside Hydrolase Family 13.
    TCDBi 8.A.9.1.2. the rbat transport accessory protein (rbat) family.

    PTM databases

    PhosphoSitei Q07837.

    Polymorphism databases

    DMDMi 67472674.

    Proteomic databases

    PaxDbi Q07837.
    PRIDEi Q07837.

    Protocols and materials databases

    DNASUi 6519.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260649 ; ENSP00000260649 ; ENSG00000138079 . [Q07837-1 ]
    ENST00000409229 ; ENSP00000386620 ; ENSG00000138079 . [Q07837-6 ]
    ENST00000409380 ; ENSP00000386709 ; ENSG00000138079 . [Q07837-2 ]
    ENST00000409740 ; ENSP00000386677 ; ENSG00000138079 . [Q07837-4 ]
    ENST00000409741 ; ENSP00000386954 ; ENSG00000138079 . [Q07837-5 ]
    ENST00000410056 ; ENSP00000387337 ; ENSG00000138079 . [Q07837-3 ]
    GeneIDi 6519.
    KEGGi hsa:6519.
    UCSCi uc002ruc.4. human. [Q07837-1 ]

    Organism-specific databases

    CTDi 6519.
    GeneCardsi GC02P044414.
    HGNCi HGNC:11025. SLC3A1.
    HPAi HPA038360.
    MIMi 104614. gene.
    220100. phenotype.
    606407. phenotype.
    neXtProti NX_Q07837.
    Orphaneti 163693. 2p21 microdeletion syndrome.
    238523. Atypical hypotonia - cystinuria syndrome.
    93612. Cystinuria type A.
    163690. Hypotonia - cystinuria syndrome.
    PharmGKBi PA35893.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0366.
    HOGENOMi HOG000220640.
    HOVERGENi HBG053002.
    InParanoidi Q07837.
    KOi K14210.
    OMAi TMYYGDE.
    PhylomeDBi Q07837.
    TreeFami TF314498.

    Enzyme and pathway databases

    Reactomei REACT_13796. Amino acid transport across the plasma membrane.

    Miscellaneous databases

    ChiTaRSi SLC3A1. human.
    GeneWikii SLC3A1.
    GenomeRNAii 6519.
    NextBioi 25349.
    PROi Q07837.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q07837.
    Bgeei Q07837.
    CleanExi HS_SLC3A1.
    Genevestigatori Q07837.

    Family and domain databases

    Gene3Di 3.20.20.80. 2 hits.
    InterProi IPR015902. Glyco_hydro_13.
    IPR006047. Glyco_hydro_13_cat_dom.
    IPR006589. Glyco_hydro_13_sub_cat_dom.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    [Graphical view ]
    PANTHERi PTHR10357. PTHR10357. 1 hit.
    Pfami PF00128. Alpha-amylase. 1 hit.
    [Graphical view ]
    SMARTi SM00642. Aamy. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51445. SSF51445. 1 hit.
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    Publicationsi

    1. "Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport."
      Lee W.-S., Wells R.G., Sabbag R.V., Mohandas T.K., Hediger M.A.
      J. Clin. Invest. 91:1959-1963(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), FUNCTION, TISSUE SPECIFICITY, VARIANT ILE-618.
      Tissue: Kidney.
    2. Lee W.-S., Wells R.G., Sabbag R.V., Mohandas T.K., Hediger M.A.
      Submitted (JUN-1993) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION TO C-TERMINUS.
    3. "Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes."
      Bertran J., Werner A., Chillaron J., Nunes V., Biber J., Testar X., Zorzano A., Estivill X., Murer H., Palacin M.
      J. Biol. Chem. 268:14842-14849(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), FUNCTION, TISSUE SPECIFICITY.
      Tissue: Kidney cortex.
    4. "Effects of truncation of the COOH-terminal region of a Na+-independent neutral and basic amino acid transporter on amino acid transport in Xenopus oocytes."
      Miyamoto K., Segawa H., Tatsumi S., Katai K., Yamamoto H., Taketani Y., Haga H., Morita K., Takeda E.
      J. Biol. Chem. 271:16758-16763(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), VARIANT ILE-618, FUNCTION.
      Tissue: Kidney cortex.
    5. "Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria."
      Endsley J.K., Phillips J.A. III, Hruska K.A., Denneberg T., Carlson J., George A.L. Jr.
      Kidney Int. 51:1893-1899(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-618, VARIANTS CSNU TRP-452; HIS-461 AND THR-467.
    6. "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] (ISOFORM A), FUNCTION, VARIANT ILE-618.
      Tissue: Kidney.
    7. "The 2p21 deletion syndrome: characterization of the transcription content."
      Parvari R., Gonen Y., Alshafee I., Buriakovsky S., Regev K., Hershkovitz E.
      Genomics 86:195-211(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS B; C; D; E; F AND G), ALTERNATIVE SPLICING, VARIANT ILE-618.
    8. "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 A).
      Tissue: Amygdala.
    9. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
      Tissue: Kidney.
    10. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    11. "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] (ISOFORM A), VARIANT ILE-618.
      Tissue: Brain and Kidney.
    12. Cited for: SUBUNIT.
    13. "Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria."
      Calonge M.J., Volpini V., Bisceglia L., Rousaud F., de Sanctis L., Beccia E., Zelante L., Testar X., Zorzano A., Estivill X., Gasparini P., Nunes V., Palacin M.
      Proc. Natl. Acad. Sci. U.S.A. 92:9667-9671(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    14. "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.
    15. "Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome."
      Jaeken J., Martens K., Francois I., Eyskens F., Lecointre C., Derua R., Meulemans S., Slootstra J.W., Waelkens E., de Zegher F., Creemers J.W.M., Matthijs G.
      Am. J. Hum. Genet. 78:38-51(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN HCS.
    16. Cited for: VARIANTS CSNU GLN-181; LYS-467; THR-467; THR-615; ARG-652 AND PRO-678, CHARACTERIZATION OF VARIANT THR-467.
    17. "Mutations in the SLC3A1 transporter gene in cystinuria."
      Pras E., Raben N., Golomb E., Arber N., Aksentijevich I., Schapiro J.M., Harel D., Katz G., Liberman U., Pras M., Kastner D.L.
      Am. J. Hum. Genet. 56:1297-1303(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CSNU GLN-128.
    18. "Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity."
      Gasparini P., Calonge M.J., Bisceglia L., Purroy J., Dianzani I., Notarangelo A., Rousaud F., Gallucci M., Testar X., Ponzone A., Estivill X., Zorzano A., Palacin M., Nunes V., Zelante L.
      Am. J. Hum. Genet. 57:781-788(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CSNU TRP-365; HIS-582 AND SER-648, VARIANT ILE-618.
    19. "Mutations of the basic amino acid transporter gene associated with cystinuria."
      Miyamoto K., Katai K., Tatsumi S., Sone K., Segawa H., Yamamoto H., Taketani Y., Takada K., Morita K., Kanayama H., Kagawa S., Takeda E.
      Biochem. J. 310:951-955(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CSNU LYS-268 AND ALA-341, CHARACTERIZATION OF VARIANTS CSNU LYS-268 AND ALA-341.
    20. "Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics."
      Gitomer W.L., Reed B.Y., Pak C.Y.C.
      Hum. Mutat. 15:390-390(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CSNU SER-122.
    21. "Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients."
      Harnevik L., Fjellstedt E., Molbaek A., Tiselius H.-G., Denneberg T., Soederkvist P.
      Hum. Mutat. 18:516-525(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CSNU CYS-151; LYS-253; HIS-362; ARG-398; HIS-461; THR-467; VAL-481; LYS-482; ARG-510; THR-584; SER-599 AND GLU-600, VARIANT ILE-618.
    22. "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 MET-216; CYS-362; TRP-365; THR-467 AND ALA-508.

    Entry informationi

    Entry nameiSLC31_HUMAN
    AccessioniPrimary (citable) accession number: Q07837
    Secondary accession number(s): A8K0S1
    , O00658, Q15295, Q4J6B4, Q4J6B5, Q4J6B6, Q4J6B7, Q4J6B8, Q4J6B9, Q52M92, Q52M94
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: May 10, 2005
    Last modified: October 1, 2014
    This is version 155 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 2
      Human chromosome 2: 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

    External Data

    Dasty 3