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Q96S37

- S22AC_HUMAN

UniProt

Q96S37 - S22AC_HUMAN

Protein

Solute carrier family 22 member 12

Gene

SLC22A12

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 Dec 2001)
      Previous versions | rss
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    Functioni

    Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions.1 Publication

    GO - Molecular functioni

    1. PDZ domain binding Source: UniProtKB
    2. urate transmembrane transporter activity Source: UniProtKB

    GO - Biological processi

    1. cellular homeostasis Source: UniProtKB
    2. organic acid transport Source: GOC
    3. response to drug Source: UniProtKB
    4. transmembrane transport Source: Reactome
    5. urate metabolic process Source: BHF-UCL
    6. urate transport Source: UniProtKB

    Keywords - Biological processi

    Ion transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_22310. Organic anion transport.

    Protein family/group databases

    TCDBi2.A.1.19.11. the major facilitator superfamily (mfs).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 22 member 12
    Alternative name(s):
    Organic anion transporter 4-like protein
    Renal-specific transporter
    Short name:
    RST
    Urate anion exchanger 1
    Gene namesi
    Name:SLC22A12
    Synonyms:OATL4, URAT1
    ORF Names:UNQ6453/PRO34004
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:17989. SLC22A12.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Note: Detected in the luminal membrane of the epithelium of renal proximal tubules.

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. brush border membrane Source: UniProtKB
    3. extracellular vesicular exosome Source: UniProt
    4. integral component of membrane Source: UniProtKB
    5. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hypouricemia renal 1 (RHUC1) [MIM:220150]: A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901R → H in RHUC1; strongly reduced urate transport. 3 Publications
    VAR_036721
    Natural varianti138 – 1381V → M in RHUC1; strongly reduced urate transport. 1 Publication
    VAR_036723
    Natural varianti164 – 1641G → S in RHUC1; reduced urate transport. 1 Publication
    VAR_036724
    Natural varianti217 – 2171T → M in RHUC1; strongly reduced urate transport. 2 Publications
    VAR_036725
    Natural varianti298 – 2981E → D in RHUC1; strongly reduced urate transport. 2 Publications
    VAR_036730
    Natural varianti382 – 3821Q → L in RHUC1; strongly reduced urate transport. 2 Publications
    VAR_036734
    Natural varianti418 – 4181L → R in RHUC1; strongly reduced urate transport. 1 Publication
    VAR_036735
    Natural varianti430 – 4301M → T in RHUC1; reduced urate transport. 1 Publication
    VAR_036736
    Natural varianti477 – 4771R → H in RHUC1. 2 Publications
    VAR_036737

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi220150. phenotype.
    Orphaneti94088. Hereditary renal hypouricemia.
    PharmGKBiPA38478.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 553553Solute carrier family 22 member 12PRO_0000307944Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi56 – 561N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi102 – 1021N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ96S37.
    PRIDEiQ96S37.

    PTM databases

    PhosphoSiteiQ96S37.

    Expressioni

    Tissue specificityi

    Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex.2 Publications

    Gene expression databases

    ArrayExpressiQ96S37.
    BgeeiQ96S37.
    CleanExiHS_SLC22A12.
    GenevestigatoriQ96S37.

    Organism-specific databases

    HPAiHPA024575.

    Interactioni

    Subunit structurei

    Interacts with PDZK1.2 Publications

    Protein-protein interaction databases

    BioGridi125471. 1 interaction.
    STRINGi9606.ENSP00000366797.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96S37.
    SMRiQ96S37. Positions 150-287.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei9 – 2921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei146 – 16621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei174 – 19421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei195 – 21521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei232 – 25221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei260 – 28021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei351 – 37121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei378 – 39821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei407 – 42721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei435 – 45521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei466 – 48621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei495 – 51521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG238692.
    HOVERGENiHBG108433.
    InParanoidiQ96S37.
    KOiK08208.
    OMAiPIMWLTT.
    OrthoDBiEOG7NW68T.
    PhylomeDBiQ96S37.
    TreeFamiTF315847.

    Family and domain databases

    InterProiIPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view]
    PfamiPF07690. MFS_1. 1 hit.
    [Graphical view]
    SUPFAMiSSF103473. SSF103473. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96S37-1) [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

    MAFSELLDLV GGLGRFQVLQ TMALMVSIMW LCTQSMLENF SAAVPSHRCW    50
    APLLDNSTAQ ASILGSLSPE ALLAISIPPG PNQRPHQCRR FRQPQWQLLD 100
    PNATATSWSE ADTEPCVDGW VYDRSIFTST IVAKWNLVCD SHALKPMAQS 150
    IYLAGILVGA AACGPASDRF GRRLVLTWSY LQMAVMGTAA AFAPAFPVYC 200
    LFRFLLAFAV AGVMMNTGTL LMEWTAARAR PLVMTLNSLG FSFGHGLTAA 250
    VAYGVRDWTL LQLVVSVPFF LCFLYSWWLA ESARWLLTTG RLDWGLQELW 300
    RVAAINGKGA VQDTLTPEVL LSAMREELSM GQPPASLGTL LRMPGLRFRT 350
    CISTLCWFAF GFTFFGLALD LQALGSNIFL LQMFIGVVDI PAKMGALLLL 400
    SHLGRRPTLA ASLLLAGLCI LANTLVPHEM GALRSALAVL GLGGVGAAFT 450
    CITIYSSELF PTVLRMTAVG LGQMAARGGA ILGPLVRLLG VHGPWLPLLV 500
    YGTVPVLSGL AALLLPETQS LPLPDTIQDV QNQAVKKATH GTLGNSVLKS 550
    TQF 553
    Length:553
    Mass (Da):59,630
    Last modified:December 1, 2001 - v1
    Checksum:iE3F29F38129BAD61
    GO
    Isoform 2 (identifier: Q96S37-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         170-277: Missing.

    Show »
    Length:445
    Mass (Da):47,648
    Checksum:i5385EA4A75ABD7C4
    GO
    Isoform 3 (identifier: Q96S37-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-221: Missing.

    Show »
    Length:332
    Mass (Da):35,570
    Checksum:i0080739C739B384B
    GO
    Isoform 4 (identifier: Q96S37-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         187-221: GTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLL → V

    Show »
    Length:519
    Mass (Da):56,094
    Checksum:iA29300D5DC37247A
    GO

    Sequence cautioni

    The sequence BAB68364.1 differs from that shown. Reason: Frameshift at positions 84 and 136.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti451 – 4511C → Y in AAQ88550. (PubMed:12975309)Curated
    Sequence conflicti538 – 5381A → T in AK315061. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651G → W.
    Corresponds to variant rs12800450 [ dbSNP | Ensembl ].
    VAR_036720
    Natural varianti90 – 901R → H in RHUC1; strongly reduced urate transport. 3 Publications
    VAR_036721
    Natural varianti92 – 921R → C.1 Publication
    VAR_036722
    Natural varianti138 – 1381V → M in RHUC1; strongly reduced urate transport. 1 Publication
    VAR_036723
    Natural varianti164 – 1641G → S in RHUC1; reduced urate transport. 1 Publication
    VAR_036724
    Natural varianti217 – 2171T → M in RHUC1; strongly reduced urate transport. 2 Publications
    VAR_036725
    Natural varianti226 – 2261A → V.1 Publication
    Corresponds to variant rs145738825 [ dbSNP | Ensembl ].
    VAR_036726
    Natural varianti284 – 2841R → G in some gout patients; uncertain pathological significance. 1 Publication
    VAR_036727
    Natural varianti290 – 2901G → C in some gout patients; uncertain pathological significance. 1 Publication
    VAR_036728
    Natural varianti297 – 2971Q → E in some gout patients; uncertain pathological significance. 1 Publication
    VAR_036729
    Natural varianti298 – 2981E → D in RHUC1; strongly reduced urate transport. 2 Publications
    VAR_036730
    Natural varianti305 – 3051I → S in some gout patients; uncertain pathological significance. 1 Publication
    VAR_036731
    Natural varianti312 – 3121Q → L.1 Publication
    VAR_036732
    Natural varianti313 – 33321Missing Affects urate transport.
    VAR_036733Add
    BLAST
    Natural varianti382 – 3821Q → L in RHUC1; strongly reduced urate transport. 2 Publications
    VAR_036734
    Natural varianti418 – 4181L → R in RHUC1; strongly reduced urate transport. 1 Publication
    VAR_036735
    Natural varianti430 – 4301M → T in RHUC1; reduced urate transport. 1 Publication
    VAR_036736
    Natural varianti477 – 4771R → H in RHUC1. 2 Publications
    VAR_036737

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 221221Missing in isoform 3. CuratedVSP_054054Add
    BLAST
    Alternative sequencei170 – 277108Missing in isoform 2. 1 PublicationVSP_028879Add
    BLAST
    Alternative sequencei187 – 22135GTAAA…TGTLL → V in isoform 4. 1 PublicationVSP_054055Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB071863 mRNA. Translation: BAB96750.1.
    AC044790 Genomic DNA. Translation: AAK68156.1.
    AY358183 mRNA. Translation: AAQ88550.1.
    AB050269 mRNA. Translation: BAB68364.1. Frameshift.
    AK315061 mRNA. No translation available.
    AP001092 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW74273.1.
    CH471076 Genomic DNA. Translation: EAW74274.1.
    BC053348 mRNA. Translation: AAH53348.1.
    DQ514593 Genomic DNA. Translation: ABF74570.1.
    DQ514594 Genomic DNA. Translation: ABF74571.1.
    DQ514595 Genomic DNA. Translation: ABF74572.1.
    DQ514596 Genomic DNA. Translation: ABF74573.1.
    CCDSiCCDS60835.1. [Q96S37-4]
    CCDS60836.1. [Q96S37-2]
    CCDS8075.1. [Q96S37-1]
    RefSeqiNP_001263255.1. NM_001276326.1. [Q96S37-4]
    NP_001263256.1. NM_001276327.1. [Q96S37-2]
    NP_653186.2. NM_144585.3. [Q96S37-1]
    NP_700357.1. NM_153378.2. [Q96S37-3]
    UniGeneiHs.174424.
    Hs.700182.

    Genome annotation databases

    EnsembliENST00000336464; ENSP00000336836; ENSG00000197891. [Q96S37-4]
    ENST00000377567; ENSP00000366790; ENSG00000197891. [Q96S37-2]
    ENST00000377572; ENSP00000366795; ENSG00000197891. [Q96S37-2]
    ENST00000377574; ENSP00000366797; ENSG00000197891. [Q96S37-1]
    ENST00000473690; ENSP00000438437; ENSG00000197891. [Q96S37-3]
    GeneIDi116085.
    KEGGihsa:116085.
    UCSCiuc001oal.2. human. [Q96S37-1]
    uc001oan.2. human. [Q96S37-2]

    Polymorphism databases

    DMDMi74732700.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB071863 mRNA. Translation: BAB96750.1 .
    AC044790 Genomic DNA. Translation: AAK68156.1 .
    AY358183 mRNA. Translation: AAQ88550.1 .
    AB050269 mRNA. Translation: BAB68364.1 . Frameshift.
    AK315061 mRNA. No translation available.
    AP001092 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW74273.1 .
    CH471076 Genomic DNA. Translation: EAW74274.1 .
    BC053348 mRNA. Translation: AAH53348.1 .
    DQ514593 Genomic DNA. Translation: ABF74570.1 .
    DQ514594 Genomic DNA. Translation: ABF74571.1 .
    DQ514595 Genomic DNA. Translation: ABF74572.1 .
    DQ514596 Genomic DNA. Translation: ABF74573.1 .
    CCDSi CCDS60835.1. [Q96S37-4 ]
    CCDS60836.1. [Q96S37-2 ]
    CCDS8075.1. [Q96S37-1 ]
    RefSeqi NP_001263255.1. NM_001276326.1. [Q96S37-4 ]
    NP_001263256.1. NM_001276327.1. [Q96S37-2 ]
    NP_653186.2. NM_144585.3. [Q96S37-1 ]
    NP_700357.1. NM_153378.2. [Q96S37-3 ]
    UniGenei Hs.174424.
    Hs.700182.

    3D structure databases

    ProteinModelPortali Q96S37.
    SMRi Q96S37. Positions 150-287.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125471. 1 interaction.
    STRINGi 9606.ENSP00000366797.

    Chemistry

    BindingDBi Q96S37.
    ChEMBLi CHEMBL6120.
    GuidetoPHARMACOLOGYi 1031.

    Protein family/group databases

    TCDBi 2.A.1.19.11. the major facilitator superfamily (mfs).

    PTM databases

    PhosphoSitei Q96S37.

    Polymorphism databases

    DMDMi 74732700.

    Proteomic databases

    PaxDbi Q96S37.
    PRIDEi Q96S37.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000336464 ; ENSP00000336836 ; ENSG00000197891 . [Q96S37-4 ]
    ENST00000377567 ; ENSP00000366790 ; ENSG00000197891 . [Q96S37-2 ]
    ENST00000377572 ; ENSP00000366795 ; ENSG00000197891 . [Q96S37-2 ]
    ENST00000377574 ; ENSP00000366797 ; ENSG00000197891 . [Q96S37-1 ]
    ENST00000473690 ; ENSP00000438437 ; ENSG00000197891 . [Q96S37-3 ]
    GeneIDi 116085.
    KEGGi hsa:116085.
    UCSCi uc001oal.2. human. [Q96S37-1 ]
    uc001oan.2. human. [Q96S37-2 ]

    Organism-specific databases

    CTDi 116085.
    GeneCardsi GC11P064359.
    HGNCi HGNC:17989. SLC22A12.
    HPAi HPA024575.
    MIMi 220150. phenotype.
    607096. gene.
    neXtProti NX_Q96S37.
    Orphaneti 94088. Hereditary renal hypouricemia.
    PharmGKBi PA38478.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238692.
    HOVERGENi HBG108433.
    InParanoidi Q96S37.
    KOi K08208.
    OMAi PIMWLTT.
    OrthoDBi EOG7NW68T.
    PhylomeDBi Q96S37.
    TreeFami TF315847.

    Enzyme and pathway databases

    Reactomei REACT_22310. Organic anion transport.

    Miscellaneous databases

    ChiTaRSi SLC22A12. human.
    GeneWikii SLC22A12.
    GenomeRNAii 116085.
    NextBioi 79751.
    PROi Q96S37.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96S37.
    Bgeei Q96S37.
    CleanExi HS_SLC22A12.
    Genevestigatori Q96S37.

    Family and domain databases

    InterProi IPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view ]
    Pfami PF07690. MFS_1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS RHUC1 MET-217 AND ASP-298, CHARACTERIZATION OF VARIANTS RHUC1 MET-217 AND ASP-298.
      Tissue: Kidney.
    2. "Sequencing of human RST gene."
      Rowen L., Madan A., Qin S., Baradarani L., Birditt B., Bloom S., Burke J., Dors M., Fleetwood P., Kaur A., Madan A., Nesbitt R., Pate D., Hood L.
      Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    4. "Human organic anion transporter 4 similar gene."
      Koyama K.
      Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Kidney.
    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] (ISOFORM 4).
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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 1).
      Tissue: Colon.
    9. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 278-318, VARIANT RHUC1 ASP-298, VARIANTS GLY-284; CYS-290; GLU-297 AND SER-305.
    10. Cited for: INTERACTION WITH PDZK1.
    11. "The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus."
      Anzai N., Miyazaki H., Noshiro R., Khamdang S., Chairoungdua A., Shin H.J., Enomoto A., Sakamoto S., Hirata T., Tomita K., Kanai Y., Endou H.
      J. Biol. Chem. 279:45942-45950(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PDZK1, TISSUE SPECIFICITY.
    12. "Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion."
      Ichida K., Hosoyamada M., Hisatome I., Enomoto A., Hikita M., Endou H., Hosoya T.
      J. Am. Soc. Nephrol. 15:164-173(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RHUC1 HIS-90; MET-138; SER-164; MET-217; LEU-382 AND THR-430, CHARACTERIZATION OF VARIANTS RHUC1 HIS-90; MET-138; SER-164; MET-217; LEU-382 AND THR-430.
    13. "A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese."
      Iwai N., Mino Y., Hosoyamada M., Tago N., Kokubo Y., Endou H.
      Kidney Int. 66:935-944(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RHUC1 HIS-90 AND HIS-477, VARIANTS VAL-226; LEU-312 AND 313-ASP--PRO-333 DEL, CHARACTERIZATION OF VARIANT 313-ASP--PRO-333 DEL.
    14. Cited for: VARIANTS RHUC1 LEU-382 AND ARG-418, CHARACTERIZATION OF VARIANTS RHUC1 LEU-382 AND ARG-418.
    15. Cited for: VARIANTS RHUC1 HIS-90 AND HIS-477.
    16. "Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population."
      Graessler J., Graessler A., Unger S., Kopprasch S., Tausche A.-K., Kuhlisch E., Schroeder H.-E.
      Arthritis Rheum. 54:292-300(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CYS-92.

    Entry informationi

    Entry nameiS22AC_HUMAN
    AccessioniPrimary (citable) accession number: Q96S37
    Secondary accession number(s): B7WPG1
    , G3XAN7, Q19PF7, Q19PF8, Q19PF9, Q19PG0, Q6UXW3, Q96DT2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 2007
    Last sequence update: December 1, 2001
    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 11
      Human chromosome 11: 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