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Q9NRM0

- GTR9_HUMAN

UniProt

Q9NRM0 - GTR9_HUMAN

Protein

Solute carrier family 2, facilitated glucose transporter member 9

Gene

SLC2A9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (13 Jul 2010)
      Previous versions | rss
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    Functioni

    Transport urate and fructose. May have a role in the urate reabsorption by proximal tubules. Also transports glucose at low rate.2 Publications

    GO - Molecular functioni

    1. glucose transmembrane transporter activity Source: Ensembl
    2. sugar:proton symporter activity Source: UniProtKB

    GO - Biological processi

    1. glucose transport Source: UniProtKB
    2. proton transport Source: GOC
    3. transmembrane transport Source: Reactome
    4. urate metabolic process Source: UniProtKB

    Keywords - Biological processi

    Sugar transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_19281. Class II GLUTs.

    Protein family/group databases

    TCDBi2.A.1.1.72. the major facilitator superfamily (mfs).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 2, facilitated glucose transporter member 9
    Alternative name(s):
    Glucose transporter type 9
    Short name:
    GLUT-9
    Gene namesi
    Name:SLC2A9
    Synonyms:GLUT9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:13446. SLC2A9.

    Subcellular locationi

    Membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    2. integral component of plasma membrane Source: Ensembl
    3. nuclear envelope Source: Ensembl
    4. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hypouricemia renal 2 (RHUC2) [MIM:612076]: 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti75 – 751L → R in RHUC2; reduced urate transport activity. 1 Publication
    VAR_065772
    Natural varianti125 – 1251T → M in RHUC2; markedly reduced urate transport activity. 1 Publication
    Corresponds to variant rs181509591 [ dbSNP | Ensembl ].
    VAR_065773
    Natural varianti171 – 1711R → C in RHUC2; markedly reduced urate transport activity. 1 Publication
    VAR_065774
    Natural varianti198 – 1981R → C in RHUC2; markedly reduced urate transport activity. 1 Publication
    VAR_065775
    Natural varianti380 – 3801R → W in RHUC2; markedly reduced urate transport activity. 1 Publication
    VAR_065776

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi612076. phenotype.
    Orphaneti94088. Hereditary renal hypouricemia.
    PharmGKBiPA37771.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 540540Solute carrier family 2, facilitated glucose transporter member 9PRO_0000050378Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi90 – 901N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9NRM0.
    PRIDEiQ9NRM0.

    PTM databases

    PhosphoSiteiQ9NRM0.

    Expressioni

    Tissue specificityi

    Most strongly expressed in basolateral membranes of proximal renal tubular cells, liver and placenta. Also detected in lung, blood leukocytes, heart skeletal muscle and chondrocytes from articular cartilage. Isoform 2 is only detected in the apical membranes of polarized renal tubular cells and placenta. Isoform 1 and isoform 2 are detected in kidney membrane (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiQ9NRM0.
    BgeeiQ9NRM0.
    CleanExiHS_SLC2A9.
    GenevestigatoriQ9NRM0.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000264784.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NRM0.
    SMRiQ9NRM0. Positions 161-510.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5151CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini73 – 10735ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini129 – 14012CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini162 – 17110ExtracellularSequence Analysis
    Topological domaini193 – 2008CytoplasmicSequence Analysis
    Topological domaini222 – 23110ExtracellularSequence Analysis
    Topological domaini253 – 31664CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini338 – 35417ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini376 – 3816CytoplasmicSequence Analysis
    Topological domaini403 – 41513ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini437 – 45115CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini473 – 4786ExtracellularSequence Analysis
    Topological domaini500 – 54041CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei52 – 7221Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei108 – 12821Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei141 – 16121Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei172 – 19221Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei201 – 22121Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei232 – 25221Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei317 – 33721Helical; Name=7Sequence AnalysisAdd
    BLAST
    Transmembranei355 – 37521Helical; Name=8Sequence AnalysisAdd
    BLAST
    Transmembranei382 – 40221Helical; Name=9Sequence AnalysisAdd
    BLAST
    Transmembranei416 – 43621Helical; Name=10Sequence AnalysisAdd
    BLAST
    Transmembranei452 – 47221Helical; Name=11Sequence AnalysisAdd
    BLAST
    Transmembranei479 – 49921Helical; Name=12Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni327 – 3337Monosaccharide bindingBy similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0477.
    HOGENOMiHOG000202871.
    HOVERGENiHBG014816.
    InParanoidiQ9NRM0.
    KOiK08146.
    OMAiVKAFQTF.
    OrthoDBiEOG7QVM2R.
    PhylomeDBiQ9NRM0.
    TreeFamiTF313762.

    Family and domain databases

    InterProiIPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR005828. Sub_transporter.
    IPR003663. Sugar/inositol_transpt.
    IPR005829. Sugar_transporter_CS.
    [Graphical view]
    PfamiPF00083. Sugar_tr. 1 hit.
    [Graphical view]
    PRINTSiPR00171. SUGRTRNSPORT.
    SUPFAMiSSF103473. SSF103473. 2 hits.
    TIGRFAMsiTIGR00879. SP. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    PS00216. SUGAR_TRANSPORT_1. 1 hit.
    PS00217. SUGAR_TRANSPORT_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NRM0-1) [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

    MARKQNRNSK ELGLVPLTDD TSHAGPPGPG RALLECDHLR SGVPGGRRRK    50
    DWSCSLLVAS LAGAFGSSFL YGYNLSVVNA PTPYIKAFYN ESWERRHGRP 100
    IDPDTLTLLW SVTVSIFAIG GLVGTLIVKM IGKVLGRKHT LLANNGFAIS 150
    AALLMACSLQ AGAFEMLIVG RFIMGIDGGV ALSVLPMYLS EISPKEIRGS 200
    LGQVTAIFIC IGVFTGQLLG LPELLGKEST WPYLFGVIVV PAVVQLLSLP 250
    FLPDSPRYLL LEKHNEARAV KAFQTFLGKA DVSQEVEEVL AESRVQRSIR 300
    LVSVLELLRA PYVRWQVVTV IVTMACYQLC GLNAIWFYTN SIFGKAGIPP 350
    AKIPYVTLST GGIETLAAVF SGLVIEHLGR RPLLIGGFGL MGLFFGTLTI 400
    TLTLQDHAPW VPYLSIVGIL AIIASFCSGP GGIPFILTGE FFQQSQRPAA 450
    FIIAGTVNWL SNFAVGLLFP FIQKSLDTYC FLVFATICIT GAIYLYFVLP 500
    ETKNRTYAEI SQAFSKRNKA YPPEEKIDSA VTDGKINGRP 540
    Length:540
    Mass (Da):58,702
    Last modified:July 13, 2010 - v2
    Checksum:iEEA40123DB5233B4
    GO
    Isoform 2 (identifier: Q9NRM0-2) [UniParc]FASTAAdd to Basket

    Also known as: GLUT9deltaN

    The sequence of this isoform differs from the canonical sequence as follows:
         1-50: MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRK → MKLSKKDRGEDEESDSAKKKL

    Show »
    Length:511
    Mass (Da):55,721
    Checksum:iCF8BD02FCBB0BC42
    GO

    Polymorphismi

    Genetic variations in SLC2A9 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 2 (UAQTL2) [MIMi:612076]. Excess serum accumulation of uric acid can lead to the development of gout.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221S → N.1 Publication
    VAR_045648
    Natural varianti25 – 251G → R.2 Publications
    Corresponds to variant rs2276961 [ dbSNP | Ensembl ].
    VAR_012157
    Natural varianti75 – 751L → R in RHUC2; reduced urate transport activity. 1 Publication
    VAR_065772
    Natural varianti125 – 1251T → M in RHUC2; markedly reduced urate transport activity. 1 Publication
    Corresponds to variant rs181509591 [ dbSNP | Ensembl ].
    VAR_065773
    Natural varianti171 – 1711R → C in RHUC2; markedly reduced urate transport activity. 1 Publication
    VAR_065774
    Natural varianti191 – 1911E → D.1 Publication
    VAR_045649
    Natural varianti198 – 1981R → C in RHUC2; markedly reduced urate transport activity. 1 Publication
    VAR_065775
    Natural varianti216 – 2161G → R.1 Publication
    VAR_045650
    Natural varianti275 – 2751T → M.1 Publication
    Corresponds to variant rs112404957 [ dbSNP | Ensembl ].
    VAR_045651
    Natural varianti281 – 2811D → H.2 Publications
    Corresponds to variant rs73225891 [ dbSNP | Ensembl ].
    VAR_045652
    Natural varianti282 – 2821V → I.1 Publication
    Corresponds to variant rs16890979 [ dbSNP | Ensembl ].
    VAR_012158
    Natural varianti294 – 2941R → H.
    Corresponds to variant rs3733591 [ dbSNP | Ensembl ].
    VAR_020337
    Natural varianti300 – 3001R → H.1 Publication
    Corresponds to variant rs145688560 [ dbSNP | Ensembl ].
    VAR_045653
    Natural varianti350 – 3501P → L.3 Publications
    Corresponds to variant rs2280205 [ dbSNP | Ensembl ].
    VAR_012159
    Natural varianti380 – 3801R → W in RHUC2; markedly reduced urate transport activity. 1 Publication
    VAR_065776
    Isoform 2 (identifier: Q9NRM0-2)
    Natural varianti17 – 171A → T in dbSNP:6820230.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5050MARKQ…GRRRK → MKLSKKDRGEDEESDSAKKK L in isoform 2. 1 PublicationVSP_034860Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF210317 mRNA. Translation: AAF85942.1.
    AC005674 Genomic DNA. No translation available.
    AC098976 Genomic DNA. No translation available.
    AC108199 Genomic DNA. Translation: AAY41052.1.
    BC018897 mRNA. Translation: AAH18897.1.
    BC110414 mRNA. Translation: AAI10415.1.
    AF421859 mRNA. Translation: AAL16939.1.
    CCDSiCCDS3406.1. [Q9NRM0-2]
    CCDS3407.1. [Q9NRM0-1]
    RefSeqiNP_001001290.1. NM_001001290.1. [Q9NRM0-2]
    NP_064425.2. NM_020041.2. [Q9NRM0-1]
    UniGeneiHs.656895.

    Genome annotation databases

    EnsembliENST00000264784; ENSP00000264784; ENSG00000109667. [Q9NRM0-1]
    ENST00000309065; ENSP00000311383; ENSG00000109667. [Q9NRM0-2]
    ENST00000506583; ENSP00000422209; ENSG00000109667. [Q9NRM0-2]
    GeneIDi56606.
    KEGGihsa:56606.
    UCSCiuc003gmc.3. human. [Q9NRM0-1]
    uc003gmd.3. human. [Q9NRM0-2]

    Polymorphism databases

    DMDMi300669647.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF210317 mRNA. Translation: AAF85942.1 .
    AC005674 Genomic DNA. No translation available.
    AC098976 Genomic DNA. No translation available.
    AC108199 Genomic DNA. Translation: AAY41052.1 .
    BC018897 mRNA. Translation: AAH18897.1 .
    BC110414 mRNA. Translation: AAI10415.1 .
    AF421859 mRNA. Translation: AAL16939.1 .
    CCDSi CCDS3406.1. [Q9NRM0-2 ]
    CCDS3407.1. [Q9NRM0-1 ]
    RefSeqi NP_001001290.1. NM_001001290.1. [Q9NRM0-2 ]
    NP_064425.2. NM_020041.2. [Q9NRM0-1 ]
    UniGenei Hs.656895.

    3D structure databases

    ProteinModelPortali Q9NRM0.
    SMRi Q9NRM0. Positions 161-510.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000264784.

    Chemistry

    ChEMBLi CHEMBL2052034.

    Protein family/group databases

    TCDBi 2.A.1.1.72. the major facilitator superfamily (mfs).

    PTM databases

    PhosphoSitei Q9NRM0.

    Polymorphism databases

    DMDMi 300669647.

    Proteomic databases

    PaxDbi Q9NRM0.
    PRIDEi Q9NRM0.

    Protocols and materials databases

    DNASUi 56606.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264784 ; ENSP00000264784 ; ENSG00000109667 . [Q9NRM0-1 ]
    ENST00000309065 ; ENSP00000311383 ; ENSG00000109667 . [Q9NRM0-2 ]
    ENST00000506583 ; ENSP00000422209 ; ENSG00000109667 . [Q9NRM0-2 ]
    GeneIDi 56606.
    KEGGi hsa:56606.
    UCSCi uc003gmc.3. human. [Q9NRM0-1 ]
    uc003gmd.3. human. [Q9NRM0-2 ]

    Organism-specific databases

    CTDi 56606.
    GeneCardsi GC04M009772.
    H-InvDB HIX0004090.
    HGNCi HGNC:13446. SLC2A9.
    MIMi 606142. gene.
    612076. phenotype.
    neXtProti NX_Q9NRM0.
    Orphaneti 94088. Hereditary renal hypouricemia.
    PharmGKBi PA37771.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0477.
    HOGENOMi HOG000202871.
    HOVERGENi HBG014816.
    InParanoidi Q9NRM0.
    KOi K08146.
    OMAi VKAFQTF.
    OrthoDBi EOG7QVM2R.
    PhylomeDBi Q9NRM0.
    TreeFami TF313762.

    Enzyme and pathway databases

    Reactomei REACT_19281. Class II GLUTs.

    Miscellaneous databases

    GeneWikii SLC2A9.
    GenomeRNAii 56606.
    NextBioi 62053.
    PROi Q9NRM0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NRM0.
    Bgeei Q9NRM0.
    CleanExi HS_SLC2A9.
    Genevestigatori Q9NRM0.

    Family and domain databases

    InterProi IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR005828. Sub_transporter.
    IPR003663. Sugar/inositol_transpt.
    IPR005829. Sugar_transporter_CS.
    [Graphical view ]
    Pfami PF00083. Sugar_tr. 1 hit.
    [Graphical view ]
    PRINTSi PR00171. SUGRTRNSPORT.
    SUPFAMi SSF103473. SSF103473. 2 hits.
    TIGRFAMsi TIGR00879. SP. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    PS00216. SUGAR_TRANSPORT_1. 1 hit.
    PS00217. SUGAR_TRANSPORT_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9)."
      Phay J.E., Hussain H.B., Moley J.F.
      Genomics 66:217-220(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARG-25 AND LEU-350.
      Tissue: Kidney.
    2. "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].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS ARG-25 AND LEU-350.
      Tissue: Lung and Ovary.
    4. "Human articular chondrocytes express three facilitative glucose transporter isoforms: GLUT1, GLUT3 and GLUT9."
      Mobasheri A., Neama G., Bell S., Richardson S., Carter S.D.
      Cell Biol. Int. 26:297-300(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-238 (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Articular cartilage.
    5. "Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking."
      Augustin R., Carayannopoulos M.O., Dowd L.O., Phay J.E., Moley J.F., Moley K.H.
      J. Biol. Chem. 279:16229-16236(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY (ISOFORMS 1 AND 2).
    6. Cited for: INVOLVEMENT IN THE REGULATION OF SERUM URIC ACID CONCENTRATION, VARIANTS ASP-191; HIS-281; ILE-282 AND LEU-350.
    7. Cited for: INVOLVEMENT IN THE REGULATION OF SERUM URIC ACID CONCENTRATION, FUNCTION, VARIANTS ASN-22; ARG-216; MET-275; HIS-281 AND HIS-300.
    8. Cited for: VARIANTS RHUC2 CYS-198 AND TRP-380, CHARACTERIZATION OF VARIANTS RHUC2 CYS-198 AND TRP-380.
    9. Cited for: VARIANT RHUC2 ARG-75, CHARACTERIZATION OF VARIANT RHUC2 ARG-75.
    10. Cited for: VARIANTS RHUC2 MET-125 AND CYS-171, CHARACTERIZATION OF VARIANTS RHUC2 MET-125 AND CYS-171.

    Entry informationi

    Entry nameiGTR9_HUMAN
    AccessioniPrimary (citable) accession number: Q9NRM0
    Secondary accession number(s): Q0VGC4
    , Q4W5D1, Q8WV30, Q96P00
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: July 13, 2010
    Last modified: October 1, 2014
    This is version 120 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 4
      Human chromosome 4: 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