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Q9HAW9

- UD18_HUMAN

UniProt

Q9HAW9 - UD18_HUMAN

Protein

UDP-glucuronosyltransferase 1-8

Gene

UGT1A8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.1 Publication

    Catalytic activityi

    UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.1 Publication

    GO - Molecular functioni

    1. drug binding Source: BHF-UCL
    2. enzyme binding Source: BHF-UCL
    3. enzyme inhibitor activity Source: BHF-UCL
    4. fatty acid binding Source: BHF-UCL
    5. glucuronosyltransferase activity Source: BHF-UCL
    6. protein heterodimerization activity Source: UniProt
    7. protein homodimerization activity Source: UniProt
    8. retinoic acid binding Source: BHF-UCL
    9. steroid binding Source: BHF-UCL

    GO - Biological processi

    1. coumarin metabolic process Source: BHF-UCL
    2. drug metabolic process Source: BHF-UCL
    3. fatty acid metabolic process Source: BHF-UCL
    4. flavone metabolic process Source: BHF-UCL
    5. flavonoid glucuronidation Source: BHF-UCL
    6. negative regulation of catalytic activity Source: GOC
    7. negative regulation of cellular glucuronidation Source: UniProtKB
    8. negative regulation of cellular metabolic process Source: BHF-UCL
    9. negative regulation of fatty acid metabolic process Source: BHF-UCL
    10. negative regulation of steroid metabolic process Source: BHF-UCL
    11. retinoic acid metabolic process Source: BHF-UCL
    12. steroid metabolic process Source: BHF-UCL
    13. xenobiotic glucuronidation Source: BHF-UCL

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    BioCyciMetaCyc:HS10706-MONOMER.
    BRENDAi2.4.1.17. 2681.
    ReactomeiREACT_6784. Glucuronidation.
    SABIO-RKQ9HAW9.

    Protein family/group databases

    CAZyiGT1. Glycosyltransferase Family 1.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UDP-glucuronosyltransferase 1-8 (EC:2.4.1.17)
    Short name:
    UDPGT 1-8
    Short name:
    UGT1*8
    Short name:
    UGT1-08
    Short name:
    UGT1.8
    Alternative name(s):
    UDP-glucuronosyltransferase 1-H
    Short name:
    UGT-1H
    Short name:
    UGT1H
    UDP-glucuronosyltransferase 1A8
    Gene namesi
    Name:UGT1A8
    Synonyms:GNT1, UGT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:12540. UGT1A8.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProt
    2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW
    4. intracellular membrane-bounded organelle Source: BHF-UCL

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37183.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 530505UDP-glucuronosyltransferase 1-8PRO_0000036007Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi71 – 711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi292 – 2921N-linked (GlcNAc...)1 Publication
    Glycosylationi344 – 3441N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PRIDEiQ9HAW9.

    PTM databases

    PhosphoSiteiQ9HAW9.

    Expressioni

    Tissue specificityi

    Colon specific. Isoform 1 and 2 are expressed in liver, kidney, colon and small intestine; isoform 2 but not isoform 1 is expressed in liver (PubMed:18004212).2 Publications

    Gene expression databases

    BgeeiQ9HAW9.
    GenevestigatoriQ9HAW9.

    Interactioni

    Subunit structurei

    Isoform 1 interacts with isoform 2/i2 suggesting that oligomerization is involved in negative regulation of transferase activity by isoform 2. Isoform 1 also interacts with respective i2 isoforms of UGT1A1, UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A9 and UGT1A10.1 Publication

    Protein-protein interaction databases

    IntActiQ9HAW9. 7 interactions.
    STRINGi9606.ENSP00000362549.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HAW9.
    SMRiQ9HAW9. Positions 280-441.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei488 – 50417HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the UDP-glycosyltransferase family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    HOGENOMiHOG000220832.
    HOVERGENiHBG004033.
    KOiK00699.
    OMAiFITEYEP.
    OrthoDBiEOG7GBFWS.
    PhylomeDBiQ9HAW9.
    TreeFamiTF315472.

    Family and domain databases

    InterProiIPR002213. UDP_glucos_trans.
    [Graphical view]
    PANTHERiPTHR11926. PTHR11926. 1 hit.
    PfamiPF00201. UDPGT. 1 hit.
    [Graphical view]
    PROSITEiPS00375. UDPGT. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HAW9-1) [UniParc]FASTAAdd to Basket

    Also known as: i1

    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

    MARTGWTSPI PLCVSLLLTC GFAEAGKLLV VPMDGSHWFT MQSVVEKLIL    50
    RGHEVVVVMP EVSWQLGKSL NCTVKTYSTS YTLEDLDREF MDFADAQWKA 100
    QVRSLFSLFL SSSNGFFNLF FSHCRSLFND RKLVEYLKES SFDAVFLDPF 150
    DACGLIVAKY FSLPSVVFAR GIACHYLEEG AQCPAPLSYV PRILLGFSDA 200
    MTFKERVRNH IMHLEEHLFC QYFSKNALEI ASEILQTPVT AYDLYSHTSI 250
    WLLRTDFVLD YPKPVMPNMI FIGGINCHQG KPLPMEFEAY INASGEHGIV 300
    VFSLGSMVSE IPEKKAMAIA DALGKIPQTV LWRYTGTRPS NLANNTILVK 350
    WLPQNDLLGH PMTRAFITHA GSHGVYESIC NGVPMVMMPL FGDQMDNAKR 400
    METKGAGVTL NVLEMTSEDL ENALKAVIND KSYKENIMRL SSLHKDRPVE 450
    PLDLAVFWVE FVMRHKGAPH LRPAAHDLTW YQYHSLDVIG FLLAVVLTVA 500
    FITFKCCAYG YRKCLGKKGR VKKAHKSKTH 530
    Length:530
    Mass (Da):59,742
    Last modified:March 1, 2001 - v1
    Checksum:iAD838436940F4190
    GO
    Isoform 2 (identifier: Q9HAW9-2) [UniParc]FASTAAdd to Basket

    Also known as: i2, UGT1A8s

    The sequence of this isoform differs from the canonical sequence as follows:
         432-530: SYKENIMRLS...VKKAHKSKTH → RKKQQSGRQM

    Show »
    Length:441
    Mass (Da):49,518
    Checksum:iCE3BAC9FD06D0565
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531H → N.
    Corresponds to variant rs45504099 [ dbSNP | Ensembl ].
    VAR_052463
    Natural varianti132 – 1321K → R.2 Publications
    VAR_015543
    Natural varianti144 – 1441A → V.1 Publication
    Corresponds to variant rs17862841 [ dbSNP | Ensembl ].
    VAR_058585
    Natural varianti154 – 1541G → A.2 Publications
    VAR_015544
    Natural varianti173 – 1731A → G in allele UGT1A8*2. 5 Publications
    Corresponds to variant rs1042597 [ dbSNP | Ensembl ].
    VAR_015545
    Natural varianti173 – 1731A → V.
    Corresponds to variant rs1042597 [ dbSNP | Ensembl ].
    VAR_061871
    Natural varianti202 – 2021T → A.2 Publications
    VAR_015546
    Natural varianti212 – 2121M → L.2 Publications
    VAR_015547
    Natural varianti231 – 2311A → T.1 Publication
    VAR_058586
    Natural varianti277 – 2771C → Y in allele UGT1A8*3; dramatic reduction in catalytic activity. 2 Publications
    Corresponds to variant rs17863762 [ dbSNP | Ensembl ].
    VAR_015549

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei432 – 53099SYKEN…KSKTH → RKKQQSGRQM in isoform 2. CuratedVSP_053964Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF030310 mRNA. Translation: AAB84259.1.
    AF297093 Genomic DNA. Translation: AAG30416.1.
    AF462267 mRNA. Translation: AAL75963.1.
    AF462268 mRNA. Translation: AAL75964.1.
    AC006985 Genomic DNA. No translation available.
    AC019072 Genomic DNA. No translation available.
    AK313488 mRNA. Translation: BAG36270.1.
    AF465198 Genomic DNA. Translation: AAL73506.1.
    AF465199 Genomic DNA. Translation: AAL73507.1.
    AF465200 Genomic DNA. Translation: AAL73508.1.
    DQ364251 mRNA. Translation: ABC96775.1.
    CCDSiCCDS33402.1. [Q9HAW9-1]
    RefSeqiNP_061949.3. NM_019076.4. [Q9HAW9-1]
    UniGeneiHs.554822.

    Genome annotation databases

    GeneIDi54576.
    KEGGihsa:54576.
    UCSCiuc002vup.3. human. [Q9HAW9-1]

    Polymorphism databases

    DMDMi29839637.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF030310 mRNA. Translation: AAB84259.1 .
    AF297093 Genomic DNA. Translation: AAG30416.1 .
    AF462267 mRNA. Translation: AAL75963.1 .
    AF462268 mRNA. Translation: AAL75964.1 .
    AC006985 Genomic DNA. No translation available.
    AC019072 Genomic DNA. No translation available.
    AK313488 mRNA. Translation: BAG36270.1 .
    AF465198 Genomic DNA. Translation: AAL73506.1 .
    AF465199 Genomic DNA. Translation: AAL73507.1 .
    AF465200 Genomic DNA. Translation: AAL73508.1 .
    DQ364251 mRNA. Translation: ABC96775.1 .
    CCDSi CCDS33402.1. [Q9HAW9-1 ]
    RefSeqi NP_061949.3. NM_019076.4. [Q9HAW9-1 ]
    UniGenei Hs.554822.

    3D structure databases

    ProteinModelPortali Q9HAW9.
    SMRi Q9HAW9. Positions 280-441.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9HAW9. 7 interactions.
    STRINGi 9606.ENSP00000362549.

    Chemistry

    ChEMBLi CHEMBL1743318.

    Protein family/group databases

    CAZyi GT1. Glycosyltransferase Family 1.

    PTM databases

    PhosphoSitei Q9HAW9.

    Polymorphism databases

    DMDMi 29839637.

    Proteomic databases

    PRIDEi Q9HAW9.

    Protocols and materials databases

    DNASUi 54576.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 54576.
    KEGGi hsa:54576.
    UCSCi uc002vup.3. human. [Q9HAW9-1 ]

    Organism-specific databases

    CTDi 54576.
    GeneCardsi GC02P234526.
    HGNCi HGNC:12540. UGT1A8.
    MIMi 191740. gene.
    606433. gene.
    neXtProti NX_Q9HAW9.
    PharmGKBi PA37183.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000220832.
    HOVERGENi HBG004033.
    KOi K00699.
    OMAi FITEYEP.
    OrthoDBi EOG7GBFWS.
    PhylomeDBi Q9HAW9.
    TreeFami TF315472.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS10706-MONOMER.
    BRENDAi 2.4.1.17. 2681.
    Reactomei REACT_6784. Glucuronidation.
    SABIO-RK Q9HAW9.

    Miscellaneous databases

    GeneWikii UGT1A8.
    GenomeRNAii 54576.
    NextBioi 35481514.
    PROi Q9HAW9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9HAW9.
    Genevestigatori Q9HAW9.

    Family and domain databases

    InterProi IPR002213. UDP_glucos_trans.
    [Graphical view ]
    PANTHERi PTHR11926. PTHR11926. 1 hit.
    Pfami PF00201. UDPGT. 1 hit.
    [Graphical view ]
    PROSITEi PS00375. UDPGT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression of the UDP-glucuronosyltransferase 1A locus in human colon. Identification and characterization of the novel extrahepatic UGT1A8."
      Strassburg C.P., Manns M.P., Tukey R.H.
      J. Biol. Chem. 273:8719-8726(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS ARG-132; ALA-154; GLY-173; ALA-202 AND LEU-212.
    2. "Thirteen UDP-glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus."
      Gong Q.H., Cho J.W., Huang T., Potter C., Gholami N., Basu N.K., Kubota S., Carvalho S., Pennington M.W., Owens I.S., Popescu N.C.
      Pharmacogenetics 11:357-368(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Identification and functional characterization of UDP-glucuronosyltransferases UGT1A8*1, UGT1A8*2 and UGT1A8*3."
      Huang Y.-H., Galijatovic A., Nguyen N., Geske D., Beaton D., Green J., Green M., Peters W.H., Tukey R.H.
      Pharmacogenetics 12:287-297(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLY-173 AND TYR-277.
      Tissue: Colon.
    4. "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 1), VARIANT GLY-173.
      Tissue: Tongue.
    5. "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].
    6. "Identification of genetic polymorphisms within the human extrahepatic UGT1A8 gene."
      Strassburg C.P., Vogel A., Manns M.P.
      Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-285, VARIANTS ARG-132; ALA-154; GLY-173; ALA-202 AND LEU-212.
    7. Guillemette C., Levesque E., Girard H., Bernard O.
      Submitted (JAN-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-292 AND ASN-344.
      Tissue: Liver.
    9. "Genetic diversity at the UGT1 locus is amplified by a novel 3' alternative splicing mechanism leading to nine additional UGT1A proteins that act as regulators of glucuronidation activity."
      Girard H., Levesque E., Bellemare J., Journault K., Caillier B., Guillemette C.
      Pharmacogenet. Genomics 17:1077-1089(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION (ISOFORM 2), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    10. "Structure and concentration changes affect characterization of UGT isoform-specific metabolism of isoflavones."
      Tang L., Singh R., Liu Z., Hu M.
      Mol. Pharm. 6:1466-1482(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    11. "Alternatively spliced products of the UGT1A gene interact with the enzymatically active proteins to inhibit glucuronosyltransferase activity in vitro."
      Bellemare J., Rouleau M., Girard H., Harvey M., Guillemette C.
      Drug Metab. Dispos. 38:1785-1789(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: CATALYTIC ACTIVITY, FUNCTION (ISOFORM 2), SUBUNIT.
    12. "Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population."
      Menard V., Girard H., Harvey M., Perusse L., Guillemette C.
      Hum. Mutat. 30:677-687(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VAL-144; GLY-173; THR-231 AND TYR-277.

    Entry informationi

    Entry nameiUD18_HUMAN
    AccessioniPrimary (citable) accession number: Q9HAW9
    Secondary accession number(s): B2R8S3
    , B8K290, O14928, Q8TEX4, Q8WTQ9, Q8WX85
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 11, 2003
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 118 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

    Miscellaneous

    The gene is part of the UGT1A complex locus which displays alternative use of promoters, first exons and terminal exons. The locus is defined by 13 first exons, which are alternatively spliced to 3 other common exons and 2 alternative terminal exons 5. From the 27 possible mRNA isoforms, 9 produce functionally active polypeptides (UGT1A1, 1A3, 1A4, 1A5, 1A6, 1A7, 1A8, 1A9 and 1A10) called isoforms 1 (i1). Use of an alternative exon 5 (5b) as terminal exon is leading to 9 additional alternatively spliced products termed isoforms i2 and which lack transferase activity.

    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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3