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P22310

- UD14_HUMAN

UniProt

P22310 - UD14_HUMAN

Protein

UDP-glucuronosyltransferase 1-4

Gene

UGT1A4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 149 (01 Oct 2014)
      Sequence version 1 (01 Aug 1991)
      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. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 By similarity.By similarity

    Catalytic activityi

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

    GO - Molecular functioni

    1. enzyme binding Source: BHF-UCL
    2. glucuronosyltransferase activity Source: UniProt
    3. protein heterodimerization activity Source: UniProt
    4. protein homodimerization activity Source: UniProt

    GO - Biological processi

    1. cellular glucuronidation Source: UniProt
    2. small molecule metabolic process Source: Reactome
    3. xenobiotic metabolic process Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    BioCyciMetaCyc:HS11970-MONOMER.
    BRENDAi2.4.1.17. 2681.
    ReactomeiREACT_6784. Glucuronidation.
    SABIO-RKP22310.

    Protein family/group databases

    CAZyiGT1. Glycosyltransferase Family 1.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UDP-glucuronosyltransferase 1-4 (EC:2.4.1.17)
    Short name:
    UDPGT 1-4
    Short name:
    UGT1*4
    Short name:
    UGT1-04
    Short name:
    UGT1.4
    Alternative name(s):
    Bilirubin-specific UDPGT isozyme 2
    Short name:
    hUG-BR2
    UDP-glucuronosyltransferase 1-D
    Short name:
    UGT-1D
    Short name:
    UGT1D
    UDP-glucuronosyltransferase 1A4
    Gene namesi
    Name:UGT1A4
    Synonyms:GNT1, UGT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:12536. UGT1A4.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProt
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Involvement in diseasei

    Gilbert syndrome (GILBS) [MIM:143500]: Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Crigler-Najjar syndrome 1 (CN1) [MIM:218800]: Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti376 – 3761S → F in CN1. 1 Publication
    VAR_007711
    Crigler-Najjar syndrome 2 (CN2) [MIM:606785]: Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti132 – 1321L → P in CN2. 1 Publication
    VAR_009506
    Natural varianti332 – 3321Q → R in CN2. 1 Publication
    VAR_007710
    Natural varianti487 – 4871Y → D in CN2. 1 Publication
    VAR_009507

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi143500. phenotype.
    218800. phenotype.
    606785. phenotype.
    PharmGKBiPA37179.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2828Sequence AnalysisAdd
    BLAST
    Chaini29 – 534506UDP-glucuronosyltransferase 1-4PRO_0000036003Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi119 – 1191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi142 – 1421N-linked (GlcNAc...)1 Publication
    Glycosylationi296 – 2961N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi348 – 3481N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP22310.
    PRIDEiP22310.

    PTM databases

    PhosphoSiteiP22310.

    Expressioni

    Tissue specificityi

    Isoform 1 and isoform 2 are expressed in liver, kidney, colon and small intestine. Isoform 2 but not isoform 1 is expressed in esophagus. Not expressed in skin.2 Publications

    Inductioni

    By phenobarbital.

    Gene expression databases

    BgeeiP22310.
    GenevestigatoriP22310.

    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, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10.1 Publication

    Protein-protein interaction databases

    BioGridi120086. 1 interaction.
    IntActiP22310. 9 interactions.
    STRINGi9606.ENSP00000362508.

    Structurei

    3D structure databases

    ProteinModelPortaliP22310.
    SMRiP22310. Positions 284-445.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei492 – 50817HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the UDP-glycosyltransferase family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1819.
    HOGENOMiHOG000220832.
    HOVERGENiHBG004033.
    KOiK00699.
    OMAiLYICHAS.
    OrthoDBiEOG78H3T2.
    PhylomeDBiP22310.
    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: P22310-1) [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

    MARGLQVPLP RLATGLLLLL SVQPWAESGK VLVVPTDGSP WLSMREALRE    50
    LHARGHQAVV LTPEVNMHIK EEKFFTLTAY AVPWTQKEFD RVTLGYTQGF 100
    FETEHLLKRY SRSMAIMNNV SLALHRCCVE LLHNEALIRH LNATSFDVVL 150
    TDPVNLCGAV LAKYLSIPAV FFWRYIPCDL DFKGTQCPNP SSYIPKLLTT 200
    NSDHMTFLQR VKNMLYPLAL SYICHTFSAP YASLASELFQ REVSVVDLVS 250
    YASVWLFRGD FVMDYPRPIM PNMVFIGGIN CANGKPLSQE FEAYINASGE 300
    HGIVVFSLGS MVSEIPEKKA MAIADALGKI PQTVLWRYTG TRPSNLANNT 350
    ILVKWLPQND LLGHPMTRAF ITHAGSHGVY ESICNGVPMV MMPLFGDQMD 400
    NAKRMETKGA GVTLNVLEMT SEDLENALKA VINDKSYKEN IMRLSSLHKD 450
    RPVEPLDLAV FWVEFVMRHK GAPHLRPAAH DLTWYQYHSL DVIGFLLAVV 500
    LTVAFITFKC CAYGYRKCLG KKGRVKKAHK SKTH 534
    Length:534
    Mass (Da):60,025
    Last modified:August 1, 1991 - v1
    Checksum:iAB745D46F57538BE
    GO
    Isoform 2 (identifier: P22310-2) [UniParc]FASTAAdd to Basket

    Also known as: i2, UGT1A4s

    The sequence of this isoform differs from the canonical sequence as follows:
         436-534: SYKENIMRLS...VKKAHKSKTH → RKKQQSGRQM

    Show »
    Length:445
    Mass (Da):49,802
    Checksum:iBB72EF2CDE4C0482
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti11 – 111R → W.
    Corresponds to variant rs3892221 [ dbSNP | Ensembl ].
    VAR_059844
    Natural varianti24 – 241P → T.1 Publication
    Corresponds to variant rs6755571 [ dbSNP | Ensembl ].
    VAR_024684
    Natural varianti48 – 481L → V.2 Publications
    Corresponds to variant rs2011425 [ dbSNP | Ensembl ].
    VAR_058584
    Natural varianti68 – 681H → Y.
    Corresponds to variant rs45621441 [ dbSNP | Ensembl ].
    VAR_061870
    Natural varianti132 – 1321L → P in CN2. 1 Publication
    VAR_009506
    Natural varianti176 – 1761I → F.
    Corresponds to variant rs45540231 [ dbSNP | Ensembl ].
    VAR_052454
    Natural varianti332 – 3321Q → R in CN2. 1 Publication
    VAR_007710
    Natural varianti376 – 3761S → F in CN1. 1 Publication
    VAR_007711
    Natural varianti487 – 4871Y → D in CN2. 1 Publication
    VAR_009507

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei436 – 53499SYKEN…KSKTH → RKKQQSGRQM in isoform 2. 2 PublicationsVSP_053960Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M84128 Genomic DNA. Translation: AAA61249.1.
    M84124, M84122, M84123 Genomic DNA. Translation: AAA61247.1. Sequence problems.
    M57951 mRNA. Translation: AAA63196.1.
    AF297093 Genomic DNA. Translation: AAG30422.1.
    AY435139 mRNA. Translation: AAR95640.1.
    AK313623 mRNA. Translation: BAG36384.1.
    DQ364249 mRNA. Translation: ABC96773.1.
    AC006985 Genomic DNA. No translation available.
    AC114812 Genomic DNA. No translation available.
    CH471063 Genomic DNA. Translation: EAW71061.1.
    BC139784 mRNA. Translation: AAI39785.1.
    CCDSiCCDS33405.1. [P22310-1]
    RefSeqiNP_009051.1. NM_007120.2. [P22310-1]
    UniGeneiHs.554822.

    Genome annotation databases

    EnsembliENST00000373409; ENSP00000362508; ENSG00000244474. [P22310-1]
    ENST00000450233; ENSP00000408608; ENSG00000244474. [P22310-2]
    GeneIDi54657.
    KEGGihsa:54657.
    UCSCiuc002vux.3. human. [P22310-1]

    Polymorphism databases

    DMDMi136731.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M84128 Genomic DNA. Translation: AAA61249.1 .
    M84124 , M84122 , M84123 Genomic DNA. Translation: AAA61247.1 . Sequence problems.
    M57951 mRNA. Translation: AAA63196.1 .
    AF297093 Genomic DNA. Translation: AAG30422.1 .
    AY435139 mRNA. Translation: AAR95640.1 .
    AK313623 mRNA. Translation: BAG36384.1 .
    DQ364249 mRNA. Translation: ABC96773.1 .
    AC006985 Genomic DNA. No translation available.
    AC114812 Genomic DNA. No translation available.
    CH471063 Genomic DNA. Translation: EAW71061.1 .
    BC139784 mRNA. Translation: AAI39785.1 .
    CCDSi CCDS33405.1. [P22310-1 ]
    RefSeqi NP_009051.1. NM_007120.2. [P22310-1 ]
    UniGenei Hs.554822.

    3D structure databases

    ProteinModelPortali P22310.
    SMRi P22310. Positions 284-445.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120086. 1 interaction.
    IntActi P22310. 9 interactions.
    STRINGi 9606.ENSP00000362508.

    Chemistry

    ChEMBLi CHEMBL3619.
    DrugBanki DB00458. Imipramine.
    DB00555. Lamotrigine.
    DB00910. Paricalcitol.
    DB00831. Trifluoperazine.

    Protein family/group databases

    CAZyi GT1. Glycosyltransferase Family 1.

    PTM databases

    PhosphoSitei P22310.

    Polymorphism databases

    DMDMi 136731.

    Proteomic databases

    PaxDbi P22310.
    PRIDEi P22310.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373409 ; ENSP00000362508 ; ENSG00000244474 . [P22310-1 ]
    ENST00000450233 ; ENSP00000408608 ; ENSG00000244474 . [P22310-2 ]
    GeneIDi 54657.
    KEGGi hsa:54657.
    UCSCi uc002vux.3. human. [P22310-1 ]

    Organism-specific databases

    CTDi 54657.
    GeneCardsi GC02P234627.
    HGNCi HGNC:12536. UGT1A4.
    MIMi 143500. phenotype.
    191740. gene.
    218800. phenotype.
    606429. gene.
    606785. phenotype.
    neXtProti NX_P22310.
    PharmGKBi PA37179.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1819.
    HOGENOMi HOG000220832.
    HOVERGENi HBG004033.
    KOi K00699.
    OMAi LYICHAS.
    OrthoDBi EOG78H3T2.
    PhylomeDBi P22310.
    TreeFami TF315472.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS11970-MONOMER.
    BRENDAi 2.4.1.17. 2681.
    Reactomei REACT_6784. Glucuronidation.
    SABIO-RK P22310.

    Miscellaneous databases

    GeneWikii UGT1A4.
    GenomeRNAii 54657.
    NextBioi 35481512.
    PROi P22310.
    SOURCEi Search...

    Gene expression databases

    Bgeei P22310.
    Genevestigatori P22310.

    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. "Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells."
      Ritter J.K., Crawford J.M., Owens I.S.
      J. Biol. Chem. 266:1043-1047(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Liver.
    2. "A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini."
      Ritter J.K., Chen F., Sheen Y.Y., Tran H.M., Kimura S., Yeatman M.T., Owens I.S.
      J. Biol. Chem. 267:3257-3261(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
    3. "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].
    4. "Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation."
      Zhang T., Haws P., Wu Q.
      Genome Res. 14:79-89(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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 1), VARIANT VAL-48.
      Tissue: Liver.
    6. Guillemette C., Levesque E., Girard H., Bernard O.
      Submitted (JAN-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    7. "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].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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).
    10. "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: ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    11. "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-142 AND ASN-348.
      Tissue: Liver.
    12. "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: SUBUNIT.
    13. "Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I."
      Bosma P.J., Chowdhury J.R., Huang T.-J., Lahiri P., Elferink R.P.J.O., van Es H.H.G., Lederstein M., Whitington P.F., Jansen P.L.M., Chowdhury N.R.
      FASEB J. 6:2859-2863(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CN1 PHE-376.
    14. "Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II."
      Aono S., Yamada Y., Keino H., Hanada N., Nakagawa T., Sasaoka Y., Yazawa T., Sato H., Koiwai O.
      Biochem. Biophys. Res. Commun. 197:1239-1244(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CN2 PRO-132 AND ASP-487.
    15. "Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2."
      Moghrabi N., Clarke D.J., Boxer M., Burchell B.
      Genomics 18:171-173(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CN2 ARG-332.
    16. "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 THR-24 AND VAL-48.

    Entry informationi

    Entry nameiUD14_HUMAN
    AccessioniPrimary (citable) accession number: P22310
    Secondary accession number(s): B2R937, B8K288, Q5DT00
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1991
    Last sequence update: August 1, 1991
    Last modified: October 1, 2014
    This is version 149 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