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P22310

- UD14_HUMAN

UniProt

P22310 - UD14_HUMAN

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Protein

UDP-glucuronosyltransferase 1-4

Gene

UGT1A4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
ExpressionAtlasiP22310. baseline.
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.
GeneTreeiENSGT00760000118949.
HOGENOMiHOG000220832.
HOVERGENiHBG004033.
InParanoidiP22310.
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

        10         20         30         40         50
MARGLQVPLP RLATGLLLLL SVQPWAESGK VLVVPTDGSP WLSMREALRE
60 70 80 90 100
LHARGHQAVV LTPEVNMHIK EEKFFTLTAY AVPWTQKEFD RVTLGYTQGF
110 120 130 140 150
FETEHLLKRY SRSMAIMNNV SLALHRCCVE LLHNEALIRH LNATSFDVVL
160 170 180 190 200
TDPVNLCGAV LAKYLSIPAV FFWRYIPCDL DFKGTQCPNP SSYIPKLLTT
210 220 230 240 250
NSDHMTFLQR VKNMLYPLAL SYICHTFSAP YASLASELFQ REVSVVDLVS
260 270 280 290 300
YASVWLFRGD FVMDYPRPIM PNMVFIGGIN CANGKPLSQE FEAYINASGE
310 320 330 340 350
HGIVVFSLGS MVSEIPEKKA MAIADALGKI PQTVLWRYTG TRPSNLANNT
360 370 380 390 400
ILVKWLPQND LLGHPMTRAF ITHAGSHGVY ESICNGVPMV MMPLFGDQMD
410 420 430 440 450
NAKRMETKGA GVTLNVLEMT SEDLENALKA VINDKSYKEN IMRLSSLHKD
460 470 480 490 500
RPVEPLDLAV FWVEFVMRHK GAPHLRPAAH DLTWYQYHSL DVIGFLLAVV
510 520 530
LTVAFITFKC CAYGYRKCLG KKGRVKKAHK SKTH
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 DB06216. Asenapine.
DB00363. Clozapine.
DB04953. Ezogabine.
DB00555. Lamotrigine.
DB00683. Midazolam.
DB00910. Paricalcitol.
DB00675. Tamoxifen.
DB00831. Trifluoperazine.
DB00313. Valproic Acid.

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.
GeneTreei ENSGT00760000118949.
HOGENOMi HOG000220832.
HOVERGENi HBG004033.
InParanoidi P22310.
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.
ExpressionAtlasi P22310. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 150 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

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