Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UGT1A1 Gene

Aliases for UGT1A1 Gene

  • UDP Glucuronosyltransferase 1 Family, Polypeptide A1 2 3
  • UGT1 3 4 6
  • GNT1 3 4 6
  • UDP Glycosyltransferase 1 Family, Polypeptide A1 2 3
  • Bilirubin-Specific UDPGT Isozyme 1 3 4
  • UDP-Glucuronosyltransferase 1-A 3 4
  • UDP-Glucuronosyltransferase 1A1 3 4
  • EC 2.4.1.17 4 63
  • UDPGT 1-1 3 4
  • BILIQTL1 3 6
  • HUG-BR1 3 4
  • UGT1-01 3 4
  • UGT-1A 3 4
  • UGT1*1 3 4
  • UGT1.1 3 4
  • UGT1A 3 4
  • Bilirubin UDP-Glucuronosyltransferase Isozyme 1 3
  • Bilirubin UDP-Glucuronosyltransferase 1-1 3
  • UDP-Glucuronosyltransferase 1-1 3
  • UDPGT 3

External Ids for UGT1A1 Gene

Previous HGNC Symbols for UGT1A1 Gene

  • UGT1
  • GNT1

Previous GeneCards Identifiers for UGT1A1 Gene

  • GC02U990253
  • GC02P234815
  • GC02P234878
  • GC02P234363
  • GC02P234450
  • GC02P234193
  • GC02P234203
  • GC02P234212
  • GC02P234223
  • GC02P234333
  • GC02P234668
  • GC02P226469

Summaries for UGT1A1 Gene

Entrez Gene Summary for UGT1A1 Gene

  • This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for UGT1A1 Gene

UGT1A1 (UDP Glucuronosyltransferase 1 Family, Polypeptide A1) is a Protein Coding gene. Diseases associated with UGT1A1 include crigler-najjar syndrome, type i and crigler-najjar syndrome, type ii. Among its related pathways are AhR pathway (WikiPathways) and Metabolism. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is UGT2B15.

UniProtKB/Swiss-Prot for UGT1A1 Gene

  • 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. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.

Gene Wiki entry for UGT1A1 Gene

PharmGKB "VIP" Summary for UGT1A1 Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for UGT1A1 Gene

Genomics for UGT1A1 Gene

Regulatory Elements for UGT1A1 Gene

Genomic Location for UGT1A1 Gene

Start:
233,617,645 bp from pter
End:
233,773,310 bp from pter
Size:
155,666 bases
Orientation:
Plus strand

Genomic View for UGT1A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UGT1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT1A1 Gene

Proteins for UGT1A1 Gene

  • Protein details for UGT1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22309-UD11_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 1-1
    Protein Accession:
    P22309
    Secondary Accessions:
    • A6NJC3
    • B8K286

    Protein attributes for UGT1A1 Gene

    Size:
    533 amino acids
    Molecular mass:
    59591 Da
    Quaternary structure:
    • 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 UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10. Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX.
    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
    SequenceCaution:
    • Sequence=AAA61247.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAF03522.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for UGT1A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGT1A1 Gene

Proteomics data for UGT1A1 Gene at MOPED

Post-translational modifications for UGT1A1 Gene

  • Glycosylation at Asn102, Asn295, and Asn347
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT1A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for UGT1A1 (Glucuronosyltransferase 1A1/UGT1A1)
  • Cell Signaling Technology (CST) Antibodies for UGT1A1 (UGT1A1)

Domains for UGT1A1 Gene

Gene Families for UGT1A1 Gene

HGNC:
  • UGT :UDP glucuronosyltransferases

Protein Domains for UGT1A1 Gene

Graphical View of Domain Structure for InterPro Entry

P22309

UniProtKB/Swiss-Prot:

UD11_HUMAN :
  • P22309
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT1A1: view

Function for UGT1A1 Gene

Molecular function for UGT1A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=0.26 uM for bilirubin {ECO:0000269 PubMed:18004206}; Vmax=1080 pmol/min/mg enzyme with bilirubin as substrate {ECO:0000269 PubMed:18004206};
UniProtKB/Swiss-Prot CatalyticActivity: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.
UniProtKB/Swiss-Prot Function: 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. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.

Enzyme Numbers (IUBMB) for UGT1A1 Gene

Gene Ontology (GO) - Molecular Function for UGT1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 retinoic acid binding IDA 20308471
GO:0004857 enzyme inhibitor activity IDA 19996319
GO:0005496 steroid binding IDA 19996319
GO:0005504 fatty acid binding --
GO:0008144 drug binding --
genes like me logo Genes that share ontologies with UGT1A1: view

Phenotypes for UGT1A1 Gene

GenomeRNAi human phenotypes for UGT1A1:
genes like me logo Genes that share phenotypes with UGT1A1: view

Animal Model Products

CRISPR Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for UGT1A1 Gene

Localization for UGT1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT1A1 Gene

Isoform 1: Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein.
Isoform 2: Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UGT1A1 Gene COMPARTMENTS Subcellular localization image for UGT1A1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
golgi apparatus 2
nucleus 2
peroxisome 2
plasma membrane 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for UGT1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum NAS 20610558
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016021 integral component of membrane --
GO:0043231 intracellular membrane-bounded organelle --
genes like me logo Genes that share ontologies with UGT1A1: view

Pathways for UGT1A1 Gene

genes like me logo Genes that share pathways with UGT1A1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for UGT1A1 Gene

Gene Ontology (GO) - Biological Process for UGT1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0005975 carbohydrate metabolic process --
GO:0006631 fatty acid metabolic process --
GO:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006789 bilirubin conjugation TAS 1339448
genes like me logo Genes that share ontologies with UGT1A1: view

Compounds for UGT1A1 Gene

(85) HMDB Compounds for UGT1A1 Gene

Compound Synonyms Cas Number PubMed IDs
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)
  • (23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide)
Not Available
1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid
  • Ibuprofen acyl glucuronide
115075-59-7
11-beta-hydroxyandrosterone-3-glucuronide
  • 11-beta-hydroxyetiocholanolone-3-glucuronide
Not Available
11-Hydroxyprogesterone 11-glucuronide
  • 11-hydroxyprogesterone 11-glucuronoside
77710-64-6
11-Oxo-androsterone glucuronide
  • 11-oxo-etiocholanolone glucuronide
Not Available

(36) Drugbank Compounds for UGT1A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Abacavir
136470-78-5 enzyme
Acetaminophen
  • Acetaminofen
103-90-2 enzyme substrate
Adenine
  • 1H-Purin-6-amine
73-24-5 enzyme inhibitor
Atorvastatin
134523-00-5 enzyme substrate
Axitinib
319460-85-0 enzyme substrate

(100) Novoseek inferred chemical compound relationships for UGT1A1 Gene

Compound -log(P) Hits PubMed IDs
uridine diphosphate 92.6 32
irinotecan 90.8 162
sn38 glucuronide 89.7 8
sn 38 85.8 13
udp glucuronic acid 82.3 1

(14) PharmGKB related drug/compound annotations for UGT1A1 Gene

genes like me logo Genes that share compounds with UGT1A1: view

Transcripts for UGT1A1 Gene

mRNA/cDNA for UGT1A1 Gene

Unigene Clusters for UGT1A1 Gene

UDP glucuronosyltransferase 1 family, polypeptide A1:
Representative Sequences:

CRISPR Products

miRNA Products

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for UGT1A1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UGT1A1 Gene

No ASD Table

Relevant External Links for UGT1A1 Gene

GeneLoc Exon Structure for
UGT1A1
ECgene alternative splicing isoforms for
UGT1A1

Expression for UGT1A1 Gene

mRNA expression in normal human tissues for UGT1A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UGT1A1 Gene

This gene is overexpressed in Colon - Transverse (22.9), Bladder (17.0), and Small Intestine - Terminal Ileum (5.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for UGT1A1 Gene

SOURCE GeneReport for Unigene cluster for UGT1A1 Gene Hs.554822

mRNA Expression by UniProt/SwissProt for UGT1A1 Gene

P22309-UD11_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed in liver, colon and small intestine. Isoform 2 but not isoform 1 is expressed in kidney. Isoform 1 and isoform 2 are not expressed in esophagus. Not expressed in skin.
genes like me logo Genes that share expressions with UGT1A1: view

In Situ Assay Products

Orthologs for UGT1A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT1A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UGT1A1 36
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UGT1A1 35
  • 83.49 (n)
  • 78.99 (a)
UGT1A6 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ugt1a1 35
  • 81.64 (n)
  • 79.69 (a)
Ugt1a1 16
Ugt1a1 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UGT1A1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ugt1a1 35
  • 82.68 (n)
  • 79.88 (a)
chicken
(Gallus gallus)
Aves UGT1A1 35
  • 66.27 (n)
  • 64.23 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 64 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ugt1a1 35
  • 58.3 (n)
  • 54.78 (a)
ugt1a7 36
  • 49 (a)
ManyToMany
ugt1b1 36
  • 48 (a)
ManyToMany
ugt1b2 36
  • 45 (a)
ManyToMany
ugt1b3 36
  • 46 (a)
ManyToMany
ugt1b4 36
  • 46 (a)
ManyToMany
ugt1b5 36
  • 46 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008401 35
  • 47.33 (n)
  • 33.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10178 35
  • 47.54 (n)
  • 34.8 (a)
CG10178 37
  • 32 (a)
Dot 37
  • 25 (a)
Ugt36Bb 37
  • 39 (a)
CG11289 37
  • 34 (a)
Ugt37c1 37
  • 30 (a)
CG3797 37
  • 24 (a)
Ugt86Dh 37
  • 27 (a)
Ugt36Ba 37
  • 27 (a)
Ugt37b1 37
  • 25 (a)
BEST:GH06505 37
  • 28 (a)
CG5724 37
  • 24 (a)
Ugt86Dj 37
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea C08F11.8 37
  • 28 (a)
C17G1.3 37
  • 28 (a)
ZC443.5 37
  • 27 (a)
C10H11.6 37
  • 26 (a)
F09G2.6 37
  • 26 (a)
K08B4.4 37
  • 24 (a)
F01D4.2 37
  • 21 (a)
R04B5.9 37
  • 25 (a)
AC3.2 37
  • 25 (a)
ZC455.3 37
  • 23 (a)
C03A7.11 37
  • 25 (a)
T01G5.2 37
  • 24 (a)
R11A8.3 37
  • 25 (a)
C10H11.4 37
  • 23 (a)
AC3.8 37
  • 22 (a)
C10H11.5 37
  • 28 (a)
F01D4.1 37
  • 22 (a)
Species with no ortholog for UGT1A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for UGT1A1 Gene

ENSEMBL:
Gene Tree for UGT1A1 (if available)
TreeFam:
Gene Tree for UGT1A1 (if available)

Paralogs for UGT1A1 Gene

genes like me logo Genes that share paralogs with UGT1A1: view

Variants for UGT1A1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for UGT1A1 Gene

P22309-UD11_HUMAN
Genetic variation in UGT1A1 defines the bilirubin serum levels quantitative trait locus 1 (BILIQTL1) [MIM:601816]. Variation in serum bilirubin is associated with altered cardiovascular disease risk and drug metabolism

Sequence variations from dbSNP and Humsavar for UGT1A1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
VAR_007697 Crigler-Najjar syndrome 1 (CN1)
VAR_007698 Crigler-Najjar syndrome 2 (CN2)
VAR_007699 Crigler-Najjar syndrome 1 (CN1)
VAR_007700 Crigler-Najjar syndrome 1 (CN1)
VAR_007701 Crigler-Najjar syndrome 1 (CN1)

Structural Variations from Database of Genomic Variants (DGV) for UGT1A1 Gene

Variant ID Type Subtype PubMed ID
nsv3215 CNV Loss 18451855

Relevant External Links for UGT1A1 Gene

HapMap Linkage Disequilibrium report
UGT1A1
Human Gene Mutation Database (HGMD)
UGT1A1

Disorders for UGT1A1 Gene

(5) OMIM Diseases for UGT1A1 Gene (191740)

UniProtKB/Swiss-Prot

UD11_HUMAN
  • 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. {ECO:0000269 PubMed:11013440, ECO:0000269 PubMed:12139570, ECO:0000269 PubMed:7715297, ECO:0000269 PubMed:9627603}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900]: A condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants. {ECO:0000269 PubMed:11061796}. Note=The disease may be caused by mutations affecting the gene represented in this entry. The defect has been ascribed to various breast milk substances, but the component or combination of components that is responsible remains unclear. Defects of UGT1A1 are an underlying cause of the prolonged unconjugated hyperbilirubinemia associated with breast milk. One or more components in the milk may trigger the jaundice in infants who have such mutations. Mutations are identical to those detected in patients with Gilbert syndrome, a risk factor of neonatal non-physiologic hyperbilirubinemia and a genetic factor in fasting hyperbilirubinemia.
  • 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. {ECO:0000269 PubMed:11013440, ECO:0000269 PubMed:15712364, ECO:0000269 PubMed:1634050, ECO:0000269 PubMed:17229650, ECO:0000269 PubMed:19830808, ECO:0000269 PubMed:23992562, ECO:0000269 PubMed:7906695, ECO:0000269 PubMed:7989045, ECO:0000269 PubMed:7989595, ECO:0000269 PubMed:8226884}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11013440, ECO:0000269 PubMed:11370628, ECO:0000269 PubMed:12402338, ECO:0000269 PubMed:15712364, ECO:0000269 PubMed:17229650, ECO:0000269 PubMed:19830808, ECO:0000269 PubMed:23099197, ECO:0000269 PubMed:23992562, ECO:0000269 PubMed:7989595, ECO:0000269 PubMed:8276413, ECO:0000269 PubMed:8280139, ECO:0000269 PubMed:8706880, ECO:0000269 PubMed:9621515, ECO:0000269 PubMed:9639672}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(42) Novoseek inferred disease relationships for UGT1A1 Gene

Disease -log(P) Hits PubMed IDs
gilberts syndrome 97.1 117
crigler-najjar syndrome 93.8 30
hyperbilirubinemia 92.4 103
crigler-najjar syndrome, type ii 91 9
jaundice neonatal 81.2 18

Relevant External Links for UGT1A1

Genetic Association Database (GAD)
UGT1A1
Human Genome Epidemiology (HuGE) Navigator
UGT1A1
genes like me logo Genes that share disorders with UGT1A1: view

Publications for UGT1A1 Gene

  1. A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP- glucuronosyltransferase. (PMID: 8226884) Ritter J.K. … Owens I.S. (J. Biol. Chem. 1993) 3 4 23
  2. Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II. (PMID: 8280139) Aono S. … Koiwai O. (Biochem. Biophys. Res. Commun. 1993) 3 4 23
  3. The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. (PMID: 9295054) Mackenzie P.I. … Nebert D.W. (Pharmacogenetics 1997) 2 3 23
  4. Expression of the UDP-glucuronosyltransferase 1A locus in human colon. Identification and characterization of the novel extrahepatic UGT1A8. (PMID: 9535849) Strassburg C.P. … Tukey R.H. (J. Biol. Chem. 1998) 2 3 23
  5. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. (PMID: 11013440) Kadakol A. … Chowdhury N.R. (Hum. Mutat. 2000) 3 4 23

Products for UGT1A1 Gene

Sources for UGT1A1 Gene

Back to Top

Content