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Aliases for UGT1A1 Gene

Aliases for UGT1A1 Gene

  • UDP Glucuronosyltransferase Family 1 Member A1 2 3 5
  • 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 61
  • UDPGT 1-1 3 4
  • HUG-BR1 3 4
  • UGT1-01 3 4
  • UGT-1A 3 4
  • UGT1*1 3 4
  • UGT1.1 3 4
  • UGT1A 3 4
  • UGT1 3 4
  • GNT1 3 4
  • UDP Glucuronosyltransferase 1 Family, Polypeptide A1 3
  • Bilirubin UDP-Glucuronosyltransferase Isozyme 1 3
  • Bilirubin UDP-Glucuronosyltransferase 1-1 3
  • Bilirubin UDP-Glucuronosyltranserase 3
  • UDP-Glucuronosyltransferase 1-1 3
  • BILIQTL1 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
  • GC02P233619

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]

CIViC summary for UGT1A1 Gene

GeneCards Summary for UGT1A1 Gene

UGT1A1 (UDP Glucuronosyltransferase Family 1 Member 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 Estrogen metabolism and Etoposide Pathway, Pharmacokinetics/Pharmacodynamics. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is UGT1A3.

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

Enhancers for UGT1A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G233759 1.1 FANTOM5 ENCODE 0.7 +0.7 655 2.5 CTCF TAF1 MAX RAD21 YY1 ZNF316 NCOR1 HNF4G FOS MAFK UGT1A6 MROH2A UGT1A1
GH02G233763 1 FANTOM5 ENCODE 0.7 +4.2 4198 1.6 NFIB TAF1 MAX HBP1 RAD21 YY1 ZFHX2 HNF4G MAFK EGR2 UGT1A4 UGT1A6 LOC100286922 DNAJB3 UGT1A1 MROH2A
GH02G233756 1 ENCODE 0.7 -3.3 -3319 0.2 HNRNPUL1 FOXA2 ATF1 MLX ARNT ARID4B DMAP1 ZNF48 YY1 TCF12 PIR60361 UGT1A1
GH02G233757 0.5 ENCODE 0.7 -1.8 -1766 1.8 NFYC PPARG MAFK MIXL1 UGT1A6 LOC100286922 USP40 DNAJB3 UGT1A1 PIR60361
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UGT1A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UGT1A1 Gene

Chromosome:
2
Start:
233,760,248 bp from pter
End:
233,773,299 bp from pter
Size:
13,052 bases
Orientation:
Plus strand

Genomic View for UGT1A1 Gene

Genes around UGT1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for UGT1A1 Gene

P22309:
  • NTILVKWLPQNDL
  • PQNDLLGHP
  • AAHDLTW
  • PLFGDQMDNAKR
  • NALKAVIN
  • GAGVTLNVLEMT
  • DVIGFLL
  • DYPRPIMPNMVF
  • GKKGRVKKAHKSK
  • EPLDLAVFWVE
  • IADALGKIPQTVLWRYTG
  • FWVEFVM
  • GSHWLSM
  • VVFSLGSMV
  • VMRHKGA
  • KSYKENIMRLSSLHKDRP
  • QYHSLDV
  • CNGVPMV
  • HPMTRAF

Post-translational modifications for UGT1A1 Gene

  • Glycosylation at Asn102, Asn295, and posLast=347347
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT1A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Domains & Families for UGT1A1 Gene

Gene Families for UGT1A1 Gene

Protein Domains for UGT1A1 Gene

Graphical View of Domain Structure for InterPro Entry

P22309

UniProtKB/Swiss-Prot:

UD11_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
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:0015020 glucuronosyltransferase activity TAS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with UGT1A1: view
genes like me logo Genes that share phenotypes with UGT1A1: view

Human Phenotype Ontology for UGT1A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Animal Models , miRNA , Transcription Factor Targets 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: Microsome. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UGT1A1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
peroxisome 2
nucleus 2
cytosol 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 IDA,IEA 17179145
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UGT1A1: view

Pathways & Interactions for UGT1A1 Gene

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

Gene Ontology (GO) - Biological Process for UGT1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006789 bilirubin conjugation TAS --
GO:0006953 acute-phase response IEA --
GO:0007584 response to nutrient IEA --
GO:0007586 digestion NAS 1898728
genes like me logo Genes that share ontologies with UGT1A1: view

No data available for SIGNOR curated interactions for UGT1A1 Gene

Drugs & Compounds for UGT1A1 Gene

(180) Drugs for UGT1A1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Irinotecan Approved, Investigational Pharma Enzyme, substrate Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1123
Dolutegravir Approved Pharma Enzyme, substrate 150
Indacaterol Approved Pharma Enzyme, substrate β2-agonist 0
Nilotinib Approved, Investigational Pharma Transporter, inhibitor Kinase Inhibitors 0
Estradiol Approved, Investigational, Vet_approved Pharma Enzyme, substrate Sex hormone 1318

(169) Additional Compounds for UGT1A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Morphine-3-glucuronide
20290-09-9
SN38 glucuronide
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)
  • (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronoside)
  • (23S)-23,25-dihydroxy-24-oxocholecalciferol 23-(beta-glucuronide)
  • (23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide)
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-D-glucuronide
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-delta-glucuronide
(3a,5b)-24-oxo-24-[(2-sulfoethyl)amino]cholan-3-yl-b-D-Glucopyranosiduronic acid
  • (3a,5b)-24-oxo-24-[(2-sulfoethyl)amino]cholan-3-yl-b-D-Glucopyranosiduronate
  • (3a,5b)-24-oxo-24-[(2-sulfoethyl)amino]cholan-3-yl-beta-delta-Glucopyranosiduronate
  • Taurolithocholic acid 3-glucuronide
99794-82-8
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • Chenodeoxycholic acid 3-glucuronide
  • Chenodeoxycholic acid-3-b-D-glucuronide
  • Chenodeoxycholic acid-3-beta-delta-glucuronide
58814-71-4
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

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x22.9), Bladder (x17.0), and Small Intestine - Terminal Ileum (x5.8).

Protein differential expression in normal tissues from HIPED for UGT1A1 Gene

This gene is overexpressed in Liver (43.0) and Gallbladder (26.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UGT1A1 Gene



Protein tissue co-expression partners for UGT1A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UGT1A1 Gene:

UGT1A1

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.

Evidence on tissue expression from TISSUES for UGT1A1 Gene

  • Liver(4.6)
  • Blood(4.4)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT1A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
Abdomen:
  • liver
General:
  • skin
genes like me logo Genes that share expression patterns with UGT1A1: view

Primer 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
cow
(Bos Taurus)
Mammalia UGT1A1 34
  • 83.49 (n)
-- 35
  • 70 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ugt1a1 34
  • 82.68 (n)
mouse
(Mus musculus)
Mammalia Ugt1a1 34 16
  • 81.64 (n)
Ugt1a2 35
  • 76 (a)
ManyToMany
Ugt1a5 35
  • 76 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia -- 35
  • 32 (a)
ManyToMany
chicken
(Gallus gallus)
Aves UGT1A1 34
  • 66.27 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 60 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ugt1a1 34
  • 58.3 (n)
ugt1a7 35
  • 51 (a)
ManyToMany
ugt1b1 35
  • 48 (a)
ManyToMany
ugt1b2 35
  • 46 (a)
ManyToMany
ugt1b3 35
  • 46 (a)
ManyToMany
ugt1b4 35
  • 46 (a)
ManyToMany
ugt1b5 35
  • 46 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10178 36 34
  • 47.54 (n)
Ugt36Bb 36
  • 39 (a)
CG11289 36
  • 34 (a)
Ugt37c1 36
  • 30 (a)
Ugt86Dj 36
  • 29 (a)
BEST:GH06505 36
  • 28 (a)
Ugt36Ba 36
  • 27 (a)
Ugt86Dh 36
  • 27 (a)
Dot 36
  • 25 (a)
Ugt37b1 36
  • 25 (a)
CG3797 36
  • 24 (a)
CG5724 36
  • 24 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008401 34
  • 47.33 (n)
worm
(Caenorhabditis elegans)
Secernentea C08F11.8 36
  • 28 (a)
C10H11.5 36
  • 28 (a)
C17G1.3 36
  • 28 (a)
ZC443.5 36
  • 27 (a)
C10H11.6 36
  • 26 (a)
F09G2.6 36
  • 26 (a)
AC3.2 36
  • 25 (a)
C03A7.11 36
  • 25 (a)
R04B5.9 36
  • 25 (a)
R11A8.3 36
  • 25 (a)
K08B4.4 36
  • 24 (a)
T01G5.2 36
  • 24 (a)
C10H11.4 36
  • 23 (a)
ZC455.3 36
  • 23 (a)
AC3.8 36
  • 22 (a)
F01D4.1 36
  • 22 (a)
F01D4.2 36
  • 21 (a)
Species where no ortholog for UGT1A1 was found in the sources mined by GeneCards:
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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

Variants for UGT1A1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for UGT1A1 Gene

UD11_HUMAN-P22309
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
rs111033541 Pathogenic, Crigler-Najjar syndrome 2 (CN2) [MIM:606785] 233,760,331(+) GGGCC(G/T)GCTGC intron-variant, reference, missense
rs139607673 Crigler-Najjar syndrome 2 (CN2) [MIM:606785] 233,767,858(+) TGTGG(C/T)GGTAC reference, missense
rs28934877 Pathogenic, Crigler-Najjar syndrome 2 (CN2) [MIM:606785] 233,768,333(+) TGGAC(A/C/G)ATGCA reference, missense
rs34993780 Pathogenic, Crigler-Najjar syndrome 2 (CN2) [MIM:606785], Gilbert syndrome (GILBS) [MIM:143500], Transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900] 233,772,413(+) ACCAG(A/C/G/T)ACCAT upstream-variant-2KB, reference, missense
rs35003977 Likely pathogenic, Crigler-Najjar syndrome 2 (CN2) [MIM:606785] 233,760,961(+) CGACG(G/T)GGTTT intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1013712 CNV loss 25217958
nsv3215 CNV deletion 18451855

Variation tolerance for UGT1A1 Gene

Residual Variation Intolerance Score: 24.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.96; 49.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UGT1A1 Gene

Human Gene Mutation Database (HGMD)
UGT1A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT1A1

Disorders for UGT1A1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for UGT1A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
crigler-najjar syndrome, type i
  • crigler-najjar syndrome
crigler-najjar syndrome, type ii
  • crigler najjar syndrome, type 2
hyperbilirubinemia, familial transient neonatal
  • hyperbilirubinemia, transient familial neonatal
gilbert syndrome
  • constitutional hyperbilirubinemia
ugt1a1-related altered drug metabolism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

UD11_HUMAN
  • 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:14550264, ECO:0000269 PubMed:15712364, ECO:0000269 PubMed:17229650, ECO:0000269 PubMed:18004206, 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.
  • 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.

Relevant External Links for UGT1A1

Genetic Association Database (GAD)
UGT1A1
Human Genome Epidemiology (HuGE) Navigator
UGT1A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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No data available for Genatlas for UGT1A1 Gene

Publications for UGT1A1 Gene

  1. Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. (PMID: 19830808) Sneitz N. … Bosma P.J. (Hum. Mutat. 2010) 3 4 22 64
  2. A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns. (PMID: 20402064) Ergin H. … Atalay O.E. (Turk. J. Pediatr. 2010) 3 22 46 64
  3. Genetic polymorphisms in the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and prostate cancer risk in Caucasian men. (PMID: 20308029) Karatzas A. … Tsezou A. (Cancer Epidemiol 2010) 3 22 46 64
  4. Clinical significance of UDP-glucuronosyltransferase 1A1*6 for toxicities of combination chemotherapy with irinotecan and cisplatin in gynecologic cancers: a prospective multi-institutional study. (PMID: 19299905) Takano M. … Kita T. (Oncology 2009) 3 22 46 64
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 22 46 64

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