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UGT1A3 Gene(Protein Coding)

UDP Glucuronosyltransferase Family 1 Member A3

GCID:
GC02P233729
GIFtS:
47
Genes Participants
UDN Logo

Aliases for UGT1A3 Gene

Aliases for UGT1A3 Gene

  • UDP Glucuronosyltransferase Family 1 Member A3 2 3 5
  • UDP Glycosyltransferase 1 Family, Polypeptide A3 2 3
  • UDP-Glucuronosyltransferase 1-C 3 4
  • UDP-Glucuronosyltransferase 1A3 3 4
  • EC 2.4.1.17 4 56
  • UDPGT 1-3 3 4
  • UGT1-03 3 4
  • UGT-1C 3 4
  • UGT1*3 3 4
  • UGT1.3 3 4
  • UGT1C 3 4
  • UDP Glucuronosyltransferase 1 Family, Polypeptide A3 3
  • UDP-Glucuronosyltransferase 1 Family Polypeptide A3s 3
  • UDP-Glucuronosyltransferase 1-3 3
  • UGT1A3S 3
  • UDPGT 3
  • UGT1 4
  • GNT1 4

External Ids for UGT1A3 Gene

Previous GeneCards Identifiers for UGT1A3 Gene

  • GC02U990254
  • GC02P234816
  • GC02P234879
  • GC02P234364
  • GC02P234419
  • GC02P234194
  • GC02P234204
  • GC02P234214
  • GC02P234224
  • GC02P234302
  • GC02P234637
  • GC02P226437

Summaries for UGT1A3 Gene

Entrez Gene Summary for UGT1A3 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. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008]

GeneCards Summary for UGT1A3 Gene

UGT1A3 (UDP Glucuronosyltransferase Family 1 Member A3) is a Protein Coding gene. Diseases associated with UGT1A3 include Gilbert Syndrome and Drug-Induced Hepatitis. Among its related pathways are Acetaminophen Pathway (therapeutic doses), Pharmacokinetics and Constitutive Androstane Receptor Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is UGT1A5.

UniProtKB/Swiss-Prot for UGT1A3 Gene

  • UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.

Gene Wiki entry for UGT1A3 Gene

Additional gene information for UGT1A3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UGT1A3 Gene

Genomics for UGT1A3 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for UGT1A3 Gene

Promoters and enhancers for UGT1A3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02I233729 Promoter 0.8 EPDnew 550.8 0.0 -43 0.1 JUND RXRA ATF3 MAX ZBTB33 HNF4A YY1 UGT1A3 LOC100286922 RPL17P11 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A9 UGT1A10 UGT1A8
GH02I233759 Promoter/Enhancer 1.4 EPDnew FANTOM5 ENCODE 0.3 +31.8 31794 2.5 FOXA2 TAF1 MAX RAD21 YY1 ZNF316 HNF4G MAFK RXRA USF2 UGT1A1 UGT1A6 MROH2A UGT1A3 UGT1A4 UGT1A5 UGT1A7 UGT1A9 UGT1A10 UGT1A8
GH02I233745 Enhancer 0.9 ENCODE 0.4 +16.5 16477 1 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 TCF12 ATF7 RXRA SP5 DNAJB3 LOC100286922 UGT1A2P UGT1A6 UGT1A3 UGT1A4 UGT1A5 UGT1A7 UGT1A9 UGT1A10
GH02I233756 Enhancer 1 ENCODE 0.3 +27.8 27822 0.2 FOXA2 ARNT MLX ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 PIR60361 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A9 UGT1A10 UGT1A8
GH02I233763 Enhancer 0.9 FANTOM5 ENCODE 0.3 +35.3 35338 1.6 FOXA2 TAF1 MAX RAD21 YY1 ZFHX2 HNF4G EGR2 RXRA REST UGT1A4 UGT1A6 LOC100286922 DNAJB3 UGT1A1 MROH2A UGT1A3 UGT1A5 UGT1A7 UGT1A9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UGT1A3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UGT1A3 gene promoter:

Genomic Locations for UGT1A3 Gene

Genomic Locations for UGT1A3 Gene
chr2:233,729,108-233,773,299
(GRCh38/hg38)
Size:
44,192 bases
Orientation:
Plus strand
chr2:234,637,754-234,681,945
(GRCh37/hg19)

Genomic View for UGT1A3 Gene

Genes around UGT1A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT1A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT1A3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for UGT1A3 Gene

Proteins for UGT1A3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for UGT1A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35503-UD13_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 1-3
    Protein Accession:
    P35503
    Secondary Accessions:
    • B8K287

    Protein attributes for UGT1A3 Gene

    Size:
    534 amino acids
    Molecular mass:
    60338 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 UGT1A1, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10.
    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.

    Alternative splice isoforms for UGT1A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGT1A3 Gene

Protein Expression for UGT1A3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for UGT1A3 Gene

P35503:
  • NTILVKWLPQNDL
  • PQNDLLGHP
  • AAHDLTW
  • MPNMVFIGGINC
  • PLFGDQMDNAKR
  • NALKAVIN
  • GAGVTLNVLEMT
  • DVIGFLL
  • DYPRPIMPNMVF
  • GKKGRVKKAHKSK
  • EPLDLAVFWVE
  • IADALGKIPQTVLWRYTG
  • FWVEFVM
  • GSHWLSM
  • VVFSLGSMV
  • VMRHKGA
  • KSYKENIMRLSSLHKDRP
  • QYHSLDV
  • CNGVPMV
  • HPMTRAF
  • PYASLASELFQREVS

Post-translational modifications for UGT1A3 Gene

No Post-translational modifications

Other Protein References for UGT1A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for UGT1A3 Gene

Gene Families for UGT1A3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted membrane proteins

Protein Domains for UGT1A3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for UGT1A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35503

UniProtKB/Swiss-Prot:

UD13_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT1A3: view

Function for UGT1A3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for UGT1A3 Gene

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. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.

Enzyme Numbers (IUBMB) for UGT1A3 Gene

Phenotypes From GWAS Catalog for UGT1A3 Gene

Gene Ontology (GO) - Molecular Function for UGT1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 retinoic acid binding IDA 20308471
GO:0015020 glucuronosyltransferase activity IDA 17179145
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
genes like me logo Genes that share ontologies with UGT1A3: view
genes like me logo Genes that share phenotypes with UGT1A3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UGT1A3 Gene

Localization for UGT1A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT1A3 Gene

Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein.

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 UGT1A3 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 1

Gene Ontology (GO) - Cellular Components for UGT1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 17179145
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with UGT1A3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UGT1A3 Gene

Pathways & Interactions for UGT1A3 Gene

genes like me logo Genes that share pathways with UGT1A3: view

Gene Ontology (GO) - Biological Process for UGT1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process TAS 9295054
GO:0042573 retinoic acid metabolic process IC 20308471
GO:0052695 cellular glucuronidation IDA 17179145
GO:0052696 flavonoid glucuronidation IDA 20056724
GO:0052697 xenobiotic glucuronidation IDA 20056724
genes like me logo Genes that share ontologies with UGT1A3: view

No data available for SIGNOR curated interactions for UGT1A3 Gene

Drugs & Compounds for UGT1A3 Gene

Products:

  1. Drug

(60) Drugs for UGT1A3 Gene - From: DrugBank, PharmGKB, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Morphine Approved, Investigational Pharma Full agonist, Agonist, Enzyme, substrate 1100
atorvastatin Approved Pharma Competitive, Inhibitor, Enzyme, substrate 0
Dolutegravir Approved Pharma Enzyme, substrate 163
Eltrombopag Approved Pharma Enzyme, substrate 0
Valproic Acid Approved, Investigational Pharma Enzyme, substrate HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333

(89) Additional Compounds for UGT1A3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(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
1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid
  • (2S,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[2-[4-(2-methylpropyl)phenyl]propanoyloxy]oxane-2-carboxylic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) b-D-Glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) b-delta-Glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) beta-D-Glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) beta-delta-Glucopyranuronic acid
 115075-59-7
11-beta-Hydroxyandrosterone-3-glucuronide
  • 11-beta-Hydroxyetiocholanolone-3-glucuronide
  • 11beta-hydroxyandrosterone 3-glucuronide
11-Hydroxyprogesterone 11-glucuronide
  • 11-Hpg
  • 11-Hydroxyprogesterone 11-glucuronoside
  • 11alpha-Glucuronylprogesterone
  • 11alpha-Hydroxyprogesterone 11-glucuronide
  • 11alpha-Hydroxyprogesterone 11-glucuronoside
 77710-64-6
11-Oxo-androsterone glucuronide
  • 11-Oxo-etiocholanolone glucuronide
  • 11-Oxoandrosterone glucuronide
  • 11-Oxoetiocholanolone glucuronide
genes like me logo Genes that share compounds with UGT1A3: view

Transcripts for UGT1A3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for UGT1A3 Gene

(1) REFSEQ mRNAs :
(271) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UGT1A3 Gene

No ASD Table

Relevant External Links for UGT1A3 Gene

GeneLoc Exon Structure for
UGT1A3
ECgene alternative splicing isoforms for
UGT1A3

Expression for UGT1A3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UGT1A3 Gene

mRNA expression in normal human tissues for UGT1A3 Gene
mRNA expression by BioGPS for UGT1A3 Gene

Protein differential expression in normal tissues from HIPED for UGT1A3 Gene

This gene is overexpressed in Liver (43.9) and Gallbladder (25.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UGT1A3 Gene



Protein tissue co-expression partners for UGT1A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of UGT1A3 Gene:

UGT1A3

mRNA Expression by UniProt/SwissProt for UGT1A3 Gene:

P35503-UD13_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed in liver, kidney, colon and small intestine. Isoform 1 but not isoform 2 is expressed in esophagus.

Evidence on tissue expression from TISSUES for UGT1A3 Gene

  • Liver(4.5)
genes like me logo Genes that share expression patterns with UGT1A3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT1A3 Gene

Orthologs for UGT1A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT1A3 Gene

Organism Taxonomy Gene Similarity Type Details
rat
(Rattus norvegicus)
 Mammalia Ugt1a2 33
  • 81.11 (n)
mouse
(Mus musculus)
 Mammalia Ugt1a2 33 16 34
  • 79.61 (n)
Ugt1a5 34
  • 76 (a)
 ManyToMany
cow
(Bos Taurus)
 Mammalia -- 34
  • 70 (a)
 ManyToMany
-- 34
  • 66 (a)
 ManyToMany
-- 34
  • 66 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 60 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii ugt1a7 34
  • 51 (a)
 ManyToMany
ugt1b1 34
  • 48 (a)
 ManyToMany
ugt1b2 34
  • 46 (a)
 ManyToMany
ugt1b3 34
  • 46 (a)
 ManyToMany
ugt1b4 34
  • 46 (a)
 ManyToMany
ugt1b5 34
  • 46 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta Ugt36Bb 33
  • 44.03 (n)
Ugt37c1 35
  • 30 (a)
CG17323 35
  • 29 (a)
CG5724 35
  • 29 (a)
Ugt36Ba 35
  • 29 (a)
Ugt37a1 35
  • 29 (a)
BEST:GH06505 35
  • 28 (a)
CG10178 35
  • 26 (a)
Dot 35
  • 26 (a)
Ugt37b1 35
  • 26 (a)
CG16732 35
  • 24 (a)
CG5999 35
  • 23 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011564 33
  • 43 (n)
worm
(Caenorhabditis elegans)
 Secernentea F39G3.1 35
  • 30 (a)
AC3.2 35
  • 28 (a)
F35H8.6 35
  • 28 (a)
C08F11.8 35
  • 27 (a)
F10D2.5 35
  • 27 (a)
C10H11.5 35
  • 26 (a)
T07C5.1a 35
  • 26 (a)
ZC443.5 35
  • 26 (a)
C17G1.3 35
  • 25 (a)
C33A12.6 35
  • 25 (a)
F09G2.6 35
  • 25 (a)
K08B4.4 35
  • 25 (a)
C03A7.11 35
  • 24 (a)
C08B6.1 35
  • 24 (a)
C10H11.6 35
  • 24 (a)
C44H9.1 35
  • 24 (a)
F01D4.1 35
  • 23 (a)
F01D4.2 35
  • 23 (a)
F47C10.6 35
  • 23 (a)
R04B5.9 35
  • 23 (a)
T01G5.2 35
  • 23 (a)
Species where no ortholog for UGT1A3 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • 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 UGT1A3 Gene

ENSEMBL:
Gene Tree for UGT1A3 (if available)
TreeFam:
Gene Tree for UGT1A3 (if available)

Paralogs for UGT1A3 Gene

Paralogs for UGT1A3 Gene

(31) SIMAP similar genes for UGT1A3 Gene using alignment to 18 proteins:

Pseudogenes.org Pseudogenes for UGT1A3 Gene

genes like me logo Genes that share paralogs with UGT1A3: view

Variants for UGT1A3 Gene

Sequence variations from dbSNP and Humsavar for UGT1A3 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1042640 benign, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert's syndrome 233,772,898(+) G/C/T 3_prime_UTR_variant
rs10929303 benign, Gilbert's syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome 233,772,770(+) T/C 3_prime_UTR_variant
rs111033539 pathogenic, Crigler Najjar syndrome, type 1 233,767,160(+) C/T coding_sequence_variant, stop_gained
rs111033541 pathogenic, Crigler-Najjar syndrome, type II 233,760,331(+) T/G intron_variant
rs138183896 uncertain-significance, Lucey-Driscoll syndrome, Gilbert's syndrome, Crigler-Najjar syndrome 233,760,581(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UGT1A3 Gene

Variant ID Type Subtype PubMed ID
dgv769e199 CNV deletion 23128226
esv2422005 CNV deletion 20811451
esv25622 CNV loss 19812545
esv2721667 CNV deletion 23290073
esv2721669 CNV deletion 23290073
esv2760613 CNV loss 21179565
esv2760615 CNV loss 21179565
esv3594679 CNV loss 21293372
esv3594680 CNV loss 21293372
esv3594681 CNV gain 21293372
esv3594682 CNV loss 21293372
esv8142 CNV loss 19470904
nsv1010936 CNV loss 25217958
nsv1013712 CNV loss 25217958
nsv3215 CNV deletion 18451855
nsv433211 CNV loss 18776910
nsv498958 CNV loss 21111241
nsv514125 CNV loss 21397061
nsv519815 CNV loss 19592680
nsv584705 CNV loss 21841781
nsv961573 CNV duplication 23825009
nsv961574 CNV duplication 23825009
nsv963782 CNV duplication 23825009

Variation tolerance for UGT1A3 Gene

Residual Variation Intolerance Score: 74.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.62; 65.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT1A3 Gene

Human Gene Mutation Database (HGMD)
UGT1A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT1A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGT1A3 Gene

Disorders for UGT1A3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for UGT1A3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
gilbert syndrome
  • hyperbilirubinemia, gilbert type; hblrg
drug-induced hepatitis
  • drug-induced chronic hepatitis
acetaminophen metabolism
pericholangitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UGT1A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UGT1A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGT1A3 Gene

Publications for UGT1A3 Gene

  1. Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population. (PMID: 19204906) Ménard V … Guillemette C (Human mutation 2009) 3 4 22 44 58
  2. Gilbert's syndrome and hyperbilirubinemia in protease inhibitor therapy--an extended haplotype of genetic variants increases risk in indinavir treatment. (PMID: 19303655) Lankisch TO … Strassburg CP (Journal of hepatology 2009) 3 22 44 58
  3. Detoxification enzyme polymorphisms are not involved in duodenal adenomatosis in familial adenomatous polyposis. (PMID: 18161889) Berkhout M … Peters WH (The British journal of surgery 2008) 3 22 44 58
  4. Aryl hydrocarbon receptor-mediated regulation of the human estrogen and bile acid UDP-glucuronosyltransferase 1A3 gene. (PMID: 18677463) Lankisch TO … Strassburg CP (Archives of toxicology 2008) 3 22 44 58
  5. Genetic variants of human UGT1A3: functional characterization and frequency distribution in a Chinese Han population. (PMID: 16738032) Chen Y … Zeng S (Drug metabolism and disposition: the biological fate of chemicals 2006) 3 22 44 58

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