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Aliases for UGT1A4 Gene

Aliases for UGT1A4 Gene

  • UDP Glucuronosyltransferase Family 1 Member A4 2 3 5
  • UDP Glycosyltransferase 1 Family, Polypeptide A4 2 3
  • Bilirubin-Specific UDPGT Isozyme 2 3 4
  • UDP-Glucuronosyltransferase 1-D 3 4
  • UDP-Glucuronosyltransferase 1A4 3 4
  • EC 2.4.1.17 4 56
  • UDPGT 1-4 3 4
  • HUG-BR2 3 4
  • UGT1-04 3 4
  • UGT-1D 3 4
  • UGT1.4 3 4
  • UGT1D 3 4
  • UDP Glucuronosyltransferase 1 Family, Polypeptide A4 3
  • UDP-Glucuronosyltransferase 1 Family Polypeptide A4s 3
  • Bilirubin UDP-Glucuronosyltransferase Isozyme 2 3
  • UDP-Glucuronosyltransferase 1-4 3
  • UGT1A4S 3
  • UGT1*4 4
  • UDPGT 3
  • UGT1 4
  • GNT1 4

External Ids for UGT1A4 Gene

Previous GeneCards Identifiers for UGT1A4 Gene

  • GC02U990252
  • GC02P234817
  • GC02P234880
  • GC02P234365
  • GC02P234409
  • GC02P234195
  • GC02P234205
  • GC02P234215
  • GC02P234292
  • GC02P234627
  • GC02P226427

Summaries for UGT1A4 Gene

Entrez Gene Summary for UGT1A4 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. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008]

GeneCards Summary for UGT1A4 Gene

UGT1A4 (UDP Glucuronosyltransferase Family 1 Member A4) is a Protein Coding gene. Diseases associated with UGT1A4 include Crigler-Najjar Syndrome, Type I and Crigler-Najjar Syndrome, Type Ii. Among its related pathways are Drug metabolism - cytochrome P450 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 UGT1A4 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. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).

Gene Wiki entry for UGT1A4 Gene

Additional gene information for UGT1A4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UGT1A4 Gene

Genomics for UGT1A4 Gene

GeneHancer (GH) Regulatory Elements for UGT1A4 Gene

Promoters and enhancers for UGT1A4 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
GH02I233718 Promoter 0.9 EPDnew 550.8 0.0 -3 0.1 FOXA2 RXRA TAF1 MAX REST RAD21 FOXA1 YY1 JUND ATF3 GC02P233717 GC02P233719 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A9 UGT1A10 UGT1A8 UGT1A
GH02I233688 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 12 -27.8 -27777 4.1 NFIB JUN YY1 GATA3 RCOR1 FOSL2 FOS NFE2L2 SMARCE1 CEBPB UGT1A6 USP40 UGT1A4 MROH2A UGT1A7 UGT1A9 UGT1A10 UGT1A8 UGT1A
GH02I233867 Promoter/Enhancer 1.4 Ensembl ENCODE 9.9 +149.6 149605 1.2 HDAC1 ATF1 RB1 SIN3A ZNF76 ZNF2 ZNF335 POLR2B ZNF766 EGR1 MSL3P1 ENSG00000279809 TRPM8 UGT1A4 HJURP
GH02I233485 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.3 -231.0 -230983 4.4 JUN SIN3A GATA3 POLR2A FOSL2 FOS NFE2L2 TCF7L2 SMARCE1 CEBPB USP40 UGT1A4 PIR59405 LOC100422710
GH02I233763 Enhancer 0.9 FANTOM5 ENCODE 10.5 +45.7 45668 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 UGT1A4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UGT1A4 gene promoter:

Genomic Locations for UGT1A4 Gene

Genomic Locations for UGT1A4 Gene
chr2:233,718,778-233,773,299
(GRCh38/hg38)
Size:
54,522 bases
Orientation:
Plus strand
chr2:234,627,424-234,681,945
(GRCh37/hg19)

Genomic View for UGT1A4 Gene

Genes around UGT1A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT1A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT1A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT1A4 Gene

Proteins for UGT1A4 Gene

  • Protein details for UGT1A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22310-UD14_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 1-4
    Protein Accession:
    P22310
    Secondary Accessions:
    • B2R937
    • B8K288
    • Q5DT00

    Protein attributes for UGT1A4 Gene

    Size:
    534 amino acids
    Molecular mass:
    60025 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, UGT1A3, 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 UGT1A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGT1A4 Gene

Selected DME Specific Peptides for UGT1A4 Gene

P22310:
  • NTILVKWLPQNDL
  • PQNDLLGHP
  • AAHDLTW
  • MPNMVFIGGINC
  • PLFGDQMDNAKR
  • NALKAVIN
  • GAGVTLNVLEMT
  • DVIGFLL
  • DYPRPIMPNMVF
  • GKKGRVKKAHKSK
  • EPLDLAVFWVE
  • IADALGKIPQTVLWRYTG
  • FWVEFVM
  • VVFSLGSMV
  • VMRHKGA
  • KSYKENIMRLSSLHKDRP
  • QYHSLDV
  • CNGVPMV
  • HPMTRAF
  • PYASLASELFQREVS

Post-translational modifications for UGT1A4 Gene

  • Glycosylation at isoforms=2119, posLast=142142, posLast=296296, and isoforms=2348
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT1A4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for UGT1A4 Gene

Gene Families for UGT1A4 Gene

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

Protein Domains for UGT1A4 Gene

Graphical View of Domain Structure for InterPro Entry

P22310

UniProtKB/Swiss-Prot:

UD14_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT1A4: view

Function for UGT1A4 Gene

Molecular function for UGT1A4 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. 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).
UniProtKB/Swiss-Prot Induction:
By phenobarbital.

Enzyme Numbers (IUBMB) for UGT1A4 Gene

Phenotypes From GWAS Catalog for UGT1A4 Gene

Gene Ontology (GO) - Molecular Function for UGT1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 NOT retinoic acid binding IDA 20308471
GO:0015020 glucuronosyltransferase activity TAS --
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 UGT1A4: view
genes like me logo Genes that share phenotypes with UGT1A4: view

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UGT1A4 Gene

Localization for UGT1A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT1A4 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 UGT1A4 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 2
extracellular 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for UGT1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 17179145
GO:0005789 endoplasmic reticulum membrane TAS --
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 UGT1A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UGT1A4 Gene

Pathways & Interactions for UGT1A4 Gene

genes like me logo Genes that share pathways with UGT1A4: view

Gene Ontology (GO) - Biological Process for UGT1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006789 bilirubin conjugation TAS --
GO:0008152 metabolic process IEA --
GO:0042167 heme catabolic process TAS --
GO:0052695 cellular glucuronidation TAS --
GO:0052696 flavonoid glucuronidation IBA --
genes like me logo Genes that share ontologies with UGT1A4: view

No data available for SIGNOR curated interactions for UGT1A4 Gene

Drugs & Compounds for UGT1A4 Gene

(54) Drugs for UGT1A4 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lamotrigine Approved, Investigational Pharma Enzyme, substrate 5-HT inhibitor 189
Trifluoperazine Approved, Investigational Pharma Antagonist, Enzyme, substrate 5
Valproic Acid Approved, Investigational Pharma Enzyme, substrate HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333
Paricalcitol Approved, Investigational Pharma Enzyme, substrate Analog of VD2 active form 0
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 594

(141) Additional Compounds for UGT1A4 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
(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
(3a,5b,7a,12a)-24-[(carboxymethyl)amino]-1,12-dihydroxy-24-oxocholan-3-yl-b-D-Glucopyranosiduronic acid
  • Glycocholic acid 3-glucuronide
99794-78-2
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
genes like me logo Genes that share compounds with UGT1A4: view

Transcripts for UGT1A4 Gene

mRNA/cDNA for UGT1A4 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UGT1A4 Gene

No ASD Table

Relevant External Links for UGT1A4 Gene

GeneLoc Exon Structure for
UGT1A4
ECgene alternative splicing isoforms for
UGT1A4

Expression for UGT1A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UGT1A4 Gene

mRNA differential expression in normal tissues according to GTEx for UGT1A4 Gene

This gene is overexpressed in Liver (x52.0).

Protein differential expression in normal tissues from HIPED for UGT1A4 Gene

This gene is overexpressed in Liver (38.7) and Gallbladder (30.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UGT1A4 Gene



Protein tissue co-expression partners for UGT1A4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UGT1A4 Gene:

UGT1A4

mRNA Expression by UniProt/SwissProt for UGT1A4 Gene:

P22310-UD14_HUMAN
Tissue specificity: 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.

Evidence on tissue expression from TISSUES for UGT1A4 Gene

  • Liver(4.8)
  • Kidney(4.4)
  • Intestine(3.3)
genes like me logo Genes that share expression patterns with UGT1A4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT1A4 Gene

Orthologs for UGT1A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT1A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 95 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ugt1a5 33
  • 80.31 (n)
mouse
(Mus musculus)
Mammalia Ugt1a5 33 16 34
  • 78.16 (n)
Ugt1a2 34
  • 75 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 67 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 38 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 40 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 60 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ugt1a7 34
  • 50 (a)
ManyToMany
ugt1b1 34
  • 47 (a)
ManyToMany
ugt1b3 34
  • 46 (a)
ManyToMany
ugt1b4 34
  • 46 (a)
ManyToMany
ugt1b5 34
  • 46 (a)
ManyToMany
ugt1b2 34
  • 45 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Ugt36Ba 35
  • 30 (a)
BEST:GH06505 35
  • 29 (a)
CG5724 35
  • 29 (a)
Ugt37c1 35
  • 29 (a)
CG17323 35
  • 27 (a)
Ugt86Dh 35
  • 26 (a)
CG10178 35
  • 25 (a)
Dot 35
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea C10H11.5 35
  • 29 (a)
F35H8.6 35
  • 29 (a)
AC3.2 35
  • 28 (a)
C08F11.8 35
  • 28 (a)
ZC443.5 35
  • 27 (a)
C33A12.6 35
  • 26 (a)
F09G2.6 35
  • 26 (a)
T07C5.1a 35
  • 26 (a)
C03A7.11 35
  • 25 (a)
C17G1.3 35
  • 25 (a)
K08B4.4 35
  • 25 (a)
R04B5.9 35
  • 25 (a)
C10H11.6 35
  • 24 (a)
T01G5.2 35
  • 24 (a)
C10H11.4 35
  • 23 (a)
F01D4.1 35
  • 23 (a)
F01D4.2 35
  • 23 (a)
F47C10.6 35
  • 23 (a)
Species where no ortholog for UGT1A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 UGT1A4 Gene

ENSEMBL:
Gene Tree for UGT1A4 (if available)
TreeFam:
Gene Tree for UGT1A4 (if available)

Paralogs for UGT1A4 Gene

Variants for UGT1A4 Gene

Sequence variations from dbSNP and Humsavar for UGT1A4 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 UGT1A4 Gene

Variant ID Type Subtype PubMed ID
dgv769e199 CNV deletion 23128226
esv2422005 CNV deletion 20811451
esv25622 CNV loss 19812545
esv2661542 CNV deletion 23128226
esv2721667 CNV deletion 23290073
esv2721668 CNV deletion 23290073
esv2721669 CNV deletion 23290073
esv2760613 CNV loss 21179565
esv2760615 CNV loss 21179565
esv3561178 CNV deletion 23714750
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
nsv1126580 CNV deletion 24896259
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
nsv979187 CNV duplication 23825009

Variation tolerance for UGT1A4 Gene

Residual Variation Intolerance Score: 95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.79; 58.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT1A4 Gene

Human Gene Mutation Database (HGMD)
UGT1A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT1A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGT1A4 Gene

Disorders for UGT1A4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for UGT1A4 Gene - From: HGMD, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
crigler-najjar syndrome, type i
  • hyperbilirubinemia, crigler-najjar type i; hblrcn1
crigler-najjar syndrome, type ii
  • hyperbilirubinemia, crigler-najjar type ii; hblrcn2
gilbert syndrome
  • hyperbilirubinemia, gilbert type; hblrg
pericholangitis
kernicterus
  • bilirubin encephalopathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

UD14_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:1634050}. 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:8276413, ECO:0000269 PubMed:8280139}. 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:17496722}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UGT1A4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for UGT1A4 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. 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
  3. UDP-glucuronosyltransferase 1A4 polymorphisms in a Japanese population and kinetics of clozapine glucuronidation. (PMID: 15708967) Mori A … Takeuchi Y (Drug metabolism and disposition: the biological fate of chemicals 2005) 3 22 44 58
  4. Urinary excretion of phenytoin metabolites, 5-(4'-hydroxyphenyl)-5-phenylhydantoin and its O-glucuronide in humans and analysis of genetic polymorphisms of UDP-glucuronosyltransferases. (PMID: 15855726) Yamanaka H … Yokoi T (Drug metabolism and pharmacokinetics 2005) 3 22 44 58
  5. Variation of hepatic glucuronidation: Novel functional polymorphisms of the UDP-glucuronosyltransferase UGT1A4. (PMID: 15057901) Ehmer U … Strassburg CP (Hepatology (Baltimore, Md.) 2004) 3 22 44 58

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