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Aliases for UGT1A4 Gene

Aliases for UGT1A4 Gene

  • UDP Glucuronosyltransferase 1 Family, Polypeptide A4 2 3
  • UGT1D 3 4 6
  • 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 63
  • UDPGT 1-4 3 4
  • HUG-BR2 3 4
  • UGT1-04 3 4
  • UGT-1D 3 4
  • UGT1.4 3 4
  • Bilirubin UDP-Glucuronosyltransferase Isozyme 2 3
  • UDP-Glucuronosyltransferase 1-4 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 1 Family, Polypeptide 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 Metabolism 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 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

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

Genomics for UGT1A4 Gene

Regulatory Elements for UGT1A4 Gene

Genomic Location for UGT1A4 Gene

Start:
233,718,778 bp from pter
End:
233,773,299 bp from pter
Size:
54,522 bases
Orientation:
Plus strand

Genomic View for UGT1A4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for UGT1A4 Gene at MOPED

Post-translational modifications for UGT1A4 Gene

  • Glycosylation at Asn119, Asn142, Asn296, and Asn348
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT1A4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UGT1A4 (UGT1A4)

Domains for UGT1A4 Gene

Gene Families for UGT1A4 Gene

HGNC:
  • UGT :UDP glucuronosyltransferases

Protein Domains for UGT1A4 Gene

Graphical View of Domain Structure for InterPro Entry

P22310

UniProtKB/Swiss-Prot:

UD14_HUMAN :
  • P22310
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

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 ISS 20610558
GO:0016758 transferase activity, transferring hexosyl groups --
GO:0019899 enzyme binding IPI 20610558
GO:0030246 carbohydrate binding --
genes like me logo Genes that share ontologies with UGT1A4: view

Animal Model Products

CRISPR Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for UGT1A4 Gene COMPARTMENTS Subcellular localization image for UGT1A4 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
golgi apparatus 2
nucleus 2
peroxisome 2
extracellular 1
lysosome 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for UGT1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum NAS 20610558
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UGT1A4: view

Pathways for UGT1A4 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Drug Metabolism: Phase II Enzymes in human,mouse,rat

Interacting Proteins for UGT1A4 Gene

Gene Ontology (GO) - Biological Process for UGT1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008152 metabolic process --
GO:0009813 flavonoid biosynthetic process IBA --
genes like me logo Genes that share ontologies with UGT1A4: view

Compounds for UGT1A4 Gene

(86) HMDB Compounds for UGT1A4 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

(10) Drugbank Compounds for UGT1A4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Asenapine
65576-45-6 enzyme substrate
Clozapine
5786-21-0 enzyme substrate
Ezogabine
  • D-23129
150812-12-7 enzyme substrate
Lamotrigine
  • GW 273293
84057-84-1 enzyme substrate
Midazolam
  • Dea No. 2884
59467-70-8 enzyme substrate

(27) Novoseek inferred chemical compound relationships for UGT1A4 Gene

Compound -log(P) Hits PubMed IDs
n-hydroxy-n-acetylbenzidine 88.9 1
n-acetylbenzidine 82.5 1
uridine diphosphate 81.9 3
glucuronide 81.2 3
n-hydroxy phip 75.5 2

(4) PharmGKB related drug/compound annotations for UGT1A4 Gene

Drug/compound Annotation
ABT-751 CA
anastrozole CA
clobazam
eltrombopag
genes like me logo Genes that share compounds with UGT1A4: view

Transcripts for UGT1A4 Gene

mRNA/cDNA for UGT1A4 Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UGT1A4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for UGT1A4
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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 for UGT1A4 Gene

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

This gene is overexpressed in Liver (52.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for UGT1A4 Gene

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.
genes like me logo Genes that share expressions with UGT1A4: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 -- 36
  • 95 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 36
  • 63 (a)
ManyToMany
-- 36
  • 64 (a)
ManyToMany
-- 36
  • 67 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 38 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Ugt1a2 36
  • 75 (a)
ManyToMany
Ugt1a5 35
  • 78.16 (n)
  • 76.33 (a)
Ugt1a5 36
  • 76 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ugt1a5 35
  • 80.31 (n)
  • 76.98 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 40 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 60 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ugt1a7 36
  • 50 (a)
ManyToMany
ugt1b1 36
  • 47 (a)
ManyToMany
ugt1b2 36
  • 45 (a)
ManyToMany
ugt1b3 36
  • 46 (a)
ManyToMany
ugt1b4 36
  • 46 (a)
ManyToMany
ugt1b5 36
  • 46 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10178 37
  • 25 (a)
Dot 37
  • 25 (a)
Ugt37c1 37
  • 29 (a)
Ugt86Dh 37
  • 26 (a)
Ugt36Ba 37
  • 30 (a)
BEST:GH06505 37
  • 29 (a)
CG5724 37
  • 29 (a)
CG17323 37
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea T07C5.1a 37
  • 26 (a)
C08F11.8 37
  • 28 (a)
C17G1.3 37
  • 25 (a)
ZC443.5 37
  • 27 (a)
C10H11.6 37
  • 24 (a)
F35H8.6 37
  • 29 (a)
F09G2.6 37
  • 26 (a)
K08B4.4 37
  • 25 (a)
F01D4.2 37
  • 23 (a)
R04B5.9 37
  • 25 (a)
AC3.2 37
  • 28 (a)
F47C10.6 37
  • 23 (a)
C03A7.11 37
  • 25 (a)
T01G5.2 37
  • 24 (a)
C10H11.4 37
  • 23 (a)
C33A12.6 37
  • 26 (a)
C10H11.5 37
  • 29 (a)
F01D4.1 37
  • 23 (a)
Species with no ortholog for UGT1A4:
  • 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

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

Variants for UGT1A4 Gene

Sequence variations from dbSNP and Humsavar for UGT1A4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
VAR_007710 Crigler-Najjar syndrome 2 (CN2)
VAR_007711 Crigler-Najjar syndrome 1 (CN1)
VAR_009506 Crigler-Najjar syndrome 2 (CN2)
VAR_009507 Crigler-Najjar syndrome 2 (CN2)
VAR_024684 -

Structural Variations from Database of Genomic Variants (DGV) for UGT1A4 Gene

Variant ID Type Subtype PubMed ID
esv2721667 CNV Deletion 23290073
nsv3215 CNV Loss 18451855
esv2721668 CNV Deletion 23290073
esv2661542 CNV Deletion 23128226
esv25622 CNV Loss 19812545
nsv498958 CNV Loss 21111241
dgv769e199 CNV Deletion 23128226
nsv433211 CNV Loss 18776910
esv2422005 CNV Deletion 20811451
nsv519815 CNV Loss 19592680
nsv514125 CNV Loss 21397061
esv8142 CNV Loss 19470904
esv2721669 CNV Deletion 23290073
nsv876018 CNV Gain 21882294

Relevant External Links for UGT1A4 Gene

HapMap Linkage Disequilibrium report
UGT1A4
Human Gene Mutation Database (HGMD)
UGT1A4

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

Disorders for UGT1A4 Gene

UniProtKB/Swiss-Prot

UD14_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. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Crigler-Najjar syndrome 1 (CN1) [MIM:218800]: Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive. {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.

(2) University of Copenhagen DISEASES for UGT1A4 Gene

(2) Novoseek inferred disease relationships for UGT1A4 Gene

Disease -log(P) Hits PubMed IDs
crigler-najjar syndrome 81.8 2
gilberts syndrome 57.4 2

Relevant External Links for UGT1A4

Genetic Association Database (GAD)
UGT1A4
Human Genome Epidemiology (HuGE) Navigator
UGT1A4
genes like me logo Genes that share disorders with UGT1A4: view

Publications for UGT1A4 Gene

  1. Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population. (PMID: 19204906) Menard V. … Guillemette C. (Hum. Mutat. 2009) 3 4 23 48
  2. Variation of hepatic glucuronidation: Novel functional polymorphisms of the UDP-glucuronosyltransferase UGT1A4. (PMID: 15057901) Ehmer U. … Strassburg C.P. (Hepatology 2004) 3 23 48
  3. Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. (PMID: 1898728) Ritter J.K. … Owens I.S. (J. Biol. Chem. 1991) 3 4 23
  4. UDP-glucuronosyltransferase 1A4 polymorphisms in a Japanese population and kinetics of clozapine glucuronidation. (PMID: 15708967) Mori A. … Takeuchi Y. (Drug Metab. Dispos. 2005) 3 23 48
  5. 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 Metab. Pharmacokinet. 2005) 3 23 48

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