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Aliases for UGT1A4 Gene

Aliases for UGT1A4 Gene

  • UDP Glucuronosyltransferase Family 1 Member A4 2 3
  • UDP Glucuronosyltransferase 1 Family, Polypeptide A4 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 63
  • 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 A4s 3
  • Bilirubin UDP-Glucuronosyltransferase Isozyme 2 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 Porphyrin and chlorophyll metabolism and Metabolism of xenobiotics by cytochrome P450. 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

Chromosome:
2
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

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

Proteomics data for UGT1A4 Gene at MOPED

Post-translational modifications for UGT1A4 Gene

  • Glycosylation at Asn 119, Asn 142, Asn 296, and Asn 348
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT1A4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Domains & Families for UGT1A4 Gene

Gene Families for UGT1A4 Gene

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

Gene Ontology (GO) - Molecular Function for UGT1A4 Gene

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

Animal Model Products

CRISPR 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
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
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for UGT1A4 Gene

Pathways & Interactions for UGT1A4 Gene

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

Interacting Proteins for UGT1A4 Gene

Gene Ontology (GO) - Biological Process for UGT1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0052695 cellular glucuronidation TAS --
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

(52) Drugs for UGT1A4 Gene - From: DrugBank, PharmGKB, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lamotrigine Approved, Investigational Pharma Enzyme, substrate 5-HT inhibitor 181
Trifluoperazine Approved Pharma Antagonist, Enzyme, substrate 5
Paricalcitol Approved, Investigational Pharma Enzyme, substrate 0
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 519
Clozapine Approved Pharma Antagonist, Enzyme, substrate Antipsychotic medication, Dopamine antagonist with some D4 selectivity. Also 5-HT2A/2C antagonist 113

(142) 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

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 (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



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 expression patterns with UGT1A4: view

Protein tissue co-expression partners for UGT1A4 Gene

- Elite partner

Primer Products

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
mouse
(Mus musculus)
Mammalia Ugt1a5 35
  • 78.16 (n)
  • 76.33 (a)
Ugt1a5 16
Ugt1a2 36
  • 75 (a)
ManyToMany
Ugt1a5 36
  • 76 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ugt1a5 35
  • 80.31 (n)
  • 76.98 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 63 (a)
ManyToMany
-- 36
  • 64 (a)
ManyToMany
-- 36
  • 67 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 38 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 95 (a)
OneToMany
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 BEST:GH06505 37
  • 29 (a)
CG10178 37
  • 25 (a)
CG17323 37
  • 27 (a)
CG5724 37
  • 29 (a)
Dot 37
  • 25 (a)
Ugt36Ba 37
  • 30 (a)
Ugt37c1 37
  • 29 (a)
Ugt86Dh 37
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea AC3.2 37
  • 28 (a)
C03A7.11 37
  • 25 (a)
C08F11.8 37
  • 28 (a)
C10H11.4 37
  • 23 (a)
C10H11.5 37
  • 29 (a)
C10H11.6 37
  • 24 (a)
C17G1.3 37
  • 25 (a)
C33A12.6 37
  • 26 (a)
F01D4.1 37
  • 23 (a)
F01D4.2 37
  • 23 (a)
F09G2.6 37
  • 26 (a)
F35H8.6 37
  • 29 (a)
F47C10.6 37
  • 23 (a)
K08B4.4 37
  • 25 (a)
R04B5.9 37
  • 25 (a)
T01G5.2 37
  • 24 (a)
T07C5.1a 37
  • 26 (a)
ZC443.5 37
  • 27 (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
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

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)

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

MalaCards: The human disease database

(5) MalaCards diseases for UGT1A4 Gene - From: 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
gilbert syndrome
  • constitutional hyperbilirubinemia
kernicterus
  • bilirubin encephalopathy
pericholangitis
- 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.

Relevant External Links for UGT1A4

Genetic Association Database (GAD)
UGT1A4
Human Genome Epidemiology (HuGE) Navigator
UGT1A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UGT1A4
genes like me logo Genes that share disorders with UGT1A4: view

No data available for Genatlas for UGT1A4 Gene

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 67
  2. Influence of N-terminal domain histidine and proline residues on the substrate selectivities of human UDP-glucuronosyltransferase 1A1, 1A6, 1A9, 2B7, and 2B10. (PMID: 19487247) Kerdpin O. … Miners J.O. (Drug Metab. Dispos. 2009) 23 25 26
  3. Up-regulation of UDP-glucuronosyltransferase (UGT) 1A4 by 17beta-estradiol: a potential mechanism of increased lamotrigine elimination in pregnancy. (PMID: 19546240) Chen H. … Jeong H. (Drug Metab. Dispos. 2009) 23 25 26
  4. Studies on induction of lamotrigine metabolism in transgenic UGT1 mice. (PMID: 19845433) Argikar U.A. … Remmel R.P. (Xenobiotica 2009) 23 25 26
  5. Interactions between human UGT1A1, UGT1A4, and UGT1A6 affect their enzymatic activities. (PMID: 17620344) Fujiwara R. … Yokoi T. (Drug Metab. Dispos. 2007) 23 25 26

Products for UGT1A4 Gene

Sources for UGT1A4 Gene

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