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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UGT1A4 Gene

protein-coding GIFtS: 53
GCID: GC02P234627

UDP glucuronosyltransferase 1 family, polypeptide A4

(Previous names: UDP glycosyltransferase 1 family, polypeptide A4 )

Explore 17 diseases affiliated with
UGT1A4 via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
UDP Glucuronosyltransferase 1 Family, Polypeptide A4¹ ²		UDPGT 1-4² ³
UGT1D¹ ² ³ ⁵		EC 2.4.1.17³ ⁸
HUG-BR2¹ ²		UDPGT²
UDP Glycosyltransferase 1 Family, Polypeptide A4¹ ²		Bilirubin UDP-Glucuronosyltransferase Isozyme 2²
Bilirubin-Specific UDPGT Isozyme 2² ³		UDP-Glucuronosyltransferase 1-4²
UGT-1D² ³		GNT1³
UGT1-04² ³		UGT1³
UGT1.4² ³		UGT1*4³
UDP-Glucuronosyltransferase 1-D² ³		HUG-BR2¹ ²
UDP-Glucuronosyltransferase 1A4² ³

External Ids:	HGNC: 12536¹	Entrez Gene: 54657²	Ensembl: ENSG00000244474⁷	OMIM: 606429⁵	UniProtKB: P22310³

Export aliases for UGT1A4 gene to outside databases

Previous GC identifers: GC02U990252 GC02P234817 GC02P234880 GC02P234365 GC02P234409 GC02P234195 GC02P234205 GC02P234215 GC02P234292 GC02P226427

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UGT1A4:

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)

UniProtKB/Swiss-Prot: UD14_HUMAN, P22310

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

Gene Wiki entry for UGT1A4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the UGT1A4 gene promoter:
STAT5B STAT1 p53 STAT4 STAT2 STAT3 STAT1beta STAT5A STAT1alpha
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for UGT1A4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UGT1A4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37 Ensembl cytogenetic band: 2q37.1 HGNC cytogenetic band: 2q37

UGT1A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UGT1A4 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P234627: view genomic region (about GC identifiers)

Start:	234,627,424 bp from pter	End:	234,681,945 bp from pter
Size:	54,522 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: UD14_HUMAN, P22310 (See protein sequence)

Recommended Name: UDP-glucuronosyltransferase 1-4 precursor

Size: 534 amino acids; 60025 Da

Subcellular location: Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein (Potential)

Secondary accessions: B2R937 Q5DT00

Alternative splicing: 1 isoform: P22310-1

Explore the universe of human proteins at neXtProt for UGT1A4: NX_P22310

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P22310

4/20 DME Specific Peptides for UGT1A4 (P22310) (see all 20)

FWVEFVM

QYHSLDV

DVIGFLL

AAHDLTW

UGT1A4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_009051.1

ENSEMBL proteins:

ENSP00000362508 ENSP00000408608

Reactome Protein details: P22310
Human Recombinant Protein Products:

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	Uscn Proteins for UGT1A4

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	TAS	1898728
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0016021	integral to membrane	IEA	--

UGT1A4 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for UGT1A4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

UGT1A4 for domains About GeneDecksing

1 InterPro domain/family:

IPR002213 UDP_glucos_trans

Graphical View of Domain Structure for InterPro Entry P22310

ProtoNet protein and cluster: P22310

1 Blocks protein family: IPB002213 UDP-glucoronosyl/UDP-glucosyl transferase

UniProtKB/Swiss-Prot: UD14_HUMAN, P22310

Similarity: Belongs to the UDP-glycosyltransferase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: UD14_HUMAN, P22310

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

Catalytic activity: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside

Induction: By phenobarbital

Enzyme Number (IUBMB): EC 2.4.1.17¹ ²

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UGT1A4

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001972	NOT retinoic acid binding	IDA	--
GO:0015020	glucuronosyltransferase activity	IEA	--
GO:0016758	transferase activity, transferring hexosyl groups	--	--
GO:0019899	enzyme binding	IDA	--
GO:0042803	protein homodimerization activity	IPI	--

UGT1A4 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glucuronidation

Glucuronidation	1.00	Porphyrin and chlorophyll metabolism	0.38
Glucuronidation	0.67	Other types of O-glycan biosynthesis	0.36
Starch and sucrose metabolism	0.42	Drug metabolism - other enzymes	0.32

Tamoxifen metabolism

	Tamoxifen metabolism	1.00			Benzodiazepine Pathway, Pharmacokinetics	0.30
	Tamoxifen Pathway, Pharmacokinetics	0.68

Drug metabolism - cytochrome P450

	Drug metabolism - cytochrome P450	1.00			Retinol metabolism	0.40
	Metabolism of xenobiotics by cytochrome P450	0.73

Biological oxidations

	Biological oxidations	1.00			metapathway biotransformation	0.41
	Phase II conjugation	0.52

2-Naphthylamine and 2-Nitronaphtalene metabolism

2-Naphthylamine and 2-Nitronaphtalene metabolism

1.00

2-Naphthylamine and 2-Nitronaphtalene metabolism

0.95

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for UGT1A4

2-Naphthylamine and 2-Nitronaphtalene metabolism

1 GeneGo (Thomson Reuters) Pathway for UGT1A4

2-Naphthylamine and 2-Nitronaphtalene metabolism

5/7 BioSystems Pathways for UGT1A4 (see all 7)

	Glucuronidation
	nicotine degradation III
	nicotine degradation IV
	Tamoxifen metabolism
	Nicotine metabolism

4 Reactome Pathways for UGT1A4

	Metabolism
	Biological oxidations
	Phase II conjugation
	Glucuronidation

5/7 PharmGKB Pathways for UGT1A4 (see all 7)

	Benzodiazepine Pathway, Pharmacokinetics
	Estrogen Metabolism Pathway
	Irinotecan Pathway, Pharmacodynamics
	Nicotine Pathway, Pharmacokinetics
	Phenytoin Pathway, Pharmacokinetics

5/11 Kegg Pathways (Kegg details for UGT1A4) (see all 11):

	Pentose and glucuronate interconversions
	Ascorbate and aldarate metabolism
	Steroid hormone biosynthesis
	Starch and sucrose metabolism
	Other types of O-glycan biosynthesis

UGT1A4 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for UGT1A4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/57 Interacting proteins for UGT1A4 (ENSP00000362508⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ADH1B	ENSP00000306606⁴	STRING: ENSP00000306606
ADH4	ENSP00000265512⁴	STRING: ENSP00000265512
AKR1C4	ENSP00000263126⁴	STRING: ENSP00000263126
BLVRA	ENSP00000265523⁴	STRING: ENSP00000265523
CES2	ENSP00000317842⁴	STRING: ENSP00000317842

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

UGT1A4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

UGT1A4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UGT1A4

10/86 HMDB Compounds for UGT1A4 (see all 86) About this table

Compound	Synonyms	CAS #	PubMed Ids
Bilirubin diglucuronide	(2S,3S,4S,5R,6S)-6-[3-[2-[[3-[2-[(2S,3R,4S,5S,6S)-6-carboxy-3,4,5-trihydroxy-oxan-2-yl]oxycarbonylethyl]-5-[(E)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(E)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoyloxy]-3,4,5-trihydroxy-oxane-2-carboxylate (see all 5)	17459-92-6	9884306
Bilirubin glucuronide	bilirubin glucuronate (see all 10)	--	9884306
Cotinineglucuronide	cotinine-glucuronide (see all 4)	139427-57-9	14570768
Ethyl glucuronide		17685-04-0	16139098
Hydroxycotinine	(3R-trans)-3-hydroxy-1-methyl-5-(3-pyridinyl)-2-Pyrrolidinone (see all 5)	34834-67-8	15470160
Nicotine glucuronide	(S)-1-alpha-D-glucopyranuronosyl-3-(1-methyl-2-pyrrolidinyl)-Pyridinium inner salt (see all 11)	152306-59-7	14570768
Retinyl beta-glucuronide	Retinyl b-glucuronide (see all 2)	--	8600986
trans-3-Hydroxycotinine glucuronide	3'-Hydroxycotnine-glucuronide (see all 3)	132929-88-5	14570768
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)	(23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide) (see all 5)	--	--
1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid	Ibuprofen acyl glucuronide;(2S,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[2-[4-(2-methylpropyl)phenyl]propanoyloxy]oxane-2-carboxylic acid (see all 5)	115075-59-7	--

5 DrugBank Compounds for UGT1A4 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Lamotrigine	GW 273293 (see all 3)	84057-84-1	enzyme	substrate	19546240 19845433 19387891
Trifluoperazine	Trifluoperazin (see all 13)	117-89-5	enzyme	substrate	19487247 16381668 17620344
Clozapine	--	5786-21-0	enzyme	substrate	19515014
Troglitazone	--	97322-87-7	enzyme	substrate	12433820
Paricalcitol	--	131918-61-1	enzyme	substrate	--

10/27 Novoseek chemical compound relationships for UGT1A4 gene (see all 27) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
n-hydroxy-n'-acetylbenzidine	88.9	1	10506112 (1)
n-acetylbenzidine	82.5	1	10506112 (1)
uridine diphosphate	81.9	3	17430308 (1), 18161889 (1), 9733664 (1)
glucuronide	81.2	4	17359941 (1), 11560872 (1), 11408353 (1)
n-hydroxy phip	75.5	3	11375903 (1), 11408353 (1)
imipramine	71.3	19	16626519 (7), 12019188 (4), 12433823 (1), 12386132 (1) (see all 7)
lamotrigine	69.8	5	17430308 (1), 19487247 (1), 17151188 (1), 19546240 (1)
2-naphthylamine	68.3	1	7628292 (1)
benzidine	65.2	2	12351142 (1), 7628292 (1)
trifluoperazine	64.2	6	19487247 (2), 12019188 (1), 12167564 (1), 17620344 (1)

Search CenterWatch for drugs/clinical trials and news about UGT1A4 / UD14

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for UGT1A4 gene:

NM_007120.2

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373409(uc002vux.3) ENST00000450233(uc010zna.1)

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24/271 AceView cDNA sequences (see all 271):

BC053576 NM_019075 AY435139 AY435136 AI701383 BI764371 BM829535 AI478649

AI795931 BC043491 AI913618 BG165230 NM_019077 AY435138 NM_021027 BE464422

NM_019076 NM_205862 AW297730 AI767337 AV650286 AI566081 AY435137 AY435142

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

UGT1A4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See UGT1A4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UGT1A4

UniProtKB/Swiss-Prot: UD14_HUMAN, P22310

Tissue specificity: Expressed in liver. Not expressed in skin or kidney

SABiosciences Expression via Pathway-Focused PCR Array including UGT1A4:

Drug Metabolism: Phase II Enzymes in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for UGT1A4 gene from 3/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1P1M7_CHICK⁶ -- (see all 5)	Uncharacterized protein (see all 5)	57(a) 50(a) (see all 5)	possible ortholog possible ortholog (see all 5)	7(5795449-5817899) 7(5844610-5845328)
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	57(a) 46(a) (see all 3)	possible ortholog 1 ↔ many (see all 3)	1(118894319-118901649) 1(118865005-118865856)
zebrafish (Danio rerio)	Actinopterygii	ugt1ab⁶ ugt1b4⁶	UDP glucuronosyltransferase 1 family a, b UDP glucuronosyltransferase 1 family, polypeptide ...	50(a) 45(a)	many ↔ many many ↔ many	9(10194767-10228512) 11(31171792-31204741)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for UGT1A4 gene

UGT2A2² UGT1A8² UGT1A7² UGT3A1² UGT2B7² UGT2B11² UGT1A3² UGT1A1²

UGT1A5² UGT3A2² UGT2B10² UGT1A10² UGT1A6² UGT8² UGT2B15² UGT2B4²

UGT2B17² UGT2A3² UGT2B28² UGT1A9²

18/30 SIMAP similar genes for UGT1A4 using alignment to 14 protein entries: UD14_HUMAN (see all proteins) (see all similar genes):

UGT1A4S UGT1A3S UGT1A5 UGT1A3 UGT1A9S UGT1

UGT1A1 BILIQTL1 UGT1A8S UGT1A6 UGT1A10 UGT2B11

UGT1A6S UGT2B17 UGT1A8 UGT1A9 UGT2B28 UGT2A3

UGT1A4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for UGT1A4
10 CNVs: 90342 90341 61892 35795 50416 39282 37520 39281 63332 90340
Human Gene Mutation Database (HGMD): UGT1A4

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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UGT1A4 for disorders About GeneDecksing

OMIM gene information: 606429 OMIM disorders: --

UniProtKB/Swiss-Prot: UD14_HUMAN, P22310

Defects in UGT1A4 are the cause of Gilbert syndrome (GILBS) [MIM:143500]. Gilbert syndrome occurs as a

consequence of reduced bilirubin transferase activity and is often detected in young adults with vague nonspecific

complaints

Defects in UGT1A4 are the cause of Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]. CN1 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

Defects in UGT1A4 are the cause of Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]. CN2 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

17 diseases for UGT1A4: About MalaCards

crigler-najjar syndrome crigler najjar syndrome, type 2 familial adenomatous polyposis gilbert syndrome

neonatal jaundice kernicterus hearing loss jaundice

polyposis duodenitis liver disease pulmonary disease

esophagitis cholesterol schizophrenia adenocarcinoma

hepatitis

1 disease from the University of Copenhagen DISEASES database for UGT1A4:

Bilirubin metabolic disorder

2 Novoseek disease relationships for UGT1A4 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
crigler-najjar syndrome	81.8	2	2108190 (1), 1920916 (1)
gilberts syndrome	57.4	2	12012638 (1), 1920916 (1)

Genetic Association Database (GAD): UGT1A4
Human Genome Epidemiology (HuGE) Navigator: UGT1A4 (22 documents)

Export disorders for UGT1A4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for UGT1A4 gene, integrated from 9 sources (see all 121):
(articles sorted by number of sources associating them with UGT1A4)

Utopia: connect your pdf to the dynamic
world of online information

A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. (PubMed id 1339448)^{1, 2, 3} Ritter J.K....Owens I.S. (1992)
UDP-glucuronosyltransferase 1A4 polymorphisms in a Japanese population and kinetics of clozapine glucuronidation. (PubMed id 15708967)^{1, 4, 9} Mori A....Takeuchi Y. (2005)
Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II. (PubMed id 8280139)^{1, 2, 9} Aono S.... Koiwai O. (1993)
Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. (PubMed id 1898728)^{1, 2, 9} Ritter J.K.... Owens I.S. (1991)
Variation of hepatic glucuronidation: Novel functional polymorphisms of the UDP-glucuronosyltransferase UGT1A4. (PubMed id 15057901)^{1, 4, 9} Ehmer U....Strassburg C.P. (2004)
Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population. (PubMed id 19204906)^{1, 2, 9} MAcnard V....Guillemette C. (2009)
Urinary excretion of phenytoin metabolites, 5-(4'-hydroxyphenyl)-5-phenylhydantoin and its O-glucuronide in humans and analysis of genetic polymorphisms of UDP-glucuronosyltransferases. (PubMed id 15855726)^{1, 4, 9} Yamanaka H....Yokoi T. (2005)
Genetic variations and haplotypes of UGT1A4 in a Japanese population. (PubMed id 15855727)^{1, 4} Saeki M....Sawada J. (2005)
Correlation between UDP-glucuronosyltransferase genotypes and 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone glucuronidation phenotype in human liver microsomes. (PubMed id 14871856)^{1, 4} Wiener D....Lazarus P. (2004)
Multiple variable first exons: a mechanism for cell- and tissue- specific gene regulation. (PubMed id 14672974)^{1, 2} Zhang T.... Wu Q. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 54657	HGNC: 12536	AceView: UGT1A1	Ensembl:ENSG00000244474	euGenes: HUgn54657
ECgene: UGT1A4	Kegg: 54657	H-InvDB: UGT1A4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for UGT1A4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for UGT1A4 gene
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Patent Information for UGT1A4 gene:
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GeneCards and IP:
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UGT1A4 Gene

UDP glucuronosyltransferase 1 family, polypeptide A4

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UGT1A4 (Gene Symbol)
UDP Glucuronosyltransferase 1 Family, Polypeptide A4
UGT1D
HUG-BR2
UDP Glycosyltransferase 1 Family, Polypeptide A4
Bilirubin-Specific UDPGT Isozyme 2
UGT-1D
UGT1-04
UGT1.4
UDP-Glucuronosyltransferase 1-D
UDP-Glucuronosyltransferase 1A4
UDPGT 1-4
EC 2.4.1.17
UDPGT
Bilirubin UDP-Glucuronosyltransferase Isozyme 2
UDP-Glucuronosyltransferase 1-4
GNT1
UGT1
UGT1*4
HUG-BR2

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UGT1A4 Gene

UDP glucuronosyltransferase 1 family, polypeptide A4

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