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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UGT1A1 Gene

protein-coding GIFtS: 61
GCID: GC02P234668

UDP glucuronosyltransferase 1 family, polypeptide A1

(Previous names: UDP glycosyltransferase 1 family, polypeptide A1 )
(Previous symbols: UGT1, GNT1)

Explore 83 diseases affiliated with
UGT1A1 via

MalaCards

our new
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 A1¹ ²		UDP-Glucuronosyltransferase 1A1² ³
GNT1¹ ² ³ ⁵		UDPGT 1-1² ³
UGT1¹ ² ³ ⁵		EC 2.4.1.17³ ⁸
UGT1A¹ ² ³		BILIQTL1² ⁵
UDP Glycosyltransferase 1 Family, Polypeptide A1¹ ²		HUG-BR1²
Bilirubin-Specific UDPGT Isozyme 1² ³		UDPGT²
UGT-1A² ³		Bilirubin UDP-Glucuronosyltransferase 1-1²
UGT1*1² ³		Bilirubin UDP-Glucuronosyltransferase Isozyme 1²
UGT1-01² ³		UDP-Glucuronosyltransferase 1-1²
UGT1.1² ³		HUG-BR1²
UDP-Glucuronosyltransferase 1-A² ³

External Ids:	HGNC: 12530¹	Entrez Gene: 54658²	Ensembl: ENSG00000241635⁷	OMIM: 191740⁵	UniProtKB: P22309³

Export aliases for UGT1A1 gene to outside databases

Previous GC identifers: GC02U990253 GC02P234815 GC02P234878 GC02P234363 GC02P234450 GC02P234193 GC02P234203 GC02P234212 GC02P234223 GC02P234333 GC02P226469

(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 UGT1A1:

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. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with

simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II

and in Gilbert syndrome. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: UD11_HUMAN, P22309

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. Is also able to catalyze the glucuronidation of 17beta-estradiol,

17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and

umbelliferone

Gene Wiki entry for UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1)

PharmGKB "VIP" summary for UGT1A1

(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

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005120.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the UGT1A1 gene promoter:
AML1a p53 NRSF form 1 p300 Cdc5 HNF-4alpha1 Arnt HOXA5
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for UGT1A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UGT1A1

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

UGT1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UGT1A1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P234668: view genomic region (about GC identifiers)

Start:	234,668,894 bp from pter	End:	234,681,945 bp from pter
Size:	13,052 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: UD11_HUMAN, P22309 (See protein sequence)

Recommended Name: UDP-glucuronosyltransferase 1-1 precursor

Size: 533 amino acids; 59591 Da

Subunit: Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6,

PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX

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

Sequence caution: Sequence=AAA61247.1; Type=Erroneous gene model prediction; Sequence=AAF03522.2; Type=Erroneous gene

model prediction;

Alternative splicing: 1 isoform: P22309-1

Explore the universe of human proteins at neXtProt for UGT1A1: NX_P22309

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P22309

4/19 DME Specific Peptides for UGT1A1 (P22309) (see all 19)

FWVEFVM

QYHSLDV

DVIGFLL

GSHWLSM

UGT1A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000454.1

ENSEMBL proteins:

ENSP00000304845 ENSP00000353593

Reactome Protein details: P22309
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for UGT1A1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	--	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0005887	integral to plasma membrane	IEA	--
GO:0070069	cytochrome complex	IEA	--

UGT1A1 for ontologies About GeneDecksing

UGT1A1 Antibody Products:

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	Uscn Antibodies for UGT1A1
	Search ThermoFisher Antibodies for UGT1A1

Assay Products for UGT1A1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for UGT1A1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for UGT1A1

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

UGT1A1 for domains About GeneDecksing

1 InterPro domain/family:

IPR002213 UDP_glucos_trans

Graphical View of Domain Structure for InterPro Entry P22309

ProtoNet protein and cluster: P22309

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

UniProtKB/Swiss-Prot: UD11_HUMAN, P22309

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: UD11_HUMAN, P22309

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. Is also able to catalyze the glucuronidation of 17beta-estradiol,

17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and

umbelliferone

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

Biophysicochemical properties: Kinetic parameters: KM=0.26 uM for bilirubin; Vmax=1080 pmol/min/mg enzyme with

bilirubin as substrate;

Enzyme Number (IUBMB): EC 2.4.1.17¹ ²

miRNA Products:		OriGene 3'-UTR Clone: UGT1A1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UGT1A1
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate UGT1A1:
		hsa-miR-1260b hsa-miR-616* hsa-miR-371-5p hsa-miR-1260 hsa-miR-373*
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UGT1A1 (see all 7) OriGene shRNA RFP: UGT1A1 OriGene siRNA: UGT1A1
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for UGT1A1

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		GenScript Custom all cDNA clones Services for UGT1A1
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for UGT1A1
		Search LifeMap BioReagents cell lines for UGT1A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UGT1A1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001972	retinoic acid binding	IDA	--
GO:0004857	enzyme inhibitor activity	IDA	19996319
GO:0005496	steroid binding	IDA	19996319
GO:0015020	glucuronosyltransferase activity	TAS	--
GO:0016758	transferase activity, transferring hexosyl groups	--	--

UGT1A1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for UGT1A1:

Increased gamma-H2AX phosphory

(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 - 5/19 super-pathways (see all 19) 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

Acetaminophen Pathway, Pharmacokinetics

	Pathway_PA165986194 -need delete	1.00			Acetaminophen metabolism	0.43
	Acetaminophen Pathway, Pharmacokinetics	1.00			Acetaminophen metabolism	0.43

Irinotecan Pathway, Pharmacokinetics

	Irinotecan Pathway, Pharmacokinetics	1.00			Irinotecan Pathway, Pharmacodynamics	0.50
	Irinotecan Pathway	0.73

Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics

	Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics	1.00			Statin Pathway - Generalized, Pharmacokinetics	0.70
	Fluvastatin Pathway, Pharmacokinetics	0.80

Drug metabolism - cytochrome P450

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

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for UGT1A1

	Estradiol metabolism
	2-Naphthylamine and 2-Nitronaphtalene metabolism
	Acetaminophen metabolism

3 GeneGo (Thomson Reuters) Pathways for UGT1A1

	Estradiol metabolism
	2-Naphthylamine and 2-Nitronaphtalene metabolism
	Acetaminophen metabolism

5 BioSystems Pathways for UGT1A1

	Irinotecan Pathway
	Codeine and morphine metabolism
	Glucuronidation
	Estrogen metabolism
	metapathway biotransformation

5/6 Reactome Pathways for UGT1A1 (see all 6)

	Metabolism of porphyrins
	Metabolism
	Biological oxidations
	Heme degradation
	Phase II conjugation

5/14 PharmGKB Pathways for UGT1A1 (see all 14)

	Acetaminophen Pathway, Pharmacokinetics
	Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics
	Codeine and Morphine Pathway, Pharmacokinetics
	Erlotinib Pathway, Pharmacokinetics
	Estrogen Metabolism Pathway

5/11 Kegg Pathways (Kegg details for UGT1A1) (see all 11):

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

UGT1A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for UGT1A1

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

5/57 Interacting proteins for UGT1A1 (P22309³ ENSP00000304845⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
B3GALT1	Q9Y5Z6³, ENSP00000303740⁴	I2D: score=1 STRING: ENSP00000303740
ADH1B	ENSP00000306606⁴	STRING: ENSP00000306606
ADH4	ENSP00000265512⁴	STRING: ENSP00000265512
ADH7	ENSP00000209665⁴	STRING: ENSP00000209665
AKR1C4	ENSP00000263126⁴	STRING: ENSP00000263126

About this table

Gene Ontology (GO): 5/32 biological process terms (GO ID links to tree view) (see all 32): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001889	liver development	IEA	--
GO:0006778	porphyrin-containing compound metabolic process	TAS	--
GO:0006789	bilirubin conjugation	TAS	1339448
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0006953	acute-phase response	IEA	--

UGT1A1 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

UGT1A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UGT1A1

10/85 HMDB Compounds for UGT1A1 (see all 85) About this table

Compound	Synonyms	CAS #	PubMed Ids
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	15843492
Acetaminophen glucuronide	4-acetamidophenyl b-D-glucopyranosiduronic acid (see all 8)	16110-10-4	11714888
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
Ethyl glucuronide		17685-04-0	16139098
Ketoprofen glucuronide	1-(3-benzoyl-alpha-methylbenzeneacetate) beta-D-glucopyranuronic acid (see all 4)	76690-94-3	15843492
Retinyl beta-glucuronide	Retinyl b-glucuronide (see all 2)	--	8600986
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)	(23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide) (see all 5)	--	--
1-Salicylate glucuronide	1-salicylic acid glucuronide	--	--
11-Hydroxyprogesterone 11-glucuronide	11-hydroxyprogesterone 11-glucuronoside (see all 5)	77710-64-6	--

10/21 DrugBank Compounds for UGT1A1 (see all 21) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Estradiol	17beta oestradiol (see all 7)	50-28-2	enzyme	substrate	15535854 20620155
Ezetimibe	--	163222-33-1	enzyme	substrate	15871634 21368751
Indomethacin	IMN (see all 9)	53-86-1	enzyme	substrate inhibitor	15593333 19515014
Mycophenolic acid	--	24280-93-1	enzyme	substrate	21123165 16790558
Rifampin	RFP (see all 3)	13292-46-1	enzyme	inducer	11829457 16288819
Abacavir	--	136470-78-5	enzyme	--	18479171
Adenine	1H-Purin-6-amine (see all 5)	73-24-5	enzyme	inhibitor	17764847
Diclofenac	Diclofenac Acid (see all 4)	15307-86-5	enzyme	substrate	19515014
Flurbiprofen	FLP (see all 5)	5104-49-4	enzyme	substrate	19515014
Ibuprofen	Ibuprophen (see all 3)	15687-27-1	enzyme	substrate	19515014

10/100 Novoseek chemical compound relationships for UGT1A1 gene (see all 100) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
uridine diphosphate	92.6	37	14586211 (2), 10340924 (1), 19343046 (1), 18375480 (1) (see all 31)
irinotecan	90.8	208	19125128 (6), 17558305 (5), 19125129 (5), 15280927 (5) (see all 92)
sn38 glucuronide	89.7	20	18418374 (1), 16166450 (1), 16965601 (1), 17558305 (1) (see all 8)
sn 38	85.8	15	10340924 (1), 16545899 (1), 20196838 (1), 12485959 (1) (see all 13)
udp glucuronic acid	82.3	2	11956667 (1)
androstane	79.9	13	15849716 (2), 16399345 (1), 18334180 (1), 19541828 (1) (see all 10)
n-hydroxy phip	79.4	18	15310245 (5), 11408353 (3), 11375903 (1), 11442279 (1)
anthraflavic acid	77.7	2	12386134 (1), 12433804 (1)
glucuronide	75.1	8	12639971 (1), 9789606 (1), 16504606 (1), 11560872 (1) (see all 6)
uridine	71.5	16	15111762 (2), 18021224 (1), 17949292 (1), 20350053 (1) (see all 15)

3 PharmGKB related drug/compound annotations for UGT1A1 gene

Drug/compound	PharmGKB Annotation
SN-38	CA
irinotecan	CA DG DL
nilotinib	DL

About this table

Search CenterWatch for drugs/clinical trials and news about UGT1A1 / UD11

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 UGT1A1 gene:

NM_000463.2

Unigene Cluster for UGT1A1:

UDP glucuronosyltransferase 1 family, polypeptide A1

Hs.554822 [show with all ESTs]

Unigene Representative Sequence: DQ364247

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

ENST00000305208(uc002vvb.3) ENST00000360418(uc002vuq.3 uc010zmy.1 uc010znc.1)

miRNA Products:		OriGene 3'-UTR Clone: UGT1A1 Browse OriGene MicroRNA Expression Plasmids
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		5 QIAGEN miScript miRNA Assays for microRNAs that regulate UGT1A1:
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UGT1A1

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		GenScript Custom all cDNA clones Services for UGT1A1
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Additional cDNA sequence:

AF030310.1 AF056188.1 AF462267.1 AF462268.1 AK025403.1 AK290834.1 AK313488.1 AK313510.1

AK313623.1 AY435136.1 AY435137.1 AY435138.1 AY435139.1 AY435140.1 AY435141.1 AY435142.1

AY435143.1 AY435144.1 BC011409.1 BC019861.1 BC020971.1 BC043491.1 BC053576.1 BC058844.1

BC069210.1 BC121036.1 BC128414.1 BC128415.1 BC131623.1 BC139784.1 DQ364246.1 DQ364247.1

DQ364248.1 DQ364249.1 DQ364250.1 DQ364251.1 DQ383513.1 DQ383514.1 J04093.1 JQ686667.1

JQ699637.1 JQ699638.1 JQ699639.1 JQ699640.1 JQ699641.1 JQ699642.1 JQ699643.1 JQ699644.1

JQ699645.1 JQ699646.1 JQ699647.1 JQ699649.1 JQ699650.1 M57899.1 M57951.1 S55985.1

U89507.1 U89508.1

15 DOTS entries:

DT.444657 DT.91760041 DT.40291686 DT.95274199 DT.100794982 DT.100794979 DT.92022858 DT.102842562

DT.121031104 DT.97778278 DT.121031076 DT.121031081 DT.121031100 DT.402187 DT.95190621

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

AY435138 NM_205862 AY435143 NM_019076 BE464379 NM_019093 AI478649 AI701383

AI479279 AY435136 NM_019077 AV646429 BI764371 CB157019 BC043491 AW297730

AV650286 AI795931 AY435141 AY435139 AU076863 CB163341 AY435137 BM829535

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

UGT1A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTGTTTGG

About this image

UGT1A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Mature Hepatocytes

Selective marker (cell-identifying gene)

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See UGT1A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UGT1A1

SOURCE GeneReport for Unigene cluster: Hs.554822

UniProtKB/Swiss-Prot: UD11_HUMAN, P22309

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

SABiosciences Expression via Pathway-Focused PCR Arrays including UGT1A1:

Nephrotoxicity in human mouse rat

Drug Metabolism: Phase II Enzymes in human mouse rat

Molecular Toxicology PathwayFinder 384HT 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 animals.

Orthologs for UGT1A1 gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	UGT1A1¹	UDP glucuronosyltransferase 1 family, polypeptide A1	64.15(n) 61.44(a)		424028 XM_003641558.1 XP_003641606.1
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	60(a) 53(a) (see all 3)	possible ortholog 1 ↔ many (see all 3)	1(118894319-118901649) 1(118865005-118865856)
zebrafish (Danio rerio)	Actinopterygii	ugt1a1¹	UDP glucuronosyltransferase 1 family polypeptide a1	57.94(n) 54.3(a)		641488 NM_001037428.2 NP_001032505.2
fruit fly (Drosophila melanogaster)	Insecta	Ugt36Bb³ Ugt86Di¹	glucuronosyltransferase³ CG6658-PA¹	39(a) (best of 12)³ 43.79(n)¹ 30.85(a)¹		36B1³ 53502¹ NM_144363.2¹ NP_652620.1¹

ENSEMBL Gene Tree for UGT1A1 (if available)
TreeFam Gene Tree for UGT1A1 (if available)

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

Paralogs for UGT1A1 gene

UGT2A2² UGT1A8² UGT1A7² UGT3A1² UGT2B7² UGT2B11² UGT1A3² UGT1A5²

UGT3A2² UGT2B10² UGT1A10² UGT1A6² UGT8² UGT2B15² UGT2B4² UGT2B17²

UGT2A3² UGT2B28² UGT1A9² UGT1A4²

18/30 SIMAP similar genes for UGT1A1 using alignment to 6 protein entries: UD11_HUMAN (see all proteins) (see all similar genes):

BILIQTL1 UGT1A3S UGT1A9S UGT1 UGT1A6 UGT1A8S

UGT1A4S UGT1A6S UGT1A5 UGT1A10 UGT1A4 UGT1A3

UGT1A9 UGT1A8 UGT2A3 UGT2B17 UGT2B15 UGT1A7

UGT1A1 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)
About This Section

UniProtKB/Swiss-Prot: UD11_HUMAN, P22309

Polymorphism: Genetic variation in UGT1A1 defines the bilirubin serum levels quantitative trait locus 1 (BILIQTL1)

[MIM:601816]. Variation in serum bilirubin is associated with altered cardiovascular disease risk and drug metabolism

Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for UGT1A1
1 CNV: 35795
Human Gene Mutation Database (HGMD): UGT1A1

SABiosciences Cancer Mutation PCR Assays

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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.)
About This Section

UGT1A1 for disorders           About GeneDecksing

OMIM gene information: 191740
OMIM disorders: 218800  143500  606785  237900  601816
UniProtKB/Swiss-Prot: UD11_HUMAN, P22309

Defects in UGT1A1 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 non-specific

complaints

Defects in UGT1A1 may be a cause of transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900]. A

condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk

jaundice is a common problem in nursing infants. Note=The defect has been ascribed to various breast milk substances,

but the component or combination of components that is responsible remains unclear. Defects of UGT1A1 are an

underlying cause of the prolonged unconjugated hyperbilirubinemia associated with breast milk. One or more components

in the milk may trigger the jaundice in infants who have such mutations. Mutations are identical to those detected in

patients with Gilbert syndrome, a risk factor of neonatal non-physiologic hyperbilirubinemia and a genetic factor in

fasting hyperbilirubinemia

Defects in UGT1A1 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 UGT1A1 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

20/83 diseases for UGT1A1 (see all 83): About MalaCards

crigler-najjar syndrome gilbert syndrome hyperbilirubinemia, familial transcient neonatal bilirubin, serum level of, qtl1

5-fluorouracil toxicity crigler najjar syndrome, type 2 dubin-johnson syndrome drug-induced hepatitis

pyloric stenosis hypertrophic pyloric stenosis alpha thalassemia beta thalassemia

brain stem glioma intermittent claudication dyserythropoietic anemia thalassemia

congenital dyserythropoietic anemia spherocytosis familial adenomatous polyposis type 2 diabetes mellitus

7 diseases from the University of Copenhagen DISEASES database for UGT1A1:

Bilirubin metabolic disorder Neonatal jaundice Neutropenia Diarrhea

Kernicterus Cholelithiasis Colorectal cancer

10/42 Novoseek disease relationships for UGT1A1 gene (see all 42) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gilberts syndrome	97.1	134	10091406 (4), 7565971 (3), 12499798 (3), 12139570 (3) (see all 89)
crigler-najjar syndrome	93.8	32	11855932 (2), 9156798 (2), 19830808 (2), 10097514 (1) (see all 27)
hyperbilirubinemia	92.4	116	15965581 (4), 11422622 (3), 19672597 (3), 14647407 (3) (see all 72)
crigler-najjar syndrome, type ii	91	9	9630669 (2), 11983459 (1), 7565971 (1), 10364060 (1) (see all 8)
jaundice neonatal	81.2	19	12357057 (2), 19397531 (2), 12502904 (2), 15491385 (1) (see all 15)
najjar syndrome	80.6	1	16969497 (1)
kernicterus	63.3	3	9653159 (1), 11370628 (1), 16735790 (1)
neutropenia	62.2	16	19125128 (4), 19125129 (2), 19390945 (2), 19620808 (2) (see all 9)
g6pd deficiency	57.3	9	15965581 (2), 16237771 (2), 12439228 (1), 12680285 (1) (see all 6)
cholelithiasis	51.5	22	18081723 (5), 15710570 (4), 16237771 (3), 19309288 (2) (see all 9)

Genetic Association Database (GAD): UGT1A1
Human Genome Epidemiology (HuGE) Navigator: UGT1A1 (289 documents)

Export disorders for UGT1A1 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)
About This Section

PubMed articles for UGT1A1 gene, integrated from 9 sources (see all 823):
(articles sorted by number of sources associating them with UGT1A1)

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

Genome-wide association meta-analysis for total serum bilirubin levels. (PubMed id 19414484)^{1, 2, 9} Johnson A.D....Witteman J.C. (2009)
Association of genetic polymorphisms in UGT1A1 with breast cancer and plasma hormone levels. (PubMed id 11401924)^{1, 4, 9} Guillemette C....Hunter D.J. (2001)
Genetic polymorphisms in human SULT1A1 and UGT1A1 genes associate with breast tumor characteristics: a case-series study. (PubMed id 16280036)^{1, 4, 9} Shatalova E.G....Blanchard R.L. (2005)
Crigler-Najjar syndrome in The Netherlands: identific ation of four novel UGT1A1 alleles, genotype-phenotype correlation, and functio nal analysis of 10 missense mutants. (PubMed id 19830808)^{1, 2, 9} Sneitz N....Bosma P.J. (2010)
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype- phenotype correlation. (PubMed id 15712364)^{1, 2, 9} Servedio V....Iolascon A. (2005)
The functional UGT1A1 promoter polymorphism decreases endometrial cancer risk. (PubMed id 14871858)^{1, 4, 9} Duguay Y....De Vivo I. (2004)
Weekly regimen of irinotecan/docetaxel in previously treated non-small cell lung cancer patients and correlation with uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) polymorphism. (PubMed id 14586211)^{1, 4, 9} Font A....Rosell R. (2003)
Relationship between bilirubin UDP-glucuronosyl transferase 1A1 gene and neonatal hyperbilirubinemia. (PubMed id 12357057)^{1, 4, 9} Huang C.S....Tsou K.I. (2002)
Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: a pharmacogenetic analysis. (PubMed id 11156391)^{1, 4, 9} Ando Y....Hasegawa Y. (2000)
Glucuronidation of acetaminophen is independent of UGT1A1 promotor genotype. (PubMed id 15180166)^{1, 4, 9} Rauchschwalbe S.K....Kuhlmann J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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: 54658	HGNC: 12530	AceView: UGT1A1	Ensembl:ENSG00000241635	euGenes: HUgn54658
ECgene: UGT1A1	Kegg: 54658	H-InvDB: UGT1A1

(According to HUGE)
About This Section

(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 UGT1A1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UGT1A1
Wikipedia	http://en.wikipedia.org/wiki/Glucuronosyltransferase

Intellectual Property for UGT1A1 gene
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UGT1A1 Gene

UDP glucuronosyltransferase 1 family, polypeptide A1

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UGT1A1 (Gene Symbol)
UDP Glucuronosyltransferase 1 Family, Polypeptide A1
GNT1
UGT1
UGT1A
UDP Glycosyltransferase 1 Family, Polypeptide A1
Bilirubin-Specific UDPGT Isozyme 1
UGT-1A
UGT1*1
UGT1-01
UGT1.1
UDP-Glucuronosyltransferase 1-A
UDP-Glucuronosyltransferase 1A1
UDPGT 1-1
EC 2.4.1.17
BILIQTL1
HUG-BR1
UDPGT
Bilirubin UDP-Glucuronosyltransferase 1-1
Bilirubin UDP-Glucuronosyltransferase Isozyme 1
UDP-Glucuronosyltransferase 1-1
HUG-BR1

G6PD DEFICIENCY
stable disease
Crigler-Najjar Syndrome
Colon Cancer
Genetic Susceptibility
Anemia Hemolytic
Thalassemia
Carcinoma
CRIGLER-NAJJAR SYNDROME, TYPE II
Liver diseases
Leukopenia
Breast Cancer
NSCLC
Jaundice Neonatal
alpha-Thalassemia
beta-Thalassemia
Adenocarcinoma
HEPATOCELLULAR CARCINOMA
Cancer
Spherocytosis Hereditary
Hemolysis
Cancer Lung
chronic pancreatitis
Coronary Artery Disease
Cholelithiasis
Colorectal Cancer
Liver Dysfunction
NAJJAR SYNDROME
Inflammation
solid tumor
SICKLE CELL DISEASE
immunodeficiency
Hepatitis
Neutropenia
GILBERTS SYNDROME
LIVER DAMAGE
Kernicterus
Hepatitis Autoimmune
Tumors
Lymphoblastic Leukemia Acute
Hyperbilirubinemia
Endometrial Cancer

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UGT1A1 Gene

UDP glucuronosyltransferase 1 family, polypeptide A1

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