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UGT1A1 Gene

protein-coding GIFtS: 58

GC02P226469

UDP glucuronosyltransferase 1 family, polypeptide A1
(Previous names: UDP glycosyltransferase 1 family, polypeptide A1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: UGT1, GNT1)

		Products

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

Aliases & Descriptions
UDP glucuronosyltransferase 1 family, polypeptide A1¹ ²		UDP-glucuronosyltransferase 1A1² ³
UGT1A¹ ² ³		UGT1-01² ³
GNT1² ³ ⁵		BILIQTL1² ⁵
UGT1² ³ ⁵		OTTHUMP00000065199²
UDP glycosyltransferase 1 family, polypeptide A1¹ ²		bilirubin UDP-glucuronosyltransferase isozyme 1²
Bilirubin-specific UDPGT isozyme 1² ³		bilirubin UDP-glucuronosyltransferase 1-1²
UDP-glucuronosyltransferase 1-A² ³		UDPGT²
UDPGT 1-1² ³		UDP-glucuronosyltransferase 1-1²
UGT-1A² ³		HUG-BR1²
UGT1.1² ³		EC 2.4.1.17³
UGT1*1² ³		hUG-BR1³

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

Export aliases for UGT1A1 gene to outside databases

Previous GC identifers: GC02U990253 GC02P234815 GC02P234878 GC02P234363 GC02P234450 GC02P234193 GC02P234203 GC02P234212 GC02P234223 GC02P234333 GC02P234668

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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

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

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the UGT1A1 gene promoter:
         NF-kappaB1   NF-kappaB   Max1   c-Myc   Max   HNF-4alpha2   COUP-TF1   AhR   p53   SRF
         Other transcription factors

Search SABiosciences Chromatin IP Primers for UGT1A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

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 gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P226469: view genomic region (about GC identifiers)

Start:	226,468,768 bp from pter
End:	226,481,779 bp from pter
Size:	13,012 bases
Orientation:	plus strand

1 alternative location:

Chr2+ 234,668,894-234,681,945

RefSeq DNA sequence:

NC_000002.11 NT_005120.16

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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 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 (A number of isoforms are produced. The different isozymes have a different N-terminal domain and a common C-terminal domain of 245 residues)

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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000454.1

ENSEMBL proteins:

ENSP00000304845

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for UGT1A1
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: UGT1A1
	GenScript Custom Purified and Recombinant Proteins Services for UGT1A1
	Novus Biologicals Protein for UGT1A1
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	IEA	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	IEA	--
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

About this table

UGT1A1 for ontologies About GeneDecksing

Antibodies for UGT1A1:

	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for UGT1A1
	R&D Systems Antibodies for UGT1A1 (Glucuronosyltransferase 1A1/UGT1A1)
	Cell Signaling Technology (CST) Antibodies for UGT1A1 (UGT)
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for UGT1A1
	Browse antibodies at Epitomics

Assays for UGT1A1:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript UGT1A1-Activity-based Enzymatic Assay for Compound Screening
	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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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

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

Enzyme Number (IUBMB): EC 2.4.1.17

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA for UGT1A1 Sigma-Aldrich shRNA for UGT1A1
		OriGene 29mer shRNA kits in GFP-retroviral vector: UGT1A1 OriGene shRNA RFP: UGT1A1 OriGene basic RS shRNA: UGT1A1 OriGene siRNA: UGT1A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of UGT1A1

miRNA:		Sigma-Aldrich microRNA Mimics for UGT1A1 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of UGT1A1
		Search SABiosciences for Assays for microRNAs that regulate UGT1A1

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: UGT1A1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: UGT1A1 OriGene untagged cDNA clones in CMV expression vector: UGT1A1 OriGene 3'-UTR clone: UGT1A1 Browse MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: UGT1A1
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for UGT1A1

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

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	--	--

About this table

UGT1A1 for ontologies About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

UGT1A1 for pathways About GeneDecksing

3 Millipore Pathways for UGT1A1

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

5/7 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for UGT1A1 (see all 7)

	Pentose and Glucuronate Interconversions
	Starch and Sucrose Metabolism
	Retinol Metabolism
	Xenobiotic Metabolism Signaling
	Metabolism of Xenobiotics by Cytochrome P450

5/10 Kegg Pathways (Kegg details for UGT1A1) (see all 10):

	hsa00040 Pentose and glucuronate interconversions
	hsa00053 Ascorbate and aldarate metabolism
	hsa00140 Steroid hormone biosynthesis
	hsa00500 Starch and sucrose metabolism
	hsa00830 Retinol metabolism

SABiosciences Pathway-Focused PCR Arrays including UGT1A1 (see all 3): PAHS-069A PAHS-094A

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for UGT1A1

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

5/24 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 24):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001889	liver development	IEA	--
GO:0006778	porphyrin metabolic process	TAS	--
GO:0006789	bilirubin conjugation	TAS	1339448
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0007584	response to nutrient	IEA	--

About this table

UGT1A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

UGT1A1 for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UGT1A1
10/100 Novoseek chemical compound relationships for UGT1A1 gene (see all 100)

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)

About this table

10/11 PharmGKB drug compound relationships for UGT1A1 gene (see all 11)

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
5-fluorouracil	CO GN	14740638
asparaginase	CO	15713801
cytarabine	CO	15713801
daunorubicin	CO	15713801
etoposide	CO PK FA GN	12695347 12969965 15713801
irinotecan	CO PD PK FA GN	11259359 11990381 9789606 9466980 12464801 14740638 10591539 15007088 15007084
mercaptopurine	CO	15713801
methotrexate	CO GN	14740638 15713801
prednisone	CO	15713801
tranilast	PD GN	15303110

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA for UGT1A1 Sigma-Aldrich shRNA for UGT1A1
		OriGene 29mer shRNA kits in GFP-retroviral vector: UGT1A1 OriGene shRNA RFP: UGT1A1 OriGene basic RS shRNA: UGT1A1 OriGene siRNA: UGT1A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of UGT1A1

miRNA:		Sigma-Aldrich microRNA Mimics for UGT1A1 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of UGT1A1
		Search SABiosciences for Assays for microRNAs that regulate UGT1A1

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: UGT1A1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: UGT1A1 OriGene untagged cDNA clones in CMV expression vector: UGT1A1 OriGene 3'-UTR Clone: UGT1A1 Browse OriGene MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: UGT1A1

Primers:		OriGene genome-wide validated SYBR primer pairs: UGT1A1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for UGT1A1: PPH01593A

REFSEQ mRNAs for UGT1A1 gene:

NM_000463.2

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 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.95190621 DT.121031076 DT.121031081 DT.121031100 DT.402187

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

AY435138 CB163625 CB163341 AK025403 BE464422 NM_205862 AV646429 AY435144

AI566081 BM829535 NM_007120 AI479279 BC043491 AY435136 NM_019077 AY435142

AI701383 AY435139 CB157019 NM_001072 AI795931 AY435140 NM_019076 BC053576

highest scoring ESTs for UGT1A1:

BF764030 AA398484 AA759285 AA854995 AA861692 AA904999 AA912512 AA993468 AI222339 AI587537

Unigene Cluster for UGT1A1:

UDP glucuronosyltransferase 1 family, polypeptide A1

Hs.554822 [show with all ESTs]

Unigene Representative Sequence: DQ364247

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000305208(uc010znc.1 uc002vvb.2)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

UGT1A1 expression in normal and diseased human tissues

¹ / ² / ³

12 probe-sets matching UGT1A1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
32392_s_at²^{, 3}	U95-A	9	1.00	0.15	1.00	0.91	M57951	0.80	0.26	0.60	1
42708_at²^{, 3}	U95-B	3	0.62	0.53	0.79	1.32	AA405907	0.20	0.06	0.15	2
207126_x_at²^{, 3}	U133-A	9	1.00	0.20	--	--	NM_000463	0.60	0.70	0.65	1
204532_x_at²^{, 3}	U133-A	9	1.00	0.20	--	--	NM_021027	0.40	0.37	0.39	1
215125_s_at²^{, 3}	U133-A	9	1.00	0.14	--	--	AV691323	0.40	0.56	0.48	1
208596_s_at²^{, 3}	U133-A	9	1.00	0.13	--	--	NM_019093	0.40	0.37	0.39	1
206094_x_at²^{, 3}	U133-A	9	0.82	0.13	--	--	NM_001072	0.40	0.37	0.39	1
207126_x_at²	U133Plus2	9	1.00	0.20	--	--	--	--	--	--	--
204532_x_at²	U133Plus2	9	1.00	0.20	--	--	--	--	--	--	--
215125_s_at²	U133Plus2	9	1.00	0.14	--	--	--	--	--	--	--
208596_s_at²	U133Plus2	9	1.00	0.13	--	--	--	--	--	--	--
206094_x_at²	U133Plus2	9	0.82	0.13	--	--	--	--	--	--	--

About this table

UGT1A1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

UGT1A1 gene electronic northern expression

About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.554822

UniProtKB/Swiss-Prot: UD11_HUMAN, P22309

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

Primers:		OriGene genome-wide validated SYBR primer pairs: UGT1A1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for UGT1A1: PPH01593A

SABiosciences Expression via Pathway-Focused PCR Arrays including UGT1A1 (see all 3): PAHS-069A PAHS-094A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for UGT1A1 gene from 5/6 species (see all 6)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
rat (Rattus norvegicus)	Ugt1a1¹	--	UDP glucuronosyltransferase 1 family, polypeptide A1	82.72(n) 80.15(a)	24861 NM_012683.2 NP_036815.1
mouse (Mus musculus)	Ugt1a1^{1 , 5}	1 (44.55 cM)⁵	UDP glucuronosyltransferase 1 family, polypeptide A1^{1, 5}	81.7(n)¹ 79.58(a)¹	394436¹ NM_201645.1¹ NP_964007.1¹ AA674349⁵ AF093878⁵ (see all 12)
chicken (Gallus gallus)	UGT1A1¹	--	UDP glucuronosyltransferase 1 family, polypeptide A1	66.41(n) 63.95(a)	424028 XM_421883.2 XP_421883.2
zebrafish (Danio rerio)	zgc:123097¹	--	zgc:123097	57.81(n) 54.3(a)	641488 NM_001037428.1 NP_001032505.1
fruit fly (Drosophila melanogaster)	Ugt36Bb³	36B1	glucuronosyltransferase	39(a) (best of 12)	--

About this table Species with no ortholog for UGT1A1

ENSEMBL Gene Tree for UGT1A1 (if available)

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

Paralogs for UGT1A1 gene

UGT1A5² UGT2A2² UGT1A8² UGT2B10² UGT1A10² UGT1A6² UGT2B15² UGT1A7²

UGT2B4² UGT2B7² UGT2B11² UGT2B17² UGT2A3² UGT1A3² UGT2B28² UGT1A9²

UGT1A4²

UGT1A1 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
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

QIAGEN SeqTarget long-range PCR primers for resequencing UGT1A1

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

UGT1A1 for disorders About GeneDecksing

OMIM: 191740 disorders: 218800 143500 606785 237900 601816

UniProtKB/Swiss-Prot: UD11_HUMAN, P22309

Defects in UGT1A1 are the cause of Gilbert syndrome [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 UGT1A1 may be a cause of transient familial neonatal hyperbilirubinemia [MIM:237900]. The defects

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

jaundice is a common problem in nursing infants. It 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 [MIM:143500], 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

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

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)

About this table

7 PharmGKB disease relationships for UGT1A1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
ALL (acute lymphoblastic leukemia)	PK GN	12969965
Colonic Neoplasms	CO PK	9466980
Gilbert syndrome	PK	9789606
Hyperbilirubinemia	PD GN	15303110
Leukemia, Lymphocytic, Acute, L1	CO	15713801
Neoplasms	CO PD PK GN	11259359 11990381 14740638 15007088
cancer or viral infections	PK GN	15007084

About this table

Human Gene Mutation Database (HGMD): UGT1A1
Genetic Association Database (GAD): UGT1A1
Human Genome Epidemiology (HuGE) Navigator: UGT1A1 (266 documents)

Export disorders and mutations for UGT1A1 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

10/767 PubMed articles for UGT1A1 gene, integrated from 7 sources (see all 767):
(articles sorted by number of sources associating them with UGT1A1)

Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia. (PubMed id 12969965)^{1, 4, 5, 7} Kishi S....Relling M.V. (2004)
Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. (PubMed id 15007088)^{1, 4, 5, 7} Innocenti F....Ratain M.J. (2004)
Genome-wide association meta-analysis for total serum bilirubin levels. (PubMed id 19414484)^{1, 2, 7} 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, 7} 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, 7} Shatalova E.G....Blanchard R.L. (2005)
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype- phenotype correlation. (PubMed id 15712364)^{1, 2, 7} Servedio V....Iolascon A. (2005)
The functional UGT1A1 promoter polymorphism decreases endometrial cancer risk. (PubMed id 14871858)^{1, 4, 7} 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, 7} Font A....Rosell R. (2003)
Relationship between bilirubin UDP-glucuronosyl transferase 1A1 gene and neonatal hyperbilirubinemia. (PubMed id 12357057)^{1, 4, 7} Huang C.S....Tsou K.I. (2002)
Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: a pharmacogenetic analysis. (PubMed id 11156391)^{1, 4, 7} Ando Y....Hasegawa Y. (2000)

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

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 54658	HGNC: 12530	AceView: UGT1A1	Ensembl:ENSG00000241635	euGenes: HUgn54658
ECgene: UGT1A1	Kegg: 54658	H-InvDB: UGT1A1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UGT1A1
Wikipedia	http://en.wikipedia.org/wiki/Glucuronosyltransferase

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UGT1A1 (Gene Symbol)
UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A
GNT1
UGT1
UDP glycosyltransferase 1 family, polypeptide A1
Bilirubin-specific UDPGT isozyme 1
UDP-glucuronosyltransferase 1-A
UDPGT 1-1
UGT-1A
UGT1.1
UGT1*1
UDP-glucuronosyltransferase 1A1
UGT1-01
BILIQTL1
OTTHUMP00000065199
bilirubin UDP-glucuronosyltransferase isozyme 1
bilirubin UDP-glucuronosyltransferase 1-1
UDPGT
UDP-glucuronosyltransferase 1-1
HUG-BR1
EC 2.4.1.17
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

protein-coding GIFtS: 58

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