UGT2A1 Gene
protein-coding GIFtS: 51
GC04M070454
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UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus
(Previous names: UDP glycosyltransferase 2 family, polypeptide A1, UDP glucuronosyltransferase 2 family, polypeptide A1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for UGT2A1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus1 2 | | OTTHUMP000002204832 | | UDP glycosyltransferase 2 family, polypeptide A11 2 | | UDP-glucuronosyltransferase 2A12 | | UDPGT 2A12 3 | | OTTHUMP000002204812 | | UDP glucuronosyltransferase 2 family, polypeptide A11 | | UGT2A23 | | OTTHUMP000002204822 | | EC 2.4.1.173 |
Export aliases for UGT2A1 gene to outside databasesPrevious GC identifers: GC04P070020 GC04M070503 GC04M070704 GC04M070770 GC04M070635 |
Summaries
for UGT2A1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for UGT2A1:
The olfactory neuroepithelium, which lines the posterior nasal cavity, is exposed to a wide range of odorants andairborne toxic compounds. Odorants, which are mostly small lipophilic molecules, enter the mucus flow and reach theodorant receptors on sensory neurons. Odorant sensing is generally a transient process, requiring an effective signaltermination, which could be provided by biotransformation of the odorant in the epithelial supporting cells.Xenobiotic-metabolizing enzymes in the olfactory epithelium have been suggested to catalyze inactivation andfacilitate elimination of odorants.(supplied by OMIM)
UniProtKB/Swiss-Prot: UD2A1_HUMAN, Q9Y4X1Function: UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates areconjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance inthe conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active onodorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensoryepithelium
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Genomic Views
for UGT2A1 gene
(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 UGT2A1 gene promoter:
FOXC1 POU2F1 ATF6 NF-AT1 NF-AT2 NF-AT3 NF-AT4 Tal-1beta ITF-2 FOXD3
Other transcription factors
Search SABiosciences Chromatin IP Primers for UGT2A1
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: 4q13 Ensembl cytogenetic band: 4q13.3 HGNC cytogenetic band: 4q13UGT2A1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04M070454: view genomic region
(about GC identifiers)
Start:
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70,454,135 bp from pter |
End:
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70,518,967 bp from pter |
Size:
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64,833 bases |
Orientation:
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minus strand |
1 alternative location:
| Chr4- 66,252,679-66,316,779 |
RefSeq DNA sequence:- NC_000004.11 NT_022778.16
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Proteins
for UGT2A1 gene
(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
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UniProtKB/Swiss-Prot: UD2A1_HUMAN, Q9Y4X1 (See
protein sequence)Recommended Name: UDP-glucuronosyltransferase 2A1 precursor Size: 527 amino acids; 59926 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Caution: According to HGNC, UGT2A1 and UGT2A2 are 2 separate genes. However, they share common exons at the C-terminus,suggesting that UGT2A1 and UGT2A2 are different isoforms encoded by the same locus
Secondary accessions: D3GER1 D3GER2Alternative splicing: 3 isoforms: Q9Y4X1-1 Q9Y4X1-2 Q9Y4X1-3 Explore the universe of human proteins at neXtProt for UGT2A1: NX_Q9Y4X1
REFSEQ proteins: NP_006789.2
ENSEMBL proteins: ENSP00000427709 ENSP00000421432 ENSP00000424478 ENSP00000286604 ENSP00000425497 ENSP00000387888
Human Recombinant Proteins
2 Gene Ontology (GO) cellular component terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016020 | membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
About this table
UGT2A1 for ontologies About GeneDecksing
Antibodies for UGT2A1:
Assays for UGT2A1: |
Protein
Domains/
Families
for UGT2A1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
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UGT2A1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9Y4X1ProtoNet protein and cluster: Q9Y4X1 1 Blocks protein family: IPB002213 UDP-glucoronosyl/UDP-glucosyl transferase
UniProtKB/Swiss-Prot: UD2A1_HUMAN, Q9Y4X1Similarity: Belongs to the UDP-glycosyltransferase family |
Gene Function
for UGT2A1 gene
(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: UD2A1_HUMAN, Q9Y4X1Function: UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates areconjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance inthe conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active onodorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensoryepitheliumCatalytic activity: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronosideBiophysicochemical properties: Kinetic parameters: KM=75.4 uM for 3-hydroxybiphenyl; KM=59.5 uM for umbelliferone;KM=51.6 uM for S-(-)-b-citronellol; KM=170.1 uM for borneol; KM=56.2 uM for testosterone; KM=251 uM forUDP-glucuronate; Vmax=2.60 nmol/min/mg enzyme with 3-hydroxybiphenyl as substrate; Vmax=0.61 nmol/min/mg enzyme withumbelliferone as substrate; Vmax=1.98 nmol/min/mg enzyme with S-(-)-b-citronellol as substrate; Vmax=1.05 nmol/min/mgenzyme with borneol as substrate; Vmax=0.25 nmol/min/mg enzyme with testosterone as substrate;Enzyme Number (IUBMB): EC 2.4.1.17
Genatlas biochemistry entry for UGT2A1:UDP glucoronosyltransferase 2 alpha 1,specific for the olfactory tissue2 Gene Ontology (GO) molecular function terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0015020 | glucuronosyltransferase activity |
IEA | -- | | GO:0016758 | transferase activity, transferring hexosyl groups |
-- | -- |
About this table
UGT2A1 for ontologies About GeneDecksing
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Pathways & Interactions
for UGT2A1 gene
(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
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UGT2A1 for pathways About GeneDecksing
5/6  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for UGT2A1 (see all 6)
5/10  Kegg Pathways (Kegg details for UGT2A1) (see all 10):
SABiosciences Pathway-Focused PCR Arrays including UGT2A1: PAHS-069A PAHS-3401A
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for UGT2A1
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UGT2A1
5/53 Interacting proteins for UGT2A1 (ENSP000002866043) via UniProtKB, MINT, and/or STRING (see all 53)About this table
4 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
UGT2A1 for ontologies About GeneDecksing
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Drugs & Compounds
for UGT2A1 gene(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
|
 Browse Tocris compounds for UGT2A1
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Transcripts
for UGT2A1 gene(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
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REFSEQ mRNAs for UGT2A1 gene: NM_006798.2 Additional cDNA sequence: AJ006054.1 AK304249.1 AK314209.1 BC142640.1 FJ664272.1 FJ664273.1 2 DOTS entries: DT.92415436 DT.91913500 7 AceView cDNA sequences: AJ006054 NM_006798 CD105882 BX283268 BG400151 BG185464 BG186196
 highest scoring ESTs for UGT2A1:AJ006054 NM_006798 BG185464 BG186196 BG400151 BX283268 CD105882 BE463677 BP276996 Unigene Cluster for UGT2A1: UDP glucuronosyltransferase 2 family, polypeptide A1 Hs.225950 [show with all ESTs]Unigene Representative Sequence: NM_006798
GeneLoc Exon Structure
8 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000505512 ENST00000512704(uc010iht.2) ENST00000514341 ENST00000503640(uc003hem.3)
ENST00000286604 ENST00000514019 ENST00000502343 ENST00000457664(uc010ihs.2 uc011caq.1 uc010ihu.2)
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Expression
for UGT2A1 gene
(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
| UGT2A1 expression in normal and diseased human tissues
1 / 2 / 3 3 probe-sets matching UGT2A1 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 31646_at2, 3
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U95-A |
2 |
1.00 |
0.69 |
1.00 |
1.00 |
AJ006054 |
1.00 |
1.00 |
1.00 |
1 |
| 207958_at2, 3
|
U133-A |
2 |
1.00 |
0.64 |
-- |
-- |
NM_006798 |
0.60 |
1.00 |
0.82 |
1 |
| 207958_at2
|
U133Plus2 |
2 |
1.00 |
0.64 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
UGT2A1 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: ATTATTATTA
SOURCE GeneReport for Unigene cluster: Hs.225950
Expression variation in blood from EXPOLDB for UGT2A1 UniProtKB/Swiss-Prot: UD2A1_HUMAN, Q9Y4X1Tissue specificity: Olfactory epithelium and brain. Isoform 2 is mainly expressed in the nasal mucosa
SABiosciences Expression via Pathway-Focused PCR Arrays including UGT2A1: PAHS-069A PAHS-3401A
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Orthologs
for UGT2A1 gene
(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 UGT2A1 gene from 5/7 species (see all 7)
About this table Species with no ortholog for UGT2A1
ENSEMBL Gene Tree for UGT2A1 (if available) |
Paralogs
for UGT2A1 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for UGT2A1 gene
- UGT1A52 UGT1A82 UGT2B102 UGT1A102 UGT1A62 UGT2B152 UGT1A72 UGT2B42
- UGT2B72 UGT2B112 UGT2B172 UGT2A32 UGT1A32 UGT1A12 UGT2B282 UGT1A92
- UGT1A42
UGT2A1 for paralogs About GeneDecksing
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Genomic Variants
for UGT2A1 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 4 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for UGT2A1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 16 variations for UGT2A1
15 CNVs: 92191 80359 92189 23048 22681 36292 80360 92188 7451 6276 53271 80358 36293 92190 63855
1 Indel: 80361 | | QIAGEN SeqTarget long-range PCR primers for resequencing UGT2A1 |
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Disorders & Mutations
for UGT2A1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
UGT2A1 for disorders About GeneDecksing
OMIM: 604716
Human Genome Epidemiology (HuGE) Navigator: UGT2A1 (2 documents)
Export disorders and mutations for UGT2A1 gene to outside databases
|
Medical News
for UGT2A1 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for UGT2A1 gene (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 PubMed articles for UGT2A1 gene integrated from 7 sources:
(articles sorted by number of sources associating them with UGT2A1)- Cloning and characterization of a novel human olfactory UDP- glucuronosyltransferase. (PubMed id 10359671)1, 2, 3 Jedlitschky G.A.... Burchell B. (1999)
- Human UDP-glucuronosyltransferase UGT2A2: cDNA constr uction, expression, and functional characterization in comparison with UGT2A1 a nd UGT2A3. (PubMed id 19858781)1, 2 Sneitz N....Finel M. (2009)
- Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1 Saito A....Kamatani N. (2009)
- Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PubMed id 19898482)1 Ross C.J....Hayden M.R. (2009)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
- Nomenclature update for the mammalian UDP glycosyltransferase (UGT) gene superfamily. (PubMed id 16141793)1 Mackenzie P.I....Nebert D.W. (2005)
- Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and UGT8. (PubMed id 12376738)1 Iida A....Nakamura Y. (2002)
- Genetic multiplicity of the human UDP-glucuronosyltransferases and regulation in the gastrointestinal tract. (PubMed id 11179432)1 Tukey R.H. and Strassburg C.P. (2001)
- Rat olfactory bulb and epithelium UDP-glucuronosyltransferase 2A1 (UGT2A1) expression: in situ mRNA localization and quantitative analysis. (PubMed id 11376859)1 Heydel J....Goudonnet H. (2001)
- Polymorphic gene regulation and interindividual variation of UDP-glucuronosyltransferase activity in human small intestine. (PubMed id 10748067)1 Strassburg C.P....Manns M.P. (2000)
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External Searches for UGT2A1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing UGT2A1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing UGT2A1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing UGT2A1 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
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About This Section
| Patent Information for UGT2A1 gene:
Search GeneIP for patents involving UGT2A1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for UGT2A1 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
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