Aliases for UGT3A1 Gene

Aliases for UGT3A1 Gene

  • UDP Glycosyltransferase Family 3 Member A1 2 3 5
  • UDP Glycosyltransferase 3 Family, Polypeptide A1 2 3
  • UDP-Glucuronosyltransferase 3A1 3 4
  • EC 2.4.1.17 4 50
  • UDPGT 3A1 3 4
  • FLJ34658 2
  • EC 2.4.1 50
  • UGT3A1 5

External Ids for UGT3A1 Gene

Previous GeneCards Identifiers for UGT3A1 Gene

  • GC05M035989
  • GC05M035903

Summaries for UGT3A1 Gene

GeneCards Summary for UGT3A1 Gene

UGT3A1 (UDP Glycosyltransferase Family 3 Member A1) is a Protein Coding gene. Diseases associated with UGT3A1 include Bile Acid Synthesis Defect, Congenital, 3 and Niemann-Pick Disease, Type B. Among its related pathways are Cytochrome P450 - arranged by substrate type and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and glucuronosyltransferase activity. An important paralog of this gene is UGT3A2.

UniProtKB/Swiss-Prot Summary for UGT3A1 Gene

  • UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UGT3A1 Gene

Genomics for UGT3A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UGT3A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J035990 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 250.4 +10.1 10122 3.1 POLR2A YY1 RXRA ZBTB33 JUND HNF4A TAF1 RAD21 REST MAX lnc-CAPSL-2 UGT3A1 piR-31885-010 HSALNG0041166 CAPSL
GH05J036066 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 -65.3 -65346 1.6 ZNF600 ZNF580 ZNF223 ZIC2 POLR2A ZNF341 SIN3A SP2 YY1 ZBTB48 UGT3A2 piR-41195-006 LMBRD2 lnc-UGT3A2-1 HSALNG0041171 UGT3A1
GH05J036229 Enhancer 0.2 FANTOM5 1.6 -228.8 -228759 0.1 RANBP3L NADK2 UGT3A1 NADK2-AS1 SKP2
GH05J036003 Enhancer 0.7 Ensembl ENCODE 0.4 -5.7 -5747 5.9 HNF4A SP1 ZNF140 TCF7 HNF4G GABPA CBX5 SKP2 NIPBL ENSG00000248969 UGT3A2 UGT3A1 HSALNG0041167 HSALNG0041171
GH05J036016 Enhancer 0.5 ENCODE 0.4 -16.5 -16486 1.9 RAD51 RXRA HNF4A TOE1 SP1 HNF4G UGT3A1 HSALNG0041171 UGT3A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UGT3A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UGT3A1

Top Transcription factor binding sites by QIAGEN in the UGT3A1 gene promoter:
  • IRF-7A

Genomic Locations for UGT3A1 Gene

Latest Assembly
chr5:35,951,006-36,001,055
(GRCh38/hg38)
Size:
50,050 bases
Orientation:
Minus strand

Previous Assembly
chr5:35,951,108-36,001,124
(GRCh37/hg19 by Entrez Gene)
Size:
50,017 bases
Orientation:
Minus strand

chr5:35,951,112-36,001,130
(GRCh37/hg19 by Ensembl)
Size:
50,019 bases
Orientation:
Minus strand

Genomic View for UGT3A1 Gene

Genes around UGT3A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT3A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT3A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT3A1 Gene

Proteins for UGT3A1 Gene

  • Protein details for UGT3A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NUS8-UD3A1_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 3A1
    Protein Accession:
    Q6NUS8
    Secondary Accessions:
    • G5E961
    • Q8IYS9
    • Q8NAW4
    • Q96DM6

    Protein attributes for UGT3A1 Gene

    Size:
    523 amino acids
    Molecular mass:
    59151 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for UGT3A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGT3A1 Gene

Selected DME Specific Peptides for UGT3A1 Gene

Q6NUS8:
  • AFAHLPQGV
  • PAQRLVG

Post-translational modifications for UGT3A1 Gene

  • Glycosylation at Asn52
  • Modification sites at PhosphoSitePlus

Domains & Families for UGT3A1 Gene

Gene Families for UGT3A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for UGT3A1 Gene

InterPro:
Blocks:
  • UDP-glucoronosyl/UDP-glucosyl transferase

Suggested Antigen Peptide Sequences for UGT3A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79500, highly similar to Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), mRNA (A8K444_HUMAN)
  • cDNA FLJ56837, highly similar to Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), mRNA (B7Z8Q8_HUMAN)
  • UGT3A1 protein (Q8IYS9_HUMAN)
  • UDP-glucuronosyltransferase 3A1 (UD3A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NUS8

UniProtKB/Swiss-Prot:

UD3A1_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT3A1: view

Function for UGT3A1 Gene

Molecular function for UGT3A1 Gene

UniProtKB/Swiss-Prot Function:
UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + H(+) + UDP; Xref=Rhea:RHEA:21032, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132367, ChEBI:CHEBI:132368; EC=2.4.1.17;.

Enzyme Numbers (IUBMB) for UGT3A1 Gene

Phenotypes From GWAS Catalog for UGT3A1 Gene

Gene Ontology (GO) - Molecular Function for UGT3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008194 UDP-glycosyltransferase activity IDA 22621930
GO:0015020 glucuronosyltransferase activity IDA 22621930
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with UGT3A1: view
genes like me logo Genes that share phenotypes with UGT3A1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT3A1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UGT3A1 Gene

Localization for UGT3A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT3A1 Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UGT3A1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UGT3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
GO:0043541 UDP-N-acetylglucosamine transferase complex IDA 22621930
genes like me logo Genes that share ontologies with UGT3A1: view

Pathways & Interactions for UGT3A1 Gene

genes like me logo Genes that share pathways with UGT3A1: view

Pathways by source for UGT3A1 Gene

Interacting Proteins for UGT3A1 Gene

Gene Ontology (GO) - Biological Process for UGT3A1 Gene

None

No data available for SIGNOR curated interactions for UGT3A1 Gene

Drugs & Compounds for UGT3A1 Gene

(4) Drugs for UGT3A1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Kaempferol Experimental Pharma Target Apoptosis inducer;antioxidant;flavonoid 0
Quercetin Experimental, Investigational Pharma Target Antitumor agent, Non-selective PI 3-kinase inhibitor 68
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with UGT3A1: view

Transcripts for UGT3A1 Gene

mRNA/cDNA for UGT3A1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT3A1

Alternative Splicing Database (ASD) splice patterns (SP) for UGT3A1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
SP1: -
SP2: - - - -
SP3:

Relevant External Links for UGT3A1 Gene

GeneLoc Exon Structure for
UGT3A1

Expression for UGT3A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UGT3A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UGT3A1 Gene

This gene is overexpressed in Liver (x20.4), Kidney - Cortex (x19.3), and Testis (x8.6).

Protein differential expression in normal tissues from HIPED for UGT3A1 Gene

This gene is overexpressed in Kidney (29.2), Fetal gut (27.7), and Testis (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for UGT3A1 Gene



Protein tissue co-expression partners for UGT3A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UGT3A1

SOURCE GeneReport for Unigene cluster for UGT3A1 Gene:

Hs.254699

Evidence on tissue expression from TISSUES for UGT3A1 Gene

  • Kidney(4.5)
  • Intestine(4.3)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with UGT3A1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT3A1 Gene

Orthologs for UGT3A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT3A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UGT3A1 29 30
  • 98.09 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UGT3A1 29 30
  • 79.29 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ugt3a2 29
  • 74.72 (n)
Mouse
(Mus musculus)
Mammalia Ugt3a2 29 16 30
  • 74.6 (n)
ManyToMany
Ugt3a1 16 30
  • 64 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 71 (a)
ManyToMany
-- 30
  • 68 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 56 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 23 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 28 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 48 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii ugt5b4 30
  • 26 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Ugt37c1 30
  • 27 (a)
ManyToMany
Ugt35b 30
  • 26 (a)
ManyToMany
CG15661 30
  • 26 (a)
ManyToMany
CG10178 30
  • 26 (a)
ManyToMany
Ugt36Ba 30
  • 26 (a)
ManyToMany
CG4302 30
  • 25 (a)
ManyToMany
Ugt36Bb 30
  • 25 (a)
ManyToMany
Ugt37b1 30
  • 25 (a)
ManyToMany
CG11289 30
  • 24 (a)
ManyToMany
Ugt86Dc 30
  • 24 (a)
ManyToMany
CG6475 30
  • 24 (a)
ManyToMany
Ugt86Dg 30
  • 24 (a)
ManyToMany
CG17324 30
  • 24 (a)
ManyToMany
Ugt86Dd 30
  • 24 (a)
ManyToMany
CG17323 30
  • 24 (a)
ManyToMany
CG5724 30
  • 24 (a)
ManyToMany
Ugt86De 30
  • 23 (a)
ManyToMany
Ugt86Da 30
  • 23 (a)
ManyToMany
Ugt35a 30
  • 23 (a)
ManyToMany
Ugt36Bc 30
  • 23 (a)
ManyToMany
CG17322 30
  • 23 (a)
ManyToMany
CG30438 30
  • 23 (a)
ManyToMany
Ugt86Di 30
  • 23 (a)
ManyToMany
Ugt37a1 30
  • 23 (a)
ManyToMany
CG31002 30
  • 22 (a)
ManyToMany
CG5999 30
  • 22 (a)
ManyToMany
CG16732 30
  • 22 (a)
ManyToMany
Ugt86Dh 30
  • 21 (a)
ManyToMany
CG10168 30
  • 21 (a)
ManyToMany
CG10170 30
  • 20 (a)
ManyToMany
Dot 30
  • 19 (a)
ManyToMany
Ugt86Dj 30
  • 19 (a)
ManyToMany
CG3797 30
  • 19 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea ugt-58 30
  • 23 (a)
OneToMany
Species where no ortholog for UGT3A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for UGT3A1 Gene

ENSEMBL:
Gene Tree for UGT3A1 (if available)
TreeFam:
Gene Tree for UGT3A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UGT3A1: view image
Alliance of Genome Resources:
Additional Orthologs for UGT3A1

Paralogs for UGT3A1 Gene

(27) SIMAP similar genes for UGT3A1 Gene using alignment to 5 proteins:

  • UD3A1_HUMAN
  • A8K444_HUMAN
  • B7Z8Q8_HUMAN
  • D6RHV6_HUMAN
  • E9PD17_HUMAN

Pseudogenes.org Pseudogenes for UGT3A1 Gene

genes like me logo Genes that share paralogs with UGT3A1: view

Variants for UGT3A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UGT3A1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs3756669 -- p.Cys121Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UGT3A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UGT3A1 Gene

Variant ID Type Subtype PubMed ID
esv3604707 CNV gain 21293372
nsv471011 CNV gain 18288195
nsv483069 CNV gain 15286789
nsv830261 CNV gain 17160897

Variation tolerance for UGT3A1 Gene

Residual Variation Intolerance Score: 86.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.87; 87.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT3A1 Gene

Human Gene Mutation Database (HGMD)
UGT3A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT3A1
Leiden Open Variation Database (LOVD)
UGT3A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGT3A1 Gene

Disorders for UGT3A1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for UGT3A1 Gene - From: COP

Disorder Aliases PubMed IDs
bile acid synthesis defect, congenital, 3
  • cbas3
niemann-pick disease, type b
  • acid sphingomyelinase deficiency, visceral type
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UGT3A1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with UGT3A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGT3A1 Gene

Publications for UGT3A1 Gene

  1. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 40
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  5. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin SY … Soranzo N (Nature genetics 2014) 3

Products for UGT3A1 Gene

Sources for UGT3A1 Gene