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Aliases for UGT1A6 Gene

Aliases for UGT1A6 Gene

  • UDP Glucuronosyltransferase Family 1 Member A6 2 3 5
  • UDP Glycosyltransferase 1 Family, Polypeptide A6 2 3
  • Phenol-Metabolizing UDP-Glucuronosyltransferase 3 4
  • UDP-Glucuronosyltransferase 1-F 3 4
  • UDP-Glucuronosyltransferase 1A6 3 4
  • EC 2.4.1.17 4 61
  • UDPGT 1-6 3 4
  • UGT1-06 3 4
  • UGT-1F 3 4
  • UGT1*6 3 4
  • UGT1.6 3 4
  • UGT1F 3 4
  • UGT1 3 4
  • GNT1 3 4
  • UDP Glucuronosyltransferase 1 Family, Polypeptide A6 3
  • UDP-Glucuronosyltransferase 1 Family Polypeptide A6s 3
  • UDP-Glucuronosyltransferase 1-6 3
  • UGT1A6S 3
  • HLUGP1 3
  • UDPGT 3
  • HLUGP 3

External Ids for UGT1A6 Gene

Previous GeneCards Identifiers for UGT1A6 Gene

  • GC02U990248
  • GC02P234819
  • GC02P234882
  • GC02P234367
  • GC02P234382
  • GC02P234197
  • GC02P234208
  • GC02P234217
  • GC02P234265
  • GC02P234600
  • GC02P226400

Summaries for UGT1A6 Gene

Entrez Gene Summary for UGT1A6 Gene

  • 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 enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for UGT1A6 Gene

UGT1A6 (UDP Glucuronosyltransferase Family 1 Member A6) is a Protein Coding gene. Diseases associated with UGT1A6 include Crigler-Najjar Syndrome, Type I and Gilbert Syndrome. Among its related pathways are Porphyrin and chlorophyll metabolism and Phenytoin Pathway, Pharmacokinetics. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is UGT1A9.

UniProtKB/Swiss-Prot for UGT1A6 Gene

  • UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).

Gene Wiki entry for UGT1A6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UGT1A6 Gene

Genomics for UGT1A6 Gene

Regulatory Elements for UGT1A6 Gene

Enhancers for UGT1A6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G233745 1 ENCODE 9.8 +54.0 53978 1.0 HNRNPUL1 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 TCF12 SP5 ZHX2 UGT1A6 DNAJB3 UGT1A2P
GH02G233759 1.1 FANTOM5 ENCODE 8.7 +69.3 69296 2.5 CTCF TAF1 MAX RAD21 YY1 ZNF316 NCOR1 HNF4G FOS MAFK UGT1A6 MROH2A UGT1A1
GH02G233763 1 FANTOM5 ENCODE 9.4 +72.8 72839 1.6 NFIB TAF1 MAX HBP1 RAD21 YY1 ZFHX2 HNF4G MAFK EGR2 UGT1A4 UGT1A6 LOC100286922 DNAJB3 UGT1A1 MROH2A
GH02G233688 1 ENCODE dbSUPER 8.4 -0.6 -606 4.1 NFIB JUN ZNF140 YY1 GATA3 RCOR1 FOS MAFK NFE2L2 CEBPB USP40 UGT1A4 UGT1A6 MROH2A UGT1A7
GH02G233702 0.4 dbSUPER 10 +11.0 11028 1.2 CTCF RAD21 UGT1A6 USP40 ENSG00000224814
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UGT1A6 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the UGT1A6 gene promoter:

Genomic Location for UGT1A6 Gene

Chromosome:
2
Start:
233,691,607 bp from pter
End:
233,773,305 bp from pter
Size:
81,699 bases
Orientation:
Plus strand

Genomic View for UGT1A6 Gene

Genes around UGT1A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT1A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT1A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT1A6 Gene

Proteins for UGT1A6 Gene

  • Protein details for UGT1A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19224-UD16_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 1-6
    Protein Accession:
    P19224
    Secondary Accessions:
    • A6NKK6
    • B8K289
    • Q96TE7

    Protein attributes for UGT1A6 Gene

    Size:
    532 amino acids
    Molecular mass:
    60751 Da
    Quaternary structure:
    • Isoform 1 interacts with isoform 3/i2 suggesting that oligomerization is involved in negative regulation of transferase activity by isoform 3. Isoform 1 also interacts with respective i2 isoforms of UGT1A1, UGT1A3, UGT1A4, UGT1A7, UGT1A8, UGT1A9 and UGT1A10.
    Miscellaneous:
    • The gene is part of the UGT1A complex locus which displays alternative use of promoters, first exons and terminal exons. The locus is defined by 13 first exons, which are alternatively spliced to 3 other common exons and 2 alternative terminal exons 5. From the 27 possible mRNA isoforms, 9 produce functionally active polypeptides (UGT1A1, 1A3, 1A4, 1A5, 1A6, 1A7, 1A8, 1A9 and 1A10) called isoforms 1 (i1). Use of an alternative exon 5 (5b) as terminal exon is leading to 9 additional alternatively spliced products termed isoforms i2 and which lack transferase activity.
    SequenceCaution:
    • Sequence=BM924331; Type=Erroneous termination; Positions=420; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=BM924331; Type=Frameshift; Positions=451, 463; Evidence={ECO:0000305}; Sequence=BM924331; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for UGT1A6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGT1A6 Gene

Selected DME Specific Peptides for UGT1A6 Gene

P19224:
  • YLFRGFPCSLEH
  • NTILVKWLPQNDL
  • PQNDLLGHP
  • AAHDLTW
  • PRPVMPN
  • MPNMVFIGGINC
  • PLFGDQMDNAKR
  • NALKAVIN
  • GAGVTLNVLEMT
  • DVIGFLL
  • GKKGRVKKAHKSK
  • EPLDLAVFWVE
  • IADALGKIPQTVLWRYTG
  • FWVEFVM
  • GSHWLSM
  • VVFSLGSMV
  • VMRHKGA
  • KSYKENIMRLSSLHKDRP
  • QYHSLDV
  • CNGVPMV
  • HPMTRAF

Post-translational modifications for UGT1A6 Gene

  • Glycosylation at posLast=294294 and Asn346
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT1A6 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UGT1A6 (Ugt1a6a)
  • Abcam antibodies for UGT1A6

Domains & Families for UGT1A6 Gene

Gene Families for UGT1A6 Gene

Protein Domains for UGT1A6 Gene

Graphical View of Domain Structure for InterPro Entry

P19224

UniProtKB/Swiss-Prot:

UD16_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT1A6: view

Function for UGT1A6 Gene

Molecular function for UGT1A6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.
UniProtKB/Swiss-Prot Function:
UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).

Enzyme Numbers (IUBMB) for UGT1A6 Gene

Gene Ontology (GO) - Molecular Function for UGT1A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 NOT retinoic acid binding IDA 20308471
GO:0015020 glucuronosyltransferase activity IEA,TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
genes like me logo Genes that share ontologies with UGT1A6: view
genes like me logo Genes that share phenotypes with UGT1A6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UGT1A6 Gene

Localization for UGT1A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT1A6 Gene

Microsome. Endoplasmic reticulum membrane; Single-pass 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 UGT1A6 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for UGT1A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 17179145
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with UGT1A6: view

Pathways & Interactions for UGT1A6 Gene

genes like me logo Genes that share pathways with UGT1A6: view

Gene Ontology (GO) - Biological Process for UGT1A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process IDA 3141926
GO:0008152 metabolic process IEA --
GO:0052695 cellular glucuronidation TAS --
GO:0052697 xenobiotic glucuronidation IBA --
genes like me logo Genes that share ontologies with UGT1A6: view

No data available for SIGNOR curated interactions for UGT1A6 Gene

Drugs & Compounds for UGT1A6 Gene

(53) Drugs for UGT1A6 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Deferiprone Approved Pharma Enzyme, substrate 57
Valproic Acid Approved, Investigational Pharma Enzyme, substrate HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 327
Mycophenolate mofetil Approved, Investigational Pharma Enzyme, substrate IMPDH inhibitor 952
Mycophenolic acid Approved Pharma Enzyme, substrate 952
Acetaminophen Approved Pharma Enzyme, substrate Cyclooxygenase inhibitor; may be selective for COX-3 1026

(146) Additional Compounds for UGT1A6 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)
  • (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronoside)
  • (23S)-23,25-dihydroxy-24-oxocholecalciferol 23-(beta-glucuronide)
  • (23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide)
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-D-glucuronide
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-delta-glucuronide
(3a,5b)-24-oxo-24-[(2-sulfoethyl)amino]cholan-3-yl-b-D-Glucopyranosiduronic acid
  • (3a,5b)-24-oxo-24-[(2-sulfoethyl)amino]cholan-3-yl-b-D-Glucopyranosiduronate
  • (3a,5b)-24-oxo-24-[(2-sulfoethyl)amino]cholan-3-yl-beta-delta-Glucopyranosiduronate
  • Taurolithocholic acid 3-glucuronide
99794-82-8
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • Chenodeoxycholic acid 3-glucuronide
  • Chenodeoxycholic acid-3-b-D-glucuronide
  • Chenodeoxycholic acid-3-beta-delta-glucuronide
58814-71-4
(3a,5b,7a,12a)-24-[(carboxymethyl)amino]-1,12-dihydroxy-24-oxocholan-3-yl-b-D-Glucopyranosiduronic acid
  • Glycocholic acid 3-glucuronide
99794-78-2
1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid
  • (2S,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[2-[4-(2-methylpropyl)phenyl]propanoyloxy]oxane-2-carboxylic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) b-D-Glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) b-delta-Glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) beta-D-Glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) beta-delta-Glucopyranuronic acid
115075-59-7
genes like me logo Genes that share compounds with UGT1A6: view

Transcripts for UGT1A6 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UGT1A6 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1: - - - - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: -
SP8:
SP9: - - - - -
SP10: - - - - - - - -
SP11: -

Relevant External Links for UGT1A6 Gene

GeneLoc Exon Structure for
UGT1A6
ECgene alternative splicing isoforms for
UGT1A6

Expression for UGT1A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UGT1A6 Gene

mRNA differential expression in normal tissues according to GTEx for UGT1A6 Gene

This gene is overexpressed in Liver (x13.5), Kidney - Cortex (x11.0), Bladder (x10.2), and Testis (x8.1).

Protein differential expression in normal tissues from HIPED for UGT1A6 Gene

This gene is overexpressed in Gallbladder (40.5) and Liver (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UGT1A6 Gene



Protein tissue co-expression partners for UGT1A6 Gene

NURSA nuclear receptor signaling pathways regulating expression of UGT1A6 Gene:

UGT1A6

mRNA Expression by UniProt/SwissProt for UGT1A6 Gene:

P19224-UD16_HUMAN
Tissue specificity: Expressed in skin. Isoforms 1 and 3 are expressed in kidney and liver. Isoform 1 but not isoform 2 is expressed in colon, esophagus and small intestine.

Evidence on tissue expression from TISSUES for UGT1A6 Gene

  • Liver(4.6)
  • Intestine(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with UGT1A6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT1A6 Gene

Orthologs for UGT1A6 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT1A6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UGT1A6 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia UGT1A6 34 35
  • 83.9 (n)
rat
(Rattus norvegicus)
Mammalia Ugt1a6 34
  • 81.7 (n)
mouse
(Mus musculus)
Mammalia Ugt1a6a 34 35
  • 81.48 (n)
Ugt1a6b 16 35
  • 74 (a)
cow
(Bos Taurus)
Mammalia UGT1A6 34
  • 80.03 (n)
lizard
(Anolis carolinensis)
Reptilia UGT1A6 35
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ugt1a7 35
  • 50 (a)
ManyToMany
ugt1b1 35
  • 47 (a)
ManyToMany
ugt1b2 35
  • 47 (a)
ManyToMany
ugt1b4 35
  • 47 (a)
ManyToMany
ugt1b3 35
  • 46 (a)
ManyToMany
ugt1b5 35
  • 46 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11289 36
  • 35 (a)
Ugt86Dc 36
  • 32 (a)
Ugt37c1 36
  • 31 (a)
CG10178 36
  • 30 (a)
Ugt36Bc 36
  • 30 (a)
Ugt36Ba 36
  • 29 (a)
Dot 36
  • 26 (a)
CG5724 36
  • 24 (a)
worm
(Caenorhabditis elegans)
Secernentea F35H8.6 36
  • 29 (a)
F56B3.7 36
  • 29 (a)
C35A5.2 36
  • 28 (a)
C17G1.3 36
  • 27 (a)
T25B9.7 36
  • 27 (a)
T03D3.1 36
  • 26 (a)
AC3.2 36
  • 25 (a)
C08F11.8 36
  • 25 (a)
C10H11.5 36
  • 25 (a)
C33A12.6 36
  • 25 (a)
F10D2.5 36
  • 25 (a)
R04B5.9 36
  • 25 (a)
ZC443.5 36
  • 25 (a)
AC3.7 36
  • 24 (a)
C03A7.11 36
  • 24 (a)
F09G2.6 36
  • 24 (a)
AC3.8 36
  • 23 (a)
C10H11.4 36
  • 23 (a)
C10H11.6 36
  • 23 (a)
K08B4.4 36
  • 23 (a)
T01G5.2 36
  • 23 (a)
C49A9.8 36
  • 22 (a)
F01D4.2 36
  • 22 (a)
Species where no ortholog for UGT1A6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 UGT1A6 Gene

ENSEMBL:
Gene Tree for UGT1A6 (if available)
TreeFam:
Gene Tree for UGT1A6 (if available)

Paralogs for UGT1A6 Gene

Variants for UGT1A6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for UGT1A6 Gene

UD16_HUMAN-P19224
Polymorphisms in the UGT1A6 gene define four common haplotypes: UGT1A6*1, UGT1A6*2, UGT1A6*3 and UGT1A6*4. Liver tissue samples that were homozygous for UGT1A6*2 exhibited a high rate of glucuronidation relative to tissues with other genotypes. Biochemical kinetic studies indicate that the UGT1A6*2 allozyme, expressed homozygously, had almost two-fold greater activity toward p-nitrophenol than UGT1A6*1 and when expressed heterozygously (UGT1A6*1/*2) it is associated with low enzyme activity. Common genetic variation in UGT1A6 confers functionally significant differences in biochemical phenotype. This genetic variation might impact clinical efficacy or toxicity of drugs metabolized by UGT1A6.

Sequence variations from dbSNP and Humsavar for UGT1A6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs2011425 drug-response 233,718,962(+) AGGCC(A/G/T)TGCGG intron-variant, reference, missense
rs887829 drug-response 233,759,924(-) TTCCA(A/G)AAATT intron-variant, upstream-variant-2KB
rs111033539 Pathogenic 233,767,160(+) TCCCT(C/T)AGACA reference, stop-gained
rs111033541 Pathogenic 233,760,331(+) GGGCC(G/T)GCTGC intron-variant, reference, missense
rs281865418 Pathogenic 233,761,127(+) AACTG(A/C/G)CTTCA intron-variant, reference, missense, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for UGT1A6 Gene

Variant ID Type Subtype PubMed ID
dgv769e199 CNV deletion 23128226
esv2422005 CNV deletion 20811451
esv25622 CNV loss 19812545
esv2661542 CNV deletion 23128226
esv2721667 CNV deletion 23290073
esv2721668 CNV deletion 23290073
esv2721669 CNV deletion 23290073
esv2760613 CNV loss 21179565
esv2760615 CNV loss 21179565
esv3561178 CNV deletion 23714750
esv3594679 CNV loss 21293372
esv3594680 CNV loss 21293372
esv3594681 CNV gain 21293372
esv3594682 CNV loss 21293372
esv8142 CNV loss 19470904
nsv1010936 CNV loss 25217958
nsv1013712 CNV loss 25217958
nsv1126580 CNV deletion 24896259
nsv1138902 CNV deletion 24896259
nsv3215 CNV deletion 18451855
nsv433211 CNV loss 18776910
nsv498958 CNV loss 21111241
nsv514125 CNV loss 21397061
nsv519815 CNV loss 19592680
nsv584705 CNV loss 21841781
nsv961573 CNV duplication 23825009
nsv961574 CNV duplication 23825009
nsv963781 CNV duplication 23825009
nsv963782 CNV duplication 23825009
nsv979186 CNV duplication 23825009
nsv979187 CNV duplication 23825009

Variation tolerance for UGT1A6 Gene

Residual Variation Intolerance Score: 47.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.78; 86.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UGT1A6 Gene

Human Gene Mutation Database (HGMD)
UGT1A6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT1A6

Disorders for UGT1A6 Gene

MalaCards: The human disease database

(13) MalaCards diseases for UGT1A6 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
crigler-najjar syndrome, type i
  • crigler-najjar syndrome
gilbert syndrome
  • constitutional hyperbilirubinemia
crigler-najjar syndrome, type ii
  • crigler najjar syndrome, type 2
cholelithiasis
pigmentation disease
  • pigmentation disorders
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for UGT1A6

Genetic Association Database (GAD)
UGT1A6
Human Genome Epidemiology (HuGE) Navigator
UGT1A6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UGT1A6
genes like me logo Genes that share disorders with UGT1A6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGT1A6 Gene

Publications for UGT1A6 Gene

  1. Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population. (PMID: 19204906) Menard V. … Guillemette C. (Hum. Mutat. 2009) 3 4 22 46 64
  2. Human UGT1A6 pharmacogenetics: identification of a novel SNP, characterization of allele frequencies and functional analysis of recombinant allozymes in human liver tissue and in cultured cells. (PMID: 15284531) Nagar S. … Blanchard R.L. (Pharmacogenetics 2004) 3 4 22 46 64
  3. Genetic polymorphisms in phase I and phase II enzymes and breast cancer risk associated with menopausal hormone therapy in postmenopausal women. (PMID: 19424794) (Breast Cancer Res. Treat. 2010) 3 22 46 64
  4. Effect of genetic polymorphisms in UDP-glucuronosyltransferase 1A6 (UGT1A6) on acetylsalicylic acid metabolism in healthy female volunteers. (PMID: 19262071) van Oijen M.G. … Jansen J.B. (Pharmacology 2009) 3 22 46 64
  5. Characterizing the effects of common UDP glucuronosyltransferase (UGT) 1A6 and UGT1A1 polymorphisms on cis- and trans-resveratrol glucuronidation. (PMID: 19406951) Iwuchukwu O.F. … Nagar S. (Drug Metab. Dispos. 2009) 3 22 46 64

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