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Aliases for UGT1A9 Gene

Aliases for UGT1A9 Gene

  • UDP Glucuronosyltransferase Family 1 Member A9 2 3 5
  • UDP Glycosyltransferase 1 Family, Polypeptide A9 2 3
  • UDP-Glucuronosyltransferase 1-I 3 4
  • UDP-Glucuronosyltransferase 1A9 3 4
  • UDPGT 1-9 3 4
  • UGT1-09 3 4
  • UGT-1I 3 4
  • UGT1.9 3 4
  • UGT1I 3 4
  • UDP Glucuronosyltransferase 1 Family, Polypeptide A9 3
  • UDP-Glucuronosyltransferase 1 Family Polypeptide A9s 3
  • UDP-Glucuronosyltransferase 1-9 3
  • EC 2.4.1.17 4
  • UGT1A9S 3
  • HLUGP4 3
  • UGT1-9 3
  • UGT1AI 3
  • UGT1*9 4
  • LUGP4 3
  • UDPGT 3
  • LugP4 4
  • GNT1 4
  • UGT1 4

External Ids for UGT1A9 Gene

Previous GeneCards Identifiers for UGT1A9 Gene

  • GC02U990251
  • GC02P234822
  • GC02P234885
  • GC02P234369
  • GC02P234370
  • GC02P234200
  • GC02P234210
  • GC02P234220
  • GC02P234245
  • GC02P234580
  • GC02P226380

Summaries for UGT1A9 Gene

Entrez Gene Summary for UGT1A9 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 phenols. [provided by RefSeq, Jul 2008]

GeneCards Summary for UGT1A9 Gene

UGT1A9 (UDP Glucuronosyltransferase Family 1 Member A9) is a Protein Coding gene. Diseases associated with UGT1A9 include Crigler-Najjar Syndrome, Type Ii and Gilbert Syndrome. Among its related pathways are Drug metabolism - cytochrome P450 and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is UGT1A7.

UniProtKB/Swiss-Prot for UGT1A9 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 2 lacks transferase activity but acts as a negative regulator of isoform 1.

Gene Wiki entry for UGT1A9 Gene

Additional gene information for UGT1A9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UGT1A9 Gene

Genomics for UGT1A9 Gene

GeneHancer (GH) Regulatory Elements for UGT1A9 Gene

Promoters and enhancers for UGT1A9 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
GH02J233671 Promoter 0.9 EPDnew 650.7 +0.0 26 0.1 TAF1 RXRA MAX REST RAD21 YY1 SP1 JUND ATF3 HNF4G UGT1A9 UGT1A7 UGT1A10 UGT1A8 UGT1A
GH02J233688 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 0.4 +19.1 19148 4.1 NFIB JUN YY1 GATA3 RCOR1 FOSL2 FOS NFE2L2 SMARCE1 RXRA UGT1A6 UGT1A1 USP40 UGT1A4 MROH2A UGT1A7 UGT1A9 UGT1A10 UGT1A8 UGT1A
GH02J233699 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.3 +28.2 28169 1.7 FOXA2 ARNT FEZF1 YY1 ZNF766 RXRA NCOA1 REST ZNF592 ATF4 ENSG00000224814 UGT1A6 UGT1A7 UGT1A9 UGT1A10 UGT1A8 UGT1A
GH02J233705 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 0.3 +34.7 34689 1.5 FOXA2 TAF1 MAX RAD21 YY1 GATA3 EGR1 HNF4G MAFK RXRA RPL17P11 ENSG00000224814 UGT1A6 UGT1A7 UGT1A9 UGT1A10 UGT1A8 UGT1A
GH02J233745 Promoter/Enhancer 1.5 EPDnew ENCODE 0.2 +73.7 73732 1 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 TCF12 ATF7 NFKBIZ RXRA DNAJB3 LOC100286922 UGT1A2P UGT1A1 UGT1A6 UGT1A3 UGT1A4 UGT1A5 UGT1A7 UGT1A9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UGT1A9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UGT1A9 gene promoter:

Genomic Locations for UGT1A9 Gene

Genomic Locations for UGT1A9 Gene
chr2:233,671,853-233,773,305
(GRCh38/hg38)
Size:
101,453 bases
Orientation:
Plus strand
chr2:234,580,499-234,681,951
(GRCh37/hg19)

Genomic View for UGT1A9 Gene

Genes around UGT1A9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT1A9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT1A9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT1A9 Gene

Proteins for UGT1A9 Gene

  • Protein details for UGT1A9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60656-UD19_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 1-9
    Protein Accession:
    O60656
    Secondary Accessions:
    • B8K285
    • P36509
    • Q9HAX0

    Protein attributes for UGT1A9 Gene

    Size:
    530 amino acids
    Molecular mass:
    59941 Da
    Quaternary structure:
    • Isoform 1 interacts with isoform 2/i2 suggesting that oligomerization is involved in negative regulation of transferase activity by isoform 2. Isoform 1 also interacts with respective i2 isoforms of UGT1A1, UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8 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=AAB19791.2; Type=Frameshift; Positions=59, 82; Evidence={ECO:0000305};

    Alternative splice isoforms for UGT1A9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGT1A9 Gene

Post-translational modifications for UGT1A9 Gene

  • Glycosylation at isoforms=2344, isoforms=2292, and posLast=7171
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT1A9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UGT1A9 Gene

Domains & Families for UGT1A9 Gene

Gene Families for UGT1A9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted membrane proteins

Protein Domains for UGT1A9 Gene

Graphical View of Domain Structure for InterPro Entry

O60656

UniProtKB/Swiss-Prot:

UD19_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT1A9: view

Function for UGT1A9 Gene

Molecular function for UGT1A9 Gene

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 2 lacks transferase activity but acts as a negative regulator of isoform 1.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.

Enzyme Numbers (IUBMB) for UGT1A9 Gene

Phenotypes From GWAS Catalog for UGT1A9 Gene

Gene Ontology (GO) - Molecular Function for UGT1A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 retinoic acid binding IDA 20308471
GO:0008194 UDP-glycosyltransferase activity IBA --
GO:0015020 glucuronosyltransferase activity IEA,IDA 18052087
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with UGT1A9: view
genes like me logo Genes that share phenotypes with UGT1A9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT1A9

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UGT1A9 Gene

Localization for UGT1A9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT1A9 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 UGT1A9 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for UGT1A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,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 IBA,IEA --
genes like me logo Genes that share ontologies with UGT1A9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UGT1A9 Gene

Pathways & Interactions for UGT1A9 Gene

genes like me logo Genes that share pathways with UGT1A9: view

Gene Ontology (GO) - Biological Process for UGT1A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process IDA 1910331
GO:0008152 metabolic process IEA --
GO:0019216 regulation of lipid metabolic process TAS --
GO:0042573 retinoic acid metabolic process IC 20308471
GO:0051552 flavone metabolic process IDA 18052087
genes like me logo Genes that share ontologies with UGT1A9: view

No data available for SIGNOR curated interactions for UGT1A9 Gene

Drugs & Compounds for UGT1A9 Gene

(100) Drugs for UGT1A9 Gene - From: DrugBank, PharmGKB, ClinicalTrials, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Propofol Approved, Investigational, Vet_approved Pharma Enzyme, substrate 1189
Irinotecan Approved, Investigational Pharma Enzyme, substrate Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1181
Mycophenolate mofetil Approved, Investigational Pharma Enzyme, substrate IMPDH inhibitor 987
Mycophenolic acid Approved Pharma Enzyme, substrate 987
Sorafenib Approved, Investigational Pharma Enzyme, substrate, inhibitor Raf kinases and tyrosine kinases inhibitor, RAF, VEGFR2, and PDGFR-beta inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 717

(144) Additional Compounds for UGT1A9 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SN38 glucuronide
  • sn-38g
  • 7-Ethyl-10-hydroxycamptothecin beta-glucuronide
  • sn 38g
  • 7-Ethyl-10-hydroxycamptothecin glucuronide
(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
genes like me logo Genes that share compounds with UGT1A9: view

Transcripts for UGT1A9 Gene

mRNA/cDNA for UGT1A9 Gene

(271) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT1A9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UGT1A9 Gene

No ASD Table

Relevant External Links for UGT1A9 Gene

GeneLoc Exon Structure for
UGT1A9
ECgene alternative splicing isoforms for
UGT1A9

Expression for UGT1A9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UGT1A9 Gene

mRNA differential expression in normal tissues according to GTEx for UGT1A9 Gene

This gene is overexpressed in Kidney - Cortex (x41.9) and Liver (x10.1).

Protein differential expression in normal tissues from HIPED for UGT1A9 Gene

This gene is overexpressed in Kidney (32.8), Liver (20.6), and Gallbladder (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for UGT1A9 Gene



Protein tissue co-expression partners for UGT1A9 Gene

NURSA nuclear receptor signaling pathways regulating expression of UGT1A9 Gene:

UGT1A9

mRNA Expression by UniProt/SwissProt for UGT1A9 Gene:

O60656-UD19_HUMAN
Tissue specificity: Liver. Isoform 1 and isoform 2 are expressed in liver, kidney, colon, esophagus and small intestine.

Evidence on tissue expression from TISSUES for UGT1A9 Gene

  • Liver(4.5)
  • Kidney(4.4)
genes like me logo Genes that share expression patterns with UGT1A9: view

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 UGT1A9 Gene

Orthologs for UGT1A9 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT1A9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UGT1A9 34
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ugt1a8 33
  • 82.09 (n)
mouse
(Mus musculus)
Mammalia Ugt1a9 16 34 33
  • 81.11 (n)
Ugt1a10 34
  • 79 (a)
ManyToMany
Ugt1a7c 34
  • 79 (a)
ManyToMany
Ugt1a8 34
  • 78 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 68 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 43 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 60 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 38 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ugt1a7 34
  • 50 (a)
ManyToMany
ugt1b1 34
  • 46 (a)
ManyToMany
ugt1b4 34
  • 46 (a)
ManyToMany
ugt1b5 34
  • 45 (a)
ManyToMany
ugt1b3 34
  • 45 (a)
ManyToMany
ugt1b2 34
  • 45 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11289 35
  • 35 (a)
Ugt86Dc 35
  • 34 (a)
Ugt86Da 35
  • 33 (a)
CG15661 35
  • 32 (a)
CG6475 35
  • 32 (a)
Ugt86Di 35
  • 32 (a)
Ugt36Bb 35
  • 30 (a)
Ugt86De 35
  • 30 (a)
Ugt37c1 35
  • 30 (a)
CG10168 35
  • 29 (a)
BEST:GH09393 35
  • 29 (a)
Ugt36Ba 35
  • 29 (a)
BEST:GH06505 35
  • 28 (a)
CG10178 35
  • 27 (a)
Ugt37a1 35
  • 27 (a)
CG5724 35
  • 27 (a)
Ugt37b1 35
  • 27 (a)
Ugt86Dh 35
  • 27 (a)
CG17323 35
  • 27 (a)
Dot 35
  • 26 (a)
CG5999 35
  • 26 (a)
CG10170 35
  • 25 (a)
CG16732 35
  • 24 (a)
worm
(Caenorhabditis elegans)
Secernentea F35H8.6 35
  • 29 (a)
M88.1 35
  • 29 (a)
F39G3.1 35
  • 29 (a)
ZC443.5 35
  • 27 (a)
Y37E11AR.5 35
  • 27 (a)
C17G1.3 35
  • 26 (a)
C08F11.8 35
  • 26 (a)
C10H11.5 35
  • 26 (a)
C08B6.1 35
  • 25 (a)
C33A12.6 35
  • 25 (a)
C10H11.4 35
  • 25 (a)
AC3.2 35
  • 25 (a)
C44H9.1 35
  • 25 (a)
F56B3.7 35
  • 25 (a)
AC3.7 35
  • 25 (a)
C10H11.6 35
  • 24 (a)
F09G2.6 35
  • 24 (a)
K08B4.4 35
  • 24 (a)
C49A9.8 35
  • 24 (a)
T01G5.2 35
  • 24 (a)
R04B5.9 35
  • 23 (a)
F01D4.1 35
  • 23 (a)
F01D4.2 35
  • 22 (a)
ZC455.3 35
  • 22 (a)
AC3.8 35
  • 21 (a)
Species where no ortholog for UGT1A9 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)
  • 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 UGT1A9 Gene

ENSEMBL:
Gene Tree for UGT1A9 (if available)
TreeFam:
Gene Tree for UGT1A9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UGT1A9: view image

Paralogs for UGT1A9 Gene

Paralogs for UGT1A9 Gene

(31) SIMAP similar genes for UGT1A9 Gene using alignment to 8 proteins:

  • UD19_HUMAN
  • A9UKF4_HUMAN
  • A9UKF7_HUMAN
  • Q330M4_HUMAN
  • Q4R0Z6_HUMAN
  • Q4R0Z7_HUMAN
  • Q53E75_HUMAN
  • Q5DSZ5_HUMAN

Pseudogenes.org Pseudogenes for UGT1A9 Gene

genes like me logo Genes that share paralogs with UGT1A9: view

Variants for UGT1A9 Gene

Sequence variations from dbSNP and Humsavar for UGT1A9 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1042640 benign, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, Gilbert's syndrome 233,772,898(+) G/C/T 3_prime_UTR_variant
rs10929303 benign, Gilbert's syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome 233,772,770(+) T/C 3_prime_UTR_variant
rs111033539 pathogenic, Crigler Najjar syndrome, type 1 233,767,160(+) C/T coding_sequence_variant, stop_gained
rs111033541 pathogenic, Crigler-Najjar syndrome, type II 233,760,331(+) T/G intron_variant
rs138183896 uncertain-significance, Lucey-Driscoll syndrome, Gilbert's syndrome, Crigler-Najjar syndrome 233,760,581(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UGT1A9 Gene

Variant ID Type Subtype PubMed ID
dgv769e199 CNV deletion 23128226
esv2422005 CNV deletion 20811451
esv25622 CNV loss 19812545
esv2661542 CNV deletion 23128226
esv2721664 CNV deletion 23290073
esv2721666 CNV deletion 23290073
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
nsv979184 CNV duplication 23825009
nsv979185 CNV duplication 23825009
nsv979186 CNV duplication 23825009
nsv979187 CNV duplication 23825009

Variation tolerance for UGT1A9 Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT1A9 Gene

Human Gene Mutation Database (HGMD)
UGT1A9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT1A9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGT1A9 Gene

Disorders for UGT1A9 Gene

MalaCards: The human disease database

(6) MalaCards diseases for UGT1A9 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
crigler-najjar syndrome, type ii
  • hyperbilirubinemia, crigler-najjar type ii; hblrcn2
gilbert syndrome
  • hyperbilirubinemia, gilbert type; hblrg
crigler-najjar syndrome, type i
  • hyperbilirubinemia, crigler-najjar type i; hblrcn1
bilirubin, serum level of, quantitative trait locus 1
  • biliqtl1
kernicterus
  • bilirubin encephalopathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UGT1A9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UGT1A9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGT1A9 Gene

Publications for UGT1A9 Gene

  1. Effect of D256N and Y483D on propofol glucuronidation by human uridine 5'-diphosphate glucuronosyltransferase (UGT1A9). (PMID: 18816295) Takahashi H … Takeuchi Y (Basic & clinical pharmacology & toxicology 2008) 3 22 25 44 58
  2. N-Glycosylation plays a role in protein folding of human UGT1A9. (PMID: 19951703) Nakajima M … Yokoi T (Biochemical pharmacology 2010) 3 4 22 58
  3. Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population. (PMID: 19204906) Ménard V … Guillemette C (Human mutation 2009) 3 4 44 58
  4. Predictive role of the UGT1A1, UGT1A7, and UGT1A9 genetic variants and their haplotypes on the outcome of metastatic colorectal cancer patients treated with fluorouracil, leucovorin, and irinotecan. (PMID: 19364970) Cecchin E … Toffoli G (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009) 3 22 44 58
  5. UGT1A9 -275T>A/-2152C>T polymorphisms correlate with low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients. (PMID: 19494809) van Schaik RH … van Gelder T (Clinical pharmacology and therapeutics 2009) 3 22 44 58

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