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 followe... See more...

Aliases for UGT1A5 Gene

Aliases for UGT1A5 Gene

  • UDP Glucuronosyltransferase Family 1 Member A5 2 3 5
  • UGT1E 2 3 4
  • UDP Glycosyltransferase 1 Family, Polypeptide A5 2 3
  • UDP-Glucuronosyltransferase 1A5 3 4
  • UDP-Glucuronosyltransferase 1-5 3 4
  • UDP-Glucuronosyltransferase 1-E 3 4
  • EC 2.4.1.17 4 50
  • UDPGT 1-5 3 4
  • UGT-1E 3 4
  • UGT1*5 3 4
  • UDP Glucuronosyltransferase 1 Family, Polypeptide A5 3
  • UDP-Glucuronosyltransferase 1 Family Polypeptide A5s 3
  • UGT1-05 4
  • UGT1A5 5
  • UGT1.5 4
  • UDPGT 3
  • GNT1 4
  • UGT1 4

External Ids for UGT1A5 Gene

Previous GeneCards Identifiers for UGT1A5 Gene

  • GC02U990249
  • GC02P234818
  • GC02P234881
  • GC02P234366
  • GC02P234403
  • GC02P234196
  • GC02P234206
  • GC02P234216
  • GC02P234286
  • GC02P234621
  • GC02P226422

Summaries for UGT1A5 Gene

Entrez Gene Summary for UGT1A5 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for UGT1A5 Gene

UGT1A5 (UDP Glucuronosyltransferase Family 1 Member A5) is a Protein Coding gene. Diseases associated with UGT1A5 include Bilirubin, Serum Level Of, Quantitative Trait Locus 1 and Hyperbilirubinemia, Transient Familial Neonatal. 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 carbohydrate binding and glucuronosyltransferase activity. An important paralog of this gene is UGT1A3.

UniProtKB/Swiss-Prot Summary for UGT1A5 Gene

  • [Isoform 1]: UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:18674515). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:18674515). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist zolarsatan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515).
  • [Isoform 2]: Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1.

Gene Wiki entry for UGT1A5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UGT1A5 Gene

Genomics for UGT1A5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UGT1A5 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
GH02J233711 Enhancer 0.7 Ensembl 250.7 -1.4 -1406 0.6 ZNF654 REST TRIM22 CTCF RXRA RAD21 SMC3 MIER3 MBD1 HNF4A UGT1A5 USP40 ENSG00000224814 UGT1A6 UGT1A7 UGT1A9 UGT1A10 UGT1A8 UGT1A
GH02J233712 Promoter 0.3 EPDnew 250.7 +0.0 39 0.1 UGT1A5 UGT1A4 UGT1A6 UGT1A7 UGT1A9 UGT1A10 UGT1A8 UGT1A
GH02J233705 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 0.4 -5.9 -5906 3.6 ATF3 YY1 CEBPB FOXA2 RXRA ZBTB33 JUND HNF4A FOXA1 RAD21 ENSG00000224814 MROH2A RPL17P11 USP40 UGT1A5 UGT1A6 UGT1A7 UGT1A9 UGT1A10 UGT1A8
GH02J233699 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 -12.9 -12885 1.7 NCOR1 ZNF592 ATF3 NFIC YY1 CEBPB HES1 BHLHE40 FEZF1 MAX ENSG00000224814 UGT1A6 UGT1A5 UGT1A7 UGT1A9 UGT1A10 UGT1A8 UGT1A
GH02J233745 Promoter/Enhancer 1.3 EPDnew ENCODE 0.3 +32.7 32678 1 CEBPA ATF3 YY1 FOXA1 HOMEZ THAP11 FOXA2 KDM6A SMAD4 RXRA DNAJB3 UGT1A2P UGT1A1 UGT1A6 UGT1A3 UGT1A4 UGT1A5 UGT1A7 UGT1A9 UGT1A10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UGT1A5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UGT1A5

Top Transcription factor binding sites by QIAGEN in the UGT1A5 gene promoter:
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2

Genomic Locations for UGT1A5 Gene

Latest Assembly
chr2:233,712,907-233,773,300
(GRCh38/hg38)
Size:
60,394 bases
Orientation:
Plus strand

Previous Assembly
chr2:234,621,553-234,681,946
(GRCh37/hg19 by Entrez Gene)
Size:
60,394 bases
Orientation:
Plus strand

chr2:234,621,638-234,681,945
(GRCh37/hg19 by Ensembl)
Size:
60,308 bases
Orientation:
Plus strand

Genomic View for UGT1A5 Gene

Genes around UGT1A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT1A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT1A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT1A5 Gene

Proteins for UGT1A5 Gene

  • Protein details for UGT1A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35504-UD15_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 1A5
    Protein Accession:
    P35504
    Secondary Accessions:
    • B8K294

    Protein attributes for UGT1A5 Gene

    Size:
    534 amino acids
    Molecular mass:
    60071 Da
    Quaternary structure:
    • Homodimer (By similarity). Homooligomer (By similarity). Interacts with UGT1A1, UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10 to form heterodimers (By similarity). 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, UGT1A9 and UGT1A10 (By similarity).
    Miscellaneous:
    • UGT1A5 isoform 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.

    Alternative splice isoforms for UGT1A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGT1A5 Gene

Selected DME Specific Peptides for UGT1A5 Gene

P35504:
  • NTILVKWLPQNDL
  • PQNDLLGHP
  • AAHDLTW
  • MPNMVFIGGINC
  • PLFGDQMDNAKR
  • NALKAVIN
  • GAGVTLNVLEMT
  • DVIGFLL
  • DYPRPIMPNMVF
  • GKKGRVKKAHKSK
  • EPLDLAVFWVE
  • IADALGKIPQTVLWRYTG
  • FWVEFVM
  • GSHWLSM
  • VVFSLGSMV
  • VMRHKGA
  • KSYKENIMRLSSLHKDRP
  • QYHSLDV
  • CNGVPMV
  • HPMTRAF
  • PYASLASELFQREVS

Post-translational modifications for UGT1A5 Gene

  • Glycosylation at Asn119, Asn296, and Asn348
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for UGT1A5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for UGT1A5 Gene

Gene Families for UGT1A5 Gene

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

Protein Domains for UGT1A5 Gene

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

Suggested Antigen Peptide Sequences for UGT1A5 Gene

GenScript: Design optimal peptide antigens:
  • UDP-glucuronosyltransferase 1 family polypeptide A5s (B8K294_HUMAN)
  • UDP-glucuronosyltransferase 1A5 (F5HPU6_HUMAN)
  • UDP-glucuronosyltransferase 1A5 (F5HPU8_HUMAN)
  • UDP glycosyltransferase 1 family polypeptide A5 (Q5DSZ9_HUMAN)
  • UDP-glucuronosyltransferase (Q5QTD9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35504

UniProtKB/Swiss-Prot:

UD15_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT1A5: view

Function for UGT1A5 Gene

Molecular function for UGT1A5 Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:18674515). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:18674515). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist zolarsatan, a drug which can inhibit the effect of angiotensin II (PubMed:18674515).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Lacks UGT glucuronidation activity but acts as a negative regulator of isoform 1.
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; Evidence={ECO:0000269|PubMed:18674515};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=UDP-alpha-D-glucuronate + zolasartan = UDP + zolarsartan-1-N-beta-D-glucuronide; Xref=Rhea:RHEA:63744, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:149524, ChEBI:CHEBI:149527; Evidence={ECO:0000269|PubMed:18674515};.

Enzyme Numbers (IUBMB) for UGT1A5 Gene

Phenotypes From GWAS Catalog for UGT1A5 Gene

Gene Ontology (GO) - Molecular Function for UGT1A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008194 UDP-glycosyltransferase activity IEA --
GO:0015020 glucuronosyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with UGT1A5: view
genes like me logo Genes that share phenotypes with UGT1A5: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT1A5

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UGT1A5 Gene

Localization for UGT1A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT1A5 Gene

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 UGT1A5 gene
Compartment Confidence
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for UGT1A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UGT1A5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UGT1A5 Gene

Pathways & Interactions for UGT1A5 Gene

genes like me logo Genes that share pathways with UGT1A5: view

Pathways by source for UGT1A5 Gene

Interacting Proteins for UGT1A5 Gene

Gene Ontology (GO) - Biological Process for UGT1A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0052696 flavonoid glucuronidation IBA 21873635
GO:0052697 xenobiotic glucuronidation IBA 21873635
genes like me logo Genes that share ontologies with UGT1A5: view

No data available for SIGNOR curated interactions for UGT1A5 Gene

Drugs & Compounds for UGT1A5 Gene

(22) Drugs for UGT1A5 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Allopurinol Approved Pharma 182
Febuxostat Approved Pharma Xanthine oxidase inhibitor 79
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1884
Risperidone Approved, Investigational Pharma SR-2A inhibitor 545
Valproic acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 387

(76) Additional Compounds for UGT1A5 Gene - From: HMDB

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-(b-glucuronide)
  • (23S)-23,25-Dihdroxy-24-oxovitamine D3 23-(β-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)
11-Hydroxyprogesterone 11-glucuronide
  • 11-HPG
  • 11-Hydroxyprogesterone 11-glucuronoside
  • 11alpha-Glucuronylprogesterone
  • 11alpha-Hydroxyprogesterone 11-glucuronide
  • 11alpha-Hydroxyprogesterone 11-glucuronoside
77710-64-6
15-Hydroxynorandrostene-3,17-dione glucuronide
  • 15-HNADG
  • 15-Hydroxynorandrostene-3,17-dione glucuronoside
  • 15alpha-Hydroxynorandrost-4-ene-3,17-dione glucuronide
  • 15alpha-Hydroxynorandrost-4-ene-3,17-dione glucuronoside
  • Androst-4-ene-3,17-dione, 15-hydroxy glucuronide
131749-23-0
17-alpha-Estradiol-3-glucuronide
  • 17-a-Estradiol-3-glucuronide
  • 17-Α-estradiol-3-glucuronide
17-beta-Estradiol glucuronide
  • 17-b-Estradiol glucuronide
  • 17-Β-estradiol glucuronide
  • beta-Estradiol 17-beta-D-glucuronide
  • e(2)17g CPD
  • Estradiol-17 beta-glucuronide, monosodium salt
genes like me logo Genes that share compounds with UGT1A5: view

Transcripts for UGT1A5 Gene

mRNA/cDNA for UGT1A5 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 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 UGT1A5

Alternative Splicing Database (ASD) splice patterns (SP) for UGT1A5 Gene

No ASD Table

Relevant External Links for UGT1A5 Gene

GeneLoc Exon Structure for
UGT1A5

Expression for UGT1A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UGT1A5 Gene

mRNA differential expression in normal tissues according to GTEx for UGT1A5 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x27.0) and Bladder (x5.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UGT1A5

mRNA Expression by UniProt/SwissProt for UGT1A5 Gene:

P35504-UD15_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed in colon and small intestine. Neither isoform is expressed in liver, kidney or esophagus.

Evidence on tissue expression from TISSUES for UGT1A5 Gene

  • Liver(2)
genes like me logo Genes that share expression patterns with UGT1A5: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT1A5 Gene

Orthologs for UGT1A5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for UGT1A5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 30
  • 95 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ugt1a3 29
  • 78.87 (n)
Mouse
(Mus musculus)
Mammalia Ugt1a5 30
  • 75 (a)
ManyToMany
Ugt1a2 30
  • 74 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 30
  • 67 (a)
ManyToMany
-- 30
  • 64 (a)
ManyToMany
-- 30
  • 63 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 60 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii ugt1a7 30
  • 50 (a)
ManyToMany
ugt1b1 30
  • 48 (a)
ManyToMany
ugt1b4 30
  • 46 (a)
ManyToMany
ugt1b5 30
  • 46 (a)
ManyToMany
ugt1b3 30
  • 46 (a)
ManyToMany
ugt1b2 30
  • 45 (a)
ManyToMany
Species where no ortholog for UGT1A5 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for UGT1A5 Gene

ENSEMBL:
Gene Tree for UGT1A5 (if available)
TreeFam:
Gene Tree for UGT1A5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UGT1A5: view image
Alliance of Genome Resources:
Additional Orthologs for UGT1A5

Paralogs for UGT1A5 Gene

(31) SIMAP similar genes for UGT1A5 Gene using alignment to 12 proteins:

  • UD15_HUMAN
  • B8K294_HUMAN
  • F5HPU6_HUMAN
  • F5HPU8_HUMAN
  • Q5DSZ9_HUMAN
  • Q5QTD9_HUMAN
  • Q5QTE0_HUMAN
  • Q5QTE1_HUMAN
  • Q5QTE2_HUMAN
  • Q5QTE3_HUMAN
  • Q5QTE4_HUMAN
  • Q5QTE5_HUMAN
genes like me logo Genes that share paralogs with UGT1A5: view

Variants for UGT1A5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UGT1A5 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
549828 Drug Response: Irinotecan response 233,760,235(+) TATATATATATATA/.
UGT1A1*1
INTRON
895439 Uncertain Significance: Gilbert's syndrome; Crigler-Najjar syndrome; Lucey-Driscoll syndrome 233,760,312(+) C/T
NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys)
MISSENSE_VARIANT,INTRON
895502 Uncertain Significance: Gilbert's syndrome; Crigler-Najjar syndrome; Lucey-Driscoll syndrome 233,760,648(+) G/C
NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro)
MISSENSE_VARIANT,INTRON
895576 Uncertain Significance: Gilbert's syndrome; Crigler-Najjar syndrome; Lucey-Driscoll syndrome 233,768,315(+) T/C
NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu)
MISSENSE
895638 Uncertain Significance: Gilbert's syndrome; Crigler-Najjar syndrome; Lucey-Driscoll syndrome 233,772,692(+) G/A
NM_000463.3(UGT1A1):c.*133G>A
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UGT1A5 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 UGT1A5 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
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 UGT1A5 Gene

Residual Variation Intolerance Score: 92.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.03; 90.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT1A5 Gene

Human Gene Mutation Database (HGMD)
UGT1A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT1A5
Leiden Open Variation Database (LOVD)
UGT1A5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGT1A5 Gene

Disorders for UGT1A5 Gene

MalaCards: The human disease database

(9) MalaCards diseases for UGT1A5 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
bilirubin, serum level of, quantitative trait locus 1
  • biliqtl1
hyperbilirubinemia, transient familial neonatal
  • hblrtfn
crigler-najjar syndrome, type ii
  • hyperbilirubinemia, crigler-najjar type ii; hblrcn2
crigler-najjar syndrome, type i
  • hyperbilirubinemia, crigler-najjar type i; hblrcn1
bilirubin metabolic disorder
  • hereditary hyperbilirubinemia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UGT1A5

Human Genome Epidemiology Navigator
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No data available for UniProtKB/Swiss-Prot and Genatlas for UGT1A5 Gene

Publications for UGT1A5 Gene

  1. A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. (PMID: 1339448) Ritter JK … Owens IS (The Journal of biological chemistry 1992) 2 3 4
  2. UGT1A1 is a major locus influencing bilirubin levels in African Americans. (PMID: 22085899) Chen G … Rotimi CN (European journal of human genetics : EJHG 2012) 3 40
  3. A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. (PMID: 22558097) Milton JN … Klings ES (PloS one 2012) 3 40
  4. A genome-wide association study identifies UGT1A1 as a regulator of serum cell-free DNA in young adults: The Cardiovascular Risk in Young Finns Study. (PMID: 22511988) Jylhävä J … Hurme M (PloS one 2012) 3 40
  5. Human metabolic individuality in biomedical and pharmaceutical research. (PMID: 21886157) Suhre K … Gieger C (Nature 2011) 3 40

Products for UGT1A5 Gene

Sources for UGT1A5 Gene