UGT1A5

Chr 2

UDP glucuronosyltransferase family 1 member A5

Also known as: UDPGT, UDPGT 1-5, UGT1E

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]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.29
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.29LOEUF
pLI 0.000
Z-score 0.68
OE 0.82 (0.541.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.30Z-score
OE missense 1.05 (0.951.15)
314 obs / 299.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.82 (0.541.29)
00.351.4
Missense OE?1.05 (0.951.15)
00.61.4
Synonymous OE?1.25
01.21.6
LoF obs/exp: 14 / 17.0Missense obs/exp: 314 / 299.6Syn Z: -2.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UGT1A5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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