UGT1A3

protein-coding

UDP glucuronosyltransferase family 1 member A3, the group of UDP glucuronosyltransferases

Gene summary

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. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_019093.4

Inheritance

—

ClinVar variants

P:48U:115B:43

Top phenotype

Gilbert syndrome

Max pathogenic AF

—

Genomic locus

chr2:233,729,042-233,773,300

External References & Databases

Ensembl (ENSG00000288702)

Transcript & Mutation Effects

hg38 • Region Span ~44.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to UGT1A3 variants in ClinVar

15 Conditions Cataloged

not providedTotal: 265

Gilbert syndromeTotal: 93

UGT1A1-related disorderTotal: 92

Lucey-Driscoll syndromeTotal: 77

not specifiedTotal: 74

Crigler-Najjar syndrome type 1Total: 65

Crigler-Najjar syndrome, type IITotal: 58

Crigler-Najjar syndromeTotal: 40

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019093.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	32 clinvar	1 clinvar	35
missense	5 clinvar	19 clinvar	112 clinvar	10 clinvar		146
nonsense	4 clinvar	3 clinvar	1 clinvar			8
start loss						0
frameshift	6 clinvar	5 clinvar				11
splice donor/acceptor (+/-2bp)	2 clinvar	4 clinvar				6
Total	17	31	115	42	1	206

Highest pathogenic variant AF is 0.00048507

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019093.4	RefSeq	NP_061966.1	5	MANE Select
ENST00000482026.6	Ensembl	ENSP00000418532.1	5	MANE Select
ENST00000979348.1	Ensembl	ENSP00000649165.1	5	Standard
ENST00001094038.1	Ensembl	ENSP00000763844.1	5	Standard