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FLASH GENE

Symbol

UGT1A1

contributors: SGE/pgu - updated : 07-05-2010

HGNC name	UDP glycosyltransferase 1 family, polypeptide A1
HGNC id	12530

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CNS1 Crigler-Najjar syndrome 1 CNS2 Crigler-Najjar syndrome 2 GBTS Gilbert syndrome
Location	2q37.1      Physical location : 234.668.918 - 234.681.945
Synonym name	UDP-glucuronosyltransferase 1A1
	bilirubin-specific UDPGT isozyme 1
	bilirubin UDP-glucuronosyltransferase 1-1
	bilirubin UDP-glucuronosyltransferase isozyme 1
Synonym symbol(s)	GNT1, UGT1, UDPGT, UGT1A, HUG-BR1, UGT1-01
EC.number	2.4.1.17

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	see UGT1A@
STRUCTURE	13.00 kb     5 Exon(s)

regulatory sequence	Promoter
	Binding site   enhancer
text structure	specific promoter/first exon spliced to common exons 2 to 5
	phenobarbital -responsive enhancer module

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	a N specific terminal specific exon 1A1 spliced to the common 2 to 5 exons

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000463 5 - 2357 NP_000454 - 533 - -

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       lowly   intestine large intestine colon       intestine small intestine     moderately   intestine large intestine rectum   moderately   liver       highly Endocrine thyroid       lowly Nervous spinal cord       lowly Reproductive female system uterus     lowly Respiratory respiratory tract trachea     lowly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining endometrium

cells

System Cell Pubmed Species Stage Rna symbol Digestive enterocyte Digestive goblet

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	free thiol groups, but not disulphide bonding, of seven cysteine residues within the intracisternal region important for its catalytic activity
	cysteine residues in the cytosolic domain involved in its physiological activation by UDP-GlcNAc

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to murine Ugt1a1 (79.6pc)
	homolog to rattus Ugt1a1 (80.2pc)

Homologene

FAMILY

UDP-glycosyltransferase family

CATEGORY

enzyme , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome
text	intestine, ileum and jejunum microsomes

basic FUNCTION

playing a major role in controlling serum bilirubin level, by detoxification of potentially neurotoxic bilirubin (conjugating it with glucuronic acid)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

part of a large chaperone multiprotein complex comprising CABP1, DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CNS1 , GBTS , CNS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in endometrial cancer

Susceptibility

to bladder cancer

Variant & Polymorphism repeat	UGT1A1*28 genotype and male gender predict an increased incidence of liver functional test abnormalities during pegvisomant therapy in acromegaly
	patients carrying UGT1A1 *28 allele(s) are at an increased risk of irinotecan-induced severe diarrhoea
	UGT1A1*1 polymorphism, which results in lower serum levels of the endogenous antioxidant bilirubin, was associated with an increased risk of head and neck cancer
	UGT1A1 A(TA)(7)TAA allele is a potential risk factor for breast cancer in Caucasians
	the c.-3279T>G mutation in the UGT1A1 promoter is a genetic risk factor for neonatal jaundice
	rs6742078 variant explains 18percent of the variation in total of serum bilirubin levels

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed digestive liver   variation of glucuronidation in patients with Gilbert Syndrome impacts drug therapy, particularly with drugs that have a narrow therapeutic spectrum

ANIMAL & CELL MODELS