Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54658
Gene name	UDP glucuronosyltransferase family 1 member A1
Gene symbol	UGT1A1
Synonyms (NCBI Gene)	BILIQTL1GNT1HUG-BR1UDPGTUDPGT 1-1UGT1UGT1A
Chromosome	2
Chromosome location	2q37.1
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 comp

Show/Hide all (33)

miRTarBase ID	miRNA	Experiments
MIRT1473325	hsa-miR-1202	CLIP-seq
MIRT1473326	hsa-miR-136	CLIP-seq
MIRT1473327	hsa-miR-3120-5p	CLIP-seq
MIRT1473328	hsa-miR-3130-3p	CLIP-seq
MIRT1473329	hsa-miR-3194-5p	CLIP-seq
MIRT1473330	hsa-miR-346	CLIP-seq
MIRT1473331	hsa-miR-3909	CLIP-seq
MIRT1473332	hsa-miR-3940-5p	CLIP-seq
MIRT1473333	hsa-miR-3972	CLIP-seq
MIRT1473334	hsa-miR-4288	CLIP-seq
MIRT1473335	hsa-miR-4421	CLIP-seq
MIRT1473336	hsa-miR-4507	CLIP-seq
MIRT1473337	hsa-miR-4766-5p	CLIP-seq
MIRT1473338	hsa-miR-4793-3p	CLIP-seq
MIRT1473339	hsa-miR-489	CLIP-seq
MIRT1473340	hsa-miR-514	CLIP-seq
MIRT1473341	hsa-miR-514b-3p	CLIP-seq
MIRT1473342	hsa-miR-548a-5p	CLIP-seq
MIRT1473343	hsa-miR-548ab	CLIP-seq
MIRT1473344	hsa-miR-548ak	CLIP-seq
MIRT1473345	hsa-miR-548b-5p	CLIP-seq
MIRT1473346	hsa-miR-548c-5p	CLIP-seq
MIRT1473347	hsa-miR-548d-5p	CLIP-seq
MIRT1473348	hsa-miR-548h	CLIP-seq
MIRT1473349	hsa-miR-548i	CLIP-seq
MIRT1473350	hsa-miR-548j	CLIP-seq
MIRT1473351	hsa-miR-548n	CLIP-seq
MIRT1473352	hsa-miR-548w	CLIP-seq
MIRT1473353	hsa-miR-548y	CLIP-seq
MIRT1473354	hsa-miR-559	CLIP-seq
MIRT1473355	hsa-miR-629	CLIP-seq
MIRT1473356	hsa-miR-632	CLIP-seq
MIRT2142600	hsa-miR-579	CLIP-seq

Show/Hide all (7)

Transcription factor	Regulation	Reference
AHR	Activation	18172616
HNF1A	Activation	18172616
NR1I2	Activation	18172616
NR1I3	Activation	18172616
NR1I3	Unknown	11343253
NR3C1	Activation	18172616
NR3C1	Unknown	15557560

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001972	Function	Retinoic acid binding	IDA	20308471
GO:0004857	Function	Enzyme inhibitor activity	IDA	19996319
GO:0004857	Function	Enzyme inhibitor activity	ISS	20610558
GO:0005496	Function	Steroid binding	IDA	19996319
GO:0005515	Function	Protein binding	IPI	20610558, 27025983, 27857056, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	17179145
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	20610558
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IKR	20610558
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	20610558
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006789	Process	Bilirubin conjugation	TAS	1339448
GO:0006805	Process	Xenobiotic metabolic process	IC	19996319
GO:0006805	Process	Xenobiotic metabolic process	IDA	20056724
GO:0006805	Process	Xenobiotic metabolic process	IKR	20610558
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0008202	Process	Steroid metabolic process	IC	19996319
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008210	Process	Estrogen metabolic process	IDA	15472229, 18719240, 19830808
GO:0008210	Process	Estrogen metabolic process	TAS
GO:0009812	Process	Flavonoid metabolic process	IDA	20056724
GO:0015020	Function	Glucuronosyltransferase activity	IDA	1898728, 15231852, 15472229, 17179145, 18052087, 18719240, 19830808, 19996319, 20056724, 20308471, 21422672, 22579593, 38211441
GO:0015020	Function	Glucuronosyltransferase activity	IEA
GO:0015020	Function	Glucuronosyltransferase activity	IKR	20610558
GO:0015020	Function	Glucuronosyltransferase activity	ISS	20610558
GO:0015020	Function	Glucuronosyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0019899	Function	Enzyme binding	IBA
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	17179145, 20610558
GO:0034663	Component	Endoplasmic reticulum chaperone complex	IEA
GO:0042573	Process	Retinoic acid metabolic process	IC	20308471
GO:0042803	Function	Protein homodimerization activity	IDA	17179145
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0045922	Process	Negative regulation of fatty acid metabolic process	ISS	20610558
GO:0045939	Process	Negative regulation of steroid metabolic process	IC	19996319
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	20610558
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051552	Process	Flavone metabolic process	IDA	18052087

MIM	HGNC	e!Ensembl
191740	12530	ENSG00000241635

P22309

Protein name

UDP-glucuronosyltransferase 1A1 (UGT1A1) (EC 2.4.1.17) (Bilirubin-specific UDPGT isozyme 1) (hUG-BR1) (UDP-glucuronosyltransferase 1-1) (UDPGT 1-1) (UGT1*1) (UGT1-01) (UGT1.1) (UDP-glucuronosyltransferase 1A isoform 1)

Protein 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 i

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00201	UDPGT	28 → 524	UDP-glucoronosyl and UDP-glucosyl transferase	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Expressed in liver, colon and small intestine. Not expressed in kidney, esophagus and skin. {ECO:0000269|PubMed:1339448, ECO:0000269|PubMed:17187418, ECO:0000269|PubMed:18004212}.; TISSUE SPECIFICITY: [Isoform 2]: Expresse

Sequence

MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVL
APDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDS
AMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLE
FEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQR
EVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEH
GIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDL
LGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTS
EDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHD
LTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH

Sequence length

533

Interactions

View interactions

	KEGG		Reactome
	Pentose and glucuronate interconversions Ascorbate and aldarate metabolism Steroid hormone biosynthesis Retinol metabolism Porphyrin metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 Drug metabolism - other enzymes Metabolic pathways Biosynthesis of cofactors Bile secretion Chemical carcinogenesis - DNA adducts Chemical carcinogenesis - receptor activation		Glucuronidation Defective UGT1A1 causes hyperbilirubinemia

441

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1	Likely pathogenic; Pathogenic	rs2126038220, rs1424603943, rs2472950680, rs72551349, rs587776762, rs587776764, rs587776765, rs34993780, rs111033541, rs72551343, rs1559415403	RCV005017162 RCV005021796 RCV005021819 RCV005016257 RCV005025046 RCV005025047 RCV005025048 RCV000763480 RCV002496334 RCV005018862 RCV005021140
Crigler-Najjar syndrome	Pathogenic; Likely pathogenic	rs367897068, rs72551353, rs72551340, rs1553620849, rs766536479, rs72551343, rs139607673	RCV003229499 RCV003387719 RCV000501478 RCV000503758 RCV000500693 RCV000503589 RCV000503685
Crigler-Najjar syndrome type 1	Likely pathogenic; Pathogenic	rs2126038220, rs2125989471, rs1424603943, rs797046091, rs2472950680, rs748219743, rs587776761, rs72551353, rs111033539, rs72551349, rs587776762, rs62625011, rs281865418, rs587776763, rs587776764 View all (8 more)	RCV005017162 RCV002262166 RCV005021796 RCV001450051 RCV005021819 RCV000256423 RCV000013053 RCV000013054 RCV000013055 RCV000013056 RCV000013059 RCV000013060 RCV000013061 RCV000013067 RCV000013068 RCV000013069 RCV000013070 RCV000763480 RCV002496334 RCV003989472 RCV004771551 RCV005018862 RCV005021140
Crigler-Najjar syndrome, type II	Pathogenic; Likely pathogenic	rs72551345, rs2126038220, rs2125989471, rs1424603943, rs200370335, rs2472950680, rs72551349, rs587776762, rs587776764, rs587776765, rs34993780, rs111033541, rs2472956769, rs2473171944, rs72551343, rs1559415403 View all (1 more)	RCV001808119 RCV005017162 RCV002262166 RCV005021796 RCV003108246 RCV005021819 RCV005016257 RCV005025046 RCV005025047 RCV005025048 RCV000013074 RCV000013081 RCV003388672 RCV003989472 RCV001727734 RCV005021140
Gilbert syndrome	Likely pathogenic; Pathogenic	rs1373930486, rs2125987779, rs1169717734, rs2126038122, rs2125981899, rs2126038220, rs2125989471, rs1424603943, rs2472950680, rs748219743, rs72551349, rs587776762, rs62625011, rs587776764, rs587776765 View all (7 more)	RCV004720320 RCV002221188 RCV002221190 RCV002221172 RCV002226966 RCV002246803 RCV002262166 RCV005021796 RCV005021819 RCV003445825 RCV000013057 RCV005025046 RCV002247330 RCV005025047 RCV005025048 RCV000763480 RCV002496334 RCV003989472 RCV004577298 RCV005018862 RCV000999559 RCV005021140
Hyperbilirubinemia	Likely pathogenic; Pathogenic	rs587784535, rs797046090, rs797046091, rs34993780	RCV000147893 RCV000193803 RCV000194838 RCV000147900
Lucey-Driscoll syndrome	Likely pathogenic; Pathogenic	rs2126038220, rs2125989471, rs1424603943, rs2472950680, rs72551349, rs587776762, rs587776764, rs587776765, rs34993780, rs3755319, rs111033541, rs2473171944, rs72551343, rs1559415403	RCV005017162 RCV002262166 RCV005021796 RCV005021819 RCV005016257 RCV005025046 RCV005025047 RCV005025048 RCV000013073 RCV000013075 RCV002496334 RCV003989472 RCV005018862 RCV005021140
UGT1A1-related disorder	Likely pathogenic; Pathogenic	rs775463336, rs1476500325, rs1559414817, rs1697605792, rs797046090, rs797046091, rs748219743, rs72551349, rs62625011, rs34993780, rs1697345011, rs72551343, rs1559406508, rs1559415403	RCV004738384 RCV004536348 RCV002280264 RCV004538860 RCV004541254 RCV004545759 RCV004535243 RCV004737145 RCV004737146 RCV004540998 RCV004531667 RCV004527613 RCV004545798 RCV004737991

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
irinotecan response - Toxicity	drug response	rs10929302	RCV001788391

Show/Hide Text Mining Associations (127)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	39522022
Adenocarcinoma	Associate	28056823, 28493308, 32058557, 35328047, 38250763
Adenocarcinoma of Lung	Associate	24047243, 35328047
Alopecia	Associate	25202035
alpha Thalassemia	Associate	16628735, 32751969
Anemia Hemolytic	Associate	34672909
Anemia Sickle Cell	Associate	15388579, 16628735, 17593033, 18392554, 18756540, 22558097, 23827693, 24060717, 24167350, 24204915, 26146896, 31619193
Asthenia	Associate	29504153
beta Thalassemia	Associate	11843828, 24204915
Bile Duct Diseases	Associate	40184140
Biliary Tract Neoplasms	Associate	26229432
Bone Marrow Diseases	Associate	21486535, 23892411
Breast Neoplasms	Inhibit	15318931
Breast Neoplasms	Associate	16280036, 17909964, 27525948, 28178648, 34886806
Bronchopulmonary Dysplasia	Associate	26666247
Carcinogenesis	Associate	25712374
Carcinoid Tumor	Associate	22450351
Carcinoma Hepatocellular	Associate	22447115, 23382909, 25288013, 26010150
Carcinoma Non Small Cell Lung	Associate	33090402
Carcinoma Renal Cell	Associate	31007253, 38131663
Carcinoma Squamous Cell	Associate	34887858, 35328047
Cardiotoxicity	Associate	38547766
Central Nervous System Infections	Associate	25319636, 29137095
Cerebral Palsy	Associate	39978853
Chemical and Drug Induced Liver Injury	Associate	26125716, 29386646, 31240859, 31640912
Cholangitis Sclerosing	Associate	40184140
Cholelithiasis	Associate	11843828, 16237771, 16628735, 17593033, 23207817, 24167350, 24204915, 26146896, 31602632, 32751969
Clear cell metastatic renal cell carcinoma	Associate	31640912
Clostridium Infections	Associate	35226656
Colitis Ulcerative	Associate	40184140
Colorectal Neoplasms	Associate	15280927, 15929176, 18594531, 18675828, 18797458, 19125128, 19859999, 20028383, 20096102, 20628391, 21287524, 21486535, 21654688, 23236239, 23892411 View all (28 more)
Conotruncal cardiac defects	Associate	36878495
Coronary Artery Disease	Associate	17952380, 18790042
Crigler Najjar Syndrome	Associate	15388579, 16171463, 17229650, 24065680, 24286076, 24793765, 25086287, 25319636, 26676689, 26716871, 30285761, 30544479, 31467903, 31553814, 32143638 View all (9 more)
Crigler Najjar syndrome type 2	Associate	16269258, 17098698, 21319362, 24065680, 24401909, 25319636, 29137095, 30285761, 30544479, 31142299, 35436954, 9639672
Crohn Disease	Stimulate	35872023
Cystic Fibrosis	Associate	9639672
Death	Associate	21287524, 29085228
Dehydration	Associate	39978853
Developmental Disabilities	Associate	39978853
Diabetes Mellitus Type 2	Associate	26628212, 37445792
Diarrhea	Associate	15280927, 16456808, 16951398, 18300238, 19125128, 20628391, 23236239, 23892411, 24815493, 24958824, 25880011, 28397089, 28637434, 29131533, 29504153 View all (10 more)
Disease	Associate	15388579
Disease Resistance	Associate	37260062
Drug Related Side Effects and Adverse Reactions	Associate	15858133, 16965601, 18300238, 18832463, 20028383, 21287524, 21654688, 23840132, 24033692, 26229432, 26808671, 27461651, 27507617, 27883280, 28085011 View all (20 more)
Dyslipidemias	Associate	29220881
Endometrial Neoplasms	Associate	22633539
Enterocolitis Neutropenic	Associate	21486535
Epilepsy Tonic Clonic	Associate	11843828
Esophageal Neoplasms	Stimulate	22367021
Fabry Disease	Associate	17593033, 28951772
Fatigue	Associate	30645764
Febrile Neutropenia	Associate	21486535, 29530335, 30527181, 34998046, 35637361
Fibular hypoplasia and complex brachydactyly	Associate	35340156
Galactosemias	Associate	21319362
Gallbladder Diseases	Associate	18756540, 36055244
Gallstones	Associate	10498597, 11843828, 15388579, 17593033, 23207817, 24060717, 24167350, 26146896, 31619193
Gardner Syndrome	Associate	16269258, 27444220
Gastrointestinal Diseases	Associate	33728696
Gastrointestinal Neoplasms	Associate	27525948
Genetic Diseases Inborn	Associate	17229650, 28338110
Gilbert Disease	Associate	10498597, 11843828, 15388579, 15858133, 16269258, 16610035, 18832463, 20177420, 20389299, 20529348, 20924216, 21319362, 22135857, 22169899, 22299209 View all (33 more)
Gilbert Disease	Inhibit	23388413, 28338110
Glucosephosphate Dehydrogenase Deficiency	Associate	26727668, 33622990, 33637102, 34895177
Glutaric Acidemia I	Associate	27557546
Hearing Loss	Associate	39978853
Heart Defects Congenital	Associate	36878495
Heart Failure	Associate	17978490, 37260062
Heart Septal Defects	Associate	36878495
Hematologic Diseases	Associate	15280927, 20628391, 21287524, 21892003, 23386248, 24033692, 24114122, 30246377
Hemolysis	Associate	24060717, 32049823, 34074250
Hepatitis C Chronic	Associate	28296739
Hereditary Angioedema Type III	Associate	27525948
HIV Infections	Associate	20890421, 23264445
Hodgkin Disease	Associate	18768784, 33671849
Hyperbilirubinemia	Associate	12502904, 15388579, 16170755, 17506482, 18756540, 20389299, 20647221, 20890421, 22169899, 22299209, 22307138, 23148286, 23207817, 24167350, 24204915 View all (33 more)
Hyperbilirubinemia Neonatal	Associate	12502904, 22299209, 23388413, 25102181, 26146841, 27557546, 27980881, 28399191, 29534743, 29607327, 30298137, 32571672, 34074250, 34895177, 35501760 View all (4 more)
Hypersensitivity Immediate	Associate	26676689
Hypoglycemia	Associate	39978853
Jaundice	Associate	16170755, 18832463, 20668247, 22299209, 23388413, 30287871, 32751969, 33622990, 34625956, 35436954
Jaundice Chronic Idiopathic	Associate	36274106
Jaundice Neonatal	Associate	16623861, 17506482, 22299209, 23388413, 36520959
Kernicterus	Associate	20668247, 22299209, 26727668, 32571672, 9653159
Laryngeal Neoplasms	Associate	26751466
Leukemia Myeloid Acute	Associate	30016963, 36951168
Leukopenia	Associate	20860988, 29052349, 30447099, 35233973
Lung Diseases	Associate	25086287
Lung Neoplasms	Associate	27883280, 29052349, 31685767, 33090402, 35328047
Mucositis	Associate	33728696, 35340156
Multiple Sclerosis	Associate	30298137
Nausea	Associate	31558477
Neoplasm Metastasis	Associate	15929176
Neoplasms	Inhibit	15318931
Neoplasms	Associate	16280036, 16965601, 17627617, 20653675, 22450351, 23303296, 23963147, 24114122, 24244442, 24958824, 25210794, 25288013, 25712374, 26010150, 26125716 View all (4 more)
Neoplasms Squamous Cell	Associate	26482555, 33671849
Neoplastic Syndromes Hereditary	Associate	36274106
Neuropathy Hereditary Sensory And Autonomic Type I With Cough And Gastroesophageal Reflux	Associate	32758288
Neutropenia	Associate	17409981, 17627617, 18300238, 19349540, 19349543, 20177420, 20530282, 20628391, 20653675, 20860988, 21150467, 21486535, 21740478, 22516947, 23236239 View all (18 more)
Obesity	Associate	24901842
Obesity	Inhibit	27980881
Oculocutaneous albinism type 2	Associate	24401909
Osteoporosis	Associate	34462452
Pancreatic Neoplasms	Associate	25076337, 33386925, 34595239, 35637361
Precancerous Conditions	Associate	32323779
Prostatic Neoplasms	Associate	21771722
Psychotic Disorders	Associate	35197553
Rectal Neoplasms	Associate	30246377, 33119477
Respiratory Insufficiency	Associate	30421550
Respiratory Tract Diseases	Associate	26666247
Retinoblastoma	Associate	31207142
Scleroderma Limited	Associate	24114122
Shock Septic	Associate	29504153, 35987938
Small Cell Lung Carcinoma	Associate	25450281, 30527181, 33728696
Smoke Inhalation Injury	Associate	25086287
Spherocytosis Hereditary	Associate	10498597, 20924216, 21319362, 31122244, 34672909, 35650129, 37385619
Spinocerebellar Ataxia 11	Associate	32881938
Squamous Cell Carcinoma of Head and Neck	Associate	26751466
Stomach Neoplasms	Associate	25712374, 28056823, 32666389
Syndrome	Associate	15858133
Systemic carnitine deficiency	Associate	23827693
Tertiary Lymphoid Structures	Associate	32758288
Thalassemia	Associate	24060717
Thrombocytopenia	Associate	26313268
Unilateral Breast Neoplasms	Associate	36878495
Uterine Cervical Neoplasms	Associate	32758288
Vomiting	Associate	16456808, 35340156
Wilms Tumor	Associate	34327766

UGT1A1 (UDP glucuronosyltransferase family 1 member A1)