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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54657
Gene name Gene Name - the full gene name approved by the HGNC.	UDP glucuronosyltransferase family 1 member A4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	UGT1A4
Synonyms (NCBI Gene) Gene synonyms aliases	GNT1, HUG-BR2, UDPGT, UDPGT 1-4, UGT-1A, UGT-1D, UGT1, UGT1-01, UGT1-04, UGT1.1, UGT1.4, UGT1A, UGT1A1, UGT1A4S, UGT1D, hUG-BR1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q37.1
Summary Summary of gene provided in NCBI Entrez 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 comp

Show/Hide all(33)

miRTarBase ID	miRNA	Experiments
MIRT1473389	hsa-miR-1202	CLIP-seq
MIRT1473390	hsa-miR-136	CLIP-seq
MIRT1473391	hsa-miR-3120-5p	CLIP-seq
MIRT1473392	hsa-miR-3130-3p	CLIP-seq
MIRT1473393	hsa-miR-3194-5p	CLIP-seq
MIRT1473394	hsa-miR-346	CLIP-seq
MIRT1473395	hsa-miR-3909	CLIP-seq
MIRT1473396	hsa-miR-3940-5p	CLIP-seq
MIRT1473397	hsa-miR-3972	CLIP-seq
MIRT1473398	hsa-miR-4288	CLIP-seq
MIRT1473399	hsa-miR-4421	CLIP-seq
MIRT1473400	hsa-miR-4507	CLIP-seq
MIRT1473401	hsa-miR-4766-5p	CLIP-seq
MIRT1473402	hsa-miR-4793-3p	CLIP-seq
MIRT1473403	hsa-miR-489	CLIP-seq
MIRT1473404	hsa-miR-514	CLIP-seq
MIRT1473405	hsa-miR-514b-3p	CLIP-seq
MIRT1473406	hsa-miR-548a-5p	CLIP-seq
MIRT1473407	hsa-miR-548ab	CLIP-seq
MIRT1473408	hsa-miR-548ak	CLIP-seq
MIRT1473409	hsa-miR-548b-5p	CLIP-seq
MIRT1473410	hsa-miR-548c-5p	CLIP-seq
MIRT1473411	hsa-miR-548d-5p	CLIP-seq
MIRT1473412	hsa-miR-548h	CLIP-seq
MIRT1473413	hsa-miR-548i	CLIP-seq
MIRT1473414	hsa-miR-548j	CLIP-seq
MIRT1473415	hsa-miR-548n	CLIP-seq
MIRT1473416	hsa-miR-548w	CLIP-seq
MIRT1473417	hsa-miR-548y	CLIP-seq
MIRT1473418	hsa-miR-559	CLIP-seq
MIRT1473419	hsa-miR-629	CLIP-seq
MIRT1473420	hsa-miR-632	CLIP-seq
MIRT2142602	hsa-miR-579	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
ESR1	Activation	19546240
SP1	Activation	19546240

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001972	Function	Retinoic acid binding	IDA	20308471
GO:0005783	Component	Endoplasmic reticulum	IDA	17179145
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006789	Process	Bilirubin conjugation	TAS
GO:0015020	Function	Glucuronosyltransferase activity	IDA	1898728, 18177842, 22579593, 24641623
GO:0016021	Component	Integral component of membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	17179145
GO:0042167	Process	Heme catabolic process	TAS
GO:0042803	Function	Protein homodimerization activity	IDA	17179145
GO:0052695	Process	Cellular glucuronidation	IDA	18177842, 22579593, 24641623
GO:0052695	Process	Cellular glucuronidation	TAS
GO:0052696	Process	Flavonoid glucuronidation	IBA	21873635
GO:0052697	Process	Xenobiotic glucuronidation	IBA	21873635
GO:0070640	Process	Vitamin D3 metabolic process	IDA	18177842, 24641623

MIM	HGNC	e!Ensembl
606429	12536	ENSG00000244474

Protein

UniProt ID

P22310

Protein name

UDP-glucuronosyltransferase 1A4 (UGT1A4) (EC 2.4.1.17) (Bilirubin-specific UDPGT isozyme 2) (hUG-BR2) (UDP-glucuronosyltransferase 1-4) (UDPGT 1-4) (UGT1*4) (UGT1-04) (UGT1.4) (UDP-glucuronosyltransferase 1-D) (UGT-1D) (UGT1D)

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	29 → 525	UDP-glucoronosyl and UDP-glucosyl transferase	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Expressed in liver (PubMed:1339448, PubMed:18004212). Expressed in kidney, colon and small intestine (PubMed:18004212). Not expressed in esophagus (PubMed:18004212). Not expressed in skin (PubMed:1339448). {ECO:0000269|Pub

Sequence

MARGLQVPLPRLATGLLLLLSVQPWAESGKVLVVPTDGSPWLSMREALRELHARGHQAVV
LTPEVNMHIKEEKFFTLTAYAVPWTQKEFDRVTLGYTQGFFETEHLLKRYSRSMAIMNNV
SLALHRCCVELLHNEALIRHLNATSFDVVLTDPVNLCGAVLAKYLSIPAVFFWRYIPCDL
DFKGTQCPNPSSYIPKLLTTNSDHMTFLQRVKNMLYPLALSYICHTFSAPYASLASELFQ
REVSVVDLVSYASVWLFRGDFVMDYPRPIMPNMVFIGGINCANGKPLSQEFEAYINASGE
HGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQND
LLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMT
SEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAH
DLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH

Sequence length

534

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 Heme degradation Defective UGT1A4 causes hyperbilirubinemia

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Sickle Cell	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)	22558097
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752	22558097
Crigler-najjar syndrome	Crigler Najjar syndrome, type 1, Crigler Najjar syndrome, type 2	rs587776761, rs72551353, rs111033539, rs72551349, rs72551348, rs587776762, rs62625011, rs281865418, rs587776763, rs587776764, rs587776765, rs587776766, rs34993780, rs72551351, rs111033541 View all (7 more)	26697581, 15712364, 11182932
Gilbert disease	Gilbert Disease (disorder)	rs72551349, rs62625011, rs34993780, rs72551351, rs748219743
Lucey-driscoll syndrome	Lucey-Driscoll syndrome (disorder)	rs34993780, rs3755319
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	30621171
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)	25246029

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Celiac disease	Celiac Disease	30097691	ClinVar
Metabolic Syndrome	Metabolic Syndrome		GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	32456253, 34886806
Carcinoma Hepatocellular	Associate	25288013, 26010150
Epilepsy	Associate	23865846
Gallbladder Diseases	Associate	36055244
Gastroschisis	Associate	31075877
Hematologic Neoplasms	Associate	29661871
Idiopathic Noncirrhotic Portal Hypertension	Associate	29695616
Jaundice	Associate	39214992
Jaundice Neonatal	Associate	39214992
Liver Cirrhosis Alcoholic	Associate	29695616
Neoplasms	Associate	15855727, 25288013, 26010150

UGT1A4 (UDP glucuronosyltransferase family 1 member A4)