ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	UGT1A1
Previous Symbol	UGT1, GNT1
Symbol Alias	UGT1A
Approved Name	UDP glucuronosyltransferase 1 family, polypeptide A1
Previous Name	UDP glycosyltransferase 1 family, polypeptide A1
Location	2q37
Position	chr2:234668894-234681945, +
External Links	HGNC: 12530 Entrez Gene: 54658 Ensembl: ENSG00000241635 UCSC: uc002vvb.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 0)

LD-proxies (count: 7)

rs_ID	Location	Functional Annotation
rs3771342	Chr2:234672663(Fwd)	NMD_transcript_variant; intron_variant
rs17864705	Chr2:234672328(Fwd)	NMD_transcript_variant; intron_variant
rs2003569	Chr2:234667937(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs12052787	Chr2:234666581(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs1018124	Chr2:234676118(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant
rs12479045	Chr2:234673588(Fwd)	NMD_transcript_variant; intron_variant
rs17868342	Chr2:234673516(Fwd)	NMD_transcript_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 36)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 36)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006778	porphyrin-containing compound metabolic process	Biological Process		4
GO:0005887	integral to plasma membrane	Cellular Component		220
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0005496	steroid binding	Molecular Function	IDA[19996319]	7
GO:0007584	response to nutrient	Biological Process		15
GO:0006953	acute-phase response	Biological Process		10
GO:0006805	xenobiotic metabolic process	Biological Process		25
GO:0006789	bilirubin conjugation	Biological Process	TAS[1339448]	1
GO:0004857	enzyme inhibitor activity	Molecular Function	IDA[19996319]	9
GO:0001972	retinoic acid binding	Molecular Function		12
GO:0001889	liver development	Biological Process		14
GO:0042573	retinoic acid metabolic process	Biological Process		7
GO:0042594	response to starvation	Biological Process		6
GO:0042167	heme catabolic process	Biological Process		2
GO:0042493	response to drug	Biological Process		68
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0045939	negative regulation of steroid metabolic process	Biological Process	IC[19996319]	2
GO:0042803	protein homodimerization activity	Molecular Function		113
GO:0043086	negative regulation of catalytic activity	Biological Process	IDA[19996319]	7
GO:0008210	estrogen metabolic process	Biological Process	TAS[8780690]	3
GO:0015020	glucuronosyltransferase activity	Molecular Function		21
GO:0007586	digestion	Biological Process	NAS[1898728]	13
GO:0008202	steroid metabolic process	Biological Process	IC[19996319]	14
GO:0031100	organ regeneration	Biological Process		11
GO:0032496	response to lipopolysaccharide	Biological Process		22
GO:0017144	drug metabolic process	Biological Process	IC[19996319]	7
GO:0019899	enzyme binding	Molecular Function		47
GO:0070980	biphenyl catabolic process	Biological Process		1
GO:0071361	cellular response to ethanol	Biological Process		3
GO:0052697	xenobiotic glucuronidation	Biological Process		5
GO:0070069	cytochrome complex	Cellular Component		1
GO:0051552	flavone metabolic process	Biological Process	IDA[18052087]	5
GO:0052696	flavonoid glucuronidation	Biological Process		5
GO:0046483	heterocycle metabolic process	Biological Process	IC[19996319]	2
GO:0046982	protein heterodimerization activity	Molecular Function		68
GO:0071385	cellular response to glucocorticoid stimulus	Biological Process		2

Gene related KEGG pathways (count: 11)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00860	Porphyrin and chlorophyll metabolism	24
hsa00983	Drug metabolism - other enzymes	25
hsa00514	Other types of O-glycan biosynthesis	22	O-mannosyl glycans are a type of O-glycans that are found bo...... O-mannosyl glycans are a type of O-glycans that are found both in eukaryotes and prokaryotes. Biosynthesis of O-mannosyl glycans is initiated by the transfer of mannose from Man-P-Dol to serine or threonine residue, which is catalyzed by protein O-mannosyltransferases POMT1 and POMT2. Defects of these genes are linked to human diseases, such as muscular dystrophies caused by reduced O-mannosylation of alpha-dystroglycan in skeletal muscles [DS:H00120]. More...
hsa00053	Ascorbate and aldarate metabolism	20
hsa00040	Pentose and glucuronate interconversions	21
hsa00500	Starch and sucrose metabolism	26
hsa00982	Drug metabolism - cytochrome P450	29
hsa00140	Steroid hormone biosynthesis	24	Steroid hormones derived from cholesterol are a class of bio...... Steroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 compound, to the first C21 steroid, pregnenolone, which is converted by a bifunctional enzyme complex to the gestagen hormone, progesterone [MD:M00107]. Pregnenolone and progesterone are the starting materials for the three groups of steroids: C21 steroids of glucocorticoids and mineralocorticoids, C19 steroids of androgens, and C18 steroids of estrogens. (i) Progesterone is converted by hydroxylations at carbons 21 and 11 to corticosterone, which is further modified by hydroxylation and oxydoreduction at carbon 18 to yield aldosterone, a mineralcorticoid [MD:M00108]. Cortisol, the main glucocorticoid, is formed from 17alpha-hydroxyprogesterone with 11-deoxycortisol as an intermediate [MD:M00109]. (ii) Male hormone testosterone is formed from pregnenolone by two pathways, delta5 pathway via dehydroepiandrosterone and delta4 pathway via androstenedione [MD:M00110]. The enzyme CYP17A1 is responsible for the 17,20 lyase and 17alpha-hydroxylase activities in respective pathways. (iii) Female hormones estrone and estradiol are formed from testosterone and 4-androstene-3,17-dione by oxidative removal of the C19 methyl group and subsequent aromatization of ring A [MD:M00111]. In addition to these three groups, recent studies show that there is another group, termed neurosteroids, synthesized in the brain rather than the peripheral endocrine gland. More...
hsa00830	Retinol metabolism	20
hsa00980	Metabolism of xenobiotics by cytochrome P450	26

Genes shared at least 5 GO terms with UGT1A1 (count: 14)

Gene Symbol	Pathway Count	Pathway List
UGT1A8	16	endoplasmic reticulum membrane; steroid binding; enzyme inhibitor activity; retinoic acid binding; retinoic acid metabolic process; negative regulation of steroid metabolic process; protein homodimerization activity; negative regulation of catalytic activity; glucuronosyltransferase activity; steroid metabolic process; drug metabolic process; enzyme binding; xenobiotic glucuronidation; flavone metabolic process; flavonoid glucuronidation; protein heterodimerization activity;
UGT1A9	15	endoplasmic reticulum membrane; xenobiotic metabolic process; enzyme inhibitor activity; retinoic acid binding; retinoic acid metabolic process; small molecule metabolic process; protein homodimerization activity; negative regulation of catalytic activity; glucuronosyltransferase activity; drug metabolic process; enzyme binding; xenobiotic glucuronidation; flavone metabolic process; flavonoid glucuronidation; protein heterodimerization activity;
UGT1A7	13	endoplasmic reticulum membrane; enzyme inhibitor activity; retinoic acid binding; retinoic acid metabolic process; protein homodimerization activity; negative regulation of catalytic activity; glucuronosyltransferase activity; drug metabolic process; enzyme binding; xenobiotic glucuronidation; flavone metabolic process; flavonoid glucuronidation; protein heterodimerization activity;
UGT1A3	9	endoplasmic reticulum membrane; retinoic acid binding; retinoic acid metabolic process; protein homodimerization activity; glucuronosyltransferase activity; enzyme binding; xenobiotic glucuronidation; flavonoid glucuronidation; protein heterodimerization activity;
CYP2E1	8	endoplasmic reticulum membrane; xenobiotic metabolic process; response to drug; small molecule metabolic process; steroid metabolic process; drug metabolic process; enzyme binding; heterocycle metabolic process;
UGT1A4	8	endoplasmic reticulum membrane; xenobiotic metabolic process; retinoic acid binding; small molecule metabolic process; protein homodimerization activity; glucuronosyltransferase activity; enzyme binding; protein heterodimerization activity;
UGT1A6	8	endoplasmic reticulum membrane; xenobiotic metabolic process; retinoic acid binding; small molecule metabolic process; protein homodimerization activity; glucuronosyltransferase activity; enzyme binding; protein heterodimerization activity;
UGT1A10	7	endoplasmic reticulum membrane; retinoic acid binding; protein homodimerization activity; glucuronosyltransferase activity; enzyme binding; flavone metabolic process; protein heterodimerization activity;
UGT2B15	5	endoplasmic reticulum membrane; xenobiotic metabolic process; retinoic acid binding; glucuronosyltransferase activity; steroid metabolic process;
APOA1	5	response to nutrient; response to drug; small molecule metabolic process; organ regeneration; enzyme binding;
OXCT1	5	response to nutrient; response to starvation; response to drug; small molecule metabolic process; protein homodimerization activity;
COMT	5	xenobiotic metabolic process; response to drug; small molecule metabolic process; estrogen metabolic process; response to lipopolysaccharide;
MAOB	5	xenobiotic metabolic process; response to drug; small molecule metabolic process; protein homodimerization activity; response to lipopolysaccharide;
ACAT1	5	liver development; response to starvation; small molecule metabolic process; protein homodimerization activity; enzyme binding;

Genes shared at least 2 KEGG pathways with UGT1A1 (count: 47)

Gene Symbol	Pathway Count	Pathway List
UGT1A10	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT1A3	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT1A4	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT1A5	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT1A6	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT1A7	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT1A8	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT1A9	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT2A1	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT2A2	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT2A3	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT2B10	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT2B11	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT2B15	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT2B17	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT2B28	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT2B4	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
UGT2B7	11	Metabolic pathways; Porphyrin and chlorophyll metabolism; Drug metabolism - other enzymes; Other types of O-glycan biosynthesis; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions; Starch and sucrose metabolism; Drug metabolism - cytochrome P450; Steroid hormone biosynthesis; Retinol metabolism; Metabolism of xenobiotics by cytochrome P450;
ALDH3A1	3	Metabolic pathways; Drug metabolism - cytochrome P450; Metabolism of xenobiotics by cytochrome P450;
ALDH3A2	3	Metabolic pathways; Ascorbate and aldarate metabolism; Pentose and glucuronate interconversions;
ALDH3B1	3	Metabolic pathways; Drug metabolism - cytochrome P450; Metabolism of xenobiotics by cytochrome P450;
ALDH3B2	3	Metabolic pathways; Drug metabolism - cytochrome P450; Metabolism of xenobiotics by cytochrome P450;
CYP2E1	3	Metabolic pathways; Drug metabolism - cytochrome P450; Metabolism of xenobiotics by cytochrome P450;
ALAD	2	Metabolic pathways; Porphyrin and chlorophyll metabolism;
BCMO1	2	Metabolic pathways; Retinol metabolism;
CES1	2	Metabolic pathways; Drug metabolism - other enzymes;
CES5A	2	Metabolic pathways; Drug metabolism - other enzymes;
COMT	2	Metabolic pathways; Steroid hormone biosynthesis;
CRYL1	2	Metabolic pathways; Pentose and glucuronate interconversions;
EARS2	2	Metabolic pathways; Porphyrin and chlorophyll metabolism;
ENPP1	2	Metabolic pathways; Starch and sucrose metabolism;
ENPP3	2	Metabolic pathways; Starch and sucrose metabolism;
FECH	2	Metabolic pathways; Porphyrin and chlorophyll metabolism;
FUT4	2	Metabolic pathways; Other types of O-glycan biosynthesis;
HK1	2	Metabolic pathways; Starch and sucrose metabolism;
HKDC1	2	Metabolic pathways; Starch and sucrose metabolism;
HMBS	2	Metabolic pathways; Porphyrin and chlorophyll metabolism;
HSD17B2	2	Metabolic pathways; Steroid hormone biosynthesis;
HSD17B3	2	Metabolic pathways; Steroid hormone biosynthesis;
ITPA	2	Metabolic pathways; Drug metabolism - other enzymes;
MAOA	2	Metabolic pathways; Drug metabolism - cytochrome P450;
MAOB	2	Metabolic pathways; Drug metabolism - cytochrome P450;
NAT2	2	Metabolic pathways; Drug metabolism - other enzymes;
UPB1	2	Metabolic pathways; Drug metabolism - other enzymes;
GSTP1	2	Drug metabolism - cytochrome P450; Metabolism of xenobiotics by cytochrome P450;
GSTT1	2	Drug metabolism - cytochrome P450; Metabolism of xenobiotics by cytochrome P450;
GSTT2	2	Drug metabolism - cytochrome P450; Metabolism of xenobiotics by cytochrome P450;

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Region: chr2:234668894..234681945 View in gBrowse