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	XYLT1
Symbol Alias	XT-I, PXYLT1
Approved Name	xylosyltransferase I
Name Alias	protein xylosyltransferase 1
Location	16p12
Position	chr16:17196181-17564738, -
External Links	HGNC: 15516 Entrez Gene: 64131 Ensembl: ENSG00000103489 UCSC: uc002dfa.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 3)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_21	chr16:15156431-18174650 (NCBI Build 36.1 (hg18))	3006995	16p13.11-16p12.3	Gain
CNV_Jarick[2012]_34	chr16:17403825-18174650 (NCBI36 / hg18)	770826	16p12.3	dup
CNV_Williams[2010]_4	chr16:15398985-18174650 (NCBI Build 36.1 (hg18))	2775666	16p13.11-16p12.3	Gain	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
16p12.3-12.2	chr16:16800000-24200000	1 (1/0/0)

Gene related GO terms (count: 10)

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

GO terms by database search (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0008375	acetylglucosaminyltransferase activity	Molecular Function		2
GO:0006024	glycosaminoglycan biosynthetic process	Biological Process	TAS[11099377]	7
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0005576	extracellular region	Cellular Component		240
GO:0000139	Golgi membrane	Cellular Component		95
GO:0034605	cellular response to heat	Biological Process		4
GO:0015012	heparan sulfate proteoglycan biosynthetic process	Biological Process		3
GO:0016021	integral to membrane	Cellular Component		845
GO:0030158	protein xylosyltransferase activity	Molecular Function	TAS[11099377]	1
GO:0030206	chondroitin sulfate biosynthetic process	Biological Process		4

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate	5	Glycosaminoglycans (GAGs) are linear polysaccharide chains c...... Glycosaminoglycans (GAGs) are linear polysaccharide chains consisting of repeating disaccharide units and form proteglycans by covalently attaching to their core proteins. Chondroitin sulfate (CS) is a glycosaminoglycan with the disaccharide unit GalNAc(b1-4)GlcA(b1-3), modified with ester-linked sulfate at certain positions. Dermatan sulfate (DS) is a modified form of CS, in which a portion of D-glucuronate residues is epimerized to L-iduronates. CS and DS are linked to serine residues in core proteins via a linkage tetrasaccharide formed by the transfer of xylose and three more residues [MD:M00057]. The assembly process of CS is initiated by the transfer of N-acetylgalactosamine to the linkage tetrasaccharide. The polymerization step is catalyzed by bifunctional enzymes (chondroitin synthases) that have both b1-3 glucuronosyltransferase and b1-4 N-acetylgalactosaminyltransferase activities [MD:M00058]. Chondroitin polymerization also requires the action of the chondroitin polymerizing factor. Sulfation of chondroitin in vertebrates is a complex process, with multiple sulfotransferases involved in 4-O sulfation and 6-O sulfation of N-acetylgalactosamine residues. Additional enzymes exist for epimerization of glucuronic acid to iduronic acid in DS, sulfation at the C-2 position of the uronic acids, and other patterns of sulfation found in unusual species of chondroitin. More...
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate	5	Heparan sulfate (HS) is a glycosaminoglycan with the basic d...... Heparan sulfate (HS) is a glycosaminoglycan with the basic disaccharide unit GlcNAc(a1-4)GlcA(b1-4), containing N- and O-sulfate esters at various positions. HS is covalently attached to serine residues in a proteoglycan core protein via the linkage tetrasaccharide. The addition of the first GlcNAc residue is catalyzed by EXTL3 glycosyltransferase, followed by the polymerization steps catalyzed by EXT1 and EXT2 transferases. As the chains polymerize, HS undergoes a series of modification reactions catalyzed by at least four families of sulfotransferases and one epimerase. More...
hsa01100	Metabolic pathways	237

Genes shared at least 5 GO terms with XYLT1 (count: 0)

Genes shared at least 2 KEGG pathways with XYLT1 (count: 3)

Gene Symbol	Pathway Count	Pathway List
B3GAT1	3	Glycosaminoglycan biosynthesis - chondroitin sulfate; Glycosaminoglycan biosynthesis - heparan sulfate; Metabolic pathways;
B3GAT3	3	Glycosaminoglycan biosynthesis - chondroitin sulfate; Glycosaminoglycan biosynthesis - heparan sulfate; Metabolic pathways;
CHPF	2	Glycosaminoglycan biosynthesis - chondroitin sulfate; Metabolic pathways;

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Region: chr16:17196181..17564738 View in gBrowse