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FLASH GENE

Symbol

XYLT1

contributors: mct - updated : 24-01-2019

HGNC name	xylosyltransferase I
HGNC id	15516

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BSS Baratela-scott syndrome DSBQS2 Desbuquois dysplasia 2
Location	16p12.3      Physical location : 17.196.182 - 17.564.738
Synonym name	UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase 1
	peptide O-xylosyltransferase 1
	beta-D-xylosyltransferase 1
	xylosyltransferase iota
Synonym symbol(s)	XT1, XT-I, PXYLT1, XTI, XTI
EC.number	2.4.2.26

DNA

TYPE	functioning gene
STRUCTURE	368.56 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	binding site for transcription factors of the AP-1 family, which is essential for full promoter activity

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022166 12 - 9336 NP_071449 - 959 - 2009 19762916

EXPRESSION

Type	ubiquitous

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 mouth tongue     highly Endocrine neuroendocrine pituitary     highly Lymphoid/Immune spleen       highly Respiratory respiratory tract larynx     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	DXD motifs required for enzyme activity
	an heparin-binding site

HOMOLOGY

interspecies	homolog to Drosophila Gh03693
	homolog to C.elegans K07d4.7b

intraspecies

homolog to XYLT2

Homologene

FAMILY

glycosyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	initiating biosynthesis of chondroitin and heparan sulfate, heparin and dermatan sulfate
	initial enzyme involved in the biosynthesis of the glycosaminoglycan linker region in proteoglycans
	catalyses the transfer of xylose to specific serine residues in the core protein
	XYLT1, XYLT2 are xylosyltransferases with similar but not identical properties, pointing to their potential role in modulating the cellular proteoglycan pool
	diagnostic marker of an enhanced proteoglycan biosynthesis
	catalyzes the initial and rate-limiting step in the biosynthesis of glycosaminoglycans and proteoglycan
	XYLT1, and FAM20B function in cartilage matrix production and ultimately regulate the timing of skeletal development
	catalyzes the rate-limiting step in proteoglycan glycosylation
	XYLT1, XYLT2 catalyze the rate-limiting step in proteoglycan biosynthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

biosynthesis of glycosaminoglycan chain in proteoglycans

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DSBQS2 , BSS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in children during skeletal growth and tissue remodeling

Susceptibility

to severe pseudoxanthoma elasticum (PCE) to modification of blood pressure to abdominal aortic aneurysm (AAA)

Variant & Polymorphism other	polymorphisms increasing the severity of pseudoxanthoma elasticum
	T-allele of the polymorphism c.343G>T (p.A115S) was found to be significantly more frequent in AAA patients compared to the healthy control group

Candidate gene
Marker	marker for myofibroblast differentiation in skin fibrosis
Therapy target

ANIMAL & CELL MODELS