Entity Details

Primary name XYLT1
Entity type gene
Source Source Link

Details

PrimaryID64131
RefseqGeneNG_015843
SymbolXYLT1
Namexylosyltransferase 1
Chromosome16
Location16p12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-04-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsXYLT1_HUMAN

GO terms

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GOName
GO:0000137 Golgi cis cisterna
GO:0000139 Golgi membrane
GO:0005615 extracellular space
GO:0006024 glycosaminoglycan biosynthetic process
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0016021 integral component of membrane
GO:0030158 protein xylosyltransferase activity
GO:0030166 proteoglycan biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030206 chondroitin sulfate biosynthetic process
GO:0043931 ossification involved in bone maturation
GO:0046872 metal ion binding
GO:0048706 embryonic skeletal system development
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process

Diseases

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Disease IDSourceNameDescription
615777 OMIMDesbuquois dysplasia 2 (DBQD2)A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. The disease is caused by variants affecting the gene represented in this entry.
264800 OMIMPseudoxanthoma elasticum (PXE)A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. The gene represented in this entry acts as a disease modifier.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
XYLT1MYCBioGRID, IntAct21150319 details
XYLT1MEF2ABioGRID, MINT25609649 details
XYLT1ADH1CBioGRID, IntAct26186194 28514442 details
XYLT1VIRMABioGRID29507755 details