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xylosyltransferase 1

Summary

Gene Symbol

XYLT1

Aliases

PXYLT1
XT-I
protein xylosyltransferase 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

64131

GGDB ID

gg169

HGNC

15516

mRNA

NM_022166

map

16p12

Protein

NP_071449

OMIM

608124

KEGG Gene ID

hsa:64131

PubChem

64131

Alliance of Genome Resources

HGNC:15516

Annotation

Keyword

3D-structure
Direct protein sequencing
Disease variant
Disulfide bond
Dwarfism
Glycoprotein
Glycosyltransferase
Golgi apparatus
Metal-binding
Reference proteome
Secreted
Signal-anchor
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q86Y38	Peptide O-xylosyltransferase 1 Xylosyltransferase I

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
embryonic skeletal system development	ISS
chondroitin sulfate biosynthetic process	IEA
proteoglycan biosynthetic process	IDA	11087729
ossification involved in bone maturation	ISS
heparan sulfate proteoglycan biosynthetic process	IBA IEA IMP	17189265

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

multicellular organismal process [inference]

ossification [inference]

ossification involved in bone maturation

developmental process [inference]

anatomical structure development [inference]

system development [inference]

skeletal system development [inference]

embryonic skeletal system development

Displaying **all 3** entries
GO Term	Evidence Code	PMID
Golgi cis cisterna	ISS
extracellular space	IDA	11087729
Golgi membrane	IDA TAS	16571645

GO Hierarchy

cellular component

cellular anatomical entity [inference]

extracellular space

membrane [inference]

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

organelle subcompartment [inference]

Golgi apparatus subcompartment [inference]

Golgi cisterna [inference]

Golgi cis cisterna

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein xylosyltransferase activity	IBA IDA TAS	11087729 11099377 17189265 29681470
metal ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

UDP-xylosyltransferase activity [inference]

protein xylosyltransferase activity

pentosyltransferase activity [inference]

xylosyltransferase activity [inference]

UDP-xylosyltransferase activity [inference]

protein xylosyltransferase activity

catalytic activity, acting on a protein [inference]

protein xylosyltransferase activity

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

GlycoGene Database (GGDB)

GGDB ID

gg169

Gene Symbol

XYLT1

Orthologous Gene

Displaying **all 3** entries
Species	Protein	mRNA
Rattus norvegicus	XP_341913	XM_341912
Drosophila melanogaster	NP_647705	NM_139448
Mus musculus	NP_783576	NM_175645

KEGG BRITE Database

Orthology

K00771

Name

protein xylosyltransferase [EC:2.4.2.26]

References

11099377

Rhea

RHEA:50192

UDP-α-D-xylose

H⁺ + UDP

Enzyme

2.4.2.26

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of **106** in total

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DO ID	Disease Name	Source
DOID:10763	hypertension	DisGeNET
DOID:0050591	tooth agenesis	DisGeNET
DOID:0050693	Brooke-Spiegler syndrome	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060462	Desbuquois dysplasia	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060467	humeroradial synostosis	DisGeNET
DOID:0060549	Barber-Say syndrome	DisGeNET
DOID:0060870	isolated growth hormone deficiency	DisGeNET
DOID:0110213	isolated cleft palate	DisGeNET
DOID:0110741	type 1 diabetes mellitus 2	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **106** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000252	Microcephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000311	Round face
HP:0000343	Long philtrum
HP:0000368	Low-set, posteriorly rotated ears
HP:0000463	Anteverted nares

Displaying **all 4** entries
Disease ID	Disease Name
ORPHA:370930	XYLT1-congenital disorder of glycosylation
ORPHA:1425	Desbuquois dysplasia
OMIM:615777	Desbuquois dysplasia 2
OMIM:264800	autosomal recessive inherited pseudoxanthoma elasticum

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 36 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	190099	WB:WBGene00005024
Drosophila melanogaster	38288	FB:FBgn0015360
Ciona intestinalis	619275		CIOIN06429
Danio rerio	560951	ZFIN:ZDB-GENE-111017-2
Xenopus laevis	444363	Xenbase:XB-GENE-949402
Xenopus laevis	108703114	Xenbase:XB-GENE-17343461
Xenopus tropicalis	100145490	Xenbase:XB-GENE-949399
Callithrix jacchus	100404925		CALJA08203
Cercocebus atys	105586860		CERAT31986
Macaca mulatta	718187		MACMU27524

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements