Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	152002
Gene name Gene Name - the full gene name approved by the HGNC.	Xyloside xylosyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	XXYLT1
Synonyms (NCBI Gene) Gene synonyms aliases	C3orf21
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q29

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	8982869
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	22117070
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	IBA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	IDA	8982869, 22117070
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030145	Function	Manganese ion binding	IDA	8982869
GO:0030145	Function	Manganese ion binding	IEA
GO:0035252	Function	UDP-xylosyltransferase activity	IDA	8982869
GO:0035252	Function	UDP-xylosyltransferase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0140560	Function	Xylosyl alpha-1,3-xylosyltransferase activity	IBA
GO:0140560	Function	Xylosyl alpha-1,3-xylosyltransferase activity	IDA	22117070, 30169771
GO:0140560	Function	Xylosyl alpha-1,3-xylosyltransferase activity	IEA

MIM	HGNC	e!Ensembl
614552	26639	ENSG00000173950

Protein

UniProt ID

Q8NBI6

Protein name

Xyloside xylosyltransferase 1 (EC 2.4.2.62) (UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase)

Protein function

Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose (PubMed:22117070, PubMed:8982869).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01501	Glyco_transf_8	113 → 369	Glycosyl transferase family 8	Family

Sequence

MGLLRGGLPCARAMARLGAVRSHYCALLLAAALAVCAFYYLGSGRETFSSATKRLKEARA
GAPAAPSPPALELARGSVAPAPGAKAKSLEGGGAGPVDYHLLMMFTKAEHNAALQAKARV
ALRSLLRLAKFEAHEVLNLHFVSEEASREVAKGLLRELLPPAAGFKCKVIFHDVAVLTDK
LFPIVEAMQKHFSAGLGTYYSDSIFFLSVAMHQIMPKEILQIIQLDLDLKFKTNIRELFE
EFDSFLPGAIIGIAREMQPVYRHTFWQFRHENPQTRVGGPPPEGLPGFNSGVMLLNLEAM
RQSPLYSRLLEPAQVQQLADKYHFRGHLGDQDFFTMIGMEHPKLFHVLDCTWNRQLCTWW
RDHGYSDVFEAYFRCEGHVKIYHGNCNTPIPED

Sequence length

393

Interactions

View interactions

	KEGG
	Other types of O-glycan biosynthesis

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	28422717, 33429795
Lung Neoplasms	Associate	28422717
Neoplasms	Inhibit	33429795
Obesity	Associate	29145611
Osteoporosis	Associate	29145611
Tobacco Use Disorder	Associate	28422717
Urinary Bladder Neoplasms	Associate	40312703

XXYLT1 (xyloside xylosyltransferase 1)