XXYLT1 (xyloside xylosyltransferase 1)

Gene

• Entrez ID: 152002
• Gene name: Xyloside xylosyltransferase 1
• Gene symbol: XXYLT1
• Synonyms (NCBI Gene): C3orf21
• Chromosome: 3
• Chromosome location: 3q29

Gene ontology (GO)

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

Other IDs

• MIM: 614552
• HGNC: 26639
• e!Ensembl: 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

Pathways

KEGG:

Other types of O-glycan biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX REGIONAL PAIN SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22310392, 28422717		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	28422717		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28422717	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28422717		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28422717		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASDB_DG	20876614		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASCAT_DG	20876614		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22310392		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	29145611		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29145611	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29145611		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29145611	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40312703	Associate	★☆☆☆☆ Found in Text Mining only