XYLT1 (xylosyltransferase 1)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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64131 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Xylosyltransferase 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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XYLT1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I |
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Chromosome
Chromosome number
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16 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16p12.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this g |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | ||||||||||||||||
| UniProt ID | Q86Y38 | |||||||||||||||
| Protein name | Xylosyltransferase 1 (EC 2.4.2.26) (Peptide O-xylosyltransferase 1) (Xylosyltransferase I) (XT-I) (XylT-I) | |||||||||||||||
| Protein function | Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:2 | |||||||||||||||
| PDB | 6EJ7 , 6EJ8 , 6EJ9 , 6EJA , 6EJB , 6EJC , 6EJD , 6EJE , 6FOA | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle. {ECO:0000269|PubMed:11099377}. | |||||||||||||||
| Sequence |
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| Sequence length | 959 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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