Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
64131
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Xylosyltransferase 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
XYLT1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
DBQD2 |
Chromosome
Chromosome number
|
16 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
16p12.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
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
Accession |
ID |
Position in sequence |
Description |
Type |
PF02485
|
Branch |
328 → 583 |
Core-2/I-Branching enzyme |
Family |
PF12529
|
Xylo_C |
613 → 793 |
Xylosyltransferase C terminal |
Family |
|
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 |
|
Sequence length |
959 |
Interactions |
View interactions
|