Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
64131 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Xylosyltransferase 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
XYLT1 |
SynonymsGene synonyms aliases
|
DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I |
ChromosomeChromosome number
|
16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
16p12.3 |
SummarySummary 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 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs587777366 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs587777368 |
G>A,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant |
rs587777370 |
T>G |
Pathogenic |
Splice acceptor variant |
rs769391314 |
C>A,T |
Likely-pathogenic |
Genic downstream transcript variant, synonymous variant, stop gained, coding sequence variant, missense variant |
rs1323802111 |
GC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1567300982 |
C>T |
Pathogenic |
Splice acceptor variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
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Other IDsOther 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
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 |
|
Sequence |
|
Sequence length |
959 |
Interactions |
View interactions |