Gene
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
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
SNPs SNP 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051176 hsa-miR-16-5p CLASH 23622248
MIRT1497738 hsa-let-7a CLIP-seq
MIRT1497739 hsa-let-7b CLIP-seq
MIRT1497740 hsa-let-7c CLIP-seq
MIRT1497741 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000137 Component Golgi cis cisterna ISS
GO:0000139 Component Golgi membrane IDA 16571645
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608124 15516 ENSG00000103489
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
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
MVAAPCARRLARRSHSALLAALTVLLLQTLVVWNFSSLDSGAGERRGGAAVGGGEQPPPA
PAPRRERRDLPAEPAAARGGGGGGGGGGGGRGPQARARGGGPGEPRGQQPASRGALPARA
LDPHPSPLITLETQDGYFSHRPKEKVRTDSNNENSVPKDFENVDNSNFAPRTQKQKHQPE
LAKKPPSRQKELLKRKLEQQEKGKGHTFPGKGPGEVLPPGDRAAANSSHGKDVSRPPHAR
KTGGSSPETKYDQPPKCDISGKEAISALSRAKSKHCRQEIGETYCRHKLGLLMPEKVTRF
CPLEGKANKNVQWDEDSVEYMPANPVRIAFVLVVHGRASRQLQRMFKAIYHKDHFYYIHV
DKRSNYLHRQVLQVSRQYSNVRVTPWRMATIWGGASLLSTYLQSMRDLLEMTDWPWDFFI
NLSAADYPIRTNDQLVAFLSRYRDMNFLKSHGRDNARFIRKQGLDRLFLECDAHMWRLGD
RRIPEGIAVDGGSDWFLLNRRFVEYVTFSTDDLVTKMKQFYSYTLLPAESFFHTVLENSP
HCDTMVDNNLRITNWNRKLGCKCQYKHIVDWCGCSPNDFKPQD
FHRFQQTARPTFFARKF
EAVVNQEIIGQLDYYLYGNYPAGTPGLRSYWENVYDEPDGIHSLSDVTLTLYHSFARLGL
RRAETSLHTDGENSCRYYPMGHPASVHLYFLADRFQGFLIKHHATNLAVSKLETLETWVM
PKKVFKIASPPSDFGRLQFSEVGTDWDAKERLFRNFGGLLGPMDEPVGMQKWGKGPNVTV
TVIWVDPVNVIAA
TYDILIESTAEFTHYKPPLNLPLRPGVWTVKILHHWVPVAETKFLVA
PLTFSNRQPIKPEEALKLHNGPLRNAYMEQSFQSLNPVLSLPINPAQVEQARRNAASTGT
ALEGWLDSLVGGMWTAMDICATGPTACPVMQTCSQTAWSSFSPDPKSELGAVKPDGRLR
Sequence length 959
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways
  A tetrasaccharide linker sequence is required for GAG synthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Desbuquois Dysplasia desbuquois dysplasia 1, desbuquois dysplasia 2 rs1323802111, rs1567215600, rs1567215615, rs1567300982, rs587777366, rs587777368, rs587777369, rs587777370, rs1085307563 N/A
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.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Dyslexia Dyslexia N/A N/A GWAS
Erectile Dysfunction Erectile dysfunction N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 35081921
Blood Coagulation Disorders Associate 35005846
Blood Platelet Disorders Associate 35005846
Cardiomyopathy Dilated Stimulate 17635914
Cardiomyopathy Dilated Associate 19762916
Cartilage Diseases Associate 22479506
Chondrosarcoma Associate 19762916
Chronic Disease Associate 27773939
Desbuquois syndrome Associate 24581741, 30554721, 35081921, 37296099
Diabetes Mellitus Type 1 Associate 16164625