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XYLT1 xylosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 64131, updated on 11-Sep-2019

Summary

Official Symbol
XYLT1provided by HGNC
Official Full Name
xylosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:15516
See related
Ensembl:ENSG00000103489 MIM:608124
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
XT1; XTI; XT-I; DBQD2; XYLTI; PXYLT1; xylT-I
Summary
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 gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]
Expression
Ubiquitous expression in brain (RPKM 5.2), placenta (RPKM 4.3) and 24 other tissues See more
Orthologs

Genomic context

See XYLT1 in Genome Data Viewer
Location:
16p12.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (17101769..17470960, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (17196181..17564738, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 79/80 Neighboring gene transcription elongation regulator 1 pseudogene Neighboring gene uncharacterized LOC102723692 Neighboring gene uncharacterized LOC107987234 Neighboring gene uncharacterized LOC105371106 Neighboring gene uncharacterized LOC107984893 Neighboring gene ribosomal protein L7 pseudogene 47

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif modulates the expression of xylosyltransferase I (XYLT1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein xylosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein xylosyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
chondroitin sulfate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
chondroitin sulfate proteoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
heparan sulfate proteoglycan biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
heparan sulfate proteoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
ossification involved in bone maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
proteoglycan biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi cis cisterna ISS
Inferred from Sequence or Structural Similarity
more info
 
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
xylosyltransferase 1
Names
beta-D-xylosyltransferase 1
peptide O-xylosyltransferase 1
xylosyltransferase I
xylosyltransferase iota
NP_071449.1
XP_016879028.1
XP_016879029.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015843.2 RefSeqGene

    Range
    4922..374113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022166.4NP_071449.1  xylosyltransferase 1 precursor

    See identical proteins and their annotated locations for NP_071449.1

    Status: REVIEWED

    Source sequence(s)
    AC009152, AC099494, AC109446, AI524006, AJ539163
    Consensus CDS
    CCDS10569.1
    UniProtKB/Swiss-Prot
    Q86Y38
    Related
    ENSP00000261381.6, ENST00000261381.6
    Conserved Domains (2) summary
    pfam02485
    Location:328580
    Branch; Core-2/I-Branching enzyme
    pfam12529
    Location:613793
    Xylo_C; Xylosyltransferase C terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    17101769..17470960 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023540.2XP_016879029.1  xylosyltransferase 1 isoform X2

  2. XM_017023539.2XP_016879028.1  xylosyltransferase 1 isoform X1

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_019805500.1 Reference GRCh38.p13 PATCHES

    Range
    103030..472459 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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