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    XYLT1 xylosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 64131, updated on 19-Jul-2021

    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
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    Genomic context

    See XYLT1 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (17101769..17470960, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (17195626..17564817, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 79/80 Neighboring gene uncharacterized LOC102723692 Neighboring gene TCERG1 pseudogene 2 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein xylosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein xylosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein xylosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi cis cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

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    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, ENST00000261381.7
      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 Updated Annotation Release 109.20210514

    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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