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    XYLT1 xylosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 64131, updated on 17-Feb-2024

    Summary

    Official Symbol
    XYLT1provided by HGNC
    Official Full Name
    xylosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:15516
    See related
    Ensembl:ENSG00000103489 MIM:608124; AllianceGenome:HGNC:15516
    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:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (17101769..17470960, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (17108779..17478203, complement)
    105.20220307 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 SPRING1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10500 Neighboring gene GATA motif-containing MPRA enhancer 79/80 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:17156208-17157407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10501 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:17176735-17177633 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:17177634-17178532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:17200215-17200782 Neighboring gene uncharacterized LOC102723692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10502 Neighboring gene MPRA-validated peak2513 silencer Neighboring gene TCERG1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:17360175-17361046 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:17390476-17390750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:17399758-17400258 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:17414499-17414998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:17424561-17425084 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:17439467-17439968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7236 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:17498817-17500016 Neighboring gene uncharacterized LOC124903654 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:17516896-17517632 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:17523609-17523772 Neighboring gene uncharacterized LOC107987234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:17564811-17565312 Neighboring gene uncharacterized LOC105371106 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:17591055-17591654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10513 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:17665142-17666341 Neighboring gene NANOG hESC enhancer GRCh37_chr16:17672718-17673219 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:17700860-17702059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:17838498-17839174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:17839175-17839850 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:17840527-17841202 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr16:17851169-17851784 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr16:17851785-17852400 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:17870498-17870998 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:17930405-17931604 Neighboring gene uncharacterized LOC107984893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10514 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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 

    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_047290414.1
    XP_054169595.1
    XP_054169596.1
    XP_054188407.1
    XP_054188408.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

      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, Q9H1B6
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047434458.1XP_047290414.1  xylosyltransferase 1 isoform X1

    2. XM_017023539.3XP_016879028.1  xylosyltransferase 1 isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_019805500.1 Reference GRCh38.p14 PATCHES

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

    mRNA and Protein(s)

    1. XM_054332432.1XP_054188407.1  xylosyltransferase 1 isoform X1

    2. XM_054332433.1XP_054188408.1  xylosyltransferase 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      17108779..17478203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313620.1XP_054169595.1  xylosyltransferase 1 isoform X1

    2. XM_054313621.1XP_054169596.1  xylosyltransferase 1 isoform X2