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XYLT1 xylosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 64131, updated on 7-Sep-2023

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_03 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (17101769..17470960, complement)
RS_2023_03 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 GATA motif-containing MPRA enhancer 79/80 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:17156208-17157407 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 TCERG1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:17360175-17361046 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 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 uncharacterized LOC107987234 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 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 ribosomal protein L7 pseudogene 47

Genomic regions, transcripts, and products

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
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 

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)

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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, 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_03

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