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GXYLT1 glucoside xylosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 283464, updated on 3-Nov-2024

Summary

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Official Symbol
GXYLT1provided by HGNC
Official Full Name
glucoside xylosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:27482
See related
Ensembl:ENSG00000151233 MIM:613321; AllianceGenome:HGNC:27482
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GLT8D3
Summary
GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]
Expression
Ubiquitous expression in placenta (RPKM 5.6), thyroid (RPKM 5.4) and 25 other tissues See more
Orthologs
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Genomic context

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See GXYLT1 in Genome Data Viewer
Location:
12q12
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (42081845..42144874, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (42039739..42102776, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (42475647..42538676, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 5 pseudogene Neighboring gene uncharacterized LOC105378247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4356 Neighboring gene ATP synthase subunit C lysine N-methyltransferase-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6209 Neighboring gene MPRA-validated peak1683 silencer Neighboring gene YY1 associated factor 2 Neighboring gene MPRA-validated peak1686 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:42631341-42631842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4362 Neighboring gene uncharacterized LOC124902920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4363

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway. Peng L, et al. Cell Death Dis, 2022 Apr 22. PMID 35459861, Free PMC Article
  2. Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease. Harris RA, et al. J Pediatr Gastroenterol Nutr, 2023 Sep 1. PMID 37347142, Free PMC Article
  3. Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats. Sethi MK, et al. J Biol Chem, 2010 Jan 15. PMID 19940119, Free PMC Article
  4. Sensitized genetic backgrounds reveal differential roles for EGF repeat xylosyltransferases in Drosophila Notch signaling. Pandey A, et al. Glycobiology, 2018 Nov 1. PMID 30169771, Free PMC Article
  5. Diversity of oligosaccharide structures on the envelope glycoprotein gp 120 of human immunodeficiency virus 1 from the lymphoblastoid cell line H9. Presence of complex-type oligosaccharides with bisecting N-acetylglucosamine residues. Mizuochi T, et al. J Biol Chem, 1990 May 25. PMID 2341393

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease.
    Title: Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease.
  2. A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.
    Title: A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.
  3. We have identified two enzymes of the human glycosyltransferase 8 family, now named GXYLT1 and GXYLT2 (glucoside xylosyltransferase), as UDP-d-xylose:beta-d-glucoside alpha1,3-d-xylosyltransferases adding the first xylose.
    Title: Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ43151

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables UDP-D-xylose:beta-D-glucoside alpha-1,3-D-xylosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables UDP-xylosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables UDP-xylosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in O-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in O-glycan processing IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
glucoside xylosyltransferase 1
Names
glycosyltransferase 8 domain containing 3
glycosyltransferase 8 domain-containing protein 3
NP_001093120.1
NP_775872.1
XP_016874700.1
XP_054227823.1

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.

mRNA and Protein(s)

  1. NM_001099650.2 → NP_001093120.1  glucoside xylosyltransferase 1 isoform 2

    See identical proteins and their annotated locations for NP_001093120.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' region, compared to variant 1. The resulting isoform (2) lacks an internal segment in the N-terminal region, compared to isoform 1.
    Source sequence(s)
    AC023513, AL832209, BC015597, BC030023, BC039145
    Consensus CDS
    CCDS41771.1
    UniProtKB/Swiss-Prot
    Q4G148
    Related
    ENSP00000280876.6, ENST00000280876.6
    Conserved Domains (2) summary
    cd06430
    Location:85 → 386
    GT8_like_2; GT8_like_2 represents a subfamily of GT8 with unknown function
    COG1442
    Location:153 → 314
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

  2. NM_173601.2 → NP_775872.1  glucoside xylosyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_775872.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC023513, AL832209, BC015597, BC030023, BC039145
    Consensus CDS
    CCDS41772.1
    UniProtKB/Swiss-Prot
    B3KWJ2, Q4G148, Q8IXV1, Q96BH4
    Related
    ENSP00000381666.3, ENST00000398675.8
    Conserved Domains (2) summary
    cd06430
    Location:116 → 417
    GT8_like_2; GT8_like_2 represents a subfamily of GT8 with unknown function
    COG1442
    Location:184 → 345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    42081845..42144874 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019211.1 → XP_016874700.1  glucoside xylosyltransferase 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    42039739..42102776 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371848.1 → XP_054227823.1  glucoside xylosyltransferase 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4G148.2 GenPept UniProtKB/Swiss-Prot:Q4G148

Gene LinkOut

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