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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 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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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