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GXYLT1 glucoside xylosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 283464, updated on 23-Nov-2021

Summary

Official Symbol
GXYLT1provided by HGNC
Official Full Name
glucoside xylosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:27482
See related
Ensembl:ENSG00000151233 MIM:613321
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

See GXYLT1 in Genome Data Viewer
Location:
12q12
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (42081845..42144874, complement)
105.20201022 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 protein FAM173B pseudogene Neighboring gene YY1 associated factor 2 Neighboring gene insulin like growth factor 2 mRNA binding protein 2 pseudogene

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
involved_in O-glycan processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_001099650.2NP_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:85386
    GT8_like_2; GT8_like_2 represents a subfamily of GT8 with unknown function
    COG1442
    Location:153314
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  2. NM_173601.2NP_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
    Q4G148
    Related
    ENSP00000381666.3, ENST00000398675.8
    Conserved Domains (2) summary
    cd06430
    Location:116417
    GT8_like_2; GT8_like_2 represents a subfamily of GT8 with unknown function
    COG1442
    Location:184345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

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