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GXYLT2 glucoside xylosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 727936, updated on 5-Aug-2018

Summary

Official Symbol
GXYLT2provided by HGNC
Official Full Name
glucoside xylosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:33383
See related
Ensembl:ENSG00000172986 MIM:613322; Vega:OTTHUMG00000158815
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
GLT8D4
Summary
The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]
Expression
Broad expression in ovary (RPKM 6.1), gall bladder (RPKM 5.3) and 22 other tissues See more
Orthologs

Genomic context

See GXYLT2 in Genome Data Viewer
Location:
3p13
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (72848522..72976917)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (72937385..73024525)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986097 Neighboring gene SHQ1, H/ACA ribonucleoprotein assembly factor Neighboring gene U2 snRNP-associated SURP motif-containing protein pseudogene Neighboring gene lysosomal protein transmembrane 4 beta pseudogene 2 Neighboring gene proteasome 26S subunit, non-ATPase, 12 pseudogene Neighboring gene ferritin heavy chain 1 pseudogene 23 Neighboring gene protein phosphatase 4 regulatory subunit 2 Neighboring gene RNA, U7 small nuclear 19 pseudogene Neighboring gene endogenous Bornavirus like nucleoprotein 2

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 Jun 15 11:32:44 2016

Pathways from BioSystems

  • Other types of O-glycan biosynthesis, organism-specific biosystem (from KEGG)
    Other types of O-glycan biosynthesis, organism-specific biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
  • Other types of O-glycan biosynthesis, conserved biosystem (from KEGG)
    Other types of O-glycan biosynthesis, conserved biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-xylosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
glucoside xylosyltransferase 2
Names
glycosyltransferase 8 domain containing 4
glycosyltransferase 8 domain-containing protein 4
NP_001073862.1
XP_011532369.1
XP_011532370.1
XP_016862612.1
XP_016862613.1

NCBI Reference Sequences (RefSeq)

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_001080393.1NP_001073862.1  glucoside xylosyltransferase 2 precursor

    See identical proteins and their annotated locations for NP_001073862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer, protein-coding transcript.
    Source sequence(s)
    AC098481, AC114876
    Consensus CDS
    CCDS46870.1
    UniProtKB/Swiss-Prot
    A0PJZ3
    Related
    ENSP00000374268.4, OTTHUMP00000213540, ENST00000389617.8, OTTHUMT00000352318
    Conserved Domains (1) summary
    cd06430
    Location:110413
    GT8_like_2; GT8_like_2 represents a subfamily of GT8 with unknown function

RNA

  1. NR_138564.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC098481, AC114876

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    72848522..72976917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534068.2XP_011532370.1  glucoside xylosyltransferase 2 isoform X2

    See identical proteins and their annotated locations for XP_011532370.1

    UniProtKB/Swiss-Prot
    A0PJZ3
    Conserved Domains (1) summary
    cl11394
    Location:1287
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  2. XM_017007124.2XP_016862613.1  glucoside xylosyltransferase 2 isoform X4

  3. XM_017007123.2XP_016862612.1  glucoside xylosyltransferase 2 isoform X3

  4. XM_011534067.3XP_011532369.1  glucoside xylosyltransferase 2 isoform X1

    See identical proteins and their annotated locations for XP_011532369.1

    Conserved Domains (2) summary
    cd06430
    Location:31334
    GT8_like_2; GT8_like_2 represents a subfamily of GT8 with unknown function
    COG1442
    Location:47316
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
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