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    POGLUT2 protein O-glucosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 79070, updated on 15-Apr-2019

    Summary

    Official Symbol
    POGLUT2provided by HGNC
    Official Full Name
    protein O-glucosyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:19350
    See related
    Ensembl:ENSG00000134901 MIM:611613
    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
    EP58; ERp58; KDEL1; KDELC1
    Summary
    This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in placenta (RPKM 5.5), endometrium (RPKM 5.0) and 24 other tissues See more
    Orthologs

    Genomic context

    See POGLUT2 in Genome Data Viewer
    Location:
    13q33.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (102784281..102799054, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103436631..103451404, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 168 Neighboring gene uncharacterized LOC105370337 Neighboring gene testis expressed 30 Neighboring gene BIVM-ERCC5 readthrough Neighboring gene basic, immunoglobulin-like variable motif containing Neighboring gene RNY5 pseudogene 8 Neighboring gene ERCC excision repair 5, endonuclease

    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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC5302

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    UDP-glucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    UDP-xylosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein xylosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    protein O-linked glycosylation via serine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum lumen ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    protein O-glucosyltransferase 2; KDEL motif-containing protein 1
    Names
    ER protein 58
    KDEL (Lys-Asp-Glu-Leu) containing 1
    KDEL motif containing 1
    endoplasmic reticulum resident protein 58
    protein O-xylosyltransferase POGLUT2
    NP_001305661.1
    NP_076994.2
    XP_005254132.1

    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_001318732.1NP_001305661.1  protein O-glucosyltransferase 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the central region of the transcript and is inferred to initiate translation at an alternate start codon, compared to variant 1. Use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The inferred protein (isoform 2) has a distinct N-terminus, is shorter, and lacks a predicted signal peptide, compared to isoform 1.
      Source sequence(s)
      BC001297, BC051860, DB204842
      UniProtKB/Swiss-Prot
      Q6UW63
      Conserved Domains (1) summary
      cl23835
      Location:2265
      Glyco_transf_90; Glycosyl transferase family 90
    2. NM_024089.3NP_076994.2  protein O-glucosyltransferase 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_076994.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK225103, BC001297
      Consensus CDS
      CCDS9504.1
      UniProtKB/Swiss-Prot
      Q6UW63
      Related
      ENSP00000365172.4, ENST00000376004.5
      Conserved Domains (3) summary
      smart00557
      Location:29129
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:28127
      Filamin; Filamin/ABP280 repeat
      pfam05686
      Location:151484
      Glyco_transf_90; Glycosyl transferase family 90

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      102784281..102799054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254075.3XP_005254132.1  KDEL motif-containing protein 1 isoform X1

      Conserved Domains (3) summary
      smart00557
      Location:29129
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:28127
      Filamin; Filamin/ABP280 repeat
      cl23835
      Location:151461
      Glyco_transf_90; Glycosyl transferase family 90
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