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

    Gene ID: 79070, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:19350
    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
    mouse all
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    Genomic context

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    See POGLUT2 in Genome Data Viewer
    Location:
    13q33.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (102784281..102798976, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (102002466..102017152, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103436631..103451326, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 168 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:103407292-103407513 Neighboring gene uncharacterized LOC105370337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:103425891-103426568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:103426569-103427246 Neighboring gene testis expressed 30 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5486 Neighboring gene BIVM-ERCC5 readthrough Neighboring gene basic, immunoglobulin-like variable motif containing Neighboring gene NANOG hESC enhancer GRCh37_chr13:103478160-103478661 Neighboring gene RNY5 pseudogene 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:103485696-103485895 Neighboring gene H3K27ac hESC enhancers GRCh37_chr13:103497312-103498136 and GRCh37_chr13:103498137-103498959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5487 Neighboring gene ERCC excision repair 5, endonuclease Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:103518038-103519237

    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. Linkage disequilibrium analysis in the LOC93081-KDELC1-BIVM region on 13q in bipolar disorder. Ferraren DO, et al. Am J Med Genet B Neuropsychiatr Genet, 2005 Feb 5. PMID 15635705
    2. Human colorectal cancer antigen GA733-2-Fc fused to endoplasmic reticulum retention motif KDEL enhances its immunotherapeutic effects. Fu YY, et al. J Cancer Res Ther, 2018 Sep. PMID 30249898
    3. Identification of a novel mammalian endoplasmic reticulum-resident KDEL protein using an EST database motif search. Kimata Y, et al. Gene, 2000 Dec 31. PMID 11167020
    4. POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1. Williamson DB, et al. J Biol Chem, 2021 Sep. PMID 34411563, Free PMC Article
    5. Two novel protein O-glucosyltransferases that modify sites distinct from POGLUT1 and affect Notch trafficking and signaling. Takeuchi H, et al. Proc Natl Acad Sci U S A, 2018 Sep 4. PMID 30127001, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1.
      Title: POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1.
    2. Our results suggest that GA733-2-Fc conjugated to ER-retention motif KDEL is a more efficient antigen to prevent tumor growth induced by colorectal carcinoma and minimize an allergic response.
      Title: Human colorectal cancer antigen GA733-2-Fc fused to endoplasmic reticulum retention motif KDEL enhances its immunotherapeutic effects.
    3. This paper reports data on mouse Kdelc1
      Title: Identification of a novel mammalian endoplasmic reticulum-resident KDEL protein using an EST database motif search.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC5302

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables EGF-domain serine glucosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables EGF-domain serine xylosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UDP-glucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables UDP-xylosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein O-linked glycosylation via serine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein O-linked glycosylation via serine IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum lumen ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein O-glucosyltransferase 2
    Names
    ER protein 58
    KDEL (Lys-Asp-Glu-Leu) containing 1
    KDEL motif containing 1
    KDEL motif-containing protein 1
    endoplasmic reticulum resident protein 58
    protein O-xylosyltransferase POGLUT2
    NP_001305661.1
    NP_076994.2
    XP_005254132.1
    XP_047286560.1
    XP_054230924.1
    XP_054230925.1

    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_001318732.2 → NP_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:2 → 265
      Glyco_transf_90; Glycosyl transferase family 90

    2. NM_024089.3 → NP_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
      Q53HL3, Q6UW63, Q9BVD2
      UniProtKB/TrEMBL
      A0A9L9PY35
      Related
      ENSP00000365172.4, ENST00000376004.5
      Conserved Domains (3) summary
      smart00557
      Location:29 → 129
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:28 → 127
      Filamin; Filamin/ABP280 repeat
      pfam05686
      Location:151 → 484
      Glyco_transf_90; Glycosyl transferase family 90

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      102784281..102798976 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254075.4 → XP_005254132.1  protein O-glucosyltransferase 2 isoform X1

      UniProtKB/TrEMBL
      A0A9L9PXM5, A0A9L9PY35
      Related
      ENSP00000516430.1, ENST00000706521.1
      Conserved Domains (2) summary
      smart00557
      Location:29 → 129
      IG_FLMN; Filamin-type immunoglobulin domains
      cl23835
      Location:151 → 461
      Glyco_transf_90; Glycosyl transferase family 90

    2. XM_047430604.1 → XP_047286560.1  protein O-glucosyltransferase 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      102002466..102017152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374949.1 → XP_054230924.1  protein O-glucosyltransferase 2 isoform X1

      UniProtKB/TrEMBL
      A0A9L9PXM5

    2. XM_054374950.1 → XP_054230925.1  protein O-glucosyltransferase 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UW63.1 GenPept UniProtKB/Swiss-Prot:Q6UW63

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