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

Gene ID: 79070, updated on 27-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
  • 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)

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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