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POGLUT3 protein O-glucosyltransferase 3 [ Homo sapiens (human) ]

Gene ID: 143888, updated on 2-Nov-2024

Summary

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Official Symbol
POGLUT3provided by HGNC
Official Full Name
protein O-glucosyltransferase 3provided by HGNC
Primary source
HGNC:HGNC:28496
See related
Ensembl:ENSG00000178202 MIM:618503; AllianceGenome:HGNC:28496
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
KDELC2
Summary
Enables UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in protein O-linked glycosylation via serine. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in endometrium (RPKM 18.2), ovary (RPKM 17.7) and 25 other tissues See more
Orthologs
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Genomic context

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See POGLUT3 in Genome Data Viewer
Location:
11q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (108472116..108498384, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (108479598..108506085, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (108342843..108369111, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3877 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108047982 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108089151 Neighboring gene NANOG hESC enhancer GRCh37_chr11:108089784-108090285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5487 Neighboring gene MPRA-validated peak1449 silencer Neighboring gene MPRA-validated peak1450 silencer Neighboring gene nuclear protein, coactivator of histone transcription Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108140516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:108147863-108148662 Neighboring gene ATM serine/threonine kinase Neighboring gene MPRA-validated peak1451 silencer Neighboring gene chromosome 11 open reading frame 65 Neighboring gene MPRA-validated peak1452 silencer Neighboring gene MPRA-validated peak1453 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108273376 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108294773 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108301322 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108309656 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108323261 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108333620 Neighboring gene Sharpr-MPRA regulatory region 13200 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:108337475-108338327 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108344264 Neighboring gene uncharacterized LOC124902749 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108353409-108353587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3878 Neighboring gene uncharacterized LOC112267909 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108427339-108427512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5488 Neighboring gene exophilin 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3881 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:108487156-108488355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5491 Neighboring gene inversion(11)(p15q22) DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 recombination region Neighboring gene DEAD-box helicase 10 Neighboring gene ribosomal protein S2 pseudogene 39

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. 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
  2. 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
  3. TGFβ attenuates cartilage extracellular matrix degradation via enhancing FBXO6-mediated MMP14 ubiquitination. Wang G, et al. Ann Rheum Dis, 2020 Aug. PMID 32409323, Free PMC Article
  4. A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. Gordon DE, et al. Nature, 2020 Jul. PMID 32353859, Free PMC Article
  5. SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation. Shi R, et al. Cell Biosci, 2021 Jul 27. PMID 34315543, Free PMC Article

See all (35) 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.
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

  • MGC33424

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
is_active_in cellular_component ND
No biological Data available
more info
  
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein O-glucosyltransferase 3
Names
KDEL (Lys-Asp-Glu-Leu) containing 2
KDEL motif containing 2
KDEL motif-containing protein 2
protein O-xylosyltransferase POGLUT3
NP_001350431.1
NP_001350432.1
NP_714916.3
XP_011540923.1
XP_047282377.1
XP_047282378.1
XP_054223740.1
XP_054223741.1

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_001363502.2 → NP_001350431.1  protein O-glucosyltransferase 3 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AP005718
    UniProtKB/TrEMBL
    A0A9L9PX09
    Related
    ENSP00000516431.1, ENST00000706523.1
    Conserved Domains (2) summary
    pfam00630
    Location:27 → 131
    Filamin; Filamin/ABP280 repeat
    cl23835
    Location:228 → 347
    Glyco_transf_90; Glycosyl transferase family 90

  2. NM_001363503.2 → NP_001350432.1  protein O-glucosyltransferase 3 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AP005718
    UniProtKB/TrEMBL
    A0A9L9PY40
    Related
    ENSP00000516432.1, ENST00000706524.1
    Conserved Domains (2) summary
    pfam00630
    Location:27 → 131
    Filamin; Filamin/ABP280 repeat
    cl23835
    Location:151 → 450
    Glyco_transf_90; Glycosyl transferase family 90

  3. NM_153705.5 → NP_714916.3  protein O-glucosyltransferase 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_714916.3

    Status: VALIDATED

    Source sequence(s)
    AF533708, AI628702, BC036526
    Consensus CDS
    CCDS41711.1
    UniProtKB/Swiss-Prot
    Q6UWW2, Q6ZUM9, Q7Z4H8, Q8N7L8, Q8NE24
    Related
    ENSP00000315386.5, ENST00000323468.10
    Conserved Domains (3) summary
    smart00557
    Location:29 → 133
    IG_FLMN; Filamin-type immunoglobulin domains
    pfam00630
    Location:27 → 131
    Filamin; Filamin/ABP280 repeat
    cl23835
    Location:151 → 485
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    108472116..108498384 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426422.1 → XP_047282378.1  protein O-glucosyltransferase 3 isoform X3

  2. XM_011542621.3 → XP_011540923.1  protein O-glucosyltransferase 3 isoform X1

    UniProtKB/TrEMBL
    B2R8W4
    Conserved Domains (2) summary
    cl23835
    Location:137 → 471
    Glyco_transf_90; Glycosyl transferase family 90
    cl27659
    Location:45 → 119
    Filamin; Filamin/ABP280 repeat

  3. XM_047426421.1 → XP_047282377.1  protein O-glucosyltransferase 3 isoform X2

    Related
    ENSP00000413429.2, ENST00000434945.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    108479598..108506085 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367765.1 → XP_054223740.1  protein O-glucosyltransferase 3 isoform X1

  2. XM_054367766.1 → XP_054223741.1  protein O-glucosyltransferase 3 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z4H8.2 GenPept UniProtKB/Swiss-Prot:Q7Z4H8

Gene LinkOut

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