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

    Gene ID: 143888, updated on 17-Jun-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, Apr 2022]
    Expression
    Ubiquitous expression in endometrium (RPKM 18.2), ovary (RPKM 17.7) and 25 other tissues See more
    Orthologs
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (108472116..108498384, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (108479598..108506085, complement)
    105.20220307 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
    • 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 (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.
    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_2023_10

    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

      UniProtKB/TrEMBL
      B2R8W4
      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

      UniProtKB/TrEMBL
      B2R8W4

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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