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

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

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    NEW Try the new Transcript table

    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_001363502.2NP_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:27131
      Filamin; Filamin/ABP280 repeat
      cl23835
      Location:228347
      Glyco_transf_90; Glycosyl transferase family 90
    2. NM_001363503.2NP_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:27131
      Filamin; Filamin/ABP280 repeat
      cl23835
      Location:151450
      Glyco_transf_90; Glycosyl transferase family 90
    3. NM_153705.5NP_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:29133
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:27131
      Filamin; Filamin/ABP280 repeat
      cl23835
      Location:151485
      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_047426422.1XP_047282378.1  protein O-glucosyltransferase 3 isoform X3

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

      UniProtKB/TrEMBL
      B2R8W4
      Conserved Domains (2) summary
      cl23835
      Location:137471
      Glyco_transf_90; Glycosyl transferase family 90
      cl27659
      Location:45119
      Filamin; Filamin/ABP280 repeat
    3. XM_047426421.1XP_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_054367765.1XP_054223740.1  protein O-glucosyltransferase 3 isoform X1

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