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    POGLUT1 protein O-glucosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 56983, updated on 23-Nov-2023

    Summary

    Official Symbol
    POGLUT1provided by HGNC
    Official Full Name
    protein O-glucosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:22954
    See related
    Ensembl:ENSG00000163389 MIM:615618; AllianceGenome:HGNC:22954
    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
    Rumi; CLP46; MDSRP; C3orf9; KTELC1; LGMD2Z; MDS010; hCLP46; KDELCL1; LGMDR21
    Summary
    This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.1), appendix (RPKM 5.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See POGLUT1 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (119468963..119494708)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (122188674..122214425)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119187810..119213555)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 31 Neighboring gene uncharacterized LOC124906273 Neighboring gene transmembrane protein 39A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:119187474-119187974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20304 Neighboring gene MPRA-validated peak4782 silencer Neighboring gene translocase of inner mitochondrial membrane domain containing 1 Neighboring gene CSRP2 pseudogene 1 Neighboring gene CD80 molecule

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive limb-girdle muscular dystrophy type 2R1
    MedGen: C4310660 OMIM: 617232 GeneReviews: Not available
    Compare labs
    Dowling-Degos disease 4
    MedGen: C3810313 OMIM: 615696 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC32995

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables UDP-glucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables UDP-glucosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables UDP-xylosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables UDP-xylosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables glucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axial mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circulatory system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gastrulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in paraxial mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    involved_in regulation of gastrulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein O-glucosyltransferase 1
    Names
    9630046K23Rik
    CAP10-like 46 kDa protein
    KDELC family like 1
    KTEL (Lys-Tyr-Glu-Leu) containing 1
    KTEL motif-containing protein 1
    O-glucosyltransferase Rumi homolog
    hRumi
    myelodysplastic syndromes relative protein
    protein O-xylosyltransferase POGLUT1
    x 010 protein
    NP_689518.1
    XP_006713768.1
    XP_047304550.1
    XP_047304551.1
    XP_054203251.1
    XP_054203252.1
    XP_054203253.1
    XP_054203254.1

    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.

    Genomic

    1. NG_034115.1 RefSeqGene

      Range
      5026..30771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152305.3NP_689518.1  protein O-glucosyltransferase 1 precursor

      See identical proteins and their annotated locations for NP_689518.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and is protein coding.
      Source sequence(s)
      AY298903
      Consensus CDS
      CCDS2988.1
      UniProtKB/Swiss-Prot
      B2RD13, Q53GJ4, Q8N2T1, Q8NBL1
      Related
      ENSP00000295588.4, ENST00000295588.9
      Conserved Domains (1) summary
      pfam05686
      Location:49388
      Glyco_transf_90; Glycosyl transferase family 90

    RNA

    1. NR_024265.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because it is a nonsense-mediated mRNA decay (NMD) candidate when the 5'-most translation start codon is used, as in variant 1.
      Source sequence(s)
      AK295984, AY298903, CD517010

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      119468963..119494708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448595.1XP_047304551.1  protein O-glucosyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      B4DJ97
    2. XM_006713705.4XP_006713768.1  protein O-glucosyltransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_006713768.1

      UniProtKB/TrEMBL
      B4DJ97
      Conserved Domains (1) summary
      cl23835
      Location:1229
      Glyco_transf_90; Glycosyl transferase family 90
    3. XM_047448594.1XP_047304550.1  protein O-glucosyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      B4DJ97

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      122188674..122214425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347277.1XP_054203252.1  protein O-glucosyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      B4DJ97
    2. XM_054347278.1XP_054203253.1  protein O-glucosyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      B4DJ97
    3. XM_054347279.1XP_054203254.1  protein O-glucosyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      B4DJ97
    4. XM_054347276.1XP_054203251.1  protein O-glucosyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      B4DJ97