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    Poglut1 protein O-glucosyltransferase 1 [ Mus musculus (house mouse) ]

    Gene ID: 224143, updated on 28-Oct-2024

    Summary

    Official Symbol
    Poglut1provided by MGI
    Official Full Name
    protein O-glucosyltransferase 1provided by MGI
    Primary source
    MGI:MGI:2444232
    See related
    Ensembl:ENSMUSG00000034064 AllianceGenome:MGI:2444232
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Rumi; wsnp; Clp46; Ktelc1; 9630046K23Rik
    Summary
    This gene encodes a protein that can catalyze transfer of either UDP-glucose or UDP-xylose to epidermal growth factor (EGF) repeats, such as those found in Notch. Loss of this gene product results in embryonic lethality. Embryos have neural plate defects, heart defects, and truncations of their posterior axis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 15.8), CNS E11.5 (RPKM 15.3) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Poglut1 in Genome Data Viewer
    Location:
    16 B4; 16 26.86 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (38345420..38370619, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (38525058..38550257, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene CD80 antigen Neighboring gene creatine kinase pseudogene 3 Neighboring gene translocase of inner mitochondrial membrane domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_40830 Neighboring gene ubiquitin-like, containing PHD and RING finger domains, 1 pseudogene Neighboring gene predicted gene, 53953 Neighboring gene STARR-seq mESC enhancer starr_40832 Neighboring gene transmembrane protein 39a Neighboring gene STARR-seq mESC enhancer starr_40833 Neighboring gene Rho GTPase activating protein 31 Neighboring gene predicted gene, 36482

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    wing-shaped neural plate
    GeneReviews: Not available
    wsnp
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (1) 
    • Gene trapped (2) 
    • Targeted (4)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    protein O-glucosyltransferase 1
    Names
    CAP10-like 46 kDa protein
    KTEL (Lys-Tyr-Glu-Leu) containing 1
    KTEL motif-containing protein 1
    O-glucosyltransferase Rumi homolog
    protein O-xylosyltransferase POGLUT1
    wing-shaped neural plate protein
    NP_001287756.1
    NP_759012.1
    XP_030104949.1
    XP_030104950.1

    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_001300827.1NP_001287756.1  protein O-glucosyltransferase 1 isoform 2

      See identical proteins and their annotated locations for NP_001287756.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate splice site in the 5' UTR, resulting in the use of a downstream translation start site, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC209577, AK045278
      UniProtKB/TrEMBL
      Q8BLG5
      Related
      ENSMUST00000153187.8
      Conserved Domains (1) summary
      cl23835
      Location:2313
      Glyco_transf_90; Glycosyl transferase family 90
    2. NM_172380.4NP_759012.1  protein O-glucosyltransferase 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_759012.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC209577, AK036224, AK079886, CB249259
      Consensus CDS
      CCDS28170.1
      UniProtKB/Swiss-Prot
      Q8BYB9, Q8R0H7
      Related
      ENSMUSP00000038166.7, ENSMUST00000036210.7
      Conserved Domains (1) summary
      pfam05686
      Location:49388
      Glyco_transf_90; Glycosyl transferase family 90

    RNA

    1. NR_153380.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC209577

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      38345420..38370619 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249090.2XP_030104950.1  protein O-glucosyltransferase 1 isoform X2

      Conserved Domains (1) summary
      cl23835
      Location:58212
      Glyco_transf_90; Glycosyl transferase family 90
    2. XM_030249089.2XP_030104949.1  protein O-glucosyltransferase 1 isoform X1

      Conserved Domains (1) summary
      cl23835
      Location:95236
      Glyco_transf_90; Glycosyl transferase family 90

    RNA

    1. XR_003951782.1 RNA Sequence

    2. XR_003951783.1 RNA Sequence