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

Gene ID: 224143, updated on 9-May-2024

Summary

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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
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Jagged1 heterozygosity in mice results in a congenital cholangiopathy which is reversed by concomitant deletion of one copy of Poglut1 (Rumi). Thakurdas SM, et al. Hepatology, 2016 Feb. PMID 26235536, Free PMC Article
  2. Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase. Takeuchi H, et al. Proc Natl Acad Sci U S A, 2011 Oct 4. PMID 21949356, Free PMC Article
  3. Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi. Fernandez-Valdivia R, et al. Development, 2011 May. PMID 21490058, Free PMC Article
  4. A phenotype-based screen for embryonic lethal mutations in the mouse. Kasarskis A, et al. Proc Natl Acad Sci U S A, 1998 Jun 23. PMID 9636176, Free PMC Article
  5. Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2. Ramkumar N, et al. PLoS Genet, 2015 Oct. PMID 26496195, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ASO silencing of a glycosyltransferase, Poglut1 , improves the liver phenotypes in mouse models of Alagille syndrome.
    Title: ASO silencing of a glycosyltransferase, Poglut1 , improves the liver phenotypes in mouse models of Alagille syndrome.
  2. Removing one copy of Rumi suppresses the Jag1(+/-) bile duct phenotype, indicating that Rumi opposes JAG1 function in the liver
    Title: Jagged1 heterozygosity in mice results in a congenital cholangiopathy which is reversed by concomitant deletion of one copy of Poglut1 (Rumi).
  3. The data demonstrate that CRUMBS2 is the target of POGLUT1 for the gastrulation epithelial-to-mesenchymal transitions (EMT) and that all activity of CRUMBS2 depends on modification by POGLUT1
    Title: Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2.
  4. Rumi(-/-) embryos die before embryonic day 9.5 with posterior axis truncation and severe defects in neural tube development, somitogenesis, cardiogenesis and vascular remodeling.
    Title: Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi.
Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

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

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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 glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
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 
acts_upstream_of_or_within gastrulation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
  
involved_in muscle tissue development ISO
Inferred from Sequence Orthology
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
  
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 TAS
Traceable Author Statement
more info
  

General protein information

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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)

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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_001300827.1 → NP_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:2 → 313
    Glyco_transf_90; Glycosyl transferase family 90

  2. NM_172380.4 → NP_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:49 → 388
    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_030249090.2 → XP_030104950.1  protein O-glucosyltransferase 1 isoform X2

    Conserved Domains (1) summary
    cl23835
    Location:58 → 212
    Glyco_transf_90; Glycosyl transferase family 90

  2. XM_030249089.2 → XP_030104949.1  protein O-glucosyltransferase 1 isoform X1

    Conserved Domains (1) summary
    cl23835
    Location:95 → 236
    Glyco_transf_90; Glycosyl transferase family 90

RNA

  1. XR_003951782.1 RNA Sequence

  2. XR_003951783.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BYB9.2 GenPept UniProtKB/Swiss-Prot:Q8BYB9

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