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    rumi rumi [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 326122, updated on 9-Dec-2024

    Summary

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    Official Symbol
    rumiprovided by FlyBase
    Official Full Name
    rumiprovided by FlyBase
    Primary source
    FLYBASE:FBgn0086253
    Locus tag
    Dmel_CG31152
    See related
    AllianceGenome:FB:FBgn0086253
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG17138; CG31152; Dmel\CG31152; dRumi; Poglut1; Rumi
    Summary
    Enables EGF-domain serine glucosyltransferase activity and EGF-domain serine xylosyltransferase activity. Involved in several processes, including protein O-linked glycosylation via serine; regulation of Notch signaling pathway; and rhabdomere development. Located in endoplasmic reticulum lumen. Is expressed in adult head and organism. Used to study autosomal recessive limb-girdle muscular dystrophy. Human ortholog(s) of this gene implicated in Dowling-Degos disease and autosomal recessive limb-girdle muscular dystrophy type 2Z. Orthologous to human POGLUT1 (protein O-glucosyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See rumi in Genome Data Viewer
    Location:
    94C4-94C4; 3-76 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (22749014..22750597, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (18574736..18576319, complement)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene vreteno Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene Heterochromatin Protein 1c Neighboring gene Ubiquitin-specific protease 12/46 Neighboring gene uncharacterized protein Neighboring gene Neprilysin-like 13 Neighboring gene Neprilysin-like 14

    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. Structural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations. Yu H, et al. Nat Chem Biol, 2016 Sep. PMID 27428513, Free PMC Article
    2. POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Servián-Morilla E, et al. Acta Neuropathol, 2020 Mar. PMID 31897643, Free PMC Article
    3. Molecular cloning of a xylosyltransferase that transfers the second xylose to O-glucosylated epidermal growth factor repeats of notch. Sethi MK, et al. J Biol Chem, 2012 Jan 20. PMID 22117070, Free PMC Article
    4. Meeting Between Rumi and Shams in Notch Signaling; Implications for Pain Management: A Narrative Review. Rajaei S, et al. Anesth Pain Med, 2019 Feb. PMID 30881911, Free PMC Article
    5. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. Servián-Morilla E, et al. EMBO Mol Med, 2016 Nov. PMID 27807076, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The study suggests that loss of Rumi activity may underlie these diseases, and the mechanistic insights may facilitate the development of modulators of Notch signaling.
      Title: Structural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations.
    2. our data suggest that O-glucosylation of Eys by Rumi ensures rhabdomere separation by promoting proper Eys folding and stability in a critical time window during the mid-pupal stage.
      Title: The protein O-glucosyltransferase Rumi modifies eyes shut to promote rhabdomere separation in Drosophila.
    3. Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase.
      Title: Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase.
    4. rumi fully suppresses the gain-of-function phenotype of a ligand-independent mutant form of Notch
      Title: Multiple O-glucosylation sites on Notch function as a buffer against temperature-dependent loss of signaling.
    5. Rumi is a CAP10 domain glycerosyltransferase that modifies Notch and is required for Notch signaling.
      Title: Rumi is a CAP10 domain glycosyltransferase that modifies Notch and is required for Notch signaling.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables EGF-domain serine glucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables EGF-domain serine xylosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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-xylosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of Notch signaling pathway 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 IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    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
    		  
    involved_in 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 rhabdomere development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endomembrane system HDA PubMed 
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    rumi
    Names
    CG31152-PA
    CG31152-PB
    rumi-PA
    rumi-PB
    NP_001262849.1
    NP_651095.1

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_033777.3 Reference assembly

      Range
      22749014..22750597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001275920.2 → NP_001262849.1  rumi, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001262849.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4KGR5
      Conserved Domains (1) summary
      smart00672
      Location:44 → 299
      CAP10; Putative lipopolysaccharide-modifying enzyme

    2. NM_142838.4 → NP_651095.1  rumi, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_651095.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q8T045
      Related
      FBpp0083713
      Conserved Domains (1) summary
      smart00672
      Location:139 → 394
      CAP10; Putative lipopolysaccharide-modifying enzyme
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0B4KGR5 A0A0B4KGR5
    Q8T045.1 Q8T045

    Gene LinkOut

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