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    Rxylt1 ribitol xylosyltransferase 1 [ Mus musculus (house mouse) ]

    Gene ID: 216395, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Rxylt1provided by MGI
    Official Full Name
    ribitol xylosyltransferase 1provided by MGI
    Primary source
    MGI:MGI:2384919
    See related
    Ensembl:ENSMUSG00000034620 AllianceGenome:MGI:2384919
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tmem5; 6330415D21Rik
    Summary
    Predicted to enable ribitol beta-1,4-xylosyltransferase activity. Predicted to be involved in protein O-linked mannosylation. Located in Golgi apparatus. Is expressed in forelimb bud. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A10. Orthologous to human RXYLT1 (ribitol xylosyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta adult (RPKM 2.7), bladder adult (RPKM 2.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    10 D2; 10 70.25 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (121916844..121933271, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (122080939..122097366, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 48826 Neighboring gene transmembrane emp24 domain trafficking protein 2 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr10:121533306-121533607 Neighboring gene STARR-positive B cell enhancer ABC_E1130 Neighboring gene STARR-positive B cell enhancer ABC_E6935 Neighboring gene predicted gene 4489 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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

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    Related articles in PubMed

    1. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. Willer T, et al. Elife, 2014 Oct 3. PMID 25279699, Free PMC Article
    2. Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Lewandowski JP, et al. Dev Biol, 2015 Oct 1. PMID 26238476, Free PMC Article
    3. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
    4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC28135, MGC103359

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ribitol beta-1,4-xylosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ribitol beta-1,4-xylosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked mannosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ribitol-5-phosphate xylosyltransferase 1
    Names
    UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase
    transmembrane protein 5
    NP_001351635.1
    NP_694699.1
    XP_006513619.1
    XP_017169400.1
    XP_030100903.1

    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_001364706.1 → NP_001351635.1  ribitol-5-phosphate xylosyltransferase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC158803, AI853079, BC083125, BY124763
      UniProtKB/TrEMBL
      Q8BVJ1

    2. NM_153059.2 → NP_694699.1  ribitol-5-phosphate xylosyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_694699.1

      Status: VALIDATED

      Source sequence(s)
      AC158803, AK075928, AK078061, BY124763
      Consensus CDS
      CCDS24214.1
      UniProtKB/Swiss-Prot
      Q8R566, Q8VDX6
      Related
      ENSMUSP00000119308.2, ENSMUST00000140299.3

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      121916844..121933271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006513556.3 → XP_006513619.1  ribitol-5-phosphate xylosyltransferase 1 isoform X1

    2. XM_030245043.2 → XP_030100903.1  ribitol-5-phosphate xylosyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      Q8BVJ1

    3. XM_017313911.3 → XP_017169400.1  ribitol-5-phosphate xylosyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      Q8BVJ1
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VDX6.1 GenPept UniProtKB/Swiss-Prot:Q8VDX6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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