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

    Gene ID: 216395, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 2.7), bladder adult (RPKM 2.0) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Rxylt1 in Genome Data Viewer
    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

    Expression

    • 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

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 ribitol beta-1,4-xylosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    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
     
    involved_in protein O-linked mannosylation ISS
    Inferred from Sequence or Structural Similarity
    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 Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    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)

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

      Status: VALIDATED

      Source sequence(s)
      AC158803, AI853079, BC083125, BY124763
      UniProtKB/TrEMBL
      Q8BVJ1
    2. NM_153059.2NP_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_006513556.3XP_006513619.1  ribitol-5-phosphate xylosyltransferase 1 isoform X1

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

      UniProtKB/TrEMBL
      Q8BVJ1
    3. XM_017313911.3XP_017169400.1  ribitol-5-phosphate xylosyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      Q8BVJ1