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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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