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

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, Nov 2024]
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

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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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

Tmed2 (e-PCR), detects polymorphism
- UniSTS:531432

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

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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

EC 2.4.2.61

NP_694699.1

EC 2.4.2.61

XP_006513619.1

EC 2.4.2.61

XP_017169400.1

EC 2.4.2.61

XP_030100903.1

EC 2.4.2.61

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)

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
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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

121916844..121933271 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006513556.3 → XP_006513619.1 ribitol-5-phosphate xylosyltransferase 1 isoform X1
XM_030245043.2 → XP_030100903.1 ribitol-5-phosphate xylosyltransferase 1 isoform X2

UniProtKB/TrEMBL

Q8BVJ1
XM_017313911.3 → XP_017169400.1 ribitol-5-phosphate xylosyltransferase 1 isoform X2

UniProtKB/TrEMBL

Q8BVJ1