Xylt1 xylosyltransferase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xylt1provided by MGI
Official Full Name: xylosyltransferase 1provided by MGI
Primary source: MGI:MGI:2451073
See related: Ensembl:ENSMUSG00000030657 AllianceGenome:MGI:2451073
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: 8030490L12
Summary: Enables protein xylosyltransferase activity. Involved in chondroitin sulfate biosynthetic process; embryonic skeletal system development; and ossification involved in bone maturation. Acts upstream of or within cellular response to heat. Located in Golgi cis cisterna. Is active in Golgi apparatus. Is expressed in lens. Human ortholog(s) of this gene implicated in Desbuquois dysplasia; pseudoxanthoma elasticum; and type 1 diabetes mellitus. Orthologous to human XYLT1 (xylosyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in spleen adult (RPKM 4.7), limb E14.5 (RPKM 4.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F1; 7 62.93 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (116980214..117266853)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (117380979..117667630)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Xylosyltransferase 2 deficiency and organ homeostasis.
Title: Xylosyltransferase 2 deficiency and organ homeostasis.
Notch-modifying xylosyltransferase structures support an SNi-like retaining mechanism.
Title: Notch-modifying xylosyltransferase structures support an SNi-like retaining mechanism.
We show that the pug mutation disrupts Xylt1 activity and subcellular localization, leading to a reduction in GAG chains in pug mutants. The pug mutant serves as a novel model for mammalian dwarfism.
Title: Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Xylt1 (e-PCR), detects polymorphism
- UniSTS:525637

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein xylosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein xylosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein xylosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein xylosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables protein xylosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular response to heat	IDA Inferred from Direct Assay more info	PubMed
involved_in chondroitin sulfate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondroitin sulfate proteoglycan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in chondroitin sulfate proteoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in chondroitin sulfate proteoglycan biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosaminoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in heparan sulfate proteoglycan biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in heparan sulfate proteoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in heparan sulfate proteoglycan biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of axon regeneration	ISO Inferred from Sequence Orthology more info
involved_in ossification involved in bone maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in proteoglycan biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi apparatus	ISO Inferred from Sequence Orthology more info	PubMed
located_in Golgi cis cisterna	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: xylosyltransferase 1

Names: peptide O-xylosyltransferase 1; xylosyltransferase I

NP_783576.2

EC 2.4.2.26

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.