Chsy1 chondroitin sulfate synthase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chsy1provided by MGI
Official Full Name: chondroitin sulfate synthase 1provided by MGI
Primary source: MGI:MGI:2681120
See related: Ensembl:ENSMUSG00000032640 AllianceGenome:MGI:2681120
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: skt
Summary: Enables glycosyltransferase activity. Acts upstream of or within several processes, including chondroitin sulfate biosynthetic process; positive regulation of smoothened signaling pathway; and skeletal system development. Predicted to be located in extracellular region. Is expressed in several structures, including alimentary system; brain; cranium; ear; and respiratory system. Human ortholog(s) of this gene implicated in temtamy preaxial brachydactyly syndrome. Orthologous to human CHSY1 (chondroitin sulfate synthase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary adult (RPKM 11.7), limb E14.5 (RPKM 11.5) and 25 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 7; 7 C

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (65759240..65823546)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (66109492..66173798)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sensory Nerve Maintains Intervertebral Disc Extracellular Matrix Homeostasis Via CGRP/CHSY1 Axis.
Title: Sensory Nerve Maintains Intervertebral Disc Extracellular Matrix Homeostasis Via CGRP/CHSY1 Axis.
Chsy1 deficiency reduces extracellular matrix productions and aggravates cartilage injury in osteoarthritis.
Title: Chsy1 deficiency reduces extracellular matrix productions and aggravates cartilage injury in osteoarthritis.
We showed the spatial and temporal expression of Skt gene in the cloacal plate formation. This gene could be a marker for the cloacal plate during the anorectal development. Skt was considered to be associated with the embryogenesis of ARMs.
Title: The Skt gene, required for anorectal development, is a candidate for a molecular marker of the cloacal plate.
Chondroitin sulfate (CS) modification of proteins by CHSY1 appears critical for proper regulation of immune cells of the myeloid lineage and for maintaining the integrity of neuronal tissues, since a defect in this gene results in increased inflammation and abnormal phenotypes associated with age-related diseases.
Title: Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in skt Mice.
Data indicate a phosphorylated tetrasaccharide linkage structure, GlcUAbeta1-3Galbeta1-3Galbeta1-4Xyl(2-O-phosphate), in chondroitin N-acetylgalactosaminyltransferase-1 knockout ChGn-1(-/-) growth plate cartilage.
Title: GlcUAβ1-3Galβ1-3Galβ1-4Xyl(2-O-phosphate) is the preferred substrate for chondroitin N-acetylgalactosaminyltransferase-1.
The results showed that Chsy1 is an essential regulator of joint patterning and provide a mouse model of human brachydactylies caused by mutations in CHSY1.
Title: Chondroitin sulfate synthase 1 (Chsy1) is required for bone development and digit patterning.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Associated conditions

Description	Tests
small with kinky tail GeneReviews: Not available

Variation

Go to the top of the page Help

Alleles

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

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH135931 (e-PCR)
- UniSTS:209928

Chsy1 (e-PCR), detects polymorphism
- UniSTS:546697

NoName (e-PCR)
- UniSTS:235684

Homology

Homologs of the Chsy1 gene: The Chsy1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 488 organisms have orthologs with human gene Chsy1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetylgalactosaminyltransferase activity	IEA Inferred from Electronic Annotation more info
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glycosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondroitin sulfate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within chondroitin sulfate biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in chondroitin sulfate biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within chondroitin sulfate biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ossification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proximal/distal pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sulfation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: chondroitin sulfate synthase 1

Names: N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1; N-acetylgalactosaminyltransferase 1; carbohydrate (chondroitin) synthase 1; chondroitin glucuronyltransferase 1; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1

NP_001074632.1

EC 2.4.1.175

EC 2.4.1.226

XP_006540973.1

EC 2.4.1.175

EC 2.4.1.226

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

NM_001081163.2 → NP_001074632.1 chondroitin sulfate synthase 1 precursor

See identical proteins and their annotated locations for NP_001074632.1

Status: VALIDATED

Source sequence(s)

AC124695, AC127595

Consensus CDS

CCDS39978.1

UniProtKB/Swiss-Prot

Q6ZQ11

Related

ENSMUSP00000047487.7, ENSMUST00000036372.8

Conserved Domains (2) summary

pfam05679
Location:237 → 776

CHGN; Chondroitin N-acetylgalactosaminyltransferase

cl21608
Location:86 → 307

Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

65759240..65823546

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540910.5 → XP_006540973.1 chondroitin sulfate synthase 1 isoform X1

Conserved Domains (2) summary

pfam05679
Location:88 → 627

CHGN; Chondroitin N-acetylgalactosaminyltransferase

cl21608
Location:8 → 158

Galactosyl_T; Galactosyltransferase