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

Gene ID: 269941, updated on 18-Apr-2024

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
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Genomic context

Location:
7; 7 C
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 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_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1088 Neighboring gene small nuclear ribonucleoprotein polypeptide A' Neighboring gene STARR-seq mESC enhancer starr_19082 Neighboring gene selenoprotein S Neighboring gene STARR-positive B cell enhancer ABC_E10440 Neighboring gene predicted gene, 23042 Neighboring gene NSA2 ribosome biogenesis homolog pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr7:73339453-73339754 Neighboring gene STARR-positive B cell enhancer ABC_E4932 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:73378275-73378458 Neighboring gene predicted gene, 33442 Neighboring gene leucine-rich repeat kinase 1 Neighboring gene predicted gene, 45989

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
small with kinky tail
GeneReviews: Not available

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0990

Gene Ontology Provided by MGI

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

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
XP_006540973.1

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_001081163.2NP_001074632.1  chondroitin sulfate synthase 1

    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
    UniProtKB/TrEMBL
    A8E636
    Related
    ENSMUSP00000047487.7, ENSMUST00000036372.8
    Conserved Domains (2) summary
    pfam05679
    Location:237776
    CHGN; Chondroitin N-acetylgalactosaminyltransferase
    cl21608
    Location:86307
    Galactosyl_T; Galactosyltransferase

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_000073.7 Reference GRCm39 C57BL/6J

    Range
    65759240..65823546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A2VCT7
    Conserved Domains (2) summary
    pfam05679
    Location:88627
    CHGN; Chondroitin N-acetylgalactosaminyltransferase
    cl21608
    Location:8158
    Galactosyl_T; Galactosyltransferase