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

    Gene ID: 269941, updated on 9-Dec-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 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Involved in chondroitin sulfate biosynthetic process. Acts upstream of or within several processes, including positive regulation of smoothened signaling pathway; skeletal system development; and sulfation. Is active in Golgi apparatus. Is expressed in several structures, including alimentary system; brain; ear; respiratory system; and skeletal 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, Dec 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 11.7), limb E14.5 (RPKM 11.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Chsy1 in Genome Data Viewer
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region ISO
    Inferred from Sequence Orthology
    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)

    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)

    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