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    CHSY1 chondroitin sulfate synthase 1 [ Homo sapiens (human) ]

    Gene ID: 22856, updated on 7-May-2017
    Official Symbol
    CHSY1provided by HGNC
    Official Full Name
    chondroitin sulfate synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:17198
    See related
    Ensembl:ENSG00000131873 MIM:608183; Vega:OTTHUMG00000149873
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHSY; CSS1; TPBS; ChSy-1
    Summary
    This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]
    Orthologs
    Location:
    15q26.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (101175723..101251932, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (101715928..101792137, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene leucine rich repeat kinase 1 Neighboring gene uncharacterized LOC105371026 Neighboring gene uncharacterized LOC105371025 Neighboring gene uncharacterized LOC107984727 Neighboring gene selenoprotein S

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Temtamy preaxial brachydactyly syndrome
    MedGen: C1854466 OMIM: 605282 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
    NHGRI GWA Catalog
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    NHGRI GWA Catalog
    Identification of a candidate gene for astigmatism.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ58581, KIAA0990, DKFZp434M032

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    chondrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    chondroitin sulfate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chondroitin sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    negative regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    sulfation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    chondroitin sulfate synthase 1
    Names
    N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1
    N-acetylgalactosaminyltransferase II
    carbohydrate synthase 1
    chondroitin glucuronyltransferase 1
    chondroitin glucuronyltransferase II
    chondroitin synthase 1
    glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1
    NP_055733.2
    XP_006720498.1
    XP_011519666.1
    XP_016877500.1

    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.

    Genomic

    1. NG_031908.1 RefSeqGene

      Range
      5001..81210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014918.4NP_055733.2  chondroitin sulfate synthase 1 precursor

      See identical proteins and their annotated locations for NP_055733.2

      Status: REVIEWED

      Source sequence(s)
      AB023207, AC019254, BC046247, BQ007796
      Consensus CDS
      CCDS10390.1
      UniProtKB/Swiss-Prot
      Q86X52
      Related
      ENSP00000254190.3, OTTHUMP00000194839, ENST00000254190.3, OTTHUMT00000313624
      Conserved Domains (2) summary
      pfam05679
      Location:238777
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:87308
      Galactosyl_T; Galactosyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      101175723..101251932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521364.2XP_011519666.1  chondroitin sulfate synthase 1 isoform X1

      Conserved Domains (2) summary
      pfam05679
      Location:238805
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:87265
      Galactosyl_T; Galactosyltransferase
    2. XM_017022011.1XP_016877500.1  chondroitin sulfate synthase 1 isoform X2

      Conserved Domains (1) summary
      pfam05679
      Location:1505
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
    3. XM_006720435.3XP_006720498.1  chondroitin sulfate synthase 1 isoform X2

      See identical proteins and their annotated locations for XP_006720498.1

      Conserved Domains (1) summary
      pfam05679
      Location:1505
      CHGN; Chondroitin N-acetylgalactosaminyltransferase

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      101556975..101633122 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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