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

    Gene ID: 22856, updated on 27-Nov-2024

    Summary

    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; AllianceGenome:HGNC:17198
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 23.5), gall bladder (RPKM 17.8) and 24 other tissues See more
    Orthologs
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    Genomic context

    See CHSY1 in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (101175727..101252048, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (98930755..99007076, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (101715932..101792253, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101707586-101708111 Neighboring gene uncharacterized LOC124903564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101709499-101710003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101712741-101713627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101714516-101715402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101719289-101719899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101719900-101720509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101729693-101730580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101733708-101734251 Neighboring gene Sharpr-MPRA regulatory region 9624 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:101745934-101746099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6887 Neighboring gene uncharacterized LOC107984727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10191 Neighboring gene Sharpr-MPRA regulatory region 1457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101807276-101807810 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6888 Neighboring gene selenoprotein S

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

    Description
    Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
    EBI GWAS Catalog
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Identification of a candidate gene for astigmatism.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ58581, KIAA0990, DKFZp434M032

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 

    General protein information

    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_011519666.1
    XP_016877500.1
    XP_024305641.1
    XP_047288196.1
    XP_054233485.1
    XP_054233486.1
    XP_054233487.1
    XP_054233488.1

    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.

    Genomic

    1. NG_031908.1 RefSeqGene

      Range
      4885..81206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014918.5NP_055733.2  chondroitin sulfate synthase 1

      See identical proteins and their annotated locations for NP_055733.2

      Status: REVIEWED

      Source sequence(s)
      AB023207, AC019254, AC023024, BC046247, BQ007796
      Consensus CDS
      CCDS10390.1
      UniProtKB/Swiss-Prot
      Q6UX38, Q7LFU5, Q86X52, Q9Y2J5
      Related
      ENSP00000254190.3, ENST00000254190.4
      Conserved Domains (2) summary
      pfam05679
      Location:238777
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:87308
      Galactosyl_T; Galactosyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      101175727..101252048 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521364.3XP_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_047432240.1XP_047288196.1  chondroitin sulfate synthase 1 isoform X3

    3. XM_017022011.2XP_016877500.1  chondroitin sulfate synthase 1 isoform X3

      UniProtKB/TrEMBL
      B4DLD0
      Conserved Domains (1) summary
      pfam05679
      Location:1505
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
    4. XM_024449873.1XP_024305641.1  chondroitin sulfate synthase 1 isoform X2

      UniProtKB/TrEMBL
      B4DLD0
      Conserved Domains (1) summary
      pfam05679
      Location:66570
      CHGN; Chondroitin N-acetylgalactosaminyltransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      98930755..99007076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377510.1XP_054233485.1  chondroitin sulfate synthase 1 isoform X1

    2. XM_054377513.1XP_054233488.1  chondroitin sulfate synthase 1 isoform X3

    3. XM_054377512.1XP_054233487.1  chondroitin sulfate synthase 1 isoform X3

    4. XM_054377511.1XP_054233486.1  chondroitin sulfate synthase 1 isoform X4