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    CHSY3 chondroitin sulfate synthase 3 [ Homo sapiens (human) ]

    Gene ID: 337876, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CHSY3provided by HGNC
    Official Full Name
    chondroitin sulfate synthase 3provided by HGNC
    Primary source
    HGNC:HGNC:24293
    See related
    Ensembl:ENSG00000198108 MIM:609963; AllianceGenome:HGNC:24293
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSS3; CHSY2
    Summary
    CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    Location:
    5q23.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (129903979..130186634)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (130422787..130705475)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (129240158..129522327)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ADAMTS19 antisense RNA 1 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 19 Neighboring gene NANOG hESC enhancer GRCh37_chr5:129004984-129005522 Neighboring gene NANOG hESC enhancer GRCh37_chr5:129103445-129103946 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:129107197-129107750 Neighboring gene membrane integral NOTCH2 associated receptor 2 Neighboring gene uncharacterized LOC112267944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16299 Neighboring gene RNA, U6atac small nuclear 10, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 191 Neighboring gene OCT4-NANOG hESC enhancers GRCh37_chr5:129502144-129502824 and GRCh37_chr5:129502825-129503503 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 4 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:129541966-129543165 Neighboring gene NANOG hESC enhancer GRCh37_chr5:129563309-129563853 Neighboring gene uncharacterized LOC105379171 Neighboring gene RNA, U7 small nuclear 53 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Reduction of pl-CSA through ChSy-2 knockout inhibits tumorigenesis and metastasis of choriocarcinoma in JEG3 cells. Zhang J, et al. Int J Med Sci, 2021. PMID 33390789, Free PMC Article
    2. Chondroitin sulfate synthase-3. Molecular cloning and characterization. Yada T, et al. J Biol Chem, 2003 Oct 10. PMID 12907687
    3. Chondroitin synthase-3 regulates nucleus pulposus degeneration through actin-induced YAP signaling. Wei L, et al. FASEB J, 2020 Dec. PMID 33089528
    4. Involvement of chondroitin sulfate synthase-3 (chondroitin synthase-2) in chondroitin polymerization through its interaction with chondroitin synthase-1 or chondroitin-polymerizing factor. Izumikawa T, et al. Biochem J, 2007 May 1. PMID 17253960, Free PMC Article
    5. Chondroitin synthases I, II, III and chondroitin sulfate glucuronyltransferase expression in colorectal cancer. Kalathas D, et al. Mol Med Rep, 2011 Mar-Apr. PMID 21468578

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CHSY3 promotes proliferation and migration in gastric cancer and is associated with immune infiltration.
      Title: CHSY3 promotes proliferation and migration in gastric cancer and is associated with immune infiltration.
    2. Reduction of pl-CSA through ChSy-2 knockout inhibits tumorigenesis and metastasis of choriocarcinoma in JEG3 cells.
      Title: Reduction of pl-CSA through ChSy-2 knockout inhibits tumorigenesis and metastasis of choriocarcinoma in JEG3 cells.
    3. Chondroitin synthase-3 regulates nucleus pulposus degeneration through actin-induced YAP signaling.
      Title: Chondroitin synthase-3 regulates nucleus pulposus degeneration through actin-induced YAP signaling.
    4. The present study focused on the expression of chondroitin-synthesizing enzymes in colorectal cancer.
      Title: Chondroitin synthases I, II, III and chondroitin sulfate glucuronyltransferase expression in colorectal cancer.
    5. results suggest that chondroitin polymerization is achieved by multiple combinations of chondroitin synthase-1, chondroitin synthase-2, and chondroitin-polymerizing factor
      Title: Involvement of chondroitin sulfate synthase-3 (chondroitin synthase-2) in chondroitin polymerization through its interaction with chondroitin synthase-1 or chondroitin-polymerizing factor.
    6. The full-length open reading frame consists of 882 amino acids and encodes a typical type II membrane protein. This enzyme contains a beta 3-glycosyltransferase motif and a beta 4-glycosyltransferase motif similar to that found in CSS1.
      Title: Chondroitin sulfate synthase-3. Molecular cloning and characterization.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chondroitin sulfate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chondroitin sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    chondroitin sulfate synthase 3
    Names
    N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3
    N-acetylgalactosaminyltransferase 3
    carbohydrate synthase 2
    chSy-2
    chondroitin glucuronyltransferase 3
    chondroitin synthase-2
    glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II
    NP_787052.3
    XP_005272039.1
    XP_005272040.1
    XP_011541665.1
    XP_011541666.1
    XP_011541667.1
    XP_016864923.1
    XP_016864924.1
    XP_054208469.1
    XP_054208470.1
    XP_054208471.1
    XP_054208472.1
    XP_054208473.1
    XP_054208474.1
    XP_054208475.1

    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_175856.5 → NP_787052.3  chondroitin sulfate synthase 3

      See identical proteins and their annotated locations for NP_787052.3

      Status: VALIDATED

      Source sequence(s)
      AB086062, AC011360, AJ504664, AJ578034
      Consensus CDS
      CCDS34223.1
      UniProtKB/Swiss-Prot
      B2RP97, Q70JA7, Q76L22, Q86Y52
      UniProtKB/TrEMBL
      A2V663
      Related
      ENSP00000302629.4, ENST00000305031.5
      Conserved Domains (2) summary
      pfam05679
      Location:328 → 864
      CHGN; Chondroitin N-acetylgalactosaminyltransferase
      cl21608
      Location:173 → 398
      Galactosyl_T; Galactosyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      129903979..130186634
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543363.4 → XP_011541665.1  chondroitin sulfate synthase 3 isoform X1

      Conserved Domains (1) summary
      pfam05679
      Location:19 → 555
      CHGN; Chondroitin N-acetylgalactosaminyltransferase

    2. XM_011543365.4 → XP_011541667.1  chondroitin sulfate synthase 3 isoform X4

      Conserved Domains (2) summary
      cl11394
      Location:328 → 369
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
      cl21608
      Location:173 → 351
      Galactosyl_T; Galactosyltransferase

    3. XM_005271982.5 → XP_005272039.1  chondroitin sulfate synthase 3 isoform X5

      Conserved Domains (2) summary
      cl11394
      Location:328 → 362
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
      cl21608
      Location:173 → 351
      Galactosyl_T; Galactosyltransferase

    4. XM_017009435.3 → XP_016864924.1  chondroitin sulfate synthase 3 isoform X3

    5. XM_005271983.5 → XP_005272040.1  chondroitin sulfate synthase 3 isoform X6

      Conserved Domains (2) summary
      cl11394
      Location:328 → 363
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
      cl21608
      Location:173 → 351
      Galactosyl_T; Galactosyltransferase

    6. XM_017009434.2 → XP_016864923.1  chondroitin sulfate synthase 3 isoform X2

      Conserved Domains (1) summary
      pfam05679
      Location:1 → 502
      CHGN; Chondroitin N-acetylgalactosaminyltransferase

    7. XM_011543364.3 → XP_011541666.1  chondroitin sulfate synthase 3 isoform X2

      Conserved Domains (1) summary
      pfam05679
      Location:1 → 502
      CHGN; Chondroitin N-acetylgalactosaminyltransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      130422787..130705475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352494.1 → XP_054208469.1  chondroitin sulfate synthase 3 isoform X1

    2. XM_054352498.1 → XP_054208473.1  chondroitin sulfate synthase 3 isoform X4

    3. XM_054352499.1 → XP_054208474.1  chondroitin sulfate synthase 3 isoform X5

    4. XM_054352497.1 → XP_054208472.1  chondroitin sulfate synthase 3 isoform X3

    5. XM_054352500.1 → XP_054208475.1  chondroitin sulfate synthase 3 isoform X6

    6. XM_054352495.1 → XP_054208470.1  chondroitin sulfate synthase 3 isoform X2

    7. XM_054352496.1 → XP_054208471.1  chondroitin sulfate synthase 3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q70JA7.3 GenPept UniProtKB/Swiss-Prot:Q70JA7

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