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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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See CHSY3 in Genome Data Viewer
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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