Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHSY1 Gene

Aliases for CHSY1 Gene

  • Chondroitin Sulfate Synthase 1 2 3 5
  • Glucuronosyl-N-Acetylgalactosaminyl-Proteoglycan 4-Beta-N-Acetylgalactosaminyltransferase 1 3 4
  • N-Acetylgalactosaminyl-Proteoglycan 3-Beta-Glucuronosyltransferase 1 3 4
  • Chondroitin Glucuronyltransferase 1 3 4
  • Chondroitin Synthase 1 3 4
  • ChSy-1 3 4
  • CSS1 3 4
  • CHSY 3 4
  • Carbohydrate (Chondroitin) Synthase 1 2
  • N-Acetylgalactosaminyltransferase II 3
  • Chondroitin Glucuronyltransferase II 3
  • N-Acetylgalactosaminyltransferase 1 4
  • Carbohydrate Synthase 1 3
  • EC 2.4.1.175 4
  • EC 2.4.1.226 4
  • KIAA0990 4
  • TPBS 3

External Ids for CHSY1 Gene

Previous GeneCards Identifiers for CHSY1 Gene

  • GC15M098567
  • GC15M095557
  • GC15M099308
  • GC15M099451
  • GC15M099533
  • GC15M101715
  • GC15M077838

Summaries for CHSY1 Gene

Entrez Gene Summary for CHSY1 Gene

  • 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]

GeneCards Summary for CHSY1 Gene

CHSY1 (Chondroitin Sulfate Synthase 1) is a Protein Coding gene. Diseases associated with CHSY1 include temtamy preaxial brachydactyly syndrome and shaheen syndrome. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include transferase activity, transferring glycosyl groups and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT4.

UniProtKB/Swiss-Prot for CHSY1 Gene

  • Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.

Gene Wiki entry for CHSY1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHSY1 Gene

Genomics for CHSY1 Gene

Regulatory Elements for CHSY1 Gene

Promoters for CHSY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHSY1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHSY1 Gene

Chromosome:
15
Start:
101,175,723 bp from pter
End:
101,251,932 bp from pter
Size:
76,210 bases
Orientation:
Minus strand

Genomic View for CHSY1 Gene

Genes around CHSY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHSY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHSY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHSY1 Gene

Proteins for CHSY1 Gene

  • Protein details for CHSY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86X52-CHSS1_HUMAN
    Recommended name:
    Chondroitin sulfate synthase 1
    Protein Accession:
    Q86X52
    Secondary Accessions:
    • Q6UX38
    • Q7LFU5
    • Q9Y2J5

    Protein attributes for CHSY1 Gene

    Size:
    802 amino acids
    Molecular mass:
    91784 Da
    Cofactor:
    Name=Co(2+); Xref=ChEBI:CHEBI:48828; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Name=Cd(2+); Xref=ChEBI:CHEBI:48775;
    Quaternary structure:
    • Binds CHPF.
    SequenceCaution:
    • Sequence=BAA76834.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for CHSY1 Gene

Proteomics data for CHSY1 Gene at MOPED

Post-translational modifications for CHSY1 Gene

  • Glycosylation at Asn 189, Asn 623, Ser 769, and Asn 796
  • Modification sites at PhosphoSitePlus

Other Protein References for CHSY1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CHSY1 Gene

Domains & Families for CHSY1 Gene

Protein Domains for CHSY1 Gene

Suggested Antigen Peptide Sequences for CHSY1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86X52

UniProtKB/Swiss-Prot:

CHSS1_HUMAN :
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
Family:
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
genes like me logo Genes that share domains with CHSY1: view

Function for CHSY1 Gene

Molecular function for CHSY1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucuronate + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.
UniProtKB/Swiss-Prot Function:
Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.

Enzyme Numbers (IUBMB) for CHSY1 Gene

Gene Ontology (GO) - Molecular Function for CHSY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with CHSY1: view
genes like me logo Genes that share phenotypes with CHSY1: view

Human Phenotype Ontology for CHSY1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHSY1 Gene

MGI Knock Outs for CHSY1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHSY1

No data available for Transcription Factor Targets and HOMER Transcription for CHSY1 Gene

Localization for CHSY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHSY1 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHSY1 Gene COMPARTMENTS Subcellular localization image for CHSY1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for CHSY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHSY1: view

Pathways & Interactions for CHSY1 Gene

genes like me logo Genes that share pathways with CHSY1: view

Interacting Proteins for CHSY1 Gene

Gene Ontology (GO) - Biological Process for CHSY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002063 chondrocyte development IEA --
GO:0030204 chondroitin sulfate metabolic process TAS --
GO:0030206 chondroitin sulfate biosynthetic process IEA,TAS --
GO:0030279 negative regulation of ossification IMP 21129727
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with CHSY1: view

No data available for SIGNOR curated interactions for CHSY1 Gene

Drugs & Compounds for CHSY1 Gene

(4) Drugs for CHSY1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0
Cobalt Pharma 155
Manganese Pharma 32

(8) Additional Compounds for CHSY1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cadmium
  • Cadmium atom
  • Cadmium elemental
  • Cadmium metallicum
  • Cd
  • Colloidal cadmium
7440-43-9
Lactosamine
  • 2-Amino-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-Amino-2-deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
UDP-N-acetyl-alpha-D-galactosamine
Uridine diphosphate glucuronic acid
  • a-D-Glucopyranuronic acid 1->5'-ester with uridine 5'-(trihydrogen pyrophosphate)
  • a-D-Glucopyranuronic acid ester with uridine 5'-pyrophosphate
  • alpha-D-Glucopyranuronic acid 1-P'-ester with uridine 5'-(trihydrogen diphosphate)
  • alpha-delta-Glucopyranuronic acid 1->5'-ester with uridine 5'-(trihydrogen pyrophosphate)
  • alpha-delta-Glucopyranuronic acid 1-P'-ester with uridine 5'-(trihydrogen diphosphate)
2616-64-0
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with CHSY1: view

Transcripts for CHSY1 Gene

Unigene Clusters for CHSY1 Gene

Chondroitin sulfate synthase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHSY1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: - -
SP2: - - -
SP3:

Relevant External Links for CHSY1 Gene

GeneLoc Exon Structure for
CHSY1
ECgene alternative splicing isoforms for
CHSY1

Expression for CHSY1 Gene

mRNA expression in normal human tissues for CHSY1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHSY1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (30.5), Heart (19.7), and Placenta (18.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHSY1 Gene



SOURCE GeneReport for Unigene cluster for CHSY1 Gene Hs.110488

mRNA Expression by UniProt/SwissProt for CHSY1 Gene

Q86X52-CHSS1_HUMAN
Tissue specificity: Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with CHSY1: view

Protein tissue co-expression partners for CHSY1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CHSY1 Gene

Orthologs for CHSY1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHSY1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHSY1 36
  • 99 (a)
OneToOne
CHSY1 35
  • 99.27 (n)
  • 99.42 (a)
cow
(Bos Taurus)
Mammalia CHSY1 35
  • 90.32 (n)
  • 96.26 (a)
CHSY 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHSY1 36
  • 97 (a)
OneToOne
CHSY1 35
  • 90.89 (n)
  • 96.75 (a)
mouse
(Mus musculus)
Mammalia Chsy1 16
Chsy1 36
  • 95 (a)
OneToOne
Chsy1 35
  • 87.33 (n)
  • 94.12 (a)
oppossum
(Monodelphis domestica)
Mammalia CHSY1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chsy1 35
  • 86.7 (n)
  • 93.95 (a)
chicken
(Gallus gallus)
Aves CHSY1 35
  • 82.28 (n)
  • 92.53 (a)
CHSY1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHSY1 36
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13395 35
tropical clawed frog
(Silurana tropicalis)
Amphibia chsy1 35
  • 77.15 (n)
  • 85.14 (a)
zebrafish
(Danio rerio)
Actinopterygii chsy1 36
  • 78 (a)
OneToOne
chsy1 35
  • 72.88 (n)
  • 77.85 (a)
Dr.11146 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001010 35
  • 54.37 (n)
  • 47.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9220 36
  • 39 (a)
OneToMany
CG9220 37
  • 41 (a)
CG9220 35
  • 54.53 (n)
  • 47.81 (a)
worm
(Caenorhabditis elegans)
Secernentea sqv-5 36
  • 37 (a)
OneToMany
T24D1.1 37
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for CHSY1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHSY1 Gene

ENSEMBL:
Gene Tree for CHSY1 (if available)
TreeFam:
Gene Tree for CHSY1 (if available)

Paralogs for CHSY1 Gene

Paralogs for CHSY1 Gene

(2) SIMAP similar genes for CHSY1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for CHSY1 Gene

genes like me logo Genes that share paralogs with CHSY1: view

Variants for CHSY1 Gene

Sequence variations from dbSNP and Humsavar for CHSY1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs3743193 - 101,178,722(-) GAATC(C/T)CTCCC reference, missense
VAR_028009 -
VAR_065822 Temtamy preaxial brachydactyly syndrome (TPBS)
rs11433 -- 101,176,378(-) AAACA(C/T)ACACA utr-variant-3-prime
rs179276 -- 101,214,908(+) ggatt(G/T)ctcat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHSY1 Gene

Variant ID Type Subtype PubMed ID
esv34275 CNV Gain 17911159
nsv1691 CNV Insertion 18451855
nsv904597 CNV Gain 21882294
nsv833110 CNV Gain+Loss 17160897
dgv786e1 CNV Complex 17122850
esv1000122 CNV Insertion 20482838
esv1358860 CNV Insertion 17803354
dgv787e1 CNV Complex 17122850
nsv428314 CNV Loss 18775914
esv2488930 CNV Deletion 19546169
nsv9309 CNV Loss 18304495
esv2750181 CNV Deletion 23290073
esv8823 CNV Loss 19470904
esv21841 CNV Loss 19812545
esv2221765 CNV Deletion 18987734
esv2750182 CNV Deletion 23290073
nsv904598 CNV Loss 21882294
dgv452n67 CNV Gain 20364138
esv27268 CNV Loss 19812545

Variation tolerance for CHSY1 Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.76; 83.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHSY1 Gene

HapMap Linkage Disequilibrium report
CHSY1
Human Gene Mutation Database (HGMD)
CHSY1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHSY1 Gene

Disorders for CHSY1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CHSY1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
temtamy preaxial brachydactyly syndrome
  • preaxial brachydactyly syndrome, temtamy type
shaheen syndrome
  • shns
brachydactyly
autonomic nervous system disease
  • autonomic nervous system disorder
epiphyseal chondrodysplasia, miura type
  • ecdm
- elite association - COSMIC cancer census association via MalaCards
Search CHSY1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHSS1_HUMAN
  • Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282]: A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. {ECO:0000269 PubMed:21129727, ECO:0000269 PubMed:21129728}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHSY1

Genetic Association Database (GAD)
CHSY1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHSY1
genes like me logo Genes that share disorders with CHSY1: view

No data available for Genatlas for CHSY1 Gene

Publications for CHSY1 Gene

  1. Molecular cloning and expression of a human chondroitin synthase. (PMID: 11514575) Kitagawa H. … Sugahara K. (J. Biol. Chem. 2001) 2 3 4 23 67
  2. Chondroitin sulfate synthase-3. Molecular cloning and characterization. (PMID: 12907687) Yada T. … Kimata K. (J. Biol. Chem. 2003) 3 23
  3. Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization. (PMID: 12716890) Kitagawa H. … Sugahara K. (J. Biol. Chem. 2003) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. (PMID: 24269551) Sher G. … Naeem M. (Eur J Med Genet 2014) 3

Products for CHSY1 Gene

Sources for CHSY1 Gene

Back to Top

Content