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Aliases for CHSY1 Gene

Aliases for CHSY1 Gene

  • Chondroitin Sulfate Synthase 1 2 3
  • 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
  • KIAA0990 4 6
  • ChSy-1 3 4
  • CSS1 3 4
  • TPBS 3 6
  • 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

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 brachydactyly. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity and N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 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

Genomic Location for CHSY1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Divalent metal cations. Highest activities are measured with Co(2+), Mn(2+) and Cd(2+).;
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHSY1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CHSY1 Gene

Domains for CHSY1 Gene

Gene Families for CHSY1 Gene

HGNC:
  • B3GT :Beta 3-glycosyltransferases
  • B4GT :Beta 4-glycosyltransferases

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 :
  • Q86X52
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:0008376 acetylgalactosaminyltransferase activity --
GO:0016757 transferase activity, transferring glycosyl groups --
GO:0046872 metal ion binding IEA --
GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IDA 11514575
GO:0050510 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity IEA --
genes like me logo Genes that share ontologies with CHSY1: view
genes like me logo Genes that share phenotypes with CHSY1: view

Animal Models for CHSY1 Gene

MGI Knock Outs for CHSY1:

miRNA for CHSY1 Gene

No data available for Transcription Factor Targeting 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
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CHSY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IDA 21129727
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with CHSY1: view

Pathways 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:0005975 carbohydrate metabolic process TAS --
GO:0009954 proximal/distal pattern formation IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0030204 chondroitin sulfate metabolic process TAS --
genes like me logo Genes that share ontologies with CHSY1: view

Compounds for CHSY1 Gene

(7) HMDB Compounds for CHSY1 Gene

Compound Synonyms Cas Number PubMed IDs
Cadmium
  • Cd
7440-43-9
Cobalt
  • Co
7440-48-4
Lactosamine
  • beta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
13000-25-4
Manganese
  • manganese
7439-96-5
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0

(4) Novoseek inferred chemical compound relationships for CHSY1 Gene

Compound -log(P) Hits PubMed IDs
chondroitin 92 28
tetrasaccharide 84.7 1
chondroitin sulfate 83.3 8
glucuronic acid 76.8 1
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

Integrated Proteomics: protein expression 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 expressions with CHSY1: view

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 35
  • 99.27 (n)
  • 99.42 (a)
CHSY1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHSY 36
  • 96 (a)
OneToOne
CHSY1 35
  • 90.32 (n)
  • 96.26 (a)
dog
(Canis familiaris)
Mammalia CHSY1 35
  • 90.89 (n)
  • 96.75 (a)
CHSY1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chsy1 35
  • 87.33 (n)
  • 94.12 (a)
Chsy1 16
Chsy1 36
  • 95 (a)
OneToOne
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 35
  • 72.88 (n)
  • 77.85 (a)
chsy1 36
  • 78 (a)
OneToOne
Dr.11146 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001010 35
  • 54.37 (n)
  • 47.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9220 35
  • 54.53 (n)
  • 47.81 (a)
CG9220 36
  • 39 (a)
OneToMany
CG9220 37
  • 41 (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

Selected 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 MAF
rs11433 -- 101,176,378(-) AAACA(C/T)ACACA utr-variant-3-prime
rs179276 -- 101,214,908(+) ggatt(G/T)ctcat intron-variant
rs189059 -- 101,202,351(-) GCCCC(C/T)CCTGC intron-variant
rs228890 -- 101,202,463(-) AATGC(C/G)CTCCA intron-variant
rs228891 -- 101,202,274(-) AATGC(C/G)CTCCA 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

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

MalaCards: The human disease database. (3) Diseases for CHSY1 Gene including...

Search for CHSY1 Gene in MalaCards »

(1) OMIM Diseases for CHSY1 Gene (608183)

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.

(1) University of Copenhagen DISEASES for CHSY1 Gene

Relevant External Links for CHSY1

Genetic Association Database (GAD)
CHSY1
genes like me logo Genes that share disorders with CHSY1: view

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
  2. Chondroitin sulfate synthase-3. Molecular cloning and characterization. (PMID: 12907687) Yada T. … Kimata K. (J. Biol. Chem. 2003) 3 4 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 4 23
  4. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for CHSY1 Gene

Sources for CHSY1 Gene

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