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Aliases for CHSY1 Gene

Aliases for CHSY1 Gene

  • Chondroitin Sulfate Synthase 1 2 3 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
  • CHSY 3 4
  • CSS1 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 Brachydactyly. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Metabolism. Gene Ontology (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 CHSY3.

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

Additional gene information for CHSY1 Gene

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

Genomics for CHSY1 Gene

GeneHancer (GH) Regulatory Elements for CHSY1 Gene

Promoters and enhancers for CHSY1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J101249 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.4 355 3.5 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF213 ZNF207 ZNF143 CHSY1 WASH3P GC15M101231
GH15J101197 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 27.2 +47.7 47689 14.3 HDGF PKNOX1 FOXA2 SMAD1 SIN3A FEZF1 IRF4 TCF12 GATA2 ZNF143 GC15M101194 CHSY1 SNRPA1 LOC100419174 LINS1 PRKXP1 TM2D3 WASH3P ASB7 LRRK1
GH15J101182 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 25.1 +63.0 63018 13.8 BATF RAD21 YY1 ARID2 SCRT2 ATF7 FOS BCLAF1 IKZF2 RUNX3 LINS1 WASH3P ASB7 CHSY1 LOC100419174 SNRPA1 TM2D3 LRRK1 PIR58100 GC15M101194
GH15J101120 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 20.6 +126.8 126837 8.5 HDGF PKNOX1 SMAD1 FEZF1 ZNF2 IRF4 ZNF48 ZNF121 ZNF213 ZNF143 CHSY1 LOC100419174 WASH3P PRKXP1 ASB7 LINS1 SNRPA1 LRRK1 ENSG00000259365 LOC105371026
GH15J101166 Enhancer 1.4 Ensembl ENCODE dbSUPER 20.7 +82.1 82122 6.5 HDGF PKNOX1 ATF1 ARNT TCF12 GATA2 FOS ATF7 SP5 NCOA1 ENSG00000259182 CHSY1 PIR58100
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHSY1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHSY1 gene promoter:

Genomic Locations for CHSY1 Gene

Genomic Locations for CHSY1 Gene
chr15:101,175,723-101,251,932
(GRCh38/hg38)
Size:
76,210 bases
Orientation:
Minus strand
chr15:101,715,928-101,792,137
(GRCh37/hg19)

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

Post-translational modifications for CHSY1 Gene

  • Glycosylation at posLast=796796, posLast=769769, Asn623, and posLast=189189
  • Modification sites at PhosphoSitePlus

Other Protein References for CHSY1 Gene

No data available for DME Specific Peptides for CHSY1 Gene

Domains & Families for CHSY1 Gene

Gene Families for CHSY1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted secreted proteins

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + [protein]-3-O-(beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine = UDP + [protein]-3-O-(beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + [protein]-3-O-(beta-D-GlcA-(1->3)-(beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3))(n)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine = UDP + [protein]-3-O-((beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3))(n+1)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine.
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.

Enzyme Numbers (IUBMB) for CHSY1 Gene

Phenotypes From GWAS Catalog for CHSY1 Gene

Gene Ontology (GO) - Molecular Function for CHSY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008376 acetylgalactosaminyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046872 metal ion binding IEA --
GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity TAS,IDA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHSY1

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IDA,IEA 21129727
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHSY1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHSY1 Gene

Pathways & Interactions for CHSY1 Gene

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

Gene Ontology (GO) - Biological Process for CHSY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002063 chondrocyte development IEA --
GO:0009954 proximal/distal pattern formation IEA --
GO:0030206 chondroitin sulfate biosynthetic process TAS,IDA --
GO:0030279 negative regulation of ossification IMP 21129727
GO:0031667 response to nutrient levels IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
Cobalt Pharma 174

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cadmium
  • CADMIUM ion
  • Cadmium, ion (CD2+)
  • CD(2+)
  • CD2+
  • Cadmium atom
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
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • URIDINE-diphosphATE-N-acetylgalactosamine
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphoric acid (non-preferred name)
  • UDP-N-Acetyl-a-D-galactosamine
  • UDP-N-Acetyl-α-D-galactosamine
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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHSY1

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CHSY1 Gene



Protein tissue co-expression partners for CHSY1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHSY1 Gene:

CHSY1

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.

Evidence on tissue expression from TISSUES for CHSY1 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHSY1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns 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 34 33
  • 99.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHSY 34
  • 96 (a)
OneToOne
CHSY1 33
  • 90.32 (n)
dog
(Canis familiaris)
Mammalia CHSY1 34 33
  • 90.89 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHSY1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chsy1 16 34 33
  • 87.33 (n)
rat
(Rattus norvegicus)
Mammalia Chsy1 33
  • 86.7 (n)
chicken
(Gallus gallus)
Aves CHSY1 34 33
  • 82.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHSY1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chsy1 33
  • 77.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13395 33
zebrafish
(Danio rerio)
Actinopterygii chsy1 34 33
  • 72.88 (n)
OneToOne
Dr.11146 33
fruit fly
(Drosophila melanogaster)
Insecta CG9220 34 35 33
  • 54.53 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001010 33
  • 54.37 (n)
worm
(Caenorhabditis elegans)
Secernentea sqv-5 34
  • 37 (a)
OneToMany
T24D1.1 35
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
Species where no ortholog for CHSY1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CHSY1: view image

Paralogs for CHSY1 Gene

Paralogs for CHSY1 Gene

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

  • CHSS1_HUMAN
  • L8E844_HUMAN

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 Variation AA Info Type
rs3803422 benign, Temtamy preaxial brachydactyly syndrome 101,177,985(-) C/G/T coding_sequence_variant, synonymous_variant
rs3803423 benign, Temtamy preaxial brachydactyly syndrome 101,177,901(-) G/A/C coding_sequence_variant, synonymous_variant
rs387906984 pathogenic, Temtamy preaxial brachydactyly syndrome 101,251,252(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, stop_gained
rs387906985 pathogenic, Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282] 101,178,181(-) G/C coding_sequence_variant, missense_variant
rs74752435 benign, Temtamy preaxial brachydactyly syndrome 101,178,745(-) T/C coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv2672n100 CNV gain 25217958
dgv2673n100 CNV gain 25217958
dgv452n67 CNV gain 20364138
dgv4788n54 CNV loss 21841781
dgv4789n54 CNV gain 21841781
dgv4790n54 CNV loss 21841781
esv1000122 CNV insertion 20482838
esv1358860 CNV insertion 17803354
esv21841 CNV loss 19812545
esv2221765 CNV deletion 18987734
esv2488930 CNV deletion 19546169
esv27268 CNV loss 19812545
esv2750181 CNV deletion 23290073
esv2750182 CNV deletion 23290073
esv2760063 CNV gain+loss 17122850
esv34275 CNV gain 17911159
esv3552949 CNV deletion 23714750
esv3637500 CNV loss 21293372
esv3637501 CNV gain 21293372
esv3637503 CNV loss 21293372
esv8823 CNV loss 19470904
nsv1035599 CNV gain 25217958
nsv1049577 CNV gain 25217958
nsv1071240 CNV deletion 25765185
nsv1131098 CNV deletion 24896259
nsv1135818 CNV deletion 24896259
nsv1151283 CNV insertion 26484159
nsv1691 CNV insertion 18451855
nsv428314 CNV loss 18775914
nsv570828 CNV gain 21841781
nsv570833 CNV loss 21841781
nsv570838 CNV loss 21841781
nsv570839 CNV gain+loss 21841781
nsv570844 CNV loss 21841781
nsv570845 CNV loss 21841781
nsv833110 CNV gain+loss 17160897
nsv9309 CNV loss 18304495

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)

Additional Variant Information for CHSY1 Gene

Human Gene Mutation Database (HGMD)
CHSY1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHSY1

SNP Genotyping and Copy Number Assay Products

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

Disorders for CHSY1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CHSY1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
temtamy preaxial brachydactyly syndrome
  • tpbs
brachydactyly
reflex sympathetic dystrophy
  • complex regional pain syndrome
autonomic nervous system disease
  • autonomic nervous system disorder
- 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.

Additional Disease Information for 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 (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. Chondroitin sulfate synthase-3. Molecular cloning and characterization. (PMID: 12907687) Yada T … Kimata K (The Journal of biological chemistry 2003) 3 4 22 58
  3. Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization. (PMID: 12716890) Kitagawa H … Sugahara K (The Journal of biological chemistry 2003) 3 4 22 58
  4. Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. (PMID: 21129728) Li Y … Wollnik B (American journal of human genetics 2010) 3 4 58
  5. Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. (PMID: 21129727) Tian J … Reversade B (American journal of human genetics 2010) 3 4 58

Products for CHSY1 Gene

Sources for CHSY1 Gene

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