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
External Ids for CHSY1 Gene
- HGNC: 17198
- Entrez Gene: 22856
- Ensembl: ENSG00000131873
- OMIM: 608183
- UniProtKB: Q86X52
Previous GeneCards Identifiers for CHSY1 Gene
- GC15M098567
- GC15M095557
- GC15M099308
- GC15M099451
- GC15M099533
- GC15M101715
- GC15M077838
Summaries 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 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 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHSY1 Gene
Genomics for CHSY1 Gene
Regulatory Elements for CHSY1 Gene
Enhancers for CHSY1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CHSY1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 15q26.3 by Ensembl
- 15q26.3 by Entrez Gene
- 15q26.3 by HGNC
CHSY1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for CHSY1 Gene
Post-translational modifications for CHSY1 Gene
Other Protein References for CHSY1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CHSY1
- Novus Biologicals Antibodies for CHSY1
-
Abcam antibodies for CHSY1
- Invitrogen Antibodies for CHSY1
- antibodies-online Antibodies for CHSY1: See all 35
- GeneTex CHSY1 antibody for CHSY1
Protein Products
-
OriGene Purified Proteins for CHSY1
- Search Origene for MassSpec and Protein Over-expression Lysates for CHSY1
- Origene Custom Protein Services for CHSY1
- Novus Biologicals proteins for CHSY1
- antibodies-online Proteins for CHSY1: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CHSY1
-
Abcam proteins for CHSY1
Assay Products
- antibodies-online Kits for CHSY1: See all 3
No data available for DME Specific Peptides for CHSY1 Gene
Domains & Families for CHSY1 Gene
Gene Families for CHSY1 Gene
Protein Domains for CHSY1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CHSY1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q86X52UniProtKB/Swiss-Prot:
CHSS1_HUMAN :- Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
- Family:
-
- Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
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
| 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 | -- |
Phenotypes for CHSY1 Gene
- MGI mutant phenotypes for CHSY1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CHSY1:
Animal Models for CHSY1 Gene
- MGI Knock Outs for CHSY1:
-
- Chsy1 tm1Lex
Animal Model Products
-
Taconic Biosciences Mouse Models for CHSY1
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHSY1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CHSY1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CHSY1 gene
- Search ViGene Biosciences for CHSY1
CRISPR Products
-
OriGene CRISPR knockouts for CHSY1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHSY1
- GenScript: Design CRISPR guide RNA sequences for CHSY1
miRNA for CHSY1 Gene
- miRTarBase miRNAs that target CHSY1
-
- hsa-mir-124-3p (MIRT002605)
- hsa-mir-1-3p (MIRT002768)
- hsa-mir-375 (MIRT019774)
- hsa-mir-9-5p (MIRT021396)
- hsa-mir-221-3p (MIRT053702)
- hsa-mir-6807-5p (MIRT479255)
- hsa-mir-6851-5p (MIRT479256)
- hsa-mir-3689d (MIRT479257)
- hsa-mir-655-5p (MIRT479258)
- hsa-mir-4795-5p (MIRT479259)
- hsa-mir-7113-5p (MIRT479260)
- hsa-mir-9500 (MIRT479261)
- hsa-mir-6753-5p (MIRT479262)
- hsa-mir-4796-3p (MIRT479263)
- hsa-mir-93-5p (MIRT479264)
- hsa-mir-526b-3p (MIRT479265)
- hsa-mir-519d-3p (MIRT479266)
- hsa-mir-20b-5p (MIRT479267)
- hsa-mir-20a-5p (MIRT479268)
- hsa-mir-17-5p (MIRT479269)
- hsa-mir-106b-5p (MIRT479270)
- hsa-mir-106a-5p (MIRT479271)
- hsa-mir-3609 (MIRT479272)
- hsa-mir-548ah-5p (MIRT479273)
- hsa-mir-7641 (MIRT568047)
- hsa-mir-4477a (MIRT568048)
- hsa-mir-570-3p (MIRT568049)
- hsa-mir-6761-5p (MIRT568050)
- hsa-mir-4329 (MIRT568051)
- hsa-mir-4251 (MIRT568052)
- hsa-mir-3200-5p (MIRT568053)
- hsa-mir-5582-5p (MIRT568054)
- hsa-mir-3910 (MIRT568055)
- hsa-mir-3714 (MIRT568056)
- hsa-mir-7-2-3p (MIRT568057)
- hsa-mir-7-1-3p (MIRT568058)
- hsa-mir-506-3p (MIRT568059)
- hsa-mir-5096 (MIRT724622)
- hsa-mir-7150 (MIRT724623)
- hsa-mir-197-3p (MIRT724624)
- hsa-mir-4736 (MIRT724625)
- hsa-mir-4763-3p (MIRT724626)
- hsa-mir-5093 (MIRT724627)
- hsa-mir-1207-5p (MIRT724628)
- hsa-mir-657 (MIRT724629)
- hsa-mir-5197-5p (MIRT724630)
- hsa-mir-651-3p (MIRT724631)
miRNA Products
- Search ViGene Biosciences for CHSY1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CHSY1
- Browse OriGene Inhibitory RNA Products For CHSY1
-
ViGene Biosciences ready-to-package AAV shRNAs for CHSY1 gene
Clone Products
-
OriGene ORF clones in human for CHSY1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CHSY1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHSY1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CHSY1
-
ViGene Biosciences adenoviral particle packaged cDNA for CHSY1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CHSY1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CHSY1 gene
Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| golgi apparatus | 5 |
| endoplasmic reticulum | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005576 | extracellular region | IEA,IDA | 21129727 |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0016020 | membrane | IDA,IEA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for CHSY1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chondroitin sulfate/dermatan sulfate metabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Glycosaminoglycan metabolism | ||
Pathways by source for CHSY1 Gene
5 Reactome pathways for CHSY1 Gene
2 KEGG pathways for CHSY1 Gene
Interacting Proteins for CHSY1 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| BGN | ||
| CHPF | ||
| CHPF2 | ||
| CHSY3 | ||
| CSGALNACT2 |
| 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 | -- |
| GO:0030279 | negative regulation of ossification | IMP | 21129727 |
| GO:0031667 | response to nutrient levels | IEA | -- |
No data available for SIGNOR curated interactions for CHSY1 Gene
Drugs & Compounds for CHSY1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| cadmium |
|
7440-43-9 |
|
|||
| Lactosamine |
|
13000-25-4 |
|
|||
| UDP-N-acetyl-alpha-D-galactosamine |
|
|
||||
| Uridine diphosphate-N-acetylgalactosamine |
|
7277-98-7 |
|
Transcripts for CHSY1 Gene
mRNA/cDNA for CHSY1 Gene
- (4) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (166) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CHSY1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CHSY1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHSY1
- GenScript: Design CRISPR guide RNA sequences for CHSY1
miRNA Products
- Search ViGene Biosciences for CHSY1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CHSY1
- Browse OriGene Inhibitory RNA Products For CHSY1
-
ViGene Biosciences ready-to-package AAV shRNAs for CHSY1 gene
Clone Products
-
OriGene ORF clones in human for CHSY1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CHSY1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHSY1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||
| SP2: | - | - | - | ||||||||||||
| SP3: |
Expression for CHSY1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Gut Tube (Gastrointestinal Tract)
- Lung (Respiratory System)
- Neural Tube (Nervous System)
- Kidney (Urinary System)
- Bone (Muscoskeletal System)
-
Placenta (Extraembryonic Tissues)
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, MaxQB, and MOPED for CHSY1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CHSY1 Gene:
CHSY1SOURCE GeneReport for Unigene cluster for CHSY1 Gene:
Hs.110488mRNA 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(4.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CHSY1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- skeleton
Organs:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for CHSY1
-
OriGene qPCR primer pairs for CHSY1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CHSY1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CHSY 35 |
|
OneToOne | |
| CHSY1 34 |
|
||||
| dog (Canis familiaris) |
Mammalia | CHSY1 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CHSY1 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Chsy1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Chsy1 34 |
|
||
| chicken (Gallus gallus) |
Aves | CHSY1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CHSY1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | chsy1 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13395 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | chsy1 34 35 |
|
||
| Dr.11146 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG9220 36 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001010 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | sqv-5 35 |
|
OneToMany | |
| T24D1.1 36 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for CHSY1 Gene
(2) SIMAP similar genes for CHSY1 Gene using alignment to 2 proteins:
Pseudogenes.org Pseudogenes for CHSY1 Gene
Variants for CHSY1 Gene
| SNP ID | Clin | Chr 15 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs387906985 | Pathogenic, Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282] | 101,178,181(-) | GATTC(C/G)TTTGT | reference, missense | |
| rs387906984 | Pathogenic | 101,251,252(-) | GGGCG(C/T)AGCTC | reference, stop-gained | |
| rs113219895 | Likely benign | 101,178,579(+) | ATGTC(A/G)TCCAA | reference, synonymous-codon | |
| rs148193087 | Likely benign | 101,178,472(+) | CATAC(A/C/G)TGGGG | reference, missense | |
| rs150245745 | Likely benign | 101,177,709(+) | ATACA(C/T)GTGAT | reference, synonymous-codon |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHSY1 Gene
Disorders for CHSY1 Gene
(5) MalaCards diseases for CHSY1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| temtamy preaxial brachydactyly syndrome |
|
|
| brachydactyly |
|
|
| autonomic nervous system disease |
|
|
| reflex sympathetic dystrophy |
|
|
| peripheral nervous system disease |
|
|
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
No data available for Genatlas for CHSY1 Gene
Publications for CHSY1 Gene
- Molecular cloning and expression of a human chondroitin synthase. (PMID: 11514575) Kitagawa H. … Sugahara K. (J. Biol. Chem. 2001) 2 3 4 22 64
- 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 22 64
- Chondroitin sulfate synthase-3. Molecular cloning and characterization. (PMID: 12907687) Yada T. … Kimata K. (J. Biol. Chem. 2003) 3 4 22 64
- Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. (PMID: 21129727) Tian J. … Reversade B. (Am. J. Hum. Genet. 2010) 3 4 64
- 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. (Am. J. Hum. Genet. 2010) 3 4 64
Products for CHSY1 Gene
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- Browse R&D Systems for biochemical assays
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CHSY1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CHSY1
- Search Origene for MassSpec and Protein Over-expression Lysates for CHSY1
- Origene Custom Protein Services for CHSY1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CHSY1
- Browse OriGene Inhibitory RNA Products For CHSY1
- OriGene qPCR primer pairs and template standards for CHSY1
- OriGene qPCR primer pairs for CHSY1
- OriGene CRISPR knockouts for CHSY1
- OriGene ORF clones in human for CHSY1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CHSY1
- GenScript: Next-day shipping cDNA ORF clone for CHSY1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CHSY1
- GenScript Custom Assay Services for CHSY1
- GenScript Custom overexpressing Cell Line Services for CHSY1
- GenScript: Design CRISPR guide RNA sequences for CHSY1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CHSY1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CHSY1
- Novus Biologicals proteins for CHSY1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for CHSY1
- Abcam proteins for CHSY1
- Search for Assays for CHSY1 at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- Taconic Biosciences Mouse Models for CHSY1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- antibodies-online Antibodies for CHSY1: See all 35
- antibodies-online Kits for CHSY1: See all 3
- antibodies-online Proteins for CHSY1: See all 3
- Search antibodies-online for peptides
- GeneTex CHSY1 antibody for CHSY1
- Search GeneTex for Proteins for CHSY1
- ViGene Biosciences adenoviral particle packaged cDNA for CHSY1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CHSY1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CHSY1 gene
- Search ViGene Biosciences for CHSY1
- Horizon Cell Lines for CHSY1
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHSY1
- VectorBuilder custom plasmid, inducible vectors for CHSY1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHSY1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CHSY1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer