CHSY1 - chondroitin sulfate synthase 1 Gene

Also Known as CHSY; CSS1; TPBS; ChSy-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22856

About CHSY1

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:101,175,727-101,252,048 (from NCBI)

This gene has 6 transcripts (splice variants), 215 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 23.5), gall bladder (RPKM 17.8) and 24 other tissues.

Summary

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]

CHSY1 Products (1)

mRNA Protein Name
NM_014918.5 NP_055733.2 chondroitin sulfate synthase 1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity IDA
IDA: Inferred from direct assay
11514575 GOA
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IDA
IDA: Inferred from direct assay
11514575 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within chondroitin sulfate biosynthetic process IDA
IDA: Inferred from direct assay
11514575 GOA
involved in negative regulation of ossification IMP
IMP: Inferred from mutant phenotype
21129727 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular region IDA
IDA: Inferred from direct assay
21129727 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHSY1 Protein Structure

CHGN

CHGN: Chondroitin N-acetylgalactosaminyltransferase (238 - 777)

  • 0
  • 200
  • 400
  • 600
  • 802 a.a.
Protein Preferred Names Protein Names

chondroitin sulfate synthase 1

  • N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1

Related Diseases

Diseases Alias
Temtamy Preaxial Brachydactyly Syndrome

  • Preaxial Brachydactyly Syndrome, Temtamy Type

  • TPBS

  • Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies

  • Preaxial Brachydactyly Syndrome Temtamy Type
Brachydactyly
Breast Pericanalicular Fibroadenoma

  • Pericanalicular Fibroadenoma

  • Pericanalicular Fibroadenoma Of Breast
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

  • Spondyloepiphyseal Dysplasia

  • Chst3-Related Skeletal Dysplasia

  • Humerospinal Dysostosis

  • Spondyloepiphyseal Dysplasia, Omani Type

  • Chondrodysplasia With Multiple Dislocations

  • SEDCJD

  • Hsd

  • Cdmd

  • Humero-Spinal Dysostosis

  • Kozlowski Celermajer Tink Syndrome

  • Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

  • Larsen Syndrome, Recessive Type

  • Humero-Spinal Dysostosis With Congenital Heart Disease

  • Omani Type

  • Sed

  • Chst3 Deficiency

  • Chst3-Related Dysplasia

  • Recessive Larsen Syndrome

  • Autosomal Recessive Larsen Syndrome

  • Sed With Luxations, Chst3 Type

  • Sed, Omani Type

  • Sdcd, Chst3 Type

  • Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

  • Sed Omani Type

  • Spondyloepiphyseal Dysplasia Omani Type

  • Larsen Syndrome, Autosomal Recessive

  • Mucopolysaccharidosis Iv

  • Spondyloepiphyseal Dysplasia, Congenita
Astigmatism
Desbuquois Dysplasia

  • Desbuquois Syndrome

  • Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

  • Dysplasia, Desbuquois
Larsen Syndrome

  • LRS

  • Larsen Syndrome, Dominant Type

  • Dominant Larsen Syndrome

  • Autosomal Dominant Larsen Syndrome

  • Larsens Syndrome
Spondyloepimetaphyseal Dysplasia With Joint Laxity

  • Dysplasia, Spondyloepimetaphyseal, With Joint Laxity

  • Semdjl

  • Spondyloepimetaphyseal Dysplasia Joint Laxity

  • Semd-Jl

  • Semdjl1

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02695 CHSY1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta CHSY1 VGNC VGNC:70962
Canis familiaris CHSY1 VGNC VGNC:39259
Bos taurus CHSY1 VGNC VGNC:27350
Rattus norvegicus CHSY1 RGD RGD:1311904
Felis catus CHSY1 VGNC VGNC:81004
Mus musculus CHSY1 MGD MGI:2681120
Others CHSY1 NCBI