CHSY1 - chondroitin sulfate synthase 1 Gene

Homo sapiens

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

Gene ID: 22856 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

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

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