CHST3 - carbohydrate sulfotransferase 3 Gene

Also Known as HSD; C6ST; C6ST1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9469

About CHST3

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:71,964,395-72,013,558 (from NCBI)

This gene has 1 transcript (splice variant), 247 orthologues, 6 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 10.9), ovary (RPKM 8.0) and 21 other tissues.

Summary

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]

CHST3 Products (1)

mRNA Protein Name
NM_004273.5 NP_004264.2 carbohydrate sulfotransferase 3
Molecular Function GO Annotation Evidence References Source
enables chondroitin 6-sulfotransferase activity IDA
IDA: Inferred from direct assay
9883891 GOA
Biological Process GO Annotation Evidence References Source
involved in chondroitin sulfate biosynthetic process IDA
IDA: Inferred from direct assay
9883891 GOA
involved in chondroitin sulfate biosynthetic process IMP
IMP: Inferred from mutant phenotype
15215498 GOA
involved in sulfur compound metabolic process IDA
IDA: Inferred from direct assay
9883891 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

CHST3 Protein Structure

Sulfotransfer_1

Sulfotransfer_1: Sulfotransferase domain (133 - 452)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 479 a.a.
Protein Preferred Names Protein Names

carbohydrate sulfotransferase 3

  • C6ST-1

Related Diseases

Diseases Alias
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

Larsen Syndrome
  • LRS

  • Larsen Syndrome, Dominant Type

  • Dominant Larsen Syndrome

  • Autosomal Dominant Larsen Syndrome

  • Larsens Syndrome

Larsen-Like Syndrome B3gat3 Type
  • Larsen-Like Syndrome, B3gat3 Type

  • Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

  • Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

  • Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Congenital Joint Dislocations
Dysostosis
  • Dysostoses

Desbuquois Dysplasia
  • Desbuquois Syndrome

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

  • Dysplasia, Desbuquois

Clubfoot
  • Congenital Talipes Equinovarus

  • Congenital Clubfoot

  • Congenital Equinovarus

  • Equinovarus Deformity Of Foot

  • Club Foot

Ehlers-Danlos Syndrome, Musculocontractural Type, 1
  • Ehlers-Danlos Syndrome, Musculocontractural Type 1

  • EDSMC1

  • Edsmc

  • Adducted Thumb-Clubfoot Syndrome

  • Atcs

  • Dundar Syndrome

  • Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis

  • Ehlers-Danlos Syndrome Musculocontractural Type 1

  • Adducted Thumb, Clubfoot, And Progressive Joint And Skin Laxity Syndrome

  • Ehlers-Danlos Syndrome, Type Vib, Formerly

  • Eds6b, Formerly

  • Adducted Thumbs-Arthrogryposis Dundar Type

  • Arthrogryposis Distal With Peculiar Facies And Hydronephrosis

  • Eds6b Formerly

  • Ehlers-Danlos Syndrome Type Vib Formerly

  • Ehlers-Danlos, Musculocontractural Syndrome, Type 1

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

Saul-Wilson Syndrome
  • Microcephalic Osteodysplastic Dysplasia

  • Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type

  • SWILS

  • Microcephalic Osteodysplastic Dysplasia Saul Wilson Type

Macular Dystrophy, Corneal
  • Macular Corneal Dystrophy

  • MCD

  • Corneal Dystrophy, Macular Type

  • Groenouw Type Ii Corneal Dystrophy

  • Fehr Corneal Dystrophy

  • Macular Dystrophy, Corneal Type 1

  • Mcdc1

  • Macular Corneal Dystrophy Type Ii

  • Macular Corneal Dystrophy, Type Ii

  • Macular Corneal Dystrophy, Type I

  • Mcdc1, Formerly

  • Macular Dystrophy, Corneal, 1

  • Macular Corneal Dystrophy Type 1

  • Corneal Dystrophy Groenouw Type Ii

  • Corneal Dystrophy Macular Type

  • Macular Corneal Dystrophy Type I

  • Dystrophy, Macular, Corneal

Brachyolmia
  • Brachyrachia

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

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

Orthologs Information

Species Symbol Source ID
Mus musculus CHST3 MGD MGI:1858224
Felis catus CHST3 VGNC VGNC:60890
Rattus norvegicus CHST3 RGD RGD:620355
Macaca mulatta CHST3 VGNC VGNC:106024
Canis familiaris CHST3 VGNC VGNC:39255
Bos taurus CHST3 VGNC VGNC:27345
Others CHST3 NCBI