CHST11 - carbohydrate sulfotransferase 11 Gene

Also Known as C4ST; C4ST1; OCBMD; C4ST-1; HSA269537

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 50515

About CHST11

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:104,456,948-104,762,014 (from NCBI)

This gene has 6 transcripts (splice variants), 197 orthologues, 6 paralogues and is associated with 63 phenotypes. Ubiquitous expression in appendix (RPKM 8.6), brain (RPKM 8.5) and 23 other tissues.

Summary

The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

CHST11 Products (2)

mRNA Protein Name
NM_001173982.2 NP_001167453.1 carbohydrate sulfotransferase 11 isoform 2
NM_018413.6 NP_060883.1 carbohydrate sulfotransferase 11 isoform 1
Molecular Function GO Annotation Evidence Verweise Source
enables N-acetylgalactosamine 4-O-sulfotransferase activity IDA
IDA: Inferred from direct assay
11056388 GOA
enables chondroitin 4-sulfotransferase activity IDA
IDA: Inferred from direct assay
11056388 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in chondroitin sulfate biosynthetic process IDA
IDA: Inferred from direct assay
11056388 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

CHST11 Protein Structure

Sulfotransfer_2

Sulfotransfer_2: Sulfotransferase family (109 - 344)

  • 0
  • 100
  • 200
  • 300
  • 352 a.a.
Protein Preferred Names Protein Names

carbohydrate sulfotransferase 11

  • C4S-1

Recombinant CHST11 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P76257 CHST11 Protein, Human (sf9, His) Q9NPF2-2 (M36-E347) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
  • OCBMD

Mucinoses
Brachydactyly
Costello Syndrome
  • Faciocutaneoskeletal Syndrome

  • Fcs Syndrome

  • Congenital Myopathy With Excess Of Muscle Spindles

  • CSTLO

  • CMEMS

  • Fcss

  • Myopathy, Congenital, With Excess Of Muscle Spindles

Progressive Pseudorheumatoid Dysplasia
  • Progressive Pseudorheumatoid Arthropathy Of Childhood

  • Arthropathy, Progressive Pseudorheumatoid, Of Childhood

  • Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy

  • Ppd

  • Ppac

  • Sedt-Pa

  • Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome

  • PPRD

  • Progressive Pseudorheumatoid Chondrodysplasia

  • Spondyloepiphyseal Dysplasia Tarda - Progressive Arthropathy

  • Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy

  • Dysplasia, Pseudorheumatoid, Progressive

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

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

Scoliosis
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
Rattus norvegicus CHST11 RGD RGD:1308400
Canis familiaris CHST11 VGNC VGNC:39251
Felis catus CHST11 VGNC VGNC:83532
Mus musculus CHST11 MGD MGI:1927166
Bos taurus CHST11 VGNC VGNC:27339
Macaca mulatta CHST11 VGNC VGNC:82123
Others CHST11 NCBI