CHST11 - carbohydrate sulfotransferase 11 Gene

Homo sapiens

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

Gene ID: 50515 | Gene type: protein coding

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

CHST11 Protein Structure

Sulfotransfer_2

0
100
200
300
352 a.a.

Protein Preferred Names

Protein Names

carbohydrate sulfotransferase 11

C4S-1

Recombinant CHST11 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76257	CHST11 Protein, Human (sf9, His)	Q9NPF2-2 (M36-E347)	≥95%

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

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