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Aliases for CHST3 Gene

Aliases for CHST3 Gene

  • Carbohydrate (Chondroitin 6) Sulfotransferase 3 2 3 5
  • Galactose/N-Acetylglucosamine/N-Acetylglucosamine 6-O-Sulfotransferase 0 3 4
  • Chondroitin 6-O-Sulfotransferase 1 3 4
  • EC 2.8.2.17 4 63
  • C6ST-1 3 4
  • GST-0 3 4
  • Chondroitin 6-Sulfotransferase 4
  • EC 2.8.2 63
  • C6ST1 3
  • C6ST 3
  • HSD 3

External Ids for CHST3 Gene

Previous GeneCards Identifiers for CHST3 Gene

  • GC10P072502
  • GC10P072827
  • GC10P073616
  • GC10P073068
  • GC10P073394
  • GC10P073724
  • GC10P067718

Summaries for CHST3 Gene

Entrez Gene Summary for CHST3 Gene

  • 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]

GeneCards Summary for CHST3 Gene

CHST3 (Carbohydrate (Chondroitin 6) Sulfotransferase 3) is a Protein Coding gene. Diseases associated with CHST3 include spondyloepiphyseal dysplasia with congenital joint dislocations and larsen syndrome, autosomal recessive. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include sulfotransferase activity and chondroitin 6-sulfotransferase activity. An important paralog of this gene is CHST2.

UniProtKB/Swiss-Prot for CHST3 Gene

  • Sulfotransferase that utilizes 3-phospho-5-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 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. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHST3 Gene

Genomics for CHST3 Gene

Regulatory Elements for CHST3 Gene

Promoters for CHST3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHST3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHST3 Gene

Chromosome:
10
Start:
71,964,362 bp from pter
End:
72,013,564 bp from pter
Size:
49,203 bases
Orientation:
Plus strand

Genomic View for CHST3 Gene

Genes around CHST3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHST3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHST3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHST3 Gene

Proteins for CHST3 Gene

  • Protein details for CHST3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7LGC8-CHST3_HUMAN
    Recommended name:
    Carbohydrate sulfotransferase 3
    Protein Accession:
    Q7LGC8
    Secondary Accessions:
    • O75099
    • Q52M30

    Protein attributes for CHST3 Gene

    Size:
    479 amino acids
    Molecular mass:
    54706 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CHST3 Gene

Proteomics data for CHST3 Gene at MOPED

Selected DME Specific Peptides for CHST3 Gene

Post-translational modifications for CHST3 Gene

  • Glycosylation at Asn 63, Asn 74, Asn 96, Asn 256, Asn 420, and Asn 464
  • Modification sites at PhosphoSitePlus

Other Protein References for CHST3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CHST3 (Carbohydrate Sulfotransferase 3/CHST3)

Domains & Families for CHST3 Gene

Gene Families for CHST3 Gene

Protein Domains for CHST3 Gene

Suggested Antigen Peptide Sequences for CHST3 Gene

Graphical View of Domain Structure for InterPro Entry

Q7LGC8

UniProtKB/Swiss-Prot:

CHST3_HUMAN :
  • Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
Family:
  • Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
genes like me logo Genes that share domains with CHST3: view

Function for CHST3 Gene

Molecular function for CHST3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-phosphoadenylyl sulfate + chondroitin = adenosine 3,5-bisphosphate + chondroitin 6-sulfate.
UniProtKB/Swiss-Prot Function:
Sulfotransferase that utilizes 3-phospho-5-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 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. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen.

Enzyme Numbers (IUBMB) for CHST3 Gene

Gene Ontology (GO) - Molecular Function for CHST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050698 proteoglycan sulfotransferase activity IEA --
genes like me logo Genes that share ontologies with CHST3: view
genes like me logo Genes that share phenotypes with CHST3: view

Human Phenotype Ontology for CHST3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHST3 Gene

MGI Knock Outs for CHST3:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for CHST3 Gene

Localization for CHST3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHST3 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHST3 Gene COMPARTMENTS Subcellular localization image for CHST3 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
mitochondrion 1
nucleus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for CHST3 Gene

Pathways & Interactions for CHST3 Gene

genes like me logo Genes that share pathways with CHST3: view

Interacting Proteins for CHST3 Gene

Gene Ontology (GO) - Biological Process for CHST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0005975 carbohydrate metabolic process IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0030206 chondroitin sulfate biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with CHST3: view

No data available for SIGNOR curated interactions for CHST3 Gene

Drugs & Compounds for CHST3 Gene

(3) Drugs for CHST3 Gene - From: Novoseek, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1844
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, Immunomodulatory agents, TNF-alpha synthesis inhibitor 808
Chondroitin Nutra 40

(13) Additional Compounds for CHST3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
1053-73-2
Chondroitin 6'-sulfate
Keratan
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • Kerato 6'-sulfate
69992-87-6
n-acetyllactosamine
  • beta-D-Galactosyl-1,4-N-acetyl-beta-D-glucosamine
  • beta-D-Galactosyl-1,4-N-acetyl-D-glucosamine
  • beta-delta-Galactosyl-1,4-N-acetyl-beta-delta-glucosamine
  • beta-delta-Galactosyl-1,4-N-acetyl-delta-glucosamine
  • D-Galactopyranosyl
32181-59-2
Phosphoadenosine phosphosulfate
  • 3'-Phospho-5'-adenylyl sulfate
  • 3'-Phospho-5'-adenylyl sulphate
  • 3'-Phosphoadenosine 5'-phosphosulfate
  • 3'-Phosphoadenosine 5'-phosphosulphate
  • 3'-Phosphoadenosine-5'-phosphosulfate
482-67-7
genes like me logo Genes that share compounds with CHST3: view

Transcripts for CHST3 Gene

mRNA/cDNA for CHST3 Gene

Unigene Clusters for CHST3 Gene

Carbohydrate (chondroitin 6) sulfotransferase 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHST3 Gene

No ASD Table

Relevant External Links for CHST3 Gene

GeneLoc Exon Structure for
CHST3
ECgene alternative splicing isoforms for
CHST3

Expression for CHST3 Gene

mRNA expression in normal human tissues for CHST3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHST3 Gene

This gene is overexpressed in Monocytes (25.9), Colon muscle (17.2), Testis (14.5), and Platelet (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHST3 Gene



SOURCE GeneReport for Unigene cluster for CHST3 Gene Hs.158304

mRNA Expression by UniProt/SwissProt for CHST3 Gene

Q7LGC8-CHST3_HUMAN
Tissue specificity: Widely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas. Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix.
genes like me logo Genes that share expression patterns with CHST3: view

Protein tissue co-expression partners for CHST3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CHST3 Gene

Orthologs for CHST3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHST3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHST3 36
  • 100 (a)
OneToOne
CHST3 35
  • 99.79 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CHST3 36
  • 88 (a)
OneToOne
CHST3 35
  • 87.11 (n)
  • 88.24 (a)
dog
(Canis familiaris)
Mammalia CHST3 35
  • 90.08 (n)
  • 90.57 (a)
CHST3 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chst3 16
Chst3 36
  • 86 (a)
OneToOne
Chst3 35
  • 85.17 (n)
  • 86.65 (a)
oppossum
(Monodelphis domestica)
Mammalia CHST3 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chst3 35
  • 86.08 (n)
  • 86.29 (a)
chicken
(Gallus gallus)
Aves CHST3 35
  • 80.27 (n)
  • 78.27 (a)
CHST3 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHST3 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chst3 35
  • 65.65 (n)
  • 73.91 (a)
zebrafish
(Danio rerio)
Actinopterygii chst3a 36
  • 58 (a)
OneToMany
chst3b 36
  • 54 (a)
OneToMany
chst3b 35
  • 69.66 (n)
  • 61.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31637 36
  • 18 (a)
ManyToMany
CG9550 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
-- 36
  • 22 (a)
ManyToMany
-- 36
  • 20 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
CSA.5535 36
  • 21 (a)
ManyToMany
Species with no ortholog for CHST3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CHST3 Gene

ENSEMBL:
Gene Tree for CHST3 (if available)
TreeFam:
Gene Tree for CHST3 (if available)

Paralogs for CHST3 Gene

Paralogs for CHST3 Gene

(4) SIMAP similar genes for CHST3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CHST3: view

Variants for CHST3 Gene

Sequence variations from dbSNP and Humsavar for CHST3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs28937593 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) 72,007,942(+) CCCCC(A/G)GGCCG reference, missense
rs3740128 - 72,008,075(+) AGCAT(C/G)CGCCT reference, missense
rs3740129 - 72,008,101(+) GCTGC(A/G)GCAGC reference, missense
VAR_047856 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)
VAR_047857 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)

Structural Variations from Database of Genomic Variants (DGV) for CHST3 Gene

Variant ID Type Subtype PubMed ID
nsv895717 CNV Loss 21882294
nsv895718 CNV Loss 21882294
nsv7110 CNV Insertion 18451855
nsv895719 CNV Loss 21882294
nsv820285 CNV Loss 19587683

Variation tolerance for CHST3 Gene

Residual Variation Intolerance Score: 31.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.06; 84.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHST3 Gene

HapMap Linkage Disequilibrium report
CHST3
Human Gene Mutation Database (HGMD)
CHST3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHST3 Gene

Disorders for CHST3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CHST3 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondyloepiphyseal dysplasia with congenital joint dislocations
  • mucopolysaccharidosis iv
larsen syndrome, autosomal recessive
ehlers-danlos syndrome, progeroid type, 2
  • ehlers-danlos syndrome, progeroid type 2
epiphyseal chondrodysplasia, miura type
  • ecdm
larsen syndrome
  • dominant larsen syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CHST3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHST3_HUMAN
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]: A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. {ECO:0000269 PubMed:15215498, ECO:0000269 PubMed:18513679}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHST3

Genetic Association Database (GAD)
CHST3
Human Genome Epidemiology (HuGE) Navigator
CHST3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHST3
genes like me logo Genes that share disorders with CHST3: view

No data available for Genatlas for CHST3 Gene

Publications for CHST3 Gene

  1. Molecular cloning and expression of human chondroitin 6- sulfotransferase. (PMID: 9714738) Fukuta M. … Habuchi O. (Biochim. Biophys. Acta 1998) 2 3 4 23 67
  2. Functional expression and genomic structure of human chondroitin 6- sulfotransferase. (PMID: 9883891) Tsutsumi K. … Sugahara K. (FEBS Lett. 1998) 2 3 23
  3. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. (PMID: 19320654) Tuysuz B. … Turkmen S. (Clin. Genet. 2009) 3 23
  4. Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1. (PMID: 18697746) Kitagawa H. … Sugahara K. (J. Biol. Chem. 2008) 3 23
  5. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (PMID: 18513679) Hermanns P. … Superti-Furga A. (Am. J. Hum. Genet. 2008) 3 23

Products for CHST3 Gene

Sources for CHST3 Gene

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