CHST3 carbohydrate sulfotransferase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHST3provided by HGNC
Official Full Name: carbohydrate sulfotransferase 3provided by HGNC
Primary source: HGNC:HGNC:1971
See related: Ensembl:ENSG00000122863 MIM:603799; AllianceGenome:HGNC:1971
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HSD; C6ST; C6ST1
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]
Expression: Broad expression in testis (RPKM 10.9), ovary (RPKM 8.0) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (71964395..72013558)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (72835220..72884391)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (73724153..73773316)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
Title: Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
Chondroitin 6-sulfate represses keratinocyte proliferation in mouse skin, which is associated with psoriasis.
Title: Chondroitin 6-sulfate represses keratinocyte proliferation in mouse skin, which is associated with psoriasis.
Lysophosphatidic acid receptor 5 transactivation of TGFBR1 stimulates the mRNA expression of proteoglycan synthesizing genes XYLT1 and CHST3.
Title: Lysophosphatidic acid receptor 5 transactivation of TGFBR1 stimulates the mRNA expression of proteoglycan synthesizing genes XYLT1 and CHST3.
Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease.
Title: Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease.
We show that the CHST3 and CHST13 alleles are significantly more frequent in pulmonary arterial hypertension patients with elevated aminotransferases during therapy with bosentan than those in patients without liver injury. This is the first pharmacogenomics study linking proteoglycan sulfating genes to drug-induced liver dysfunction.
Title: CHST3 and CHST13 polymorphisms as predictors of bosentan-induced liver toxicity in Japanese patients with pulmonary arterial hypertension.
We describe three consanguineous Indian families with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). It is an autosomal recessive disorder due to mutation in CHST3 gene.
Title: Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss has been described in a consanguineous Pakistani pedigree.
Title: A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
Sequencing of CHST3 detected a previously unreported homozygous duplication c.407_426dup (p.Thr143Cysfs*80). The mutation is predicted to lead to frameshift and introduction of a premature stopcodon.
Title: Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).
expression of CHST3 mRNA was significantly reduced in the intervertebral disc cells of subjects carrying the A allele of rs4148941
Title: Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.
The results of this study indicated that the critical period for cortical plasticity is regulated by the 4S/6S ratio of CSPGs, which determines the maturation of parvalbumin-expressing interneurons.
Title: Persistent cortical plasticity by upregulation of chondroitin 6-sulfation.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Larsen-like syndrome, B3GAT3 type MedGen: C3278404 OMIM: 245600 GeneReviews: Hypertrophic Cardiomyopathy Overview, CHST3-Related Skeletal Dysplasia	Compare labs
Spondyloepiphyseal dysplasia with congenital joint dislocations MedGen: C1837657 OMIM: 143095 GeneReviews: Long QT Syndrome, CHST3-Related Skeletal Dysplasia	Compare labs

EBI GWAS Catalog

Description
Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Sulfate is linked to the carbohydrate chains of HIV-1 glycoproteins gp160, gp120, and gp41 during the endoplasmic reticulum to Golgi transport of the glycoproteins	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S218 (e-PCR), detects polymorphism
- UniSTS:3686

D10S218 (e-PCR), detects polymorphism
- UniSTS:67977

NoName (e-PCR)
- UniSTS:483501

RH65787 (e-PCR)
- UniSTS:52684

Homology

Homologs of the CHST3 gene: The CHST3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 468 organisms have orthologs with human gene CHST3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetylglucosamine 6-O-sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables chondroitin 6-sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables chondroitin 6-sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables chondroitin 6-sulfotransferase activity	TAS Traceable Author Statement more info
enables proteoglycan sulfotransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in N-acetylglucosamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in T cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in chondroitin sulfate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in chondroitin sulfate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondroitin sulfate biosynthetic process	TAS Traceable Author Statement more info
involved_in sulfur compound metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: carbohydrate sulfotransferase 3

Names: C6ST-1; GST-0; carbohydrate (chondroitin 6) sulfotransferase 3; chondroitin 6 sulfotransferase 1; chondroitin 6-O-sulfotransferase 1; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0

NP_004264.2

EC 2.8.2.17

EC 2.8.2.21

XP_006718138.1

EC 2.8.2.17

EC 2.8.2.21

XP_011538671.1

EC 2.8.2.17

EC 2.8.2.21

XP_047281978.1

EC 2.8.2.17

EC 2.8.2.21

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.