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
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (71964395..72013558)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (72835220..72884391)
RS_2024_09	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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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
Title: Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
Dampening HOTAIR sensitizes the gastric cancer cells to oxaliplatin through miR-195-5p and ABCG2 pathway.
Title: Dampening HOTAIR sensitizes the gastric cancer cells to oxaliplatin through miR-195-5p and ABCG2 pathway.
CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Title: CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
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.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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: Nonsyndromic Hypertrophic Cardiomyopathy Overview, Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related	Compare labs
Spondyloepiphyseal dysplasia with congenital joint dislocations MedGen: C1837657 OMIM: 143095 GeneReviews: Long QT Syndrome Overview, Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related	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)

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

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

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
enables chondroitin 6-sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables chondroitin 6-sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables chondroitin 6-sulfotransferase activity	IEA Inferred from Electronic Annotation more info
enables chondroitin 6-sulfotransferase activity	TAS Traceable Author Statement more info
enables proteoglycan sulfotransferase activity	IEA Inferred from Electronic Annotation more info
enables sulfotransferase activity	IEA Inferred from Electronic Annotation more info
enables transferase 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
acts_upstream_of_or_within 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 proteoglycan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in chondroitin sulfate proteoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in chondroitin sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sulfur compound metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sulfur compound metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation 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

XP_054223177.1

EC 2.8.2.17

EC 2.8.2.21

XP_054223178.1

EC 2.8.2.17

EC 2.8.2.21

XP_054223179.1

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.

Genomic

NG_012635.1 RefSeqGene

Range

5034..54197

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004273.5 → NP_004264.2 carbohydrate sulfotransferase 3

See identical proteins and their annotated locations for NP_004264.2

Status: REVIEWED

Source sequence(s)

AB017915, AC022392, AI041015

Consensus CDS

CCDS7312.1

UniProtKB/Swiss-Prot

O75099, Q52M30, Q7LGC8

Related

ENSP00000362207.4, ENST00000373115.5

Conserved Domains (1) summary

pfam00685
Location:265 → 452

Sulfotransfer_1; Sulfotransferase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

71964395..72013558

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426022.1 → XP_047281978.1 carbohydrate sulfotransferase 3 isoform X1

UniProtKB/Swiss-Prot

O75099, Q52M30, Q7LGC8
XM_006718075.5 → XP_006718138.1 carbohydrate sulfotransferase 3 isoform X1

See identical proteins and their annotated locations for XP_006718138.1

UniProtKB/Swiss-Prot

O75099, Q52M30, Q7LGC8

Conserved Domains (1) summary

pfam00685
Location:265 → 452

Sulfotransfer_1; Sulfotransferase domain
XM_011540369.3 → XP_011538671.1 carbohydrate sulfotransferase 3 isoform X1

See identical proteins and their annotated locations for XP_011538671.1

UniProtKB/Swiss-Prot

O75099, Q52M30, Q7LGC8

Conserved Domains (1) summary

pfam00685
Location:265 → 452

Sulfotransfer_1; Sulfotransferase domain

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

72835220..72884391

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054367202.1 → XP_054223177.1 carbohydrate sulfotransferase 3 isoform X1

UniProtKB/Swiss-Prot

O75099, Q52M30, Q7LGC8
XM_054367204.1 → XP_054223179.1 carbohydrate sulfotransferase 3 isoform X1

UniProtKB/Swiss-Prot

O75099, Q52M30, Q7LGC8
XM_054367203.1 → XP_054223178.1 carbohydrate sulfotransferase 3 isoform X1

UniProtKB/Swiss-Prot

O75099, Q52M30, Q7LGC8