CHST6 carbohydrate sulfotransferase 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHST6provided by HGNC
Official Full Name: carbohydrate sulfotransferase 6provided by HGNC
Primary source: HGNC:HGNC:6938
See related: Ensembl:ENSG00000183196 MIM:605294; AllianceGenome:HGNC:6938
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: MCDC1; gn6st-5; hCGn6ST; GST4-beta; C-GlcNAc6ST; glcNAc6ST-5
Summary: The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
Expression: Biased expression in brain (RPKM 2.4), adrenal (RPKM 0.7) and 12 other tissues See more
Orthologs: all
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Genomic context

Location:: 16q23.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (75472042..75495441, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (81520232..81543637, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (75505940..75529339, complement)

Chromosome 16 - NC_000016.10 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?

The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren's Contracture.
Title: The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren's Contracture.
Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty.
Title: Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty.
Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.
Title: Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.
CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.
Title: CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.
vast majority of variants likely to be protein-damaging
Title: A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.
This is the first molecular analysis of TGFBI and CHST6 in Turkish patients with different types of corneal dystrophies.
Title: Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.
E71Q mutation results in a non-conservative amino acid change in a highly conserved functional domain of the human CHST6 that is essential for enzyme activity as the cause of Macular corneal dystrophy.
Title: Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.
Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy.
Title: Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.
Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys).
Title: Macular corneal dystrophy and associated corneal thinning.
This novel gene mutation expands the mutation spectrum of the CHST6 gene and contributes to the study of molecular pathogenesis of corneal dystrophy.
Title: A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.

Submit: New GeneRIF Correction See all GeneRIFs (39)

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
Macular corneal dystrophy MedGen: C1636149 OMIM: 217800 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. 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

L17688 (e-PCR)
- UniSTS:74509

NoName (e-PCR)
- UniSTS:482067

GDB:313261 (e-PCR)
- UniSTS:156445

NoName (e-PCR)
- UniSTS:480557

D5S2354 (e-PCR)
- UniSTS:473392

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

RH36905 (e-PCR)
- UniSTS:87932

L17877 (e-PCR)
- UniSTS:61334

D22S296 (e-PCR)
- UniSTS:147641

L17971 (e-PCR)
- UniSTS:43966

SHGC-144645 (e-PCR)
- UniSTS:174291

GDB:631802 (e-PCR)
- UniSTS:158429

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 N-acetylglucosamine 6-O-sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-acetylglucosamine 6-O-sulfotransferase activity	TAS Traceable Author Statement more info	PubMed
enables keratan sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in N-acetylglucosamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in N-acetylglucosamine metabolic process	IC Inferred by Curator more info	PubMed
involved_in N-acetylglucosamine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in keratan sulfate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratan sulfate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in keratan 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 apparatus	TAS Traceable Author Statement more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: carbohydrate sulfotransferase 6

Names: N-acetylglucosamine 6-O-sulfotransferase 5; N-acetylglucosamine 6-sulfotransferase; carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6; corneal N-acetylglucosamine 6-sulfotransferase; corneal N-acetylglucosamine-6-O-sulfotransferase; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta

NP_067628.1

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.