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Aliases for CHST6 Gene

Aliases for CHST6 Gene

  • Carbohydrate (N-Acetylglucosamine 6-O) Sulfotransferase 6 2 3
  • Galactose/N-Acetylglucosamine/N-Acetylglucosamine 6-O-Sulfotransferase 4-Beta 3 4
  • Corneal N-Acetylglucosamine-6-O-Sulfotransferase 3 4
  • N-Acetylglucosamine 6-O-Sulfotransferase 5 3 4
  • GlcNAc6ST-5 3 4
  • C-GlcNAc6ST 3 4
  • GST4-Beta 3 4
  • Gn6st-5 3 4
  • HCGn6ST 3 4
  • Corneal N-Acetylglucosamine 6-Sulfotransferase 3
  • EC 2.8.2.21 63
  • EC 2.8.2.17 63
  • EC 2.8.2.- 4
  • EC 2.8.2 63
  • MCDC1 3

External Ids for CHST6 Gene

Previous HGNC Symbols for CHST6 Gene

  • MCDC1

Previous GeneCards Identifiers for CHST6 Gene

  • GC16M066440
  • GC16M076471
  • GC16M075245
  • GC16M075286
  • GC16M074064
  • GC16M075508
  • GC16M061258

Summaries for CHST6 Gene

Entrez Gene Summary for CHST6 Gene

  • 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]

GeneCards Summary for CHST6 Gene

CHST6 (Carbohydrate (N-Acetylglucosamine 6-O) Sulfotransferase 6) is a Protein Coding gene. Diseases associated with CHST6 include macular corneal dystrophy and tyrosinemia, type ii. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include sulfotransferase activity and N-acetylglucosamine 6-O-sulfotransferase activity. An important paralog of this gene is CHST2.

UniProtKB/Swiss-Prot for CHST6 Gene

  • Sulfotransferase that utilizes 3-phospho-5-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non-reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine structures.

Gene Wiki entry for CHST6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHST6 Gene

Genomics for CHST6 Gene

Regulatory Elements for CHST6 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CHST6 Gene

Chromosome:
16
Start:
75,472,052 bp from pter
End:
75,495,434 bp from pter
Size:
23,383 bases
Orientation:
Minus strand

Genomic View for CHST6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHST6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHST6 Gene

Proteins for CHST6 Gene

  • Protein details for CHST6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZX3-CHST6_HUMAN
    Recommended name:
    Carbohydrate sulfotransferase 6
    Protein Accession:
    Q9GZX3
    Secondary Accessions:
    • D3DUK3

    Protein attributes for CHST6 Gene

    Size:
    395 amino acids
    Molecular mass:
    44099 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CHST6 Gene

Proteomics data for CHST6 Gene at MOPED

Selected DME Specific Peptides for CHST6 Gene

Post-translational modifications for CHST6 Gene

  • Glycosylation at Asn 116, Asn 229, Asn 305, and Asn 328
  • Modification sites at PhosphoSitePlus

Other Protein References for CHST6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for CHST6 Gene

Gene Families for CHST6 Gene

Protein Domains for CHST6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9GZX3

UniProtKB/Swiss-Prot:

CHST6_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 CHST6: view

Function for CHST6 Gene

Molecular function for CHST6 Gene

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 non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non-reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine structures.

Enzyme Numbers (IUBMB) for CHST6 Gene

Gene Ontology (GO) - Molecular Function for CHST6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001517 N-acetylglucosamine 6-O-sulfotransferase activity TAS 11181564
GO:0008146 sulfotransferase activity --
genes like me logo Genes that share ontologies with CHST6: view

Phenotypes for CHST6 Gene

GenomeRNAi human phenotypes for CHST6:
genes like me logo Genes that share phenotypes with CHST6: view

Animal Model Products

CRISPR Products

miRNA for CHST6 Gene

miRTarBase miRNAs that target CHST6

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CHST6 Gene

Localization for CHST6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHST6 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHST6 Gene COMPARTMENTS Subcellular localization image for CHST6 gene
Compartment Confidence
golgi apparatus 5
vacuole 2
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for CHST6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus TAS 11181564
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with CHST6: view

Pathways & Interactions for CHST6 Gene

genes like me logo Genes that share pathways with CHST6: view

Pathways by source for CHST6 Gene

Interacting Proteins for CHST6 Gene

Gene Ontology (GO) - Biological Process for CHST6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006044 N-acetylglucosamine metabolic process IDA 11352640
GO:0006790 sulfur compound metabolic process IDA 11352640
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0030203 glycosaminoglycan metabolic process TAS --
genes like me logo Genes that share ontologies with CHST6: view

No data available for SIGNOR curated interactions for CHST6 Gene

Drugs & Compounds for CHST6 Gene

(6) Additional Compounds for CHST6 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Keratan
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • Kerato 6'-sulfate
69992-87-6
Poly-N-acetyllactosamine
  • 2-(Acetylamino)-2-deoxy-4-O-beta-D-galactopyranosyl-D-Glucose
  • 2-(Acetylamino)-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose homopolymer
  • N-Acetyl-4-O-beta-D-galactopyranosyl-D-glucosamine
  • N-Acetyl-lactosamine
  • O-beta-D-Galactopyranosyl-(14)-2-deoxy-2-acetamido-D-glucose
82441-98-3
Galactose
keratan sulfate
N-acetylglucosamine
genes like me logo Genes that share compounds with CHST6: view

Transcripts for CHST6 Gene

Unigene Clusters for CHST6 Gene

Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHST6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHST6 Gene

No ASD Table

Relevant External Links for CHST6 Gene

GeneLoc Exon Structure for
CHST6
ECgene alternative splicing isoforms for
CHST6

Expression for CHST6 Gene

mRNA expression in normal human tissues for CHST6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHST6 Gene

This gene is overexpressed in Cervix - Endocervix (x5.4) and Brain - Spinal cord (cervical c-1) (x4.3).

Protein differential expression in normal tissues from HIPED for CHST6 Gene

This gene is overexpressed in Oral epithelium (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHST6 Gene



SOURCE GeneReport for Unigene cluster for CHST6 Gene Hs.655622

mRNA Expression by UniProt/SwissProt for CHST6 Gene

Q9GZX3-CHST6_HUMAN
Tissue specificity: Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea.
genes like me logo Genes that share expression patterns with CHST6: view

Protein tissue co-expression partners for CHST6 Gene

Primer Products

In Situ Assay Products

Orthologs for CHST6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHST6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHST6 35
  • 86.6 (n)
  • 88.8 (a)
-- 36
  • 88 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CHST6 35
  • 88.21 (n)
  • 88.8 (a)
-- 36
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Chst5 35
  • 81.43 (n)
  • 83.04 (a)
Chst5 36
  • 83 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CHST6 35
  • 99.58 (n)
  • 99.49 (a)
CHST6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chst5 35
  • 80.76 (n)
  • 82.53 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 74 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves CHST6 35
  • 61.76 (n)
  • 65.89 (a)
-- 36
  • 64 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia chst6 35
  • 59.21 (n)
  • 64.02 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc64166 35
zgc:194879 35
  • 57.6 (n)
  • 57.42 (a)
CHST5 36
  • 54 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7498 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009809 35
  • 45.14 (n)
  • 29.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31637 35
  • 48.23 (n)
  • 33.69 (a)
CG31637 36
  • 18 (a)
ManyToMany
CG9550 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
-- 36
  • 21 (a)
ManyToMany
-- 36
  • 20 (a)
ManyToMany
-- 36
  • 27 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
CSA.5535 36
  • 20 (a)
ManyToMany
Species with no ortholog for CHST6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 CHST6 Gene

ENSEMBL:
Gene Tree for CHST6 (if available)
TreeFam:
Gene Tree for CHST6 (if available)

Paralogs for CHST6 Gene

Paralogs for CHST6 Gene

(6) SIMAP similar genes for CHST6 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CHST6: view

Variants for CHST6 Gene

Sequence variations from dbSNP and Humsavar for CHST6 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs37605 -- 75,472,674(-) CCTAG(C/G)TTTGT downstream-variant-500B
rs37606 -- 75,474,275(+) cacag(A/G)tgggg utr-variant-3-prime
rs42967 -- 75,476,674(+) agaca(A/G)cactg utr-variant-3-prime, downstream-variant-500B
rs100912 -- 75,486,019(-) TAAGG(C/T)TGGAA intron-variant
rs185053 -- 75,476,314(+) tggga(A/G)gctga utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CHST6 Gene

Variant ID Type Subtype PubMed ID
dgv902e1 CNV Complex 17122850
nsv525955 CNV Loss 19592680
nsv457521 CNV Gain 19166990
esv1007873 CNV Gain 20482838
esv2714710 CNV Deletion 23290073
esv2672875 CNV Deletion 23128226
nsv516675 CNV Gain+Loss 19592680
dgv2913n71 CNV Gain 21882294
nsv906917 CNV Gain+Loss 21882294

Variation tolerance for CHST6 Gene

Residual Variation Intolerance Score: 8.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 43.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHST6 Gene

HapMap Linkage Disequilibrium report
CHST6
Human Gene Mutation Database (HGMD)
CHST6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHST6 Gene

Disorders for CHST6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CHST6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
macular corneal dystrophy
  • fehr corneal dystrophy
tyrosinemia, type ii
  • tyrosinemia type ii
irregular astigmatism
corneal disease
  • corneal diseases
chandler syndrome
  • endothelial corneal dystrophy
- elite association
Search CHST6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHST6_HUMAN
  • Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]: An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined. {ECO:0000269 PubMed:11017086, ECO:0000269 PubMed:11139648, ECO:0000269 PubMed:11818380, ECO:0000269 PubMed:12218059, ECO:0000269 PubMed:12824236, ECO:0000269 PubMed:12882769, ECO:0000269 PubMed:12882775, ECO:0000269 PubMed:12883341, ECO:0000269 PubMed:14609920, ECO:0000269 PubMed:14735064, ECO:0000269 PubMed:14984470, ECO:0000269 PubMed:15013869, ECO:0000269 PubMed:15652851}. Note=The disease is caused by mutations affecting the gene represented in this entry. CHST6 homozygous missense mutations have been observed in patients with macular corneal dystrophy type I, while type II patients show a large deletion and replacement in the upstream region of CHST6. The only missense mutation for type II is Cys-50, which is heterozygous with a replacement in the upstream region on the other allele of CHST6.

Relevant External Links for CHST6

Genetic Association Database (GAD)
CHST6
Human Genome Epidemiology (HuGE) Navigator
CHST6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHST6
genes like me logo Genes that share disorders with CHST6: view

No data available for Genatlas for CHST6 Gene

Publications for CHST6 Gene

  1. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. (PMID: 11017086) Akama T.O. … Fukuda M.N. (Nat. Genet. 2000) 2 23 67
  2. Molecular genetic study of Egyptian patients with macular corneal dystrophy. (PMID: 19734134) El-Ashry M.F. … Bhattacharya S.S. (Br J Ophthalmol 2010) 23 67
  3. [Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family]. (PMID: 20388351) Qi Y.H. … Huang S.Z. (Zhonghua Yan Ke Za Zhi 2010) 23 67
  4. Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy. (PMID: 19223992) Birgani S.A. … Mozafarzadeh Z. (Mol. Vis. 2009) 23 67
  5. Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (PMID: 19204788) Sultana A. … Kannabiran C. (Mol. Vis. 2009) 23 67

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