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Aliases for CHST6 Gene

Aliases for CHST6 Gene

  • Carbohydrate Sulfotransferase 6 2 3 5
  • Galactose/N-Acetylglucosamine/N-Acetylglucosamine 6-O-Sulfotransferase 4-Beta 3 4
  • Carbohydrate (N-Acetylglucosamine 6-O) Sulfotransferase 6 2 3
  • 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
  • N-Acetylglucosamine 6-Sulfotransferase 3
  • EC 2.8.2.21 56
  • EC 2.8.2.17 56
  • EC 2.8.2.- 4
  • EC 2.8.2 56
  • 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 Sulfotransferase 6) is a Protein Coding gene. Diseases associated with CHST6 include Macular Dystrophy, Corneal and Corneal Dystrophy. Among its related pathways are Keratan sulfate/keratin metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and N-acetylglucosamine 6-O-sulfotransferase activity. An important paralog of this gene is CHST5.

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

Additional gene information for CHST6 Gene

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

Genomics for CHST6 Gene

GeneHancer (GH) Regulatory Elements for CHST6 Gene

Promoters and enhancers for CHST6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I075495 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 550.8 0.0 -3 0.7 SP5 POLR2A MBD1 EZH2 CHST6 ADAT1 ENSG00000273971 ENSG00000203472
GH16I075494 Enhancer 0.5 ENCODE dbSUPER 550.8 +0.5 456 0.2 EZH2 CHST6 ENSG00000203472
GH16I075516 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 12.2 -21.6 -21579 2 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B LOC100420067 ADAT1 TMEM231 RFWD3 CHST6 GABARAPL2 KARS CHST5
GH16I075471 Enhancer 1.1 Ensembl ENCODE 12.4 +23.1 23134 1.9 ELF3 PKNOX1 RB1 ARID4B ZNF2 RAD21 RFX5 SLC30A9 ZNF143 ZNF391 ENSG00000261783 WDR59 CHST6 CHST5 TMEM231 ENSG00000252122 GABARAPL2 CFDP1 ENSG00000203472 TMEM170A
GH16I075420 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.9 +74.2 74219 1.3 ELF3 ARID4B ZBTB40 ZNF335 ZNF766 ATF7 ZHX1 THAP11 SMAD5 SP5 ENSG00000261783 CTRB2 CHST6 RNU6-758P GC16M075409 ENSG00000252122 CFDP1 ENSG00000261717
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHST6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHST6 gene promoter:

Genomic Locations for CHST6 Gene

Genomic Locations for CHST6 Gene
chr16:75,472,052-75,495,434
(GRCh38/hg38)
Size:
23,383 bases
Orientation:
Minus strand
chr16:75,507,022-75,529,282
(GRCh37/hg19)

Genomic View for CHST6 Gene

Genes around CHST6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHST6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for CHST6 Gene

Q9GZX3:
  • RSGSSFVGQLF
  • QHPDVFYLMEPAWHVW
  • LVRDPRAV
  • LHMAVRDL
  • VVLKEVRF

Post-translational modifications for CHST6 Gene

  • Glycosylation at posLast=116116, posLast=229229, posLast=305305, and posLast=328328
  • Modification sites at PhosphoSitePlus

Other Protein References for CHST6 Gene

Domains & Families for CHST6 Gene

Gene Families for CHST6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

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

Phenotypes From GWAS Catalog 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 IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with CHST6: view
genes like me logo Genes that share phenotypes with CHST6: view

Human Phenotype Ontology for CHST6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHST6 Gene

MGI Knock Outs for CHST6:

miRNA for CHST6 Gene

miRTarBase miRNAs that target CHST6

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHST6 gene
Compartment Confidence
golgi apparatus 5
extracellular 3
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with CHST6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHST6 Gene

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 IEA --
GO:0006044 N-acetylglucosamine metabolic process IDA 11352640
GO:0006790 sulfur compound metabolic process IDA 11352640
GO:0018146 keratan sulfate biosynthetic process IDA,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

(2) Drugs for CHST6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for CHST6 Gene - From: Novoseek and HMDB

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
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CHST6 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHST6 Gene:

CHST6

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.

Evidence on tissue expression from TISSUES for CHST6 Gene

  • Lung(4.1)
  • Eye(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHST6 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • eye
  • head
genes like me logo Genes that share expression patterns with CHST6: view

Orthologs for CHST6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHST6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHST6 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia CHST6 33
  • 88.21 (n)
-- 34
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 88 (a)
OneToMany
CHST6 33
  • 86.6 (n)
mouse
(Mus musculus)
Mammalia Chst5 33 16 34
  • 81.43 (n)
rat
(Rattus norvegicus)
Mammalia Chst5 33
  • 80.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 77 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 64 (a)
ManyToMany
CHST6 33
  • 61.76 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia chst6 33
  • 59.21 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:194879 33
  • 57.6 (n)
CHST5 34
  • 54 (a)
OneToMany
zgc64166 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7498 33
fruit fly
(Drosophila melanogaster)
Insecta CG31637 33 34
  • 48.23 (n)
CG9550 34
  • 20 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009809 33
  • 45.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
-- 34
  • 27 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
-- 34
  • 21 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
CSA.5535 34
  • 20 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
Species where no ortholog for CHST6 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1012972618 uncertain-significance, Macular corneal dystrophy Type I 75,473,458(-) C/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1033536167 uncertain-significance, Macular corneal dystrophy Type I 75,473,189(-) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1049885647 uncertain-significance, Macular corneal dystrophy Type I 75,481,821(-) G/T 5_prime_UTR_variant
rs10871313 benign, Macular corneal dystrophy Type I 75,473,196(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs111307793 uncertain-significance, Macular corneal dystrophy Type I 75,476,831(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv1007873 CNV gain 20482838
esv2672875 CNV deletion 23128226
esv2714710 CNV deletion 23290073
esv2758657 CNV gain 17122850
esv3571642 CNV gain 25503493
esv3639093 CNV loss 21293372
esv3639094 CNV loss 21293372
nsv1059777 CNV loss 25217958
nsv1063718 CNV gain 25217958
nsv1065995 CNV loss 25217958
nsv1134565 CNV deletion 24896259
nsv457521 CNV gain 19166990
nsv516675 CNV gain+loss 19592680
nsv525955 CNV loss 19592680
nsv572979 CNV gain 21841781
nsv572980 CNV loss 21841781
nsv572981 CNV gain 21841781

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)

Additional Variant Information for CHST6 Gene

Human Gene Mutation Database (HGMD)
CHST6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHST6

SNP Genotyping and Copy Number Assay Products

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

Disorders for CHST6 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CHST6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CHST6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHST6_HUMAN
  • Macular dystrophy, corneal (MCD) [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, ECO:0000269 PubMed:19365571, ECO:0000269 PubMed:21242781, ECO:0000269 PubMed:24311932, ECO:0000269 PubMed:26604660}. 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.

Additional Disease Information for CHST6

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

No data available for Genatlas for CHST6 Gene

Publications for CHST6 Gene

  1. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. (PMID: 15013869) Aldave AJ … Small K (American journal of ophthalmology 2004) 3 4 22 44 58
  2. Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. (PMID: 14609920) Warren JF … Margolis TP (Archives of ophthalmology (Chicago, Ill. : 1960) 2003) 3 4 22 44 58
  3. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. (PMID: 11017086) Akama TO … Fukuda MN (Nature genetics 2000) 2 3 4 22 58
  4. Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. (PMID: 19365571) Dang X … Qi Y (Molecular vision 2009) 3 4 22 58
  5. Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. (PMID: 15652851) El-Ashry MF … Ebenezer ND (American journal of ophthalmology 2005) 3 4 22 58

Products for CHST6 Gene

Sources for CHST6 Gene

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