ENSG00000183196


Homo sapiens

Features
Gene ID: ENSG00000183196
  
Biological name :CHST6
  
Synonyms : carbohydrate sulfotransferase 6 / CHST6 / Q9GZX3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: q23.1
Gene start: 75472052
Gene end: 75495384
  
Corresponding Affymetrix probe sets: 223786_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000328983
Ensembl peptide - ENSP00000375079
NCBI entrez gene - 4166     See in Manteia.
OMIM - 605294
RefSeq - XM_011523085
RefSeq - NM_021615
RefSeq - XM_005255955
RefSeq Peptide - NP_067628
swissprot - Q9GZX3
Ensembl - ENSG00000183196
  
Related genetic diseases (OMIM): 217800 - Macular corneal dystrophy, 217800
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CHST6ENSDARG00000061357Danio rerio
 CHST6ENSGALG00000000913Gallus gallus
 Chst5ENSMUSG00000031952Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHST5 / Q9GZS9 / carbohydrate sulfotransferase 5ENSG0000013570284
CHST4 / Q8NCG5 / carbohydrate sulfotransferase 4ENSG0000014083554
CHST7 / Q9NS84 / carbohydrate sulfotransferase 7ENSG0000014711936
CHST2 / Q9Y4C5 / carbohydrate sulfotransferase 2ENSG0000017504036
CHST3 / Q7LGC8 / carbohydrate sulfotransferase 3ENSG0000012286332
CHST1 / O43916 / carbohydrate sulfotransferase 1ENSG0000017526432


Protein motifs (from Interpro)
Interpro ID Name
 IPR000863  Sulfotransferase domain
 IPR016469  Carbohydrate sulfotransferase
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006044 N-acetylglucosamine metabolic process IDA
 biological_processGO:0006790 sulfur compound metabolic process IDA
 biological_processGO:0018146 keratan sulfate biosynthetic process IDA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005794 Golgi apparatus TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IBA
 molecular_functionGO:0001517 N-acetylglucosamine 6-O-sulfotransferase activity TAS
 molecular_functionGO:0008146 sulfotransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
Keratan sulfate biosynthesis
Defective CHST6 causes MCDC1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000495 Recurrent corneal erosions "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators]
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0001131 Corneal dystrophy 
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 HP:0001939 Metabolism abnormality 
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 HP:0003621 Juvenile onset 
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 HP:0007754 Macular dystrophy 
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 HP:0007856 Fine punctate corneal opacities 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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