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Details on Person UniProt:Q9GZX3 CHST6
| Class:Id | ReferenceGeneProduct:223491 |
|---|---|
| _chainChangeLog | chain:1-395 added on Sat February 7 2015 |
| _displayName | UniProt:Q9GZX3 CHST6 |
| _timestamp | 2024-11-03 19:35:40 |
| chain | chain:1-395 |
| checksum | 433CA60248A48F67 |
| comment | 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 (PubMed:11278593, PubMed:11352640, PubMed:12218059, PubMed:17690104). Cooperates with B4GALT4 galactosyltransferase and B3GNT7 N-acetylglucosaminyltransferase to construct and elongate the sulfated disaccharide unit [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved in biosynthesis of keratan sulfate in cornea, with an impact on proteoglycan fibril organization and corneal transparency (PubMed:11278593, PubMed:12218059, PubMed:17690104). Involved in sulfation of endothelial mucins such as GLYCAM1 (PubMed:11352640).CATALYTIC ACTIVITY 3'-phosphoadenylyl sulfate + keratan = adenosine 3',5'-bisphosphate + keratan 6'-sulfate.SUBCELLULAR LOCATION Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea.DISEASE The disease is caused by variants 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.SIMILARITY Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Carbohydrate sulfotransferase 6 alternativeName: Corneal N-acetylglucosamine-6-O-sulfotransferase shortName: C-GlcNAc6ST shortName: hCGn6ST ecNumber evidence="6 19"2.8.2.21 alternativeName: Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta shortName evidence="24"GST4-beta alternativeName: N-acetylglucosamine 6-O-sulfotransferase 5 shortName: GlcNAc6ST-5 shortName: Gn6st-5 |
| geneName | CHST6 |
| identifier | Q9GZX3 |
| isSequenceChanged | FALSE |
| keyword | Carbohydrate metabolism Corneal dystrophy Disease variant Glycoprotein Golgi apparatus Membrane Proteomics identification Reference proteome Signal-anchor Transferase Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | CHST6 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8991771] ENSEMBL:ENSG00000183196 CHST6 [Homo sapiens] |
| secondaryIdentifier | CHST6_HUMAN D3DUK3 |
| sequenceLength | 395 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:1971537] CHST6 [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:3656419] CHST6 Y110C [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:3656420] CHST6 E274K [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:3656437] CHST6 D203E [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:3656454] CHST6 L200R [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:3656457] CHST6 R211W [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:3656470] CHST6 C102G [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:3656477] CHST6 L276P [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:3656480] CHST6 K174R [Golgi membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:3656423] L-cysteine 102 replaced with glycine [ReplacedResidue:3656440] L-leucine 276 replaced with L-proline [ReplacedResidue:3656444] L-tyrosine 110 replaced with L-cysteine [ReplacedResidue:3656445] L-aspartic acid 203 replaced with L-glutamic acid [ReplacedResidue:3656446] L-arginine 211 replaced with L-tryptophan [ReplacedResidue:3656447] L-glutamic acid 274 replaced with L-lysine [ReplacedResidue:3656453] L-lysine 174 replaced with L-arginine [ReplacedResidue:3656481] L-leucine 200 replaced with L-arginine |
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No pathways have been reviewed or authored by UniProt:Q9GZX3 CHST6 (223491)
