CHST6
entrez
4166
canonical
uniprot
Q9GZX3
canonical
ensembl
ENSG00000183196
resolver
ensp
ENSP00000328983
resolver
ensp
ENSP00000375079
resolver
ensp
ENSP00000496806
resolver
ensp
ENSP00000497635
resolver
ensp
ENSP00000640698
resolver
enst
ENST00000332272
resolver
enst
ENST00000390664
resolver
enst
ENST00000649341
resolver
enst
ENST00000649824
resolver
enst
ENST00000970639
resolver
genesymbol
CHST6
resolver
hgnc
HGNC:6938
resolver
uniprot
D3DUK3
resolver
uniprot_entry
CHST6_HUMAN
resolver
uniprot_sec
D3DUK3
resolver
amino_acid_sequence
MWLPRVSSTAVTALLLAQTFLLLFLVSRPGPSSPAGGEARVHVLVLSSWRSGSSFVGQLFNQHPDVFYLMEPAWHVWTTLSQGSAATLHMAVRDLVRSVFLCDMDVFDAYLPWRRNLSDLFQWAVSRALCSPPACSAFPRGAISSEAVCKPLCARQSFTLAREACRSYSHVVLKEVRFFNLQVLYPLLSDPALNLRIVHLVRDPRAVLRSREQTAKALARDNGIVLGTNGTWVEADPGLRVVREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREPLAEIRALYAFTGLSLTPQLEAWIHNITHGSGPGARREAFKTSSRNALNVSQAWRHALPFAKIRRVQELCAGALQLLGYRPVYSEDEQRNLALDLVLPRGLNGFTWASSTASHPRN
uniprot
proteins
disease_involvement
DISEASE: 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:11278593, 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 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.
uniprot
proteins
ec_number
2.8.2.21
uniprot
proteins
function
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). {ECO:0000269|PubMed:11278593, ECO:0000269|PubMed:11352640, ECO:0000269|PubMed:12218059, ECO:0000269|PubMed:17690104}.
uniprot
proteins
mass_dalton
44099
uniprot
proteins
protein_family
Gal/GlcNAc/GalNAc subfamily
uniprot
proteins
protein_family
Sulfotransferase 1 family
uniprot
proteins
pubmed
11017086
uniprot
proteins
pubmed
11139648
uniprot
proteins
pubmed
11181564
uniprot
proteins
pubmed
11278593
uniprot
proteins
pubmed
11352640
uniprot
proteins
pubmed
11818380
uniprot
proteins
pubmed
12218059
uniprot
proteins
pubmed
12824236
uniprot
proteins
pubmed
12882769
uniprot
proteins
pubmed
12882775
uniprot
proteins
pubmed
12883341
uniprot
proteins
pubmed
14609920
uniprot
proteins
pubmed
14735064
uniprot
proteins
pubmed
14984470
uniprot
proteins
pubmed
15013869
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15652851
uniprot
proteins
pubmed
17690104
uniprot
proteins
pubmed
19365571
uniprot
proteins
pubmed
21242781
uniprot
proteins
pubmed
24311932
uniprot
proteins
pubmed
26604660
uniprot
proteins
sequence_length
395
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 6..26; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins