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Q9GZX3

- CHST6_HUMAN

UniProt

Q9GZX3 - CHST6_HUMAN

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Protein
Carbohydrate sulfotransferase 6
Gene
CHST6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi49 – 557PAPS By similarity
Nucleotide bindingi202 – 2109PAPS By similarity

GO - Molecular functioni

  1. N-acetylglucosamine 6-O-sulfotransferase activity Source: UniProtKB

GO - Biological processi

  1. N-acetylglucosamine metabolic process Source: UniProtKB
  2. carbohydrate metabolic process Source: Reactome
  3. glycosaminoglycan metabolic process Source: Reactome
  4. keratan sulfate biosynthetic process Source: UniProtKB
  5. keratan sulfate metabolic process Source: Reactome
  6. small molecule metabolic process Source: Reactome
  7. sulfur compound metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Carbohydrate metabolism

Enzyme and pathway databases

ReactomeiREACT_121120. Keratan sulfate biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Carbohydrate sulfotransferase 6 (EC:2.8.2.-)
Alternative name(s):
Corneal N-acetylglucosamine-6-O-sulfotransferase
Short name:
C-GlcNAc6ST
Short name:
hCGn6ST
Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta
Short name:
GST4-beta
N-acetylglucosamine 6-O-sulfotransferase 5
Short name:
GlcNAc6ST-5
Short name:
Gn6st-5
Gene namesi
Name:CHST6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:6938. CHST6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 55Cytoplasmic Reviewed prediction
Transmembranei6 – 2621Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini27 – 395369Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB
  2. Golgi membrane Source: Reactome
  3. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

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.
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 CHST6.13 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → P in MCDC1. 1 Publication
VAR_021417
Natural varianti22 – 221L → R in MCDC1. 1 Publication
VAR_021418
Natural varianti31 – 311P → S in MCDC1. 1 Publication
VAR_021419
Natural varianti42 – 421H → Y in MCDC1. 1 Publication
VAR_021420
Natural varianti50 – 501R → C in MCDC1; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs28937877 [ dbSNP | Ensembl ].
VAR_021421
Natural varianti51 – 511S → L in MCDC1. 2 Publications
VAR_021422
Natural varianti52 – 521G → D in MCDC1. 1 Publication
VAR_021423
Natural varianti53 – 531S → L in MCDC1. 2 Publications
VAR_021424
Natural varianti59 – 591L → P in MCDC1. 1 Publication
VAR_021425
Natural varianti61 – 611N → T in MCDC1. 1 Publication
VAR_021426
Natural varianti66 – 661V → L in MCDC1. 1 Publication
VAR_021427
Natural varianti68 – 681Y → H in MCDC1. 1 Publication
VAR_021428
Natural varianti70 – 701M → L in MCDC1. 1 Publication
VAR_021429
Natural varianti72 – 721P → S in MCDC1. 2 Publications
VAR_021430
Natural varianti76 – 761V → M in MCDC1. 1 Publication
VAR_021431
Natural varianti93 – 931R → H in MCDC1. 1 Publication
VAR_021432
Natural varianti97 – 971R → P in MCDC1. 1 Publication
VAR_021433
Natural varianti98 – 981S → W in MCDC1. 1 Publication
VAR_021434
Natural varianti102 – 1021C → G in MCDC1. 3 Publications
VAR_021435
Natural varianti102 – 1021C → Y in MCDC1. 1 Publication
VAR_021436
Natural varianti104 – 1041M → V in MCDC1. 1 Publication
VAR_021437
Natural varianti107 – 1071F → S in MCDC1. 2 Publications
VAR_021438
Natural varianti110 – 1101Y → C in MCDC1. 1 Publication
VAR_021439
Natural varianti121 – 1211F → L in MCDC1. 1 Publication
VAR_021440
Natural varianti122 – 1221Q → P in MCDC1. 1 Publication
VAR_021441
Natural varianti127 – 1271R → C in MCDC1. 1 Publication
VAR_021442
Natural varianti128 – 1281A → V in MCDC1. 1 Publication
VAR_021443
Natural varianti131 – 1311S → P in MCDC1. 1 Publication
VAR_021444
Natural varianti152 – 1521L → P in MCDC1. 1 Publication
VAR_021445
Natural varianti162 – 1621R → G in MCDC1. 1 Publication
Corresponds to variant rs117435647 [ dbSNP | Ensembl ].
VAR_021446
Natural varianti166 – 1661R → P in MCDC1. 2 Publications
VAR_021447
Natural varianti174 – 1741K → R in MCDC1; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs28937878 [ dbSNP | Ensembl ].
VAR_021448
Natural varianti177 – 1771R → H in MCDC1. 1 Publication
VAR_021449
Natural varianti198 – 1981V → E in MCDC1. 1 Publication
VAR_021450
Natural varianti200 – 2001L → R in MCDC1. 5 Publications
Corresponds to variant rs28937879 [ dbSNP | Ensembl ].
VAR_021451
Natural varianti202 – 2021R → S in MCDC1. 1 Publication
VAR_021452
Natural varianti203 – 2031D → E in MCDC1; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs28937878 [ dbSNP | Ensembl ].
VAR_021453
Natural varianti204 – 2041P → Q in MCDC1. 3 Publications
VAR_021454
Natural varianti205 – 2051R → L in MCDC1. 1 Publication
VAR_021455
Natural varianti205 – 2051R → Q in MCDC1. 1 Publication
VAR_021456
Natural varianti206 – 2061A → T in MCDC1. 1 Publication
VAR_021457
Natural varianti206 – 2061A → V in MCDC1. 1 Publication
VAR_021458
Natural varianti210 – 2101S → F in MCDC1. 1 Publication
VAR_021459
Natural varianti211 – 2111R → Q in MCDC1. 2 Publications
VAR_021460
Natural varianti211 – 2111R → W in MCDC1; abolishes ability to sulfate keratan. 3 Publications
Corresponds to variant rs202175444 [ dbSNP | Ensembl ].
VAR_021461
Natural varianti217 – 2171A → T in MCDC1; abolishes ability to sulfate keratan. 2 Publications
VAR_021462
Natural varianti221 – 2211D → E in MCDC1. 1 Publication
VAR_021463
Natural varianti221 – 2211D → Y in MCDC1. 1 Publication
VAR_021464
Natural varianti249 – 2491H → P in MCDC1. 1 Publication
VAR_021465
Natural varianti268 – 2681Y → C in MCDC1. 1 Publication
VAR_021466
Natural varianti274 – 2741E → K in MCDC1; abolishes ability to sulfate keratan. 3 Publications
VAR_021467
Natural varianti276 – 2761L → P in MCDC1. 2 Publications
VAR_021468
Natural varianti358 – 3581Y → D in MCDC1. 1 Publication
VAR_021469

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

MIMi217800. phenotype.
Orphaneti98969. Macular corneal dystrophy.
PharmGKBiPA26506.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 395395Carbohydrate sulfotransferase 6
PRO_0000085197Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi116 – 1161N-linked (GlcNAc...) Reviewed prediction
Glycosylationi229 – 2291N-linked (GlcNAc...) Reviewed prediction
Glycosylationi305 – 3051N-linked (GlcNAc...) Reviewed prediction
Glycosylationi328 – 3281N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9GZX3.
PRIDEiQ9GZX3.

PTM databases

PhosphoSiteiQ9GZX3.

Expressioni

Tissue specificityi

Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea.3 Publications

Gene expression databases

BgeeiQ9GZX3.
CleanExiHS_CHST6.
GenevestigatoriQ9GZX3.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000328983.

Structurei

3D structure databases

ProteinModelPortaliQ9GZX3.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG300333.
HOGENOMiHOG000261614.
HOVERGENiHBG050949.
InParanoidiQ9GZX3.
KOiK09671.
OMAiFPRGAIS.
OrthoDBiEOG7RZ5S0.
PhylomeDBiQ9GZX3.
TreeFamiTF342871.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR016469. Carbohydrate_sulfotransferase.
IPR027417. P-loop_NTPase.
IPR000863. Sulfotransferase_dom.
[Graphical view]
PfamiPF00685. Sulfotransfer_1. 1 hit.
[Graphical view]
PIRSFiPIRSF005883. Carbohydrate_sulfotransferase. 1 hit.
SUPFAMiSSF52540. SSF52540. 2 hits.

Sequencei

Sequence statusi: Complete.

Q9GZX3-1 [UniParc]FASTAAdd to Basket

« Hide

MWLPRVSSTA VTALLLAQTF LLLFLVSRPG PSSPAGGEAR VHVLVLSSWR    50
SGSSFVGQLF NQHPDVFYLM EPAWHVWTTL SQGSAATLHM AVRDLVRSVF 100
LCDMDVFDAY LPWRRNLSDL FQWAVSRALC SPPACSAFPR GAISSEAVCK 150
PLCARQSFTL AREACRSYSH VVLKEVRFFN LQVLYPLLSD PALNLRIVHL 200
VRDPRAVLRS REQTAKALAR DNGIVLGTNG TWVEADPGLR VVREVCRSHV 250
RIAEAATLKP PPFLRGRYRL VRFEDLAREP LAEIRALYAF TGLSLTPQLE 300
AWIHNITHGS GPGARREAFK TSSRNALNVS QAWRHALPFA KIRRVQELCA 350
GALQLLGYRP VYSEDEQRNL ALDLVLPRGL NGFTWASSTA SHPRN 395
Length:395
Mass (Da):44,099
Last modified:March 1, 2001 - v1
Checksum:i433CA60248A48F67
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → P in MCDC1. 1 Publication
VAR_021417
Natural varianti22 – 221L → R in MCDC1. 1 Publication
VAR_021418
Natural varianti31 – 311P → S in MCDC1. 1 Publication
VAR_021419
Natural varianti42 – 421H → Y in MCDC1. 1 Publication
VAR_021420
Natural varianti50 – 501R → C in MCDC1; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs28937877 [ dbSNP | Ensembl ].
VAR_021421
Natural varianti51 – 511S → L in MCDC1. 2 Publications
VAR_021422
Natural varianti52 – 521G → D in MCDC1. 1 Publication
VAR_021423
Natural varianti53 – 531S → L in MCDC1. 2 Publications
VAR_021424
Natural varianti59 – 591L → P in MCDC1. 1 Publication
VAR_021425
Natural varianti61 – 611N → T in MCDC1. 1 Publication
VAR_021426
Natural varianti66 – 661V → L in MCDC1. 1 Publication
VAR_021427
Natural varianti68 – 681Y → H in MCDC1. 1 Publication
VAR_021428
Natural varianti70 – 701M → L in MCDC1. 1 Publication
VAR_021429
Natural varianti72 – 721P → S in MCDC1. 2 Publications
VAR_021430
Natural varianti76 – 761V → M in MCDC1. 1 Publication
VAR_021431
Natural varianti93 – 931R → H in MCDC1. 1 Publication
VAR_021432
Natural varianti97 – 971R → P in MCDC1. 1 Publication
VAR_021433
Natural varianti98 – 981S → W in MCDC1. 1 Publication
VAR_021434
Natural varianti102 – 1021C → G in MCDC1. 3 Publications
VAR_021435
Natural varianti102 – 1021C → Y in MCDC1. 1 Publication
VAR_021436
Natural varianti104 – 1041M → V in MCDC1. 1 Publication
VAR_021437
Natural varianti107 – 1071F → S in MCDC1. 2 Publications
VAR_021438
Natural varianti110 – 1101Y → C in MCDC1. 1 Publication
VAR_021439
Natural varianti121 – 1211F → L in MCDC1. 1 Publication
VAR_021440
Natural varianti122 – 1221Q → P in MCDC1. 1 Publication
VAR_021441
Natural varianti127 – 1271R → C in MCDC1. 1 Publication
VAR_021442
Natural varianti128 – 1281A → V in MCDC1. 1 Publication
VAR_021443
Natural varianti131 – 1311S → P in MCDC1. 1 Publication
VAR_021444
Natural varianti152 – 1521L → P in MCDC1. 1 Publication
VAR_021445
Natural varianti162 – 1621R → G in MCDC1. 1 Publication
Corresponds to variant rs117435647 [ dbSNP | Ensembl ].
VAR_021446
Natural varianti166 – 1661R → P in MCDC1. 2 Publications
VAR_021447
Natural varianti174 – 1741K → R in MCDC1; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs28937878 [ dbSNP | Ensembl ].
VAR_021448
Natural varianti177 – 1771R → H in MCDC1. 1 Publication
VAR_021449
Natural varianti198 – 1981V → E in MCDC1. 1 Publication
VAR_021450
Natural varianti200 – 2001L → R in MCDC1. 5 Publications
Corresponds to variant rs28937879 [ dbSNP | Ensembl ].
VAR_021451
Natural varianti202 – 2021R → S in MCDC1. 1 Publication
VAR_021452
Natural varianti203 – 2031D → E in MCDC1; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs28937878 [ dbSNP | Ensembl ].
VAR_021453
Natural varianti204 – 2041P → Q in MCDC1. 3 Publications
VAR_021454
Natural varianti205 – 2051R → L in MCDC1. 1 Publication
VAR_021455
Natural varianti205 – 2051R → Q in MCDC1. 1 Publication
VAR_021456
Natural varianti206 – 2061A → T in MCDC1. 1 Publication
VAR_021457
Natural varianti206 – 2061A → V in MCDC1. 1 Publication
VAR_021458
Natural varianti210 – 2101S → F in MCDC1. 1 Publication
VAR_021459
Natural varianti211 – 2111R → Q in MCDC1. 2 Publications
VAR_021460
Natural varianti211 – 2111R → W in MCDC1; abolishes ability to sulfate keratan. 3 Publications
Corresponds to variant rs202175444 [ dbSNP | Ensembl ].
VAR_021461
Natural varianti217 – 2171A → T in MCDC1; abolishes ability to sulfate keratan. 2 Publications
VAR_021462
Natural varianti221 – 2211D → E in MCDC1. 1 Publication
VAR_021463
Natural varianti221 – 2211D → Y in MCDC1. 1 Publication
VAR_021464
Natural varianti249 – 2491H → P in MCDC1. 1 Publication
VAR_021465
Natural varianti268 – 2681Y → C in MCDC1. 1 Publication
VAR_021466
Natural varianti274 – 2741E → K in MCDC1; abolishes ability to sulfate keratan. 3 Publications
VAR_021467
Natural varianti276 – 2761L → P in MCDC1. 2 Publications
VAR_021468
Natural varianti358 – 3581Y → D in MCDC1. 1 Publication
VAR_021469
Natural varianti369 – 3691N → D.
Corresponds to variant rs35036798 [ dbSNP | Ensembl ].
VAR_033735

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF219990 mRNA. Translation: AAG26325.1.
AF219991 Genomic DNA. Translation: AAG26327.1.
AF280086 mRNA. Translation: AAG48244.1.
CH471114 Genomic DNA. Translation: EAW95640.1.
CH471114 Genomic DNA. Translation: EAW95641.1.
BC074883 mRNA. Translation: AAH74883.1.
BC074834 mRNA. Translation: AAH74834.1.
CCDSiCCDS10918.1.
RefSeqiNP_067628.1. NM_021615.4.
XP_005256012.1. XM_005255955.2.
UniGeneiHs.655622.

Genome annotation databases

EnsembliENST00000332272; ENSP00000328983; ENSG00000183196.
ENST00000390664; ENSP00000375079; ENSG00000183196.
GeneIDi4166.
KEGGihsa:4166.
UCSCiuc002fef.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF219990 mRNA. Translation: AAG26325.1 .
AF219991 Genomic DNA. Translation: AAG26327.1 .
AF280086 mRNA. Translation: AAG48244.1 .
CH471114 Genomic DNA. Translation: EAW95640.1 .
CH471114 Genomic DNA. Translation: EAW95641.1 .
BC074883 mRNA. Translation: AAH74883.1 .
BC074834 mRNA. Translation: AAH74834.1 .
CCDSi CCDS10918.1.
RefSeqi NP_067628.1. NM_021615.4.
XP_005256012.1. XM_005255955.2.
UniGenei Hs.655622.

3D structure databases

ProteinModelPortali Q9GZX3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000328983.

PTM databases

PhosphoSitei Q9GZX3.

Proteomic databases

PaxDbi Q9GZX3.
PRIDEi Q9GZX3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000332272 ; ENSP00000328983 ; ENSG00000183196 .
ENST00000390664 ; ENSP00000375079 ; ENSG00000183196 .
GeneIDi 4166.
KEGGi hsa:4166.
UCSCi uc002fef.3. human.

Organism-specific databases

CTDi 4166.
GeneCardsi GC16M075508.
HGNCi HGNC:6938. CHST6.
MIMi 217800. phenotype.
605294. gene.
neXtProti NX_Q9GZX3.
Orphaneti 98969. Macular corneal dystrophy.
PharmGKBi PA26506.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG300333.
HOGENOMi HOG000261614.
HOVERGENi HBG050949.
InParanoidi Q9GZX3.
KOi K09671.
OMAi FPRGAIS.
OrthoDBi EOG7RZ5S0.
PhylomeDBi Q9GZX3.
TreeFami TF342871.

Enzyme and pathway databases

Reactomei REACT_121120. Keratan sulfate biosynthesis.

Miscellaneous databases

ChiTaRSi CHST6. human.
GeneWikii CHST6.
GenomeRNAii 4166.
NextBioi 16408.
PROi Q9GZX3.
SOURCEi Search...

Gene expression databases

Bgeei Q9GZX3.
CleanExi HS_CHST6.
Genevestigatori Q9GZX3.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR016469. Carbohydrate_sulfotransferase.
IPR027417. P-loop_NTPase.
IPR000863. Sulfotransferase_dom.
[Graphical view ]
Pfami PF00685. Sulfotransfer_1. 1 hit.
[Graphical view ]
PIRSFi PIRSF005883. Carbohydrate_sulfotransferase. 1 hit.
SUPFAMi SSF52540. SSF52540. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY, VARIANTS MCDC1 CYS-50; ARG-174; GLU-203; TRP-211 AND LYS-274.
  2. "Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family."
    Hemmerich S., Lee J.K., Bhakta S., Bistrup A., Ruddle N.R., Rosen S.D.
    Glycobiology 11:75-87(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  5. "Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta)."
    Bartes A., Bhakta S., Hemmerich S.
    Biochem. Biophys. Res. Commun. 282:928-933(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY.
  6. "Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate."
    Akama T.O., Misra A.K., Hindsgaul O., Fukuda M.N.
    J. Biol. Chem. 277:42505-42513(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBSTRATE SPECIFICITY, VARIANTS MCDC1 CYS-50; ARG-174; GLU-203; TRP-211; THR-217 AND LYS-274.
  7. "Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland."
    Liu N.-P., Dew-Knight S., Rayner M., Jonasson F., Akama T.O., Fukuda M.N., Bao W., Gilbert J.R., Vance J.M., Klintworth G.K.
    Mol. Vis. 6:261-264(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCDC1 VAL-128 AND PRO-166.
  8. "Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy."
    El-Ashry M.F., El-Aziz M.M., Wilkins S., Cheetham M.E., Wilkie S.E., Hardcastle A.J., Halford S., Bayoumi A.Y., Ficker L.A., Tuft S., Bhattacharya S.S., Ebenezer N.D.
    Invest. Ophthalmol. Vis. Sci. 43:377-382(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCDC1 SER-31; SER-72; SER-107; ARG-200 AND VAL-206.
  9. "Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy."
    Niel F., Ellies P., Dighiero P., Soria J., Sabbagh C., San C., Renard G., Delpech M., Valleix S.
    Invest. Ophthalmol. Vis. Sci. 44:2949-2953(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCDC1 PRO-15; THR-61; HIS-68; LEU-70; GLY-102; PRO-131; PRO-152; PRO-166; ARG-200 AND GLN-204.
  10. "Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity."
    Iida-Hasegawa N., Furuhata A., Hayatsu H., Murakami A., Fujiki K., Nakayasu K., Kanai A.
    Invest. Ophthalmol. Vis. Sci. 44:3272-3277(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCDC1 HIS-177; GLN-204; LEU-205; TRP-211 AND THR-217.
  11. "Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations."
    Ha N.T., Chau H.M., Cung le X., Thanh T.K., Fujiki K., Murakami A., Hiratsuka Y., Hasegawa N., Kanai A.
    Cornea 22:508-511(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCDC1 GLN-211.
  12. "Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy."
    Ha N.T., Chau H.M., Cung le X., Thanh T.K., Fujiki K., Murakami A., Hiratsuka Y., Kanai A.
    Invest. Ophthalmol. Vis. Sci. 44:3310-3316(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCDC1 LEU-51; PRO-59; LEU-66; MET-76; GLN-211; GLN-211; CYS-268 AND CYS-268.
  13. "Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India."
    Warren J.F., Aldave A.J., Srinivasan M., Thonar E.J., Kumar A.B., Cevallos V., Whitcher J.P., Margolis T.P.
    Arch. Ophthalmol. 121:1608-1612(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCDC1 ARG-22; TYR-42; LEU-53; HIS-93; PRO-97; TYR-102; CYS-127; GLN-205; THR-206; PRO-249 AND LYS-274.
  14. "Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India."
    Sultana A., Sridhar M.S., Jagannathan A., Balasubramanian D., Kannabiran C., Klintworth G.K.
    Mol. Vis. 9:730-734(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCDC1 ASP-52; LEU-53; TRP-98; SER-107; LEU-121; SER-202; GLN-204; PHE-210; GLU-221 AND TYR-221.
  15. "Novel mutations in the CHST6 gene causing macular corneal dystrophy."
    Abbruzzese C., Kuhn U., Molina F., Rama P., De Luca M.
    Clin. Genet. 65:120-125(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCDC1 GLY-102; GLY-162; GLU-198 AND ARG-200.
  16. "Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy."
    Aldave A.J., Yellore V.S., Thonar E.J., Udar N., Warren J.F., Yoon M.K., Cohen E.J., Rapuano C.J., Laibson P.R., Margolis T.P., Small K.
    Am. J. Ophthalmol. 137:465-473(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCDC1 LEU-51; SER-72; GLY-102; VAL-104; CYS-110; PRO-122; ARG-200 AND PRO-276.
  17. Cited for: VARIANTS MCDC1 ARG-200; PRO-276 AND ASP-358.

Entry informationi

Entry nameiCHST6_HUMAN
AccessioniPrimary (citable) accession number: Q9GZX3
Secondary accession number(s): D3DUK3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: March 1, 2001
Last modified: September 3, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

1 Publication reported a Gly-204 variant, however according to their results reported in figure 1, it is a Gln-204 variant.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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