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Protein

Carbohydrate sulfotransferase 6

Gene

CHST6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 – 557PAPSBy similarity
Nucleotide bindingi202 – 2109PAPSBy similarity

GO - Molecular functioni

  • N-acetylglucosamine 6-O-sulfotransferase activity Source: UniProtKB

GO - Biological processi

  • carbohydrate metabolic process Source: UniProtKB-KW
  • keratan sulfate biosynthetic process Source: UniProtKB
  • N-acetylglucosamine metabolic process Source: UniProtKB
  • sulfur compound metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Carbohydrate metabolism

Enzyme and pathway databases

ReactomeiR-HSA-2022854. Keratan sulfate biosynthesis.
R-HSA-3656225. Defective CHST6 causes MCDC1.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:6938. CHST6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 55CytoplasmicSequence analysis
Transmembranei6 – 2621Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini27 – 395369LumenalSequence analysisAdd
BLAST

GO - Cellular componenti

  • Golgi apparatus Source: UniProtKB
  • Golgi membrane Source: Reactome
  • integral component of membrane Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Macular dystrophy, corneal (MCD)17 Publications
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.
Disease descriptionAn 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.
See also OMIM:217800
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → P in MCD. 1 Publication
VAR_021417
Natural varianti22 – 221L → R in MCD. 1 Publication
VAR_021418
Natural varianti31 – 311P → S in MCD. 1 Publication
Corresponds to variant rs72547549 [ dbSNP | Ensembl ].
VAR_021419
Natural varianti42 – 421H → Y in MCD. 1 Publication
VAR_021420
Natural varianti50 – 501R → C in MCD; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs28937877 [ dbSNP | Ensembl ].
VAR_021421
Natural varianti51 – 511S → L in MCD. 2 Publications
VAR_021422
Natural varianti52 – 521G → D in MCD. 1 Publication
VAR_021423
Natural varianti53 – 531S → L in MCD. 2 Publications
VAR_021424
Natural varianti59 – 591L → P in MCD. 1 Publication
VAR_021425
Natural varianti61 – 611N → T in MCD. 1 Publication
VAR_021426
Natural varianti66 – 661V → L in MCD. 1 Publication
Corresponds to variant rs72547547 [ dbSNP | Ensembl ].
VAR_021427
Natural varianti68 – 681Y → H in MCD. 1 Publication
Corresponds to variant rs775742450 [ dbSNP | Ensembl ].
VAR_021428
Natural varianti70 – 701M → L in MCD. 1 Publication
VAR_021429
Natural varianti72 – 721P → S in MCD. 2 Publications
Corresponds to variant rs377617168 [ dbSNP | Ensembl ].
VAR_021430
Natural varianti76 – 761V → M in MCD. 1 Publication
VAR_021431
Natural varianti93 – 931R → H in MCD. 1 Publication
VAR_021432
Natural varianti97 – 971R → P in MCD. 1 Publication
VAR_021433
Natural varianti98 – 981S → W in MCD. 1 Publication
VAR_021434
Natural varianti102 – 1021C → G in MCD. 3 Publications
Corresponds to variant rs121917822 [ dbSNP | Ensembl ].
VAR_021435
Natural varianti102 – 1021C → Y in MCD. 1 Publication
VAR_021436
Natural varianti104 – 1041M → V in MCD. 1 Publication
VAR_021437
Natural varianti107 – 1071F → S in MCD. 2 Publications
Corresponds to variant rs72547545 [ dbSNP | Ensembl ].
VAR_021438
Natural varianti110 – 1101Y → C in MCD. 1 Publication
Corresponds to variant rs72547544 [ dbSNP | Ensembl ].
VAR_021439
Natural varianti118 – 1181S → F in MCD; unknown pathological significance. 1 Publication
VAR_075522
Natural varianti121 – 1211F → L in MCD. 1 Publication
VAR_021440
Natural varianti122 – 1221Q → P in MCD. 1 Publication
Corresponds to variant rs758105699 [ dbSNP | Ensembl ].
VAR_021441
Natural varianti127 – 1271R → C in MCD. 1 Publication
VAR_021442
Natural varianti128 – 1281A → V in MCD. 1 Publication
VAR_021443
Natural varianti131 – 1311S → P in MCD. 1 Publication
VAR_021444
Natural varianti152 – 1521L → P in MCD. 1 Publication
Corresponds to variant rs142954809 [ dbSNP | Ensembl ].
VAR_021445
Natural varianti162 – 1621R → G in MCD. 1 Publication
Corresponds to variant rs117435647 [ dbSNP | Ensembl ].
VAR_021446
Natural varianti166 – 1661R → P in MCD. 2 Publications
Corresponds to variant rs72547542 [ dbSNP | Ensembl ].
VAR_021447
Natural varianti174 – 1741K → R in MCD; abolishes ability to sulfate keratan. 3 Publications
Corresponds to variant rs28937878 [ dbSNP | Ensembl ].
VAR_021448
Natural varianti177 – 1771R → G in MCD; found in a compound heterozygote with Q-211. 1 Publication
VAR_075523
Natural varianti177 – 1771R → H in MCD. 1 Publication
VAR_021449
Natural varianti186 – 1861P → R in MCD. 2 Publications
Corresponds to variant rs376162109 [ dbSNP | Ensembl ].
VAR_075524
Natural varianti198 – 1981V → E in MCD. 1 Publication
VAR_021450
Natural varianti200 – 2001L → R in MCD. 5 Publications
Corresponds to variant rs28937879 [ dbSNP | Ensembl ].
VAR_021451
Natural varianti202 – 2021R → S in MCD. 1 Publication
VAR_021452
Natural varianti203 – 2031D → E in MCD; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs28937878 [ dbSNP | Ensembl ].
VAR_021453
Natural varianti204 – 2041P → Q in MCD. 3 Publications
Corresponds to variant rs759870075 [ dbSNP | Ensembl ].
VAR_021454
Natural varianti205 – 2051R → L in MCD. 1 Publication
VAR_021455
Natural varianti205 – 2051R → Q in MCD. 1 Publication
Corresponds to variant rs377706989 [ dbSNP | Ensembl ].
VAR_021456
Natural varianti205 – 2051R → W in MCD. 2 Publications
Corresponds to variant rs750219546 [ dbSNP | Ensembl ].
VAR_075525
Natural varianti206 – 2061A → T in MCD. 1 Publication
Corresponds to variant rs374493344 [ dbSNP | Ensembl ].
VAR_021457
Natural varianti206 – 2061A → V in MCD. 1 Publication
VAR_021458
Natural varianti210 – 2101S → F in MCD. 1 Publication
Corresponds to variant rs745571211 [ dbSNP | Ensembl ].
VAR_021459
Natural varianti211 – 2111R → Q in MCD; found in a compound heterozygote with G-177. 3 Publications
Corresponds to variant rs771397083 [ dbSNP | Ensembl ].
VAR_021460
Natural varianti211 – 2111R → W in MCD; abolishes ability to sulfate keratan. 3 Publications
Corresponds to variant rs202175444 [ dbSNP | Ensembl ].
VAR_021461
Natural varianti217 – 2171A → T in MCD; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs752785520 [ dbSNP | Ensembl ].
VAR_021462
Natural varianti221 – 2211D → E in MCD. 1 Publication
VAR_021463
Natural varianti221 – 2211D → Y in MCD. 1 Publication
VAR_021464
Natural varianti249 – 2491H → P in MCD. 1 Publication
VAR_021465
Natural varianti268 – 2681Y → C in MCD. 1 Publication
Corresponds to variant rs72547539 [ dbSNP | Ensembl ].
VAR_021466
Natural varianti274 – 2741E → K in MCD; abolishes ability to sulfate keratan. 4 Publications
Corresponds to variant rs72547538 [ dbSNP | Ensembl ].
VAR_021467
Natural varianti276 – 2761L → P in MCD. 2 Publications
Corresponds to variant rs121917824 [ dbSNP | Ensembl ].
VAR_021468
Natural varianti308 – 3081H → Y in MCD; unknown pathological significance. 1 Publication
VAR_075526
Natural varianti358 – 3581Y → D in MCD. 1 Publication
VAR_021469
Natural varianti358 – 3581Y → H in MCD; found in a compound heterozygote also carrying an early stop codon. 2 Publications
VAR_075527

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

MalaCardsiCHST6.
MIMi217800. phenotype.
Orphaneti98969. Macular corneal dystrophy.
PharmGKBiPA26506.

Polymorphism and mutation databases

BioMutaiCHST6.

PTM / Processingi

Molecule processing

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

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9GZX3.
PaxDbiQ9GZX3.
PeptideAtlasiQ9GZX3.
PRIDEiQ9GZX3.

PTM databases

iPTMnetiQ9GZX3.
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.
GenevisibleiQ9GZX3. HS.

Interactioni

Protein-protein interaction databases

BioGridi110334. 13 interactions.
STRINGi9606.ENSP00000328983.

Structurei

3D structure databases

ProteinModelPortaliQ9GZX3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJXD. Eukaryota.
ENOG4110V0B. LUCA.
GeneTreeiENSGT00530000062902.
HOGENOMiHOG000261614.
HOVERGENiHBG050949.
InParanoidiQ9GZX3.
KOiK09671.
OMAiNGFTWAS.
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

        10         20         30         40         50
MWLPRVSSTA VTALLLAQTF LLLFLVSRPG PSSPAGGEAR VHVLVLSSWR
60 70 80 90 100
SGSSFVGQLF NQHPDVFYLM EPAWHVWTTL SQGSAATLHM AVRDLVRSVF
110 120 130 140 150
LCDMDVFDAY LPWRRNLSDL FQWAVSRALC SPPACSAFPR GAISSEAVCK
160 170 180 190 200
PLCARQSFTL AREACRSYSH VVLKEVRFFN LQVLYPLLSD PALNLRIVHL
210 220 230 240 250
VRDPRAVLRS REQTAKALAR DNGIVLGTNG TWVEADPGLR VVREVCRSHV
260 270 280 290 300
RIAEAATLKP PPFLRGRYRL VRFEDLAREP LAEIRALYAF TGLSLTPQLE
310 320 330 340 350
AWIHNITHGS GPGARREAFK TSSRNALNVS QAWRHALPFA KIRRVQELCA
360 370 380 390
GALQLLGYRP VYSEDEQRNL ALDLVLPRGL NGFTWASSTA SHPRN
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 MCD. 1 Publication
VAR_021417
Natural varianti22 – 221L → R in MCD. 1 Publication
VAR_021418
Natural varianti31 – 311P → S in MCD. 1 Publication
Corresponds to variant rs72547549 [ dbSNP | Ensembl ].
VAR_021419
Natural varianti42 – 421H → Y in MCD. 1 Publication
VAR_021420
Natural varianti50 – 501R → C in MCD; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs28937877 [ dbSNP | Ensembl ].
VAR_021421
Natural varianti51 – 511S → L in MCD. 2 Publications
VAR_021422
Natural varianti52 – 521G → D in MCD. 1 Publication
VAR_021423
Natural varianti53 – 531S → L in MCD. 2 Publications
VAR_021424
Natural varianti59 – 591L → P in MCD. 1 Publication
VAR_021425
Natural varianti61 – 611N → T in MCD. 1 Publication
VAR_021426
Natural varianti66 – 661V → L in MCD. 1 Publication
Corresponds to variant rs72547547 [ dbSNP | Ensembl ].
VAR_021427
Natural varianti68 – 681Y → H in MCD. 1 Publication
Corresponds to variant rs775742450 [ dbSNP | Ensembl ].
VAR_021428
Natural varianti70 – 701M → L in MCD. 1 Publication
VAR_021429
Natural varianti72 – 721P → S in MCD. 2 Publications
Corresponds to variant rs377617168 [ dbSNP | Ensembl ].
VAR_021430
Natural varianti76 – 761V → M in MCD. 1 Publication
VAR_021431
Natural varianti93 – 931R → H in MCD. 1 Publication
VAR_021432
Natural varianti97 – 971R → P in MCD. 1 Publication
VAR_021433
Natural varianti98 – 981S → W in MCD. 1 Publication
VAR_021434
Natural varianti102 – 1021C → G in MCD. 3 Publications
Corresponds to variant rs121917822 [ dbSNP | Ensembl ].
VAR_021435
Natural varianti102 – 1021C → Y in MCD. 1 Publication
VAR_021436
Natural varianti104 – 1041M → V in MCD. 1 Publication
VAR_021437
Natural varianti107 – 1071F → S in MCD. 2 Publications
Corresponds to variant rs72547545 [ dbSNP | Ensembl ].
VAR_021438
Natural varianti110 – 1101Y → C in MCD. 1 Publication
Corresponds to variant rs72547544 [ dbSNP | Ensembl ].
VAR_021439
Natural varianti118 – 1181S → F in MCD; unknown pathological significance. 1 Publication
VAR_075522
Natural varianti121 – 1211F → L in MCD. 1 Publication
VAR_021440
Natural varianti122 – 1221Q → P in MCD. 1 Publication
Corresponds to variant rs758105699 [ dbSNP | Ensembl ].
VAR_021441
Natural varianti127 – 1271R → C in MCD. 1 Publication
VAR_021442
Natural varianti128 – 1281A → V in MCD. 1 Publication
VAR_021443
Natural varianti131 – 1311S → P in MCD. 1 Publication
VAR_021444
Natural varianti152 – 1521L → P in MCD. 1 Publication
Corresponds to variant rs142954809 [ dbSNP | Ensembl ].
VAR_021445
Natural varianti162 – 1621R → G in MCD. 1 Publication
Corresponds to variant rs117435647 [ dbSNP | Ensembl ].
VAR_021446
Natural varianti166 – 1661R → P in MCD. 2 Publications
Corresponds to variant rs72547542 [ dbSNP | Ensembl ].
VAR_021447
Natural varianti174 – 1741K → R in MCD; abolishes ability to sulfate keratan. 3 Publications
Corresponds to variant rs28937878 [ dbSNP | Ensembl ].
VAR_021448
Natural varianti177 – 1771R → G in MCD; found in a compound heterozygote with Q-211. 1 Publication
VAR_075523
Natural varianti177 – 1771R → H in MCD. 1 Publication
VAR_021449
Natural varianti186 – 1861P → R in MCD. 2 Publications
Corresponds to variant rs376162109 [ dbSNP | Ensembl ].
VAR_075524
Natural varianti198 – 1981V → E in MCD. 1 Publication
VAR_021450
Natural varianti200 – 2001L → R in MCD. 5 Publications
Corresponds to variant rs28937879 [ dbSNP | Ensembl ].
VAR_021451
Natural varianti202 – 2021R → S in MCD. 1 Publication
VAR_021452
Natural varianti203 – 2031D → E in MCD; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs28937878 [ dbSNP | Ensembl ].
VAR_021453
Natural varianti204 – 2041P → Q in MCD. 3 Publications
Corresponds to variant rs759870075 [ dbSNP | Ensembl ].
VAR_021454
Natural varianti205 – 2051R → L in MCD. 1 Publication
VAR_021455
Natural varianti205 – 2051R → Q in MCD. 1 Publication
Corresponds to variant rs377706989 [ dbSNP | Ensembl ].
VAR_021456
Natural varianti205 – 2051R → W in MCD. 2 Publications
Corresponds to variant rs750219546 [ dbSNP | Ensembl ].
VAR_075525
Natural varianti206 – 2061A → T in MCD. 1 Publication
Corresponds to variant rs374493344 [ dbSNP | Ensembl ].
VAR_021457
Natural varianti206 – 2061A → V in MCD. 1 Publication
VAR_021458
Natural varianti210 – 2101S → F in MCD. 1 Publication
Corresponds to variant rs745571211 [ dbSNP | Ensembl ].
VAR_021459
Natural varianti211 – 2111R → Q in MCD; found in a compound heterozygote with G-177. 3 Publications
Corresponds to variant rs771397083 [ dbSNP | Ensembl ].
VAR_021460
Natural varianti211 – 2111R → W in MCD; abolishes ability to sulfate keratan. 3 Publications
Corresponds to variant rs202175444 [ dbSNP | Ensembl ].
VAR_021461
Natural varianti217 – 2171A → T in MCD; abolishes ability to sulfate keratan. 2 Publications
Corresponds to variant rs752785520 [ dbSNP | Ensembl ].
VAR_021462
Natural varianti221 – 2211D → E in MCD. 1 Publication
VAR_021463
Natural varianti221 – 2211D → Y in MCD. 1 Publication
VAR_021464
Natural varianti249 – 2491H → P in MCD. 1 Publication
VAR_021465
Natural varianti268 – 2681Y → C in MCD. 1 Publication
Corresponds to variant rs72547539 [ dbSNP | Ensembl ].
VAR_021466
Natural varianti274 – 2741E → K in MCD; abolishes ability to sulfate keratan. 4 Publications
Corresponds to variant rs72547538 [ dbSNP | Ensembl ].
VAR_021467
Natural varianti276 – 2761L → P in MCD. 2 Publications
Corresponds to variant rs121917824 [ dbSNP | Ensembl ].
VAR_021468
Natural varianti308 – 3081H → Y in MCD; unknown pathological significance. 1 Publication
VAR_075526
Natural varianti358 – 3581Y → D in MCD. 1 Publication
VAR_021469
Natural varianti358 – 3581Y → H in MCD; found in a compound heterozygote also carrying an early stop codon. 2 Publications
VAR_075527
Natural varianti369 – 3691N → D.
Corresponds to variant rs35036798 [ dbSNP | Ensembl ].
VAR_033735

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005255955.3.
XP_011521387.1. XM_011523085.1.
UniGeneiHs.655622.

Genome annotation databases

EnsembliENST00000332272; ENSP00000328983; ENSG00000183196.
ENST00000390664; ENSP00000375079; ENSG00000183196.
GeneIDi4166.
KEGGihsa:4166.
UCSCiuc002fef.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005255955.3.
XP_011521387.1. XM_011523085.1.
UniGeneiHs.655622.

3D structure databases

ProteinModelPortaliQ9GZX3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110334. 13 interactions.
STRINGi9606.ENSP00000328983.

PTM databases

iPTMnetiQ9GZX3.
PhosphoSiteiQ9GZX3.

Polymorphism and mutation databases

BioMutaiCHST6.

Proteomic databases

EPDiQ9GZX3.
PaxDbiQ9GZX3.
PeptideAtlasiQ9GZX3.
PRIDEiQ9GZX3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332272; ENSP00000328983; ENSG00000183196.
ENST00000390664; ENSP00000375079; ENSG00000183196.
GeneIDi4166.
KEGGihsa:4166.
UCSCiuc002fef.4. human.

Organism-specific databases

CTDi4166.
GeneCardsiCHST6.
HGNCiHGNC:6938. CHST6.
MalaCardsiCHST6.
MIMi217800. phenotype.
605294. gene.
neXtProtiNX_Q9GZX3.
Orphaneti98969. Macular corneal dystrophy.
PharmGKBiPA26506.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJXD. Eukaryota.
ENOG4110V0B. LUCA.
GeneTreeiENSGT00530000062902.
HOGENOMiHOG000261614.
HOVERGENiHBG050949.
InParanoidiQ9GZX3.
KOiK09671.
OMAiNGFTWAS.
OrthoDBiEOG7RZ5S0.
PhylomeDBiQ9GZX3.
TreeFamiTF342871.

Enzyme and pathway databases

ReactomeiR-HSA-2022854. Keratan sulfate biosynthesis.
R-HSA-3656225. Defective CHST6 causes MCDC1.

Miscellaneous databases

ChiTaRSiCHST6. human.
GeneWikiiCHST6.
GenomeRNAii4166.
PROiQ9GZX3.
SOURCEiSearch...

Gene expression databases

BgeeiQ9GZX3.
CleanExiHS_CHST6.
GenevisibleiQ9GZX3. HS.

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.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY, VARIANTS MCD 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 MCD 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 MCD 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 MCD 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 MCD 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 MCD 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 MCD 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 MCD 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 MCD 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 MCD 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 MCD 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 MCD LEU-51; SER-72; GLY-102; VAL-104; CYS-110; PRO-122; ARG-200 AND PRO-276.
  17. Cited for: VARIANTS MCD ARG-200; PRO-276 AND ASP-358.
  18. "Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6."
    Dang X., Zhu Q., Wang L., Su H., Lin H., Zhou N., Liang T., Wang Z., Huang S., Ren Q., Qi Y.
    Mol. Vis. 15:700-705(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCD HIS-358.
  19. "Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy."
    Patel D.A., Harocopos G.J., Chang S.H., Vora S.C., Lubniewski A.J., Huang A.J.
    Cornea 30:664-669(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCD GLY-177; ARG-186 AND GLN-211.
  20. "A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene."
    Lee Y.K., Chang D.J., Chung S.K.
    Korean J. Ophthalmol. 27:454-458(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCD TRP-205.
  21. "Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations."
    Park S.H., Ahn Y.J., Chae H., Kim Y., Kim M.S., Kim M.
    Mol. Vis. 21:1201-1209(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCD PHE-118; ARG-174; ARG-186; TRP-205; LYS-274; TYR-308 AND HIS-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: July 6, 2016
This is version 126 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

PubMed:12824236 reported a Gly-204 variant, however according to their results reported in figure 1, it is a Gln-204 variant.Curated

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.