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Q9GZX3

- CHST6_HUMAN

UniProt

Q9GZX3 - CHST6_HUMAN

Protein

Carbohydrate sulfotransferase 6

Gene

CHST6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    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

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

    GO - Biological processi

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

    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

    GO - Cellular componenti

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

    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.13 Publications
    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.
    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 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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 55CytoplasmicSequence Analysis
    Topological domaini27 – 395369LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei6 – 2621Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    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

    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: October 1, 2014
    This is version 110 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

    External Data

    Dasty 3