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Q7LGC8

- CHST3_HUMAN

UniProt

Q7LGC8 - CHST3_HUMAN

Protein

Carbohydrate sulfotransferase 3

Gene

CHST3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      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 the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen.2 Publications

    Catalytic activityi

    3'-phosphoadenylyl sulfate + chondroitin = adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi141 – 1477PAPSBy similarity
    Nucleotide bindingi301 – 3099PAPSBy similarity

    GO - Molecular functioni

    1. chondroitin 6-sulfotransferase activity Source: UniProtKB
    2. proteoglycan sulfotransferase activity Source: Ensembl
    3. sulfotransferase activity Source: ProtInc

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. chondroitin sulfate biosynthetic process Source: UniProtKB
    3. chondroitin sulfate metabolic process Source: Reactome
    4. glycosaminoglycan metabolic process Source: Reactome
    5. small molecule metabolic process Source: Reactome
    6. sulfur compound metabolic process Source: UniProtKB
    7. T cell homeostasis Source: Ensembl

    Keywords - Molecular functioni

    Transferase

    Keywords - Biological processi

    Carbohydrate metabolism

    Enzyme and pathway databases

    BioCyciMetaCyc:HS04610-MONOMER.
    BRENDAi2.8.2.17. 2681.
    ReactomeiREACT_120989. Chondroitin sulfate biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Carbohydrate sulfotransferase 3 (EC:2.8.2.17)
    Alternative name(s):
    Chondroitin 6-O-sulfotransferase 1
    Short name:
    C6ST-1
    Chondroitin 6-sulfotransferase
    Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0
    Short name:
    GST-0
    Gene namesi
    Name:CHST3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:1971. CHST3.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]: A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti222 – 2221R → W in SEDC-JD; severely impairs or abolishes the enzyme function. 1 Publication
    VAR_047856
    Natural varianti259 – 2591L → P in SEDC-JD; severely impairs or abolishes the enzyme function. 1 Publication
    VAR_047857
    Natural varianti304 – 3041R → Q in SEDC-JD; reduced enzyme activity. 1 Publication
    Corresponds to variant rs28937593 [ dbSNP | Ensembl ].
    VAR_021413
    Natural varianti307 – 3071L → P in SEDC-JD. 1 Publication
    VAR_047858
    Natural varianti372 – 3721E → K in SEDC-JD. 1 Publication
    VAR_047859

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi143095. phenotype.
    Orphaneti263463. CHST3-related skeletal dysplasia.
    PharmGKBiPA26503.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 479479Carbohydrate sulfotransferase 3PRO_0000085188Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi63 – 631N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi74 – 741N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi96 – 961N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi256 – 2561N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi420 – 4201N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi464 – 4641N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ7LGC8.
    PaxDbiQ7LGC8.
    PRIDEiQ7LGC8.

    PTM databases

    PhosphoSiteiQ7LGC8.

    Expressioni

    Tissue specificityi

    Widely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas. Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix.1 Publication

    Gene expression databases

    BgeeiQ7LGC8.
    CleanExiHS_CHST3.
    GenevestigatoriQ7LGC8.

    Organism-specific databases

    HPAiHPA055704.

    Interactioni

    Protein-protein interaction databases

    BioGridi114855. 2 interactions.
    STRINGi9606.ENSP00000362207.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7LGC8.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini39 – 479441LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 3818Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG80862.
    HOGENOMiHOG000261614.
    HOVERGENiHBG106811.
    InParanoidiQ7LGC8.
    KOiK01020.
    OMAiDCRDFLH.
    OrthoDBiEOG7RZ5S0.
    PhylomeDBiQ7LGC8.
    TreeFamiTF342871.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    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.

    Q7LGC8-1 [UniParc]FASTAAdd to Basket

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    MEKGLTLPQD CRDFVHSLKM RSKYALFLVF VVIVFVFIEK ENKIISRVSD    50
    KLKQIPQALA DANSTDPALI LAENASLLSL SELDSAFSQL QSRLRNLSLQ 100
    LGVEPAMEAA GEEEEEQRKE EEPPRPAVAG PRRHVLLMAT TRTGSSFVGE 150
    FFNQQGNIFY LFEPLWHIER TVSFEPGGAN AAGSALVYRD VLKQLFLCDL 200
    YVLEHFITPL PEDHLTQFMF RRGSSRSLCE DPVCTPFVKK VFEKYHCKNR 250
    RCGPLNVTLA AEACRRKEHM ALKAVRIRQL EFLQPLAEDP RLDLRVIQLV 300
    RDPRAVLASR MVAFAGKYKT WKKWLDDEGQ DGLREEEVQR LRGNCESIRL 350
    SAELGLRQPA WLRGRYMLVR YEDVARGPLQ KAREMYRFAG IPLTPQVEDW 400
    IQKNTQAAHD GSGIYSTQKN SSEQFEKWRF SMPFKLAQVV QAACGPAMRL 450
    FGYKLARDAA ALTNRSVSLL EERGTFWVT 479
    Length:479
    Mass (Da):54,706
    Last modified:October 17, 2006 - v3
    Checksum:i7C290DC4970F66E0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti387 – 3871R → P in BAA32576. (PubMed:9714738)Curated
    Sequence conflicti443 – 4431A → P in BAA32576. (PubMed:9714738)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti222 – 2221R → W in SEDC-JD; severely impairs or abolishes the enzyme function. 1 Publication
    VAR_047856
    Natural varianti259 – 2591L → P in SEDC-JD; severely impairs or abolishes the enzyme function. 1 Publication
    VAR_047857
    Natural varianti304 – 3041R → Q in SEDC-JD; reduced enzyme activity. 1 Publication
    Corresponds to variant rs28937593 [ dbSNP | Ensembl ].
    VAR_021413
    Natural varianti307 – 3071L → P in SEDC-JD. 1 Publication
    VAR_047858
    Natural varianti348 – 3481I → M.
    Corresponds to variant rs3740128 [ dbSNP | Ensembl ].
    VAR_021414
    Natural varianti357 – 3571R → Q.2 Publications
    Corresponds to variant rs3740129 [ dbSNP | Ensembl ].
    VAR_021415
    Natural varianti372 – 3721E → K in SEDC-JD. 1 Publication
    VAR_047859

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB012192 mRNA. Translation: BAA32576.1.
    AB017915 mRNA. Translation: BAA36348.1.
    BC093690 mRNA. Translation: AAH93690.1.
    BC104856 mRNA. Translation: AAI04857.1.
    CCDSiCCDS7312.1.
    RefSeqiNP_004264.2. NM_004273.4.
    XP_006718138.1. XM_006718075.1.
    UniGeneiHs.158304.

    Genome annotation databases

    EnsembliENST00000373115; ENSP00000362207; ENSG00000122863.
    GeneIDi9469.
    KEGGihsa:9469.
    UCSCiuc001jsn.3. human.

    Polymorphism databases

    DMDMi116241297.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB012192 mRNA. Translation: BAA32576.1 .
    AB017915 mRNA. Translation: BAA36348.1 .
    BC093690 mRNA. Translation: AAH93690.1 .
    BC104856 mRNA. Translation: AAI04857.1 .
    CCDSi CCDS7312.1.
    RefSeqi NP_004264.2. NM_004273.4.
    XP_006718138.1. XM_006718075.1.
    UniGenei Hs.158304.

    3D structure databases

    ProteinModelPortali Q7LGC8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114855. 2 interactions.
    STRINGi 9606.ENSP00000362207.

    PTM databases

    PhosphoSitei Q7LGC8.

    Polymorphism databases

    DMDMi 116241297.

    Proteomic databases

    MaxQBi Q7LGC8.
    PaxDbi Q7LGC8.
    PRIDEi Q7LGC8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373115 ; ENSP00000362207 ; ENSG00000122863 .
    GeneIDi 9469.
    KEGGi hsa:9469.
    UCSCi uc001jsn.3. human.

    Organism-specific databases

    CTDi 9469.
    GeneCardsi GC10P073724.
    GeneReviewsi CHST3.
    HGNCi HGNC:1971. CHST3.
    HPAi HPA055704.
    MIMi 143095. phenotype.
    603799. gene.
    neXtProti NX_Q7LGC8.
    Orphaneti 263463. CHST3-related skeletal dysplasia.
    PharmGKBi PA26503.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG80862.
    HOGENOMi HOG000261614.
    HOVERGENi HBG106811.
    InParanoidi Q7LGC8.
    KOi K01020.
    OMAi DCRDFLH.
    OrthoDBi EOG7RZ5S0.
    PhylomeDBi Q7LGC8.
    TreeFami TF342871.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS04610-MONOMER.
    BRENDAi 2.8.2.17. 2681.
    Reactomei REACT_120989. Chondroitin sulfate biosynthesis.

    Miscellaneous databases

    GenomeRNAii 9469.
    NextBioi 35486.
    PROi Q7LGC8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q7LGC8.
    CleanExi HS_CHST3.
    Genevestigatori Q7LGC8.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    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. "Molecular cloning and expression of human chondroitin 6-sulfotransferase."
      Fukuta M., Kobayashi Y., Uchimura K., Kimata K., Habuchi O.
      Biochim. Biophys. Acta 1399:57-61(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
      Tissue: Fetal brain.
    2. "Functional expression and genomic structure of human chondroitin 6-sulfotransferase."
      Tsutsumi K., Shimakawa H., Kitagawa H., Sugahara K.
      FEBS Lett. 441:235-241(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
      Tissue: Placenta.
    3. "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], VARIANT GLN-357.
      Tissue: Liver.
    4. "Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement."
      Thiele H., Sakano M., Kitagawa H., Sugahara K., Rajab A., Hoehne W., Ritter H., Leschik G., Nuernberg P., Mundlos S.
      Proc. Natl. Acad. Sci. U.S.A. 101:10155-10160(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SEDC-JD GLN-304.
    5. "Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis."
      Hermanns P., Unger S., Rossi A., Perez-Aytes A., Cortina H., Bonafe L., Boccone L., Setzu V., Dutoit M., Sangiorgi L., Pecora F., Reicherter K., Nishimura G., Spranger J., Zabel B., Superti-Furga A.
      Am. J. Hum. Genet. 82:1368-1374(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SEDC-JD TRP-222; PRO-259; PRO-307 AND LYS-372, VARIANT GLN-357, CHARACTERIZATION OF VARIANTS SEDC-JD TRP-222 AND PRO-259.

    Entry informationi

    Entry nameiCHST3_HUMAN
    AccessioniPrimary (citable) accession number: Q7LGC8
    Secondary accession number(s): O75099, Q52M30
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 15, 2005
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 103 of the entry and version 3 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: 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