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Q86X52

- CHSS1_HUMAN

UniProt

Q86X52 - CHSS1_HUMAN

Protein

Chondroitin sulfate synthase 1

Gene

CHSY1

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 3 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.2 Publications

    Catalytic activityi

    UDP-N-acetyl-alpha-D-galactosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan.
    UDP-alpha-D-glucuronate + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.

    Cofactori

    Divalent cations. Highest activities are measured with cobalt, manganese and cadmium.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi633 – 6331Divalent metal cationSequence Analysis
    Metal bindingi747 – 7471Divalent metal cationSequence Analysis

    GO - Molecular functioni

    1. glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity Source: MGI
    2. metal ion binding Source: UniProtKB-KW
    3. N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity Source: UniProtKB-EC

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. chondroitin sulfate biosynthetic process Source: MGI
    3. chondroitin sulfate metabolic process Source: Reactome
    4. glycosaminoglycan metabolic process Source: Reactome
    5. negative regulation of ossification Source: UniProtKB
    6. response to nutrient levels Source: Ensembl
    7. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Transferase

    Keywords - Ligandi

    Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS13400-MONOMER.
    BRENDAi2.4.1.175. 2681.
    ReactomeiREACT_120989. Chondroitin sulfate biosynthesis.
    SABIO-RKQ86X52.

    Protein family/group databases

    CAZyiGT31. Glycosyltransferase Family 31.
    GT7. Glycosyltransferase Family 7.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Chondroitin sulfate synthase 1 (EC:2.4.1.175, EC:2.4.1.226)
    Alternative name(s):
    Chondroitin glucuronyltransferase 1
    Chondroitin synthase 1
    Short name:
    ChSy-1
    Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1
    N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1
    N-acetylgalactosaminyltransferase 1
    Gene namesi
    Name:CHSY1
    Synonyms:CHSY, CSS1, KIAA0990
    ORF Names:UNQ756/PRO1487
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:17198. CHSY1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB
    2. Golgi cisterna membrane Source: UniProtKB-SubCell
    3. Golgi membrane Source: Reactome
    4. integral component of membrane Source: UniProtKB-KW
    5. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Golgi apparatus, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282]: A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 2810Missing in TPBS.
    VAR_065821
    Natural varianti539 – 5391P → R in TPBS. 1 Publication
    VAR_065822

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi605282. phenotype.
    Orphaneti363417. Temtamy preaxial brachydactyly syndrome.
    PharmGKBiPA26509.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 802802Chondroitin sulfate synthase 1PRO_0000189558Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi189 – 1891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi623 – 6231N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi796 – 7961N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ86X52.
    PaxDbiQ86X52.
    PRIDEiQ86X52.

    PTM databases

    PhosphoSiteiQ86X52.

    Expressioni

    Tissue specificityi

    Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocytes.2 Publications

    Gene expression databases

    BgeeiQ86X52.
    CleanExiHS_CHSY1.
    GenevestigatoriQ86X52.

    Organism-specific databases

    HPAiHPA048902.

    Interactioni

    Subunit structurei

    Binds CHPF.

    Protein-protein interaction databases

    BioGridi116526. 1 interaction.
    IntActiQ86X52. 1 interaction.
    STRINGi9606.ENSP00000254190.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86X52.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini29 – 802774LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi449 – 4546Poly-Leu

    Sequence similaritiesi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG325444.
    HOGENOMiHOG000220809.
    HOVERGENiHBG050948.
    InParanoidiQ86X52.
    KOiK13499.
    OMAiYRIKYPK.
    OrthoDBiEOG74TWXX.
    PhylomeDBiQ86X52.
    TreeFamiTF318303.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR008428. Chond_GalNAc.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR12369. PTHR12369. 1 hit.
    PfamiPF05679. CHGN. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 3 hits.

    Sequencei

    Sequence statusi: Complete.

    Q86X52-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAARGRRAWL SVLLGLVLGF VLASRLVLPR ASELKRAGPR RRASPEGCRS    50
    GQAAASQAGG ARGDARGAQL WPPGSDPDGG PRDRNFLFVG VMTAQKYLQT 100
    RAVAAYRTWS KTIPGKVQFF SSEGSDTSVP IPVVPLRGVD DSYPPQKKSF 150
    MMLKYMHDHY LDKYEWFMRA DDDVYIKGDR LENFLRSLNS SEPLFLGQTG 200
    LGTTEEMGKL ALEPGENFCM GGPGVIMSRE VLRRMVPHIG KCLREMYTTH 250
    EDVEVGRCVR RFAGVQCVWS YEMQQLFYEN YEQNKKGYIR DLHNSKIHQA 300
    ITLHPNKNPP YQYRLHSYML SRKISELRHR TIQLHREIVL MSKYSNTEIH 350
    KEDLQLGIPP SFMRFQPRQR EEILEWEFLT GKYLYSAVDG QPPRRGMDSA 400
    QREALDDIVM QVMEMINANA KTRGRIIDFK EIQYGYRRVN PMYGAEYILD 450
    LLLLYKKHKG KKMTVPVRRH AYLQQTFSKI QFVEHEELDA QELAKRINQE 500
    SGSLSFLSNS LKKLVPFQLP GSKSEHKEPK DKKINILIPL SGRFDMFVRF 550
    MGNFEKTCLI PNQNVKLVVL LFNSDSNPDK AKQVELMRDY RIKYPKADMQ 600
    ILPVSGEFSR ALALEVGSSQ FNNESLLFFC DVDLVFTTEF LQRCRANTVL 650
    GQQIYFPIIF SQYDPKIVYS GKVPSDNHFA FTQKTGFWRN YGFGITCIYK 700
    GDLVRVGGFD VSIQGWGLED VDLFNKVVQA GLKTFRSQEV GVVHVHHPVF 750
    CDPNLDPKQY KMCLGSKAST YGSTQQLAEM WLEKNDPSYS KSSNNNGSVR 800
    TA 802
    Length:802
    Mass (Da):91,784
    Last modified:October 17, 2006 - v3
    Checksum:i5B4C02670332FA0E
    GO

    Sequence cautioni

    The sequence BAA76834.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti274 – 2741Q → R in AAQ88893. (PubMed:12975309)Curated
    Sequence conflicti588 – 5881R → T in BAB64936. (PubMed:11514575)Curated
    Sequence conflicti588 – 5881R → T in BAA76834. (PubMed:10231032)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 2810Missing in TPBS.
    VAR_065821
    Natural varianti359 – 3591P → S.
    Corresponds to variant rs3743193 [ dbSNP | Ensembl ].
    VAR_021173
    Natural varianti539 – 5391P → R in TPBS. 1 Publication
    VAR_065822
    Natural varianti652 – 6521Q → H.
    Corresponds to variant rs4426333 [ dbSNP | Ensembl ].
    VAR_028009

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB071402 mRNA. Translation: BAB64936.1.
    AB023207 mRNA. Translation: BAA76834.2. Different initiation.
    AY358529 mRNA. Translation: AAQ88893.1.
    BC046247 mRNA. Translation: AAH46247.1.
    CCDSiCCDS10390.1.
    RefSeqiNP_055733.2. NM_014918.4.
    UniGeneiHs.110488.

    Genome annotation databases

    EnsembliENST00000254190; ENSP00000254190; ENSG00000131873.
    GeneIDi22856.
    KEGGihsa:22856.
    UCSCiuc010usd.2. human.

    Polymorphism databases

    DMDMi116241296.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Chondroitin sulfate synthase 1

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB071402 mRNA. Translation: BAB64936.1 .
    AB023207 mRNA. Translation: BAA76834.2 . Different initiation.
    AY358529 mRNA. Translation: AAQ88893.1 .
    BC046247 mRNA. Translation: AAH46247.1 .
    CCDSi CCDS10390.1.
    RefSeqi NP_055733.2. NM_014918.4.
    UniGenei Hs.110488.

    3D structure databases

    ProteinModelPortali Q86X52.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116526. 1 interaction.
    IntActi Q86X52. 1 interaction.
    STRINGi 9606.ENSP00000254190.

    Protein family/group databases

    CAZyi GT31. Glycosyltransferase Family 31.
    GT7. Glycosyltransferase Family 7.

    PTM databases

    PhosphoSitei Q86X52.

    Polymorphism databases

    DMDMi 116241296.

    Proteomic databases

    MaxQBi Q86X52.
    PaxDbi Q86X52.
    PRIDEi Q86X52.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000254190 ; ENSP00000254190 ; ENSG00000131873 .
    GeneIDi 22856.
    KEGGi hsa:22856.
    UCSCi uc010usd.2. human.

    Organism-specific databases

    CTDi 22856.
    GeneCardsi GC15M101715.
    H-InvDB HIX0172828.
    HGNCi HGNC:17198. CHSY1.
    HPAi HPA048902.
    MIMi 605282. phenotype.
    608183. gene.
    neXtProti NX_Q86X52.
    Orphaneti 363417. Temtamy preaxial brachydactyly syndrome.
    PharmGKBi PA26509.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG325444.
    HOGENOMi HOG000220809.
    HOVERGENi HBG050948.
    InParanoidi Q86X52.
    KOi K13499.
    OMAi YRIKYPK.
    OrthoDBi EOG74TWXX.
    PhylomeDBi Q86X52.
    TreeFami TF318303.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS13400-MONOMER.
    BRENDAi 2.4.1.175. 2681.
    Reactomei REACT_120989. Chondroitin sulfate biosynthesis.
    SABIO-RK Q86X52.

    Miscellaneous databases

    GeneWikii CHSY1.
    GenomeRNAii 22856.
    NextBioi 43341.
    PROi Q86X52.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q86X52.
    CleanExi HS_CHSY1.
    Genevestigatori Q86X52.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR008428. Chond_GalNAc.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR12369. PTHR12369. 1 hit.
    Pfami PF05679. CHGN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 3 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and expression of a human chondroitin synthase."
      Kitagawa H., Uyama T., Sugahara K.
      J. Biol. Chem. 276:38721-38726(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    2. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    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: Brain.
    5. "Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization."
      Kitagawa H., Izumikawa T., Uyama T., Sugahara K.
      J. Biol. Chem. 278:23666-23671(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CHPF.
    6. Cited for: COFACTOR, TISSUE SPECIFICITY.
    7. "Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling."
      Tian J., Ling L., Shboul M., Lee H., O'Connor B., Merriman B., Nelson S.F., Cool S., Ababneh O.H., Al-Hadidy A., Masri A., Hamamy H., Reversade B.
      Am. J. Hum. Genet. 87:768-778(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN TPBS.
    8. "Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling."
      Li Y., Laue K., Temtamy S., Aglan M., Kotan L.D., Yigit G., Canan H., Pawlik B., Nurnberg G., Wakeling E.L., Quarrell O.W., Baessmann I., Lanktree M.B., Yilmaz M., Hegele R.A., Amr K., May K.W., Nurnberg P.
      , Topaloglu A.K., Hammerschmidt M., Wollnik B.
      Am. J. Hum. Genet. 87:757-767(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TPBS 19-GLY--LEU-28 DEL AND ARG-539.

    Entry informationi

    Entry nameiCHSS1_HUMAN
    AccessioniPrimary (citable) accession number: Q86X52
    Secondary accession number(s): Q6UX38, Q7LFU5, Q9Y2J5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 2005
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 110 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 15
      Human chromosome 15: 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