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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHSY1 Gene

protein-coding   GIFtS: 59
GCID: GC15M101715

chondroitin sulfate synthase 1

(Previous name: carbohydrate (chondroitin) synthase 1 )
 Explore 3 diseases affiliated with
CHSY1 via our new
 Human Malady Compendium 
Biological research products
for CHSY1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chondroitin Sulfate Synthase 11 2     Carbohydrate (Chondroitin) Synthase 11
CSS11 2 3     TPBS2
KIAA09901 3 5     Carbohydrate Synthase 12
Chondroitin Glucuronyltransferase 12 3     Chondroitin Glucuronyltransferase II2
Chondroitin Synthase 12 3     N-Acetylgalactosaminyltransferase II2
Glucuronosyl-N-Acetylgalactosaminyl-Proteoglycan
4-Beta-N-Acetylgalactosaminyltransferase 12 3
     EC 2.4.1.1753
CHSY2 3     EC 2.4.1.2263
ChSy-12 3     N-Acetylgalactosaminyltransferase 13
N-Acetylgalactosaminyl-Proteoglycan 3-Beta-Glucuronosyltransferase 12 3     

External Ids:    HGNC: 171981   Entrez Gene: 228562   Ensembl: ENSG000001318737   OMIM: 6081835   UniProtKB: Q86X523   

Export aliases for CHSY1 gene to outside databases

Previous GC identifers: GC15M098567 GC15M095557 GC15M099308 GC15M099451 GC15M099533 GC15M077838


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHSY1:
This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual
glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of
chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and
morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are
a cause of temtamy preaxial brachydactyly syndrome. (provided by RefSeq, Dec 2011)

UniProtKB/Swiss-Prot: CHSS1_HUMAN, Q86X52
Function: 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

Gene Wiki entry for CHSY1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010274.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHSY1 gene promoter:
         AML1a   Pax-5   SREBP-1c   AP-4   SREBP-1b   GATA-2   SRY   E2F   E2F-1   HSF2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHSY1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHSY1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHSY1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q26.3   Ensembl cytogenetic band:  15q26.3   HGNC cytogenetic band: 15q26.3

CHSY1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHSY1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M101715:  view genomic region     (about GC identifiers)

Start:
101,715,928 bp from pter      End:
101,792,137 bp from pter
Size:
76,210 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CHSS1_HUMAN, Q86X52 (See protein sequence)
Recommended Name: Chondroitin sulfate synthase 1  
Size: 802 amino acids; 91784 Da
Cofactor: Divalent cations. Highest activities are measured with cobalt, manganese and cadmium
Subunit: Binds CHPF
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (Probable). Secreted
Sequence caution: Sequence=BAA76834.2; Type=Erroneous initiation;
Secondary accessions: Q6UX38 Q7LFU5 Q9Y2J5

Explore the universe of human proteins at neXtProt for CHSY1: NX_Q86X52

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86X52

  • CHSY1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055733.2  
    ENSEMBL proteins: 
     ENSP00000254190  
    Reactome Protein details: Q86X52
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    Uscn Proteins for CHSY1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005576extracellular region IDA--
    GO:0016021integral to membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--


    CHSY1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CHSY1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008428 Chond_GalNAc

    Graphical View of Domain Structure for InterPro Entry Q86X52

    ProtoNet protein and cluster: Q86X52

    UniProtKB/Swiss-Prot: CHSS1_HUMAN, Q86X52
    Similarity: Belongs to the chondroitin N-acetylgalactosaminyltransferase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CHSS1_HUMAN, Q86X52
    Function: 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
    Catalytic activity: 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
    Catalytic activity: 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

    Enzyme Numbers (IUBMB): EC 2.4.1.2261 EC 2.4.1.1751

    miRNA
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    hsa-mir-124 (MIRT002605), hsa-mir-1 (MIRT002768)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHSY1
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate CHSY1 (see all 34):
    hsa-miR-124* hsa-miR-429 hsa-miR-548k hsa-miR-29a hsa-miR-29b-1* hsa-miR-548m hsa-miR-124 hsa-miR-9
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046872metal ion binding IEA--
    GO:0047238glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IDA11514575
    GO:0050510N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity IEA--


    CHSY1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for CHSY1:
     Decreased nuclei size in G2M  Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-out Chsy1tm1Lex for CHSY1
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chsy1):
     behavior/neurological  craniofacial  hematopoietic system  immune system  limbs/digits/tail 
     skeleton  vision/eye 

    CHSY1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/14 pathways (see all 14)
    MPS VI - Maroteaux-Lamy syndrome1.00
    MPS VII - Sly syndrome1.00
    MPS IIIC - Sanfilippo syndrome C1.00
    MPS IIIA - Sanfilippo syndrome A1.00
    MPS I - Hurler syndrome1.00
    MPS IIID - Sanfilippo syndrome D1.00
    Mucopolysaccharidoses1.00
    MPS IX - Natowicz syndrome1.00
    2dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis1.00
    chondroitin and dermatan biosynthesis0.38
    Glycosaminoglycan biosynthesis - chondroitin sulfate0.73
    chondroitin sulfate biosynthesis (late stages)0.32
    chondroitin sulfate biosynthesis0.64
    Chondroitin sulfate biosynthesis0.24
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Disease
    Disease1.00
    5A tetrasaccharide linker sequence is required for GAG synthesis
    Chondroitin sulfate/dermatan sulfate metabolism0.54

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4 BioSystems Pathways for CHSY1 
        chondroitin and dermatan biosynthesis
    chondroitin sulfate biosynthesis (late stages)
    dermatan sulfate biosynthesis
    chondroitin sulfate biosynthesis

    5/18        Reactome Pathways for CHSY1 (see all 18)
        Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    MPS II - Hunter syndrome


    2         Kegg Pathways  (Kegg details for CHSY1):
        Glycosaminoglycan biosynthesis - chondroitin sulfate
    Metabolic pathways


    CHSY1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHSY1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/20 Interacting proteins for CHSY1 (ENSP000002541904) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BGNENSP000003273364STRING: ENSP00000327336
    CHPFENSP000002437764STRING: ENSP00000243776
    CHPF2ENSP000000353074STRING: ENSP00000035307
    CHST11ENSP000003057254STRING: ENSP00000305725
    CHST12ENSP000002587114STRING: ENSP00000258711
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030204chondroitin sulfate metabolic process TAS--
    GO:0030206chondroitin sulfate biosynthetic process TAS--
    GO:0030279negative regulation of ossification IMP--


    CHSY1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CHSY1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CHSY1

    7 HMDB Compounds for CHSY1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CadmiumCd (see all 6)7440-43-9--
    CobaltCo (see all 6)7440-48-4--
    Lactosaminebeta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose (see all 8)13000-25-4--
    Manganesemanganese 7439-96-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate glucuronic acidUDP glucuronate (see all 41)2616-64-0--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--
    4 Novoseek chemical compound relationships for CHSY1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chondroitin 92 57 12716890 (5), 11514575 (4), 18316376 (4), 11788602 (3) (see all 11)
    tetrasaccharide 84.7 1 18316376 (1)
    chondroitin sulfate 83.3 11 18316376 (3), 12907687 (2), 12761225 (1), 17253960 (1) (see all 5)
    glucuronic acid 76.8 1 11514575 (1)

    Search CenterWatch for drugs/clinical trials and news about CHSY1 / CHSS1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHSY1 gene: 
    NM_014918.4  

    Unigene Cluster for CHSY1:

    Chondroitin sulfate synthase 1
    Hs.110488  [show with all ESTs]
    Unigene Representative Sequence: BC046247
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254190(uc010usd.2 uc021sxt.1) ENST00000543813 ENST00000560766
    ENST00000561414 ENST00000561143 ENST00000559384

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    hsa-miR-124* hsa-miR-429 hsa-miR-548k hsa-miR-29a hsa-miR-29b-1* hsa-miR-548m hsa-miR-124 hsa-miR-9
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    Additional cDNA sequence: 

    AB023207.1 AB071402.1 AK075096.1 AK296943.1 AL137409.1 AY358529.1 BC046247.1 

    7 DOTS entries:

    DT.415599  DT.121075453  DT.100717674  DT.95374360  DT.91687328  DT.95374361  DT.121075473 

    24/166 AceView cDNA sequences (see all 166):

    CR604598 AI741626 CA413613 AA864790 AL137409 AA486453 AI476156 AA258809 
    AA369674 AI741636 AI570770 AI095909 BQ007796 AI608927 BM697629 AA703453 
    BM767157 AA281496 CK903931 BQ024150 CA445852 Z40893 AA962524 Z45166 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CHSY1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b
    SP1:                    -           -               
    SP2:                    -     -     -               
    SP3:                                                


    ECgene alternative splicing isoforms for CHSY1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHSY1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTTTGGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CHSY1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHSY1

    SOURCE GeneReport for Unigene cluster: Hs.110488

    UniProtKB/Swiss-Prot: CHSS1_HUMAN, Q86X52
    Tissue specificity: 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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CHSY1 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CHSY11 chondroitin sulfate synthase 1 82.28(n)
    92.53(a)
      415521  XM_413889.3  XP_413889.2 
    lizard
    (Anolis carolinensis)
    Reptilia CHSY16
    --
    90(a)
    1 ↔ 1
    GL343332.1(122207-181705)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.133952 Xenopus laevis transcribed sequence with weak similarity more 80.35(n)    48027170 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.111462 Danio rerio cDNA clone MGC64191 IMAGE6798417, complete more 75.66(n)    BC064670.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG92201 , 3 chondroitin sulfate biosynthesis
    acetylglucosaminyltransferase3
    CG92201
    41(a)3
    54.34(n)1
    47.66(a)1
      13D43
    324971  NM_206717.21  NP_996440.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T24D1.13   -- 35(a)   I(9956257-9960794)   --


    ENSEMBL Gene Tree for CHSY1 (if available)
    TreeFam Gene Tree for CHSY1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHSY1 gene
    CSGALNACT12  CHSY32  CHPF2  CSGALNACT22  CHPF22  
    2 SIMAP similar genes for CHSY1 using alignment to 2 protein entries:     CHSS1_HUMAN (see all proteins):
    CHSY3    ChSy-2

    CHSY1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CHSY1
    PGOHUM00000242167


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1655 NCBI SNPs in CHSY1 are shown (see all 1655    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs556563301,2
    F,--77838108(+) CTGTGC/TTGATT 1 -- int11Minor allele frequency- T:0.07EA 120
    rs49658041,2
    C,F,A,H,--77838164(+) CCCCAC/TGNNNN 1 -- int110Minor allele frequency- T:0.08NA EA NS 560
    rs1130575811,2
    C,--77838235(+) GACGCG/AGCCCA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs287547261,2
    C,--77839071(+) TGTATA/GTTTCA 1 -- ut310--------
    rs740403631,2
    C,--77839213(+) AGGCCG/AAATGA 1 -- ut312Minor allele frequency- A:0.07WA 120
    rs37845251,2
    C,--77839381(-) gcctcC/Tcgagt 1 -- ut310--------
    rs37845241,2
    C,--77839474(-) AGTCTC/TACTCT 1 -- ut310--------
    rs2016123051,2
    C--77840136(+) TCATTC/TTTTTC 2 K syn10--------
    rs44263331,2
    C,H--77840532(+) ATTTGT/GTGGCC 2 /Q /H mis1 ese36Minor allele frequency- G:0.00NS EA NA 410
    rs283648391,2
    C,F,--77840583(-) CTCGTG/CTTTAC 2 /V syn1 ese312Minor allele frequency- C:0.29MN NA WA CSA EA EU 6643

    HapMap Linkage Disequilibrium report for CHSY1 (101715928 - 101792137 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for CHSY1
         8 CNVs: 61483 102187 3983 8807 3099 66905 66904 32063
         2 Indels: 45396 66903
    Human Gene Mutation Database (HGMD): CHSY1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHSY1
    DNA2.0 Custom Variant and Variant Library Synthesis for CHSY1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CHSY1 for disorders           About GeneDecksing

    OMIM gene information: 608183    OMIM disorders: --

    UniProtKB/Swiss-Prot: CHSS1_HUMAN, Q86X52
  • Defects in CHSY1 are the cause of 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

    3 diseases for CHSY1:    About MalaCards
    temtamy preaxial brachydactyly syndrome    brachydactyly    colorectal cancer

    1 disease from the University of Copenhagen DISEASES database for CHSY1:
    Brachydactyly

    Export disorders for CHSY1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CHSY1 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with CHSY1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of a human chondroitin synthase. (PubMed id 11514575)1, 2, 3, 9 Kitagawa H.... Sugahara K. (2001)
    2. Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization. (PubMed id 12716890)1, 2, 9 Kitagawa H.... Sugahara K. (2003)
    3. Chondroitin sulfate synthase-3. Molecular cloning and characterization. (PubMed id 12907687)1, 2, 9 Yada T....Kimata K. (2003)
    4. Loss of CHSY1, a secreted FRINGE enzyme, causes syndr omic brachydactyly in humans via increased NOTCH signaling. (PubMed id 21129727)1, 2 Tian J....Reversade B. (2010)
    5. Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. (PubMed id 21129728)1, 2 Li Y....Wollnik B. (2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    8. 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. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
    9. Chondroitin synthases I, II, III and chondroitin sulf ate glucuronyltransferase expression in colorectal cancer. (PubMed id 21468578)1 Kalathas D....Vynios D.H. (2011)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22856 HGNC: 17198 AceView: CHSY1 Ensembl:ENSG00000131873 euGenes: HUgn22856
    ECgene: CHSY1 Kegg: 22856 H-InvDB: CHSY1

    (According to HUGE)
    About This Section
    HUGE: KIAA0990

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHSY1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_445

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHSY1 gene:
    Search GeneIP for patents involving CHSY1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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