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CHST1 Gene

protein-coding   GIFtS: 62
GCID: GC11M045670

Carbohydrate (Keratan Sulfate Gal-6) Sulfotransferase 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Carbohydrate (Keratan Sulfate Gal-6) Sulfotransferase 11 2     C6ST2
Galactose/N-Acetylglucosamine/N-Acetylglucosamine 6-O-Sulfotransferase 12 3     Carbohydrate (Chondroitin 6/Keratan) Sulfotransferase 12
GST-12 3     Carbohydrate Sulfotransferase 12
KS6ST2 3     Keratan Sulfate Gal-6 Sulfotransferase3
KSGal6ST2 3     KSGAL6ST5
KSST2 3     EC 2.8.28
EC 2.8.2.213 8     

External Ids:    HGNC: 19691   Entrez Gene: 85342   Ensembl: ENSG000001752647   OMIM: 6037975   UniProtKB: O439163   

Export aliases for CHST1 gene to outside databases

Previous GC identifers: GC11M047454 GC11M046360 GC11M045702 GC11M045634 GC11M045627 GC11M045378


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CHST1 Gene:
This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the
sulfation of the proteoglycan keratin. (provided by RefSeq, Aug 2011)

GeneCards Summary for CHST1 Gene:
CHST1 (carbohydrate (keratan sulfate Gal-6) sulfotransferase 1) is a protein-coding gene. Diseases associated with CHST1 include spondyloepiphyseal dysplasia omani type, and macular corneal dystrophy. GO annotations related to this gene include sulfotransferase activity and keratan sulfotransferase activity. An important paralog of this gene is CHST4.

UniProtKB/Swiss-Prot: CHST1_HUMAN, O43916
Function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the
transfer of sulfate to position 6 of galactose (Gal) residues of keratan. Has a preference for sulfating keratan
sulfate, but it also transfers sulfate to the unsulfated polymer. The sulfotransferase activity on sialyl LacNAc
structures is much higher than the corresponding desialylated substrate, and only internal Gal residues are
sulfated. May function in the sulfation of sialyl N-acetyllactosamine oligosaccharide chains attached to
glycoproteins. Participates in biosynthesis of selectin ligands. Selectin ligands are present in high endothelial
cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation

Gene Wiki entry for CHST1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHST1 gene promoter:
         LHX3b/Lhx3b   C/EBPbeta   LCR-F1   NF-kappaB   Max   AREB6   HOXA5   NF-kappaB2   LHX3a/Lhx3a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHST1 promoter sequence
   Search Chromatin IP Primers for CHST1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHST1


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

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

CHST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHST1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M045670:  view genomic region     (about GC identifiers)

Start:
45,670,427 bp from pter      End:
45,687,172 bp from pter
Size:
16,746 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CHST1_HUMAN, O43916 (See protein sequence)
Recommended Name: Carbohydrate sulfotransferase 1  
Size: 411 amino acids; 46715 Da
Caution: Was originally (PubMed:9639683) thought to be the ortholog of chicken CHST3 and therefore named C6ST.
However, it has no strong chondroitin 6-sulfotransferase activity
Secondary accessions: D3DQP2

Explore the universe of human proteins at neXtProt for CHST1: NX_O43916

Explore proteomics data for CHST1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn56, Asn145, Asn189, Asn334
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CHST1 (O43916) (see all 11)
     LVEDPRL  CDLYFLE  YMLVRYED  TGRKPYNLD 


    See CHST1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003645.1  
    ENSEMBL proteins: 
     ENSP00000309270  
    Reactome Protein details: O43916

    CHST1 Human Recombinant Protein Products:

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    CHST1 Antibody Products:

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    Cloud-Clone Corp. CLIAs for CHST1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SULTM: Sulfotransferases, membrane-bound

    3 InterPro protein domains:
     IPR016469 Carbohydrate_sulfotransferase
     IPR000863 Sulfotransferase_dom
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry O43916

    ProtoNet protein and cluster: O43916

    UniProtKB/Swiss-Prot: CHST1_HUMAN, O43916
    Similarity: Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily


    CHST1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHST1_HUMAN, O43916
    Function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the
    transfer of sulfate to position 6 of galactose (Gal) residues of keratan. Has a preference for sulfating keratan
    sulfate, but it also transfers sulfate to the unsulfated polymer. The sulfotransferase activity on sialyl LacNAc
    structures is much higher than the corresponding desialylated substrate, and only internal Gal residues are
    sulfated. May function in the sulfation of sialyl N-acetyllactosamine oligosaccharide chains attached to
    glycoproteins. Participates in biosynthesis of selectin ligands. Selectin ligands are present in high endothelial
    cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation
    Catalytic activity: 3'-phosphoadenylyl sulfate + keratan = adenosine 3',5'-bisphosphate + keratan 6'-sulfate

         Genatlas biochemistry entry for CHST1:
    chondroitin 6-sulfotransferase key enzyme 1,expressed in vascular endothelial cells,implicated in
    chondrogenesis,neoplasia,atherosclerosis and other

         Enzyme Numbers (IUBMB): EC 2.8.2.211 2 EC 2.8.22

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008146sulfotransferase activity IDA10330415
    GO:0045130keratan sulfotransferase activity IDA9405439
         
    CHST1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHST1:
     Decreased POU5F1-GFP protein e 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chst1):
     behavior/neurological  cellular  hematopoietic system  immune system  mortality/aging 

    CHST1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chst1tm1(KOMP)Vlcg for CHST1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHST1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CHST1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHST1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHST1

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CHST1 (see all 45):
    hsa-miR-579 hsa-miR-25 hsa-miR-128 hsa-miR-30d hsa-miR-301a hsa-miR-570 hsa-miR-30a hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidCHST1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CHST1_HUMAN, O43916: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    extracellular2
    cytoskeleton1
    cytosol1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016021integral component of membrane NAS9405439

    CHST1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CHST1 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    Glycosaminoglycan biosynthesis - keratan sulfate0.43
    Keratan sulfate biosynthesis0.85
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Biological oxidations
    metapathway biotransformation0.42
    4Metabolism
    Metabolism0.38
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CHST1
        Articular Cartilage Extracellular Matrix


    1 BioSystems Pathway for CHST1
        metapathway biotransformation


    1 Reactome Pathway for CHST1
        Keratan sulfate biosynthesis


    1 Kegg Pathway  (Kegg details for CHST1):
        Glycosaminoglycan biosynthesis - keratan sulfate


    CHST1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CHST1: 
              Drug Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CHST1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for CHST1 (O439162, 3 ENSP000003092704) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319472, 3, ENSP000003409894MINT-67184 I2D: score=5 STRING: ENSP00000340989
    CHST2ENSP000003079114STRING: ENSP00000307911
    CHST5ENSP000003387834STRING: ENSP00000338783
    CHST6ENSP000003289834STRING: ENSP00000328983
    KERAENSP000002667194STRING: ENSP00000266719
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005976polysaccharide metabolic process TAS9405439
    GO:0006012galactose metabolic process IDA10330415
    GO:0006790sulfur compound metabolic process IDA10330415
    GO:0006954inflammatory response IEA--

    CHST1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHST1

    2 HMDB Compounds for CHST1    About this table
    CompoundSynonyms CAS #PubMed Ids
    KeratanKerato sulfate (see all 4)69992-87-6--
    N-AcetyllactosamineD-galactopyranosyl (see all 8)32181-59-2--

    7 Novoseek inferred chemical compound relationships for CHST1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    keratan sulfate 88.8 31 9405439 (5), 8991509 (3), 10642612 (2), 9147050 (2) (see all 8)
    3-phosphoadenosine 5'-phosphosulfate 82.9 7 8991509 (1), 9639683 (1), 10642612 (1)
    chondroitin 82.8 17 9405439 (2), 9639683 (2), 9147050 (2), 10049591 (1) (see all 6)
    n-acetylglucosamine 64.2 2 10510083 (1), 8991509 (1)
    sulfate 56.7 14 10642612 (4), 9147050 (3), 8991509 (2), 9639683 (1)
    glycosaminoglycan 43.5 1 9639683 (1)
    galactose 35.2 2 10510083 (1), 8991509 (1)



    CHST1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CHST1 gene: 
    NM_003654.5  

    Unigene Cluster for CHST1:

    Carbohydrate (keratan sulfate Gal-6) sulfotransferase 1
    Hs.104576  [show with all ESTs]
    Unigene Representative Sequence: NM_003654
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308064(uc001mys.2) ENST00000533673 ENST00000531322
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    SwitchGear 3'UTR luciferase reporter plasmidCHST1 3' UTR sequence
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    Additional mRNA sequence: 

    AB003791.1 AF090137.1 BC022567.1 BC028235.1 U65637.1 

    3 DOTS entries:

    DT.111174  DT.303803  DT.443402 

    Selected AceView cDNA sequences (see all 75):

    AI571222 AI933050 AA582419 BQ716781 AI656107 AA682945 AW005528 AW510923 
    AF090137 AW235312 AI698458 BE350210 AW196477 AI570525 AI828098 BM975834 
    BE467344 AJ710300 BE503737 CD722840 AI480258 BQ003703 AB003791 AI280113 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CHST1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGTTGGGT
    CHST1 Expression
    About this image


    CHST1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
             Retina
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Stem Cell line 5
     
     Kidney (Urinary System)
             Renal Vesicle
     
     Bone (Muscoskeletal System)
             Chondrocytes Zeugopod Epiphyseal End
    CHST1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHST1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.104576

    UniProtKB/Swiss-Prot: CHST1_HUMAN, O43916
    Tissue specificity: Widely expressed at low level. Expressed in brain and skeletal muscle. Expressed by high
    endothelial cells (HEVs) and leukocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including CHST1: 
              Drug Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CHST1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chst11 , 5 carbohydrate (keratan sulfate Gal-6) sulfotransferase more1, 5 86.67(n)1
    94.39(a)1
      2 (51.17 cM)5
    769691  NM_023850.21  NP_076339.11 
     925997075 
    chicken
    (Gallus gallus)
    Aves CHST11 carbohydrate (keratan sulfate Gal-6) sulfotransferase more 82.4(n)
    86.37(a)
      428866  XM_426423.4  XP_426423.2 
    lizard
    (Anolis carolinensis)
    Reptilia CHST16
    carbohydrate (keratan sulfate Gal-6) sulfotransfer...
    81(a)
    1 ↔ 1
    1(47485609-47486868)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia chst11 carbohydrate (keratan sulfate Gal-6) sulfotransferase more 66.26(n)
    75(a)
      100492654  XM_002934073.2  XP_002934119.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chst11 carbohydrate (keratan sulfate Gal-6) sulfotransferase more 66.99(n)
    73.17(a)
      445124  NM_001003518.2  NP_001003518.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG95506
    CG316376
    --
    20(a)
    18(a)
    many ↔ many
    many ↔ many
    2L(6497053-6498455)
    2L(6498642-6526996)


    ENSEMBL Gene Tree for CHST1 (if available)
    TreeFam Gene Tree for CHST1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHST1 gene
    CHST42  CHST22  CHST32  CHST62  CHST72  CHST52  
    4 SIMAP similar genes for CHST1 using alignment to 1 protein entry:     CHST1_HUMAN:
    CHST3    CHST4    CHST6    CHST5

    CHST1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CHST1 (see all 411)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs356981281,2
    C--45668825(+) CCAAAG/-AATGG 1 -- ds50011Minor allele frequency- -:0.50NA 2
    rs1477005341,2
    C--45668826(+) CAAAA-/GATGGA 1 -- ds50010--------
    rs1385219881,2
    --45668843(+) GGTCTC/GAAGAG 1 -- ds50010--------
    rs1115996961,2
    F--45668855(+) CAGTTG/CTACAC 1 -- ds50011Minor allele frequency- C:0.50CSA 2
    rs1876824971,2
    --45668903(+) ATGGAA/GGCAAC 1 -- ds50010--------
    rs1906361391,2
    --45668906(+) GAAGCA/CACCCA 1 -- ds50010--------
    rs1444821301,2
    --45668911(+) AACCCA/TAGTGT 1 -- ds50010--------
    rs728967781,2
    C,F--45669006(+) ACATAT/AGCTGC 1 -- ds50012Minor allele frequency- A:0.26NA EA 240
    rs1487717071,2
    --45669008(+) ATATGC/TTGCAA 1 -- ds50010--------
    rs789503191,2
    C,F--45669063(+) TCATAA/GAAGGA 1 -- ds50011Minor allele frequency- G:0.04NA 120

    HapMap Linkage Disequilibrium report for CHST1 (45670427 - 45687172 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CHST1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1088n71CNV Loss21882294
    esv24804CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHST1
    DNA2.0 Custom Variant and Variant Library Synthesis for CHST1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603797    OMIM disorders: --

    11 diseases for CHST1:    
    About MalaCards
    spondyloepiphyseal dysplasia omani type    macular corneal dystrophy    morquio syndrome b    sly syndrome
    mucopolysaccharidoses    corneal dystrophy    endotheliitis    atherosclerosis
    malaria    cerebritis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for CHST1:
    Macular corneal dystrophy

    CHST1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CHST1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inflammation 0 1 11310842 (1)

    Genetic Association Database (GAD): CHST1
    Human Genome Epidemiology (HuGE) Navigator: CHST1 (3 documents)

    Export disorders for CHST1 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)
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    PubMed articles for CHST1 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with CHST1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of human keratan sulfate Gal- 6-sulfotransferase. (PubMed id 9405439)1, 2, 3, 9 Fukuta M.... Habuchi O. (J. Biol. Chem. 1997)
    2. Human chondroitin 6-sulfotransferase: cloning, gene structure, and chromosomal localization. (PubMed id 9639683)1, 2, 3, 9 Mazany K.D.... Williams K.J. (Biochim. Biophys. Acta 1998)
    3. Sulfation of sialyl N-acetyllactosamine oligosaccharides and fetuin oligosaccharides by keratan sulfate Gal-6-sulfotransferase. (PubMed id 10642612)1, 2, 9 Torii T.... Habuchi O. (Glycobiology 2000)
    4. CHST1 and CHST2 sulfotransferase expression by vascular endothelial cells regulates shear-resistant leukocyte rolling via L-selectin. (PubMed id 11310842)1, 2, 9 Li X.... Tedder T.F. (J. Leukoc. Biol. 2001)
    5. CHST1 and CHST2 sulfotransferases expressed by human vascular endothelial cells: cDNA cloning, expression, and chromosomal localization. (PubMed id 10049591)1, 2, 9 Li X. and Tedder T.F. (Genomics 1999)
    6. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PubMed id 21041608)1, 4 van Winkel R. (Arch. Gen. Psychiatry 2011)
    7. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    8. 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. (Genome Res. 2004)
    9. Sulfotransferases of two specificities function in the reconstitution of high endothelial cell ligands for L-selectin. (PubMed id 10330415)1, 2 Bistrup A.... Hemmerich S. (J. Cell Biol. 1999)
    10. L-selectin ligands expressed by human leukocytes are HECA-452 antibody-defined carbohydrate epitopes preferentially displayed by P-selectin glycoprotein ligand-1. (PubMed id 10528213)1, 9 Tu L....Tedder T.F. (J. Immunol. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8534 HGNC: 1969 AceView: CHST1 Ensembl:ENSG00000175264 euGenes: HUgn8534
    ECgene: CHST1 Kegg: 8534 H-InvDB: CHST1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CHST1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=CHST1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/chst1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHST1 gene:
    Search GeneIP for patents involving CHST1

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



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