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CHST14 Gene

protein-coding   GIFtS: 55
GCID: GC15P040763

Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase...

(Previous name: dermatan 4 sulfotransferase 1)
(Previous symbol: D4ST1)
  See CHST14-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 (N-Acetylgalactosamine 4-0) Sulfotransferase 141 2     Carbohydrate Sulfotransferase 142
D4ST11 2 3 5     D4ST-13
Dermatan 4 Sulfotransferase 11 2     EC 2.8.2.353
ATCS2 5     Dermatan 4-Sulfotransferase 13
EDSMC12 5     hD4ST13
HNK1ST2     

External Ids:    HGNC: 244641   Entrez Gene: 1131892   Ensembl: ENSG000001691057   OMIM: 6084295   UniProtKB: Q8NCH03   

Export aliases for CHST14 gene to outside databases

Previous GC identifers: GC15P038551 GC15P017607


(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 CHST14 Gene:
This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the
C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated
with adducted thumb-clubfoot syndrome.(provided by RefSeq, Mar 2010)

GeneCards Summary for CHST14 Gene:
CHST14 (carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14) is a protein-coding gene. Diseases associated with CHST14 include mucopolysaccharidoses, and clubfoot. GO annotations related to this gene include phosphate ion binding and N-acetylgalactosamine 4-O-sulfotransferase activity. An important paralog of this gene is CHST12.

UniProtKB/Swiss-Prot: CHSTE_HUMAN, Q8NCH0
Function: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of
dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate.
Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic
acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA-
than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of
sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. GlcUA to IdoUA. Appears to have an
important role in the formation of the cerbellar neural network during postnatal brain development

Gene Wiki entry for CHST14 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 at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHST14 gene promoter:
         Tal-1   Sp1   NRSF form 1   RelA   Nkx2-5   NF-kappaB   E47   HEN1   Zic3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHST14 promoter sequence
   Search Chromatin IP Primers for CHST14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHST14


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

Entrez Gene cytogenetic band: 15q15.1   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q15.1

CHST14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHST14 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P040763:  view genomic region     (about GC identifiers)

Start:
40,763,160 bp from pter      End:
40,765,357 bp from pter
Size:
2,198 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CHSTE_HUMAN, Q8NCH0 (See protein sequence)
Recommended Name: Carbohydrate sulfotransferase 14  
Size: 376 amino acids; 42997 Da
Sequence caution: Sequence=AAQ88811.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6PJ31 Q6UXA0 Q96P94

Explore the universe of human proteins at neXtProt for CHST14: NX_Q8NCH0

Explore proteomics data for CHST14 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys226
  • Glycosylation2 at Asn110, Asn368

  • See CHST14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_569735.1  
    ENSEMBL proteins: 
     ENSP00000453882   ENSP00000307297  
    Reactome Protein details: Q8NCH0

    CHST14 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CHST14

     
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    Search eBioscience for ELISAs for CHST14 


    (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

    2 InterPro protein domains:
     IPR005331 Sulfotransferase
     IPR018011 Carb_sulfotransferase-rel

    Graphical View of Domain Structure for InterPro Entry Q8NCH0

    ProtoNet protein and cluster: Q8NCH0

    UniProtKB/Swiss-Prot: CHSTE_HUMAN, Q8NCH0
    Similarity: Belongs to the sulfotransferase 2 family


    Find genes that share domains with CHST14           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHSTE_HUMAN, Q8NCH0
    Function: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of
    dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate.
    Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic
    acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA-
    than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of
    sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. GlcUA to IdoUA. Appears to have an
    important role in the formation of the cerbellar neural network during postnatal brain development
    Catalytic activity: 3'-phospho-5'-adenylyl sulfate + [dermatan]-N-acetyl-D-galactosamine = adenosine
    3',5'-bisphosphate + [dermatan]- 4-O-sulfo-N-acetyl-D-galactosamine

         Enzyme Number (IUBMB): EC 2.8.2.351

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001537N-acetylgalactosamine 4-O-sulfotransferase activity IDA11470797
    GO:0005515protein binding ----
    GO:0008146sulfotransferase activity ----
    GO:0042301phosphate ion binding NAS11470797
         
    Find genes that share ontologies with CHST14           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for CHST14:
     Decreased viability with pacli  Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Chst14):
     cardiovascular system  cellular  craniofacial  growth/size/body  homeostasis/metabolism 
     integument  limbs/digits/tail  liver/biliary system  mortality/aging  nervous system 
     renal/urinary system  reproductive system  skeleton 

    Find genes that share phenotypes with CHST14           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Chst14tm1Lex for CHST14

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHST14
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CHST14

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHST14
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHST14

    miRNA
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    miRTarBase miRNAs that target CHST14:
    hsa-mir-17-5p (MIRT050927), hsa-mir-106a-5p (MIRT048334), hsa-mir-193b-3p (MIRT016493), hsa-mir-124-3p (MIRT004912)

    Block miRNA regulation of human, mouse, rat CHST14 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHST14 (see all 11):
    hsa-miR-4254 hsa-miR-588 hsa-miR-548k hsa-miR-1911* hsa-miR-544b hsa-miR-124 hsa-miR-9 hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidCHST14 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CHST14
    Predesigned siRNA for gene silencing in human, mouse, rat CHST14

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CHST14 (NM_130468)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHST14

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CHST14 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST14


    (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
    CHSTE_HUMAN, Q8NCH0: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    mitochondrion2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016021integral component of membrane NAS11470797
    GO:0070062extracellular vesicular exosome IDA19199708

    Find genes that share ontologies with CHST14           About GenesLikeMe


    (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 CHST14 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    Dermatan sulfate biosynthesis0.00
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate0.00
    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
    3dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis (late stages)0.00
    4Biological oxidations
    metapathway biotransformation0.42
    5Metabolism
    Metabolism0.38


    Find genes that share SuperPaths with CHST14           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for CHST14
        dermatan sulfate biosynthesis (late stages)
    metapathway biotransformation
    dermatan sulfate biosynthesis

    1 Reactome Pathway for CHST14
        Dermatan sulfate biosynthesis


    1 Kegg Pathway  (Kegg details for CHST14):
        Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHST14
    Interactions:

        Search GeneGlobe Interaction Network for CHST14

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for CHST14 (ENSP000003072974) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHST15ENSP000003339474STRING: ENSP00000333947
    CSPG4ENSP000003125064STRING: ENSP00000312506
    DCNENSP000000527544STRING: ENSP00000052754
    DSEENSP000003321514STRING: ENSP00000332151
    BCANENSP000003312104STRING: ENSP00000331210
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0016051carbohydrate biosynthetic process IEA--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030204chondroitin sulfate metabolic process TAS--
    GO:0030208dermatan sulfate biosynthetic process TAS--

    Find genes that share ontologies with CHST14           About GenesLikeMe



    (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 CHST14 (CHSTE)

    2 HMDB Compounds for CHST14    About this table
    CompoundSynonyms CAS #PubMed Ids
    DermatanChondroitin sulfate B (see all 13)24967-94-0--
    Iduronic acidL-Iduronate (see all 3)3402-98-0--

    6 Novoseek inferred chemical compound relationships for CHST14 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iduronic acid 94.3 4 19661164 (2), 11470797 (1)
    dermatan 92.9 4 12847091 (1), 19661164 (1), 11470797 (1)
    chondroitin 86.2 1 11445554 (1)
    dermatan sulfate 83.1 7 19661164 (3), 12847091 (1), 20004762 (1)
    chondroitin sulfate 68.3 1 12847091 (1)
    sulfate 61.9 4 11470797 (3), 12847091 (1)



    Find genes that share compounds with CHST14           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CHST14 gene: 
    NM_130468.3  

    Unigene Cluster for CHST14:

    Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
    Hs.442449  [show with all ESTs]
    Unigene Representative Sequence: NM_130468
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000559991 ENST00000306243(uc001zlw.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CHST14 (see all 11):
    hsa-miR-4254 hsa-miR-588 hsa-miR-548k hsa-miR-1911* hsa-miR-544b hsa-miR-124 hsa-miR-9 hsa-miR-3613-3p
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      QuantiTect SYBR Green Assays in human, mouse, rat CHST14
      QuantiFast Probe-based Assays in human, mouse, rat CHST14

    Additional mRNA sequence: 

    AB066595.1 AF282905.1 AF401222.1 AK074739.1 AY358446.1 BC009883.2 BC023653.2 BC049214.1 
    BC053633.1 

    2 DOTS entries:

    DT.445484  DT.97774106 

    Selected AceView cDNA sequences (see all 98):

    BC049214 AL040909 AB066595 BI711377 BC053633 CD636073 BQ270626 BQ018416 
    AY358446 BC009883 BC023653 AF401222 BM724090 BE902668 BM988613 AA737909 
    CN485282 AI217275 BQ021169 BM803102 BQ128330 AI610359 NM_130468 BG829203 

    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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    CHST14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTCAGGA
    CHST14 Expression
    About this image

    CHST14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHST14 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.442449

    UniProtKB/Swiss-Prot: CHSTE_HUMAN, Q8NCH0
    Tissue specificity: Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid

        Custom PCR Arrays for CHST14
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST14

    (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 CHST14 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chst141 , 5 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase more1, 5 88.56(n)1
    92.82(a)1
      2 (59.73 cM)5
    721361  NM_028117.31  NP_082393.31 
     1189264965 
    chicken
    (Gallus gallus)
    Aves CHST141 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase more 71.3(n)
    70.99(a)
      770193  XM_003641286.2  XP_003641334.2 
    lizard
    (Anolis carolinensis)
    Reptilia CHST146
    carbohydrate (N-acetylgalactosamine 4-0) sulfotran...
    66(a)
    1 ↔ 1
    6(53505582-53506706)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL956280.22   -- 86.27(n)    AL956280.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.125102 Danio rerio zD4ST-1 mRNA for dermatan 4-sulfotransferase-1, more 78.02(n)    AB089140.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG317436
    --
    29(a)
    1 → many
    2L(16879517-16886323)


    ENSEMBL Gene Tree for CHST14 (if available)
    TreeFam Gene Tree for CHST14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHST14 gene
    CHST122  CHST132  CHST92  CHST112  CHST102  CHST82  
    2 SIMAP similar genes for CHST14 using alignment to 2 protein entries:     CHSTE_HUMAN (see all proteins):
    CHST11    CHST13

    Find genes that share paralogs with CHST14           About GenesLikeMe



    (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 CHST14 (see all 124)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0645564
    Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)4--see VAR_0645562 C S mis40--------
    VAR_0637554
    Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)4--see VAR_0637552 L Q mis40--------
    VAR_0645554
    Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)4--see VAR_0645552 P L mis40--------
    VAR_0637544
    Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)4--see VAR_0637542 R G mis40--------
    rs1114048521,2
    F--17605076(+) GACCAG/TGTTCC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1892000111,2
    --17605210(+) TGGTGA/GCACAG 1 -- us2k10--------
    rs1136139011,2
    C,F--17605254(+) GTGTGG/CTGTCC 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120
    rs1816276501,2
    --17605308(+) AGACAA/GGAAAT 1 -- us2k10--------
    rs1469626901,2
    --17605395(+) ACACAC/GAAGGG 1 -- us2k10--------
    rs64929471,2
    C,F,A,H--17605407(+) GCACAC/TGTGGC 1 -- us2k128Minor allele frequency- T:0.48NS EA NA WA CSA 2710

    HapMap Linkage Disequilibrium report for CHST14 (40763160 - 40765357 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CHST14:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv34145CNV Loss18971310

    Human Gene Mutation Database (HGMD): CHST14
    Locus Specific Mutation Databases (LSDB): CHST14

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHST14
    DNA2.0 Custom Variant and Variant Library Synthesis for CHST14

    (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.)
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    OMIM gene information: 608429   
    OMIM disorders: 601776  
    UniProtKB/Swiss-Prot: CHSTE_HUMAN, Q8NCH0
  • Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776]: A form of Ehlers-Danlos
    syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers,
    clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and
    atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 7 diseases for CHST14:    
    About MalaCards
    mucopolysaccharidoses    clubfoot    ehlers-danlos syndrome, musculocontractural type 1    ehlers-danlos syndrome, musculocontractural type
    morquio syndrome b    ehlers-danlos syndrome, musculocontractural type 2    sly syndrome

    3 diseases from the University of Copenhagen DISEASES database for CHST14:
    Thyroid cancer     Clubfoot     Ehlers-Danlos syndrome

    Find genes that share disorders with CHST14           About GenesLikeMe


    Export disorders for CHST14 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 CHST14 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with CHST14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a dermatan-specific N- acetylgalactosamine 4-O-sulfotransferase. (PubMed id 11470797)1, 2, 3, 9 Evers M.R.... Baenziger J.U. (J. Biol. Chem. 2001)
    2. Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of iduronic acid blocks in dermatan sulfate. (PubMed id 19661164)1, 2, 9 Pacheco B.... Malmstrom A. (Glycobiology 2009)
    3. Specificities of three distinct human chondroitin/dermatan N- acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor. Implication of differential roles in dermatan sulfate biosynthesis. (PubMed id 12847091)1, 2, 9 Mikami T.... Sugahara K. (J. Biol. Chem. 2003)
    4. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. (PubMed id 20004762)1, 2, 9 Dundar M.... Janecke A.R. (Am. J. Hum. Genet. 2009)
    5. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. (PubMed id 20533528)1, 2 Miyake N.... Matsumoto N. (Hum. Mutat. 2010)
    6. Musculocontractural Ehlers-Danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. (PubMed id 20842734)1, 2 Malfait F.... De Paepe A. (Hum. Mutat. 2010)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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. (Genome Res. 2003)
    10. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)

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

      Query String
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    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: 113189 HGNC: 24464 AceView: D4ST1 Ensembl:ENSG00000169105 euGenes: HUgn113189
    ECgene: CHST14 Kegg: 113189 H-InvDB: CHST14

    (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 CHST14 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHST14 gene:
    Search GeneIP for patents involving CHST14

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



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