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

CHST14 Gene

protein-coding   GIFtS: 55
GCID: GC15P040763

carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase...

(Previous name: dermatan 4 sulfotransferase 1 )
(Previous symbol: D4ST1)
 Explore 8 diseases affiliated with
CHST14 via our new
 Human Malady Compendium 
Biological research products
for CHST14
    

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

Aliases
Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 141 2     HNK1ST2
D4ST11 2 3 5     Carbohydrate Sulfotransferase 142
Dermatan 4 Sulfotransferase 11 2     EC 2.8.2.353
D4ST-11 3     Dermatan 4-Sulfotransferase 13
ATCS2 5     HD4ST11
HD4ST1     

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

Entrez Gene summary for CHST14:
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)

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


(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_010194.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CHST14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: CHSTE_HUMAN, Q8NCH0 (See protein sequence)
Recommended Name: Carbohydrate sulfotransferase 14  
Size: 376 amino acids; 42997 Da
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NCH0

  • CHST14 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_569735.1  
    ENSEMBL proteins: 
     ENSP00000453882   ENSP00000307297  
    Reactome Protein details: Q8NCH0
    Human Recombinant Protein Products: 
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    Uscn Proteins for CHST14

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016021integral to membrane NAS11470797


    CHST14 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CHST14


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

    CHST14 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    (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: 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

    miRNA
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    hsa-mir-124 (MIRT004912)

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    8/11 QIAGEN miScript miRNA 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
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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


    CHST14 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Chst14tm1Lex for CHST14
         1 MGI phenotypic allele for Chst14 (no phenotypes)

    CHST14 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 - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/14 pathways (see all 14)
    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
    MPS IV - Morquio syndrome A1.00
    MPS II - Hunter syndrome1.00
    2dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis1.00
    Glycosaminoglycan biosynthesis - chondroitin sulfate0.73
    3Disease
    Disease1.00
    4Metabolism
    Metabolism1.00
    5dermatan sulfate biosynthesis (late stages)
    dermatan sulfate biosynthesis (late stages)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/18        Reactome Pathways for CHST14 (see all 18)
        Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Dermatan sulfate biosynthesis


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


    CHST14 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHST14

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

    5/10 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): 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:0016051carbohydrate biosynthetic process IEA--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030204chondroitin sulfate metabolic process TAS--
    GO:0030208dermatan sulfate biosynthetic process TAS--


    CHST14 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

    CHST14 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHST14

    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 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)

    Search CenterWatch for drugs/clinical trials and news about CHST14 / CHSTE 

    (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 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)

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    8/11 QIAGEN miScript miRNA 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
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    Additional cDNA 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 

    24/98 AceView cDNA sequences (see all 98):

    BQ021169 BQ270626 AY358446 NM_130468 AA737909 BI711377 CD636073 AI217275 
    BQ128330 BC049214 AL040909 BE902668 BM803102 BC023653 AB066595 BM988613 
    BM724090 BC009883 AI610359 BQ018416 CN485282 BC053633 AF401222 BI710926 

    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™, 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

    CHST14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCCTCAGGA

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

    About this image
    See CHST14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHST14

    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

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CHST14 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CHST141 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase more 69.95(n)
    68.17(a)
      770193  XM_003641286.1  XP_003641334.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHST146
    --
    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 


    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)
    About This Section
    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

    CHST14 for paralogs           About GeneDecksing



    (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

    10/88 NCBI SNPs in CHST14 are shown (see all 88    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1114048521,2
    --17605076(+) GACCAG/TGTTCC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1136139011,2
    --17605254(+) GTGTGG/CTGTCC 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120
    rs1159206851,2
    C,F,--17605470(+) TTAAAG/AGACAT 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs797851961,2
    C,F,--17605787(+) NNNNCC/TTTCTG 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs740111581,2
    C,--17606133(+) TATTCG/CTCTGC 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs569081561,2
    F,--17606720(+) CGCTGC/TCCGCC 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs129025211,2
    C,F,H--17607096(+) gcccgC/ATTCGG 1 -- ut51 ese32Minor allele frequency- A:0.01NS 394
    rs6676231,2
    C,F,A,H,--17609218(-) TGCTCA/GCCTTA 1 -- ds500133Minor allele frequency- T:0.00EA NA MN NS WA 3508
    rs43403061,2
    H--17609405(+) AGATCA/TCAGAC 1 -- ds50014Minor allele frequency- T:0.00NS EA 416
    rs1892000111,2
    --40761352(+) TGGTGA/GCACAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CHST14 (40763160 - 40765357 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CHST14
         1 CNV: 47928
    Human Gene Mutation Database (HGMD): CHST14

    Locus Specific Mutation Databases (LSDB): CHST14

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    (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

    CHST14 for disorders           About GeneDecksing

    OMIM gene information: 608429   
    OMIM disorders: 601776  
    UniProtKB/Swiss-Prot: CHSTE_HUMAN, Q8NCH0
  • Defects in CHST14 are the cause of Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]. It is
  • 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

    8 diseases for CHST14:    About MalaCards
    adducted thumb and clubfoot syndrome    ehlers-danlos syndrome, musculocontractural type    clubfoot    ehlers-danlos syndrome
    tethered spinal cord syndrome    hypotonia    thyroid cancer    thyroiditis

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

    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)
    About This Section

    PubMed articles for CHST14 gene, integrated from 9 sources (see all 18):
    (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. (2001)
    2. Dermatan 4-O-sulfotransferase 1 is pivotal in the for mation of iduronic acid blocks in dermatan sulfate. (PubMed id 19661164)1, 2, 9 Pacheco B....MalmstrAPm A. (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. (2003)
    4. Loss of dermatan-4-sulfotransferase 1 function result s in adducted thumb-clubfoot syndrome. (PubMed id 20004762)1, 2, 9 DA1ndar M....Janecke A.R. (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. (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. (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. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    OMIM
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      (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)
    About This Section
    Entrez Gene: 113189 HGNC: 24464 AceView: D4ST1 Ensembl:ENSG00000169105 euGenes: HUgn113189
    ECgene: CHST14 Kegg: 113189 H-InvDB: CHST14

    (According to HUGE)
    About This Section
      --

    (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 CHST14 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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