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

DSEL Gene

protein-coding   GIFtS: 44
GCID: GC18M065173

dermatan sulfate epimerase-like

(Previous name: chromosome 18 open reading frame 4 )
(Previous symbol: C18orf4)
 Explore 7 diseases affiliated with
DSEL via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DSEL    

Aliases
for DSEL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dermatan Sulfate Epimerase-Like1 2     Chromosome 18 Open Reading Frame 41
C18orf41 2 3 5     Dermatan-Sulfate Epimerase-Like Protein2
NCAG11 2 3 5     EC 5.1.-.-3
FLJ114771     

External Ids:    HGNC: 181441   Entrez Gene: 921262   Ensembl: ENSG000001714517   OMIM: 6111255   UniProtKB: Q8IZU83   

Export aliases for DSEL gene to outside databases

Previous GC identifers: GC18M063325 GC18M061894


Summaries
for DSEL gene

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

Genomic Views
for DSEL 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_025028.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DSEL gene promoter:
         Sox5   LHX3b/Lhx3b   CUTL1   HNF-1A   HNF-1   LHX3a/Lhx3a   Chx10   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DSEL promoter sequence
   Search SABiosciences Chromatin IP Primers for DSEL

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


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

Entrez Gene cytogenetic band: 18q22.1   Ensembl cytogenetic band:  18q22.1   HGNC cytogenetic band: 18q22.1

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

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M065173:  view genomic region     (about GC identifiers)

Start:
 65,173,819 bp from pter      End:
 65,184,217 bp from pter
Size:
 10,399 bases      Orientation:
 minus strand

1 alternative location:
Chr18-,PATCHES 65,208,543-65,218,691     

Proteins
for DSEL gene

(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: DSEL_HUMAN, Q8IZU8 (See protein sequence)
Recommended Name: Dermatan-sulfate epimerase-like protein precursor  
Size: 1212 amino acids; 139238 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAI17326.1; Type=Erroneous initiation; Sequence=AAN32895.1; Type=Erroneous initiation;
Secondary accessions: Q17RH1 Q6P5Z3

Explore the universe of human proteins at neXtProt for DSEL: NX_Q8IZU8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IZU8

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

    REFSEQ proteins: NP_115536.1  
    ENSEMBL proteins: 
     ENSP00000310565  

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    Uscn Proteins for DSEL

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    DSEL for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for DSEL gene

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

    1 InterPro domain/family:
     IPR000863 Sulfotransferase_dom

    Graphical View of Domain Structure for InterPro Entry Q8IZU8

    ProtoNet protein and cluster: Q8IZU8

    UniProtKB/Swiss-Prot: DSEL_HUMAN, Q8IZU8
    Similarity: Belongs to the dermatan-sulfate isomerase family


    Function
    for DSEL gene

    (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
    Enzyme Number (IUBMB): EC 5.1.-.-1

    miRNA
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    8/106 QIAGEN miScript miRNA Assays for microRNAs that regulate DSEL (see all 106):
    hsa-miR-579 hsa-miR-3678-3p hsa-miR-3152-3p hsa-miR-3607-3p hsa-miR-631 hsa-miR-15a hsa-miR-605 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmid: DSEL 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008146sulfotransferase activity IEA--
    GO:0016853isomerase activity IEA--


    DSEL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for DSEL:
     Decreased Wnt reporter activit 


    Pathways & Interactions
    for DSEL gene

    (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



    Interactions:

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

    1 Interacting protein for DSEL (Q8IZU83) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAG2Q9UGJ03I2D: score=1 
    About this table

    Drugs & Compounds
    for DSEL gene

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

    Browse Tocris compounds for DSEL
    Search CenterWatch for drugs/clinical trials and news about DSEL 

    Transcripts
    for DSEL gene

    (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 DSEL gene: 
    NM_032160.2  

    Unigene Cluster for DSEL:

    Dermatan sulfate epimerase-like
    Hs.124673  [show with all ESTs]
    Unigene Representative Sequence: AF480435
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000310045(uc002lke.1)

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    hsa-miR-579 hsa-miR-3678-3p hsa-miR-3152-3p hsa-miR-3607-3p hsa-miR-631 hsa-miR-15a hsa-miR-605 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmid: DSEL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DSEL (see all 4)
    OriGene shRNA RFP: DSEL
    OriGene siRNA: DSEL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DSEL
    Clone
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    Primer
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    Additional cDNA sequence: 

    AF480435.1 AK021539.1 AK021849.1 AK023067.1 BC062557.1 BC117325.1 

    2 DOTS entries:

    DT.40211427  DT.121097854 

    24/44 AceView cDNA sequences (see all 44):

    CF140658 AW015616 AW450489 AI791264 BC062557 BU956522 C01922 AA374532 
    AW139834 CD723635 AI088531 AI139422 CK724875 BE139460 CD519984 BM546309 
    BP348589 BX114873 AI401481 BP337335 C03813 AK023067 AF480435 AI168185 

    GeneLoc Exon Structure


    Expression
    for DSEL gene

    (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

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

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

    DSEL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DSEL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DSEL

    SOURCE GeneReport for Unigene cluster: Hs.124673

    UniProtKB/Swiss-Prot: DSEL_HUMAN, Q8IZU8
    Tissue specificity: Expressed in different brain areas as well as in multiple other peripheral tissues

        SABiosciences Custom PCR Arrays for DSEL
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSEL

    Orthologs
    for DSEL gene

    (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 DSEL gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DSEL1 dermatan sulfate epimerase-like 76.49(n)
    78.05(a)    		   421028  XM_419114.2  XP_419114.2 
    lizard
    (Anolis carolinensis)    		 Reptilia DSEL6
    		 --
    		 78(a)
    		 1 ↔ 1
    		 4(45808460-45812098)
    zebrafish
    (Danio rerio)    		 Actinopterygii dsel1 dermatan sulfate epimerase-like 62.98(n)
    61.54(a)    		   568099  XM_691410.2  XP_696502.2 


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

    Paralogs
    for DSEL gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DSEL gene
    DSE2  
    1 SIMAP similar gene for DSEL using alignment to 1 protein entry:     DSEL_HUMAN:
    DSE

    DSEL for paralogs           About GeneDecksing



    Genomic Variants
    for DSEL gene

    (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

    10/257 NCBI SNPs in DSEL are shown (see all 257)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1874773771,2
    		--65173375(+) AGCGAA/GACTCC 1 -- ds50010--------
    rs1496624591,2
    		--65173496(+) TTTTAC/GTGATA 1 -- ds50010--------
    rs749862611,2
    		F,--65173666(+) AAGGAC/ACAAGT 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1920335661,2
    		--65173874(+) CATAGC/GTCTGA 1 -- ut310--------
    rs115527101,2
    		C,F,H--65173941(-) TTTTTC/TCTTCA 1 -- ut314Minor allele frequency- T:0.01NS NA 450
    rs1851526631,2
    		--65173951(+) ACGACA/GACGAA 1 -- ut310--------
    rs1458861981,2
    		--65173954(+) ACGACA/GAACAA 1 -- ut310--------
    rs1896790991,2
    		--65174111(+) TTGTTG/TGAAGT 1 -- ut310--------
    rs1401859351,2
    		--65174218(+) CAGATA/GTATCA 1 -- ut310--------
    rs116592861,2
    		H--65174370(+) caccaC/Ggtcaa 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DSEL (65173819 - 65184217 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DSEL: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for DSEL

    Disorders / Diseases
    for DSEL gene

    (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
    DSEL for disorders           About GeneDecksing

    OMIM gene information: 611125    OMIM disorders: --

    7 diseases for DSEL:    About MalaCards
    congenital diaphragmatic hernia    major depressive disorder    hernia    bipolar disorder
    microphthalmia    hepatocellular carcinoma    carcinoma

    Human Genome Epidemiology (HuGE) Navigator: DSEL (2 documents)

    Export disorders for DSEL gene to outside databases

    Publications
    for DSEL gene

    (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 DSEL gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with DSEL)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5- epimerase is identical to SART2. (PubMed id 16505484)1, 3 Maccarana M.... Malmstroem A. (2006)
    2. 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)
    3. A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder. (PubMed id 12556911)1, 2 Goossens D.... Del-Favero J. (2003)
    4. A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)
    5. A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect. (PubMed id 20358601)1 Zayed H....Slavotinek A.M. (2010)
    6. Genome-wide association study of recurrent early-onse t major depressive disorder. (PubMed id 20125088)1 Shi J....Levinson D.F. (2010)
    7. A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545)1 Need A.C....Goldstein D.B. (2009)
    8. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    9. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

    External Searches for DSEL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DSEL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92126 HGNC: 18144 AceView: C18orf4 Ensembl:ENSG00000171451 euGenes: HUgn92126
    ECgene: DSEL H-InvDB: DSEL

    Other Databases showing DSEL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DSEL gene

    (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 DSEL Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DSEL gene

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

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



    Products
    for DSEL gene

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    About This Section

     
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