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DDTL Gene

protein-coding   GIFtS: 33
GCID: GC22P024309

D-Dopachrome Tautomerase-Like

  Search for DDTL
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
D-Dopachrome Tautomerase-Like1 2
D-Dopachrome Decarboxylase-Like Protein1 2
D-Dopachrome Tautomerase-Like Protein2 3
KB-226F1.22
EC 4.1.1.-3

External Ids:    HGNC: 334461   Entrez Gene: 1000374172   Ensembl: ENSG000000999747   UniProtKB: A6NHG43   

Export aliases for DDTL gene to outside databases

Previous GC identifers: GC22U900384 GC22P022639 GC22P007252


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DDTL Gene:
DDTL (D-dopachrome tautomerase-like) is a protein-coding gene. GO annotations related to this gene include lyase activity. An important paralog of this gene is DDT.

UniProtKB/Swiss-Prot: DDTL_HUMAN, A6NHG4
Function: May have lyase activity (Potential)




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the DDTL gene promoter:
         SREBP-1a   SREBP-1c   NF-kappaB1   SREBP-1b   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DDTL

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


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

Entrez Gene cytogenetic band: 22q11.23   Ensembl cytogenetic band:  22q11.23   HGNC cytogenetic band: 22q11.23

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P024309:  view genomic region     (about GC identifiers)

Start:
24,309,026 bp from pter      End:
24,314,748 bp from pter
Size:
5,723 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, 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: DDTL_HUMAN, A6NHG4 (See protein sequence)
Recommended Name: D-dopachrome decarboxylase-like protein  
Size: 134 amino acids; 14195 Da
Secondary accessions: B4DJJ7

Explore the universe of human proteins at neXtProt for DDTL: NX_A6NHG4

Explore proteomics data for DDTL at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys21
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_001077862.1  
    ENSEMBL proteins: 
     ENSP00000215770  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR014347 Tautomerase/MIF_sf
     IPR001398 Macrophage_inhib_fac
     IPR019829 Macrophage_inhib_fac_CS

    Graphical View of Domain Structure for InterPro Entry A6NHG4

    ProtoNet protein and cluster: A6NHG4

    UniProtKB/Swiss-Prot: DDTL_HUMAN, A6NHG4
    Similarity: Belongs to the MIF family


    DDTL 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: DDTL_HUMAN, A6NHG4
    Function: May have lyase activity (Potential)

         Enzyme Number (IUBMB): EC 4.1.1.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016829lyase activity IEA--
         
    DDTL for ontologies           About GeneDecksing


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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
    DDTL_HUMAN, A6NHG4: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    extracellular1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

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

        Search GeneGlobe Interaction Network for DDTL

    (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
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    Browse Tocris compounds for DDTL



    (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 DDTL gene: 
    NM_001084393.1  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000215770(uc011aji.2 uc002zyy.4)
    miRNA
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    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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    DDTL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAAGTGTAT
    DDTL Expression
    About this image

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

    DDTL Protein Expression
        Custom PCR Arrays for DDTL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDTL

    (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 chordates.

    Orthologs for DDTL gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DDT6
    Gallus gallus D-dopachrome tautomerase (DDT), mRNA...
    55(a)
    1 → many
    15(8122943-8125377)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    45(a)
    1 → many
    GL343417.1(30352-31182)
    zebrafish
    (Danio rerio)
    Actinopterygii ddt6
    D-dopachrome tautomerase
    41(a)
    1 → many
    21(13912129-13914833) ENSDARG00000044751
            Species with no ortholog for DDTL

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDTL gene
    DDT2  
    2 SIMAP similar genes for DDTL using alignment to 1 protein entry:     DDTL_HUMAN:
    DDT    MIF

    DDTL 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 DDTL (see all 70)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2021931711,2
    C--24311224(+) TGTTAC/TACACT 1 -- int10--------
    rs1912135341,2
    --24311356(+) CATTAC/TGCCAA 1 -- int10--------
    rs764695911,2
    C,F--24311461(+) TCTGAG/AAGGGG 1 -- int11Minor allele frequency- A:0.08WA 118
    rs96243641,2
    C,F,A,H--24311474(+) TGTTGG/ACTTAT 1 -- int119Minor allele frequency- A:0.14NS EA NA CSA WA 2329
    rs1444299431,2
    --24311520(+) CCCAAC/TCTTTG 1 -- int10--------
    rs1478322471,2
    C--24311528(+) TTGAGA/GAAACA 1 -- int10--------
    rs1441775821,2
    C--24311588(+) GATTG-/CCCCCT 1 -- int10--------
    rs1829545711,2
    --24311632(+) AGCACA/GCACGA 1 -- int10--------
    rs1499685011,2
    C--24311696(+) ACCATC/TCCACA 1 -- int10--------
    rs1149383491,2
    F--24311732(+) GGGTTG/TGGGAA 1 -- int11Minor allele frequency- T:0.07WA 118

    HapMap Linkage Disequilibrium report for DDTL (24309026 - 24314748 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DDTL (see all 42):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv999560CNV Deletion20482838
    esv2593346CNV Deletion19546169
    nsv436348CNV Deletion17901297
    esv2724066CNV Deletion23290073
    esv2667916CNV Deletion23128226
    esv2724041CNV Deletion23290073
    esv2656800CNV Deletion23128226
    dgv826e199CNV Deletion23128226
    esv2656467CNV Deletion23128226
    nsv471423CNV Duplication19718026

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    DDTL for disorders           About GeneDecksing

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

    Export disorders for DDTL 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 DDTL gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with DDTL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I.... Wright H. (Nature 1999)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Structure and organization of the human theta-class glutathione S-transferase and D-dopachrome tautomerase gene complex. (PubMed id 9729470)1, 3 Coggan M....Board P. (Biochem. J. 1998)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PubMed id 22001757)1 Chambers J.C....Kooner J.S. (Nat. Genet. 2011)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    10. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 100037417 HGNC: 33446 Ensembl:ENSG00000099974 euGenes: HUgn100037417 ECgene: DDTL
    H-InvDB: DDTL

    (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 DDTL 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 DDTL gene:
    Search GeneIP for patents involving DDTL

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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