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

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)
About This Section

Aliases
D-Dopachrome Tautomerase-Like1 2
D-Dopachrome Decarboxylase-Like Protein1 2
D-Dopachrome Tautomerase-Like Protein2 3
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DDTL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DDTL_HUMAN, A6NHG4 (See protein sequence)
Recommended Name: D-dopachrome decarboxylase-like protein  
Size: 134 amino acids; 14195 Da
Subcellular location: Cytoplasm (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6NHG4

  • DDTL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DDTL Protein Expression
    REFSEQ proteins: NP_001077862.1  
    ENSEMBL proteins: 
     ENSP00000215770  

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

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

    DDTL for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

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


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

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

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    Browse Tocris compounds for DDTL

    Search CenterWatch for drugs/clinical trials and news about 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,
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    About This Section

    REFSEQ mRNAs for DDTL gene: 
    NM_001084393.1  

    Unigene Cluster for DDTL:

    D-dopachrome tautomerase-like
    Hs.744172  [show with all ESTs]
    Unigene Representative Sequence: AK123996
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000215770(uc011aji.2 uc002zyy.4)
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK123996.1 AK296110.1 AK296189.1 AK298326.1 

    18 DOTS entries:

    DT.91973351  DT.97855827  DT.95148181  DT.100793425  DT.91746510  DT.100750896  DT.100750927  DT.449123 
    DT.100679657  DT.100793424  DT.40235163  DT.100793421  DT.100793422  DT.120669463  DT.120669486  DT.92456387 
    DT.95091335  DT.95308228 

    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

    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


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

    SOURCE GeneReport for Unigene cluster: Hs.744172
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DDTL gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DDT6
    D-dopachrome decarboxylase
    54(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)
    worm
    (Caenorhabditis elegans)
    Secernentea mif-26
    MIF-like protein mif-2
    25(a)
    1 → many
    V(11976774-11978404)
            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)
    About This Section
    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) 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

    10/70 SNPs in DDTL are shown (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) 10/42 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.)
    About This Section

    DDTL for disorders           About MalaCards

    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)
    About This Section

    PubMed articles for DDTL gene, integrated from 9 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....O'Brien K.P. (1999)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (1998)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Genome-wide association study identifies loci influenc ing concentrations of liver enzymes in plasma. (PubMed id 22001757)1 Chambers J.C....Kooner J.S. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    10. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 100037417 HGNC: 33446 Ensembl:ENSG00000099974 euGenes: HUgn100037417 ECgene: DDTL
    H-InvDB: DDTL

    (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 DDTL 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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