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DNTTIP1 Gene

protein-coding   GIFtS: 50
GCID: GC20P044420

Deoxynucleotidyltransferase, Terminal, Interacting Protein...

(Previous name: chromosome 20 open reading frame 167)
(Previous symbol: C20orf167)
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(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
Deoxynucleotidyltransferase, Terminal, Interacting Protein 11 2     P65) (Isoform 1)1
C20orf1671 2 3     Tdif12
TdT Binding Protein1 2     dJ447F3.42
TdT-Interacting Factor 12 3     Deoxynucleotidyltransferase Terminal-Interacting Protein 12
Terminal Deoxynucleotidyltransferase-Interacting Factor 12 3     TDIF13
Chromosome 20 Open Reading Frame 1671     TdIF13
Novel Protein Similar To Synaptotagmin 1 (SYT11     

External Ids:    HGNC: 161601   Entrez Gene: 1160922   Ensembl: ENSG000001014577   OMIM: 6113885   UniProtKB: Q9H1473   

Export aliases for DNTTIP1 gene to outside databases

Previous GC identifers: GC20P045059 GC20P045106 GC20P045105 GC20P043853 GC20P041162


(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 DNTTIP1 Gene:
DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a
DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001
(PubMed 11473582)).(supplied by OMIM, Mar 2008)

GeneCards Summary for DNTTIP1 Gene:
DNTTIP1 (deoxynucleotidyltransferase, terminal, interacting protein 1) is a protein-coding gene.

UniProtKB/Swiss-Prot: TDIF1_HUMAN, Q9H147
Function: Shown to enhance TdT activity, in vitro




(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_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNTTIP1 gene promoter:
         USF1   AP-1   AML1a   FOXD3   USF2   USF-1:USF-2   CREB   c-Rel   deltaCREB   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNTTIP1 promoter sequence
   Search Chromatin IP Primers for DNTTIP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNTTIP1


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

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

DNTTIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNTTIP1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P044420:  view genomic region     (about GC identifiers)

Start:
44,420,576 bp from pter      End:
44,440,066 bp from pter
Size:
19,491 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: TDIF1_HUMAN, Q9H147 (See protein sequence)
Recommended Name: Deoxynucleotidyltransferase terminal-interacting protein 1  
Size: 329 amino acids; 37013 Da
Subunit: Monomer, homodimer and homotrimer. Interacts with terminal deoxynucleotidyltransferase (TdT)
Secondary accessions: B2RA18 Q96DE3 Q9BQP2 Q9H148

Explore the universe of human proteins at neXtProt for DNTTIP1: NX_Q9H147

Explore proteomics data for DNTTIP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys43, Lys95, Lys134
  • Modification sites at PhosphoSitePlus

  • See DNTTIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_443183.1  
    ENSEMBL proteins: 
     ENSP00000361705   ENSP00000395609   ENSP00000401024   ENSP00000392509   ENSP00000400573  

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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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    1 InterPro protein domain:
     IPR026064 TdIF1

    Graphical View of Domain Structure for InterPro Entry Q9H147

    ProtoNet protein and cluster: Q9H147


    Find genes that share domains with DNTTIP1           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: TDIF1_HUMAN, Q9H147
    Function: Shown to enhance TdT activity, in vitro

    Phenotypes:
         2 GenomeRNAi human phenotypes for DNTTIP1:

     Synthetic lethal with Ras  Synthetic lethal with cisplati 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNTTIP1
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    miRNA
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    miRTarBase miRNAs that target DNTTIP1:
    hsa-mir-760 (MIRT036798)

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    2 qRT-PCR Assays for microRNAs that regulate DNTTIP1:
    hsa-miR-637 hsa-miR-342-5p
    SwitchGear 3'UTR luciferase reporter plasmidDNTTIP1 3' UTR sequence
    Inhib. RNA
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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
    TDIF1_HUMAN, Q9H147: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with DNTTIP1           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DNTTIP1
    Interactions:

        GeneGlobe Interaction Network for DNTTIP1

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

    Selected Interacting proteins for DNTTIP1 (Q9H1473 ENSP000003617054) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABTB1Q969K43, ENSP000002327444I2D: score=1 STRING: ENSP00000232744
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    MDM2Q009873, ENSP000004172814I2D: score=1 STRING: ENSP00000417281
    DNTTP040533, ENSP000003602164I2D: score=1 STRING: ENSP00000360216
    PSMB3P497203I2D: score=5 
    About this table

    (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 DNTTIP1 (TDIF1)



    (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 DNTTIP1 gene: 
    NM_052951.2  

    Unigene Cluster for DNTTIP1:

    Deoxynucleotidyltransferase, terminal, interacting protein 1
    Hs.472852  [show with all ESTs]
    Unigene Representative Sequence: BF972072
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372622(uc002xpk.3) ENST00000449078 ENST00000456939 ENST00000415790
    ENST00000435014 ENST00000467701
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate DNTTIP1:
    hsa-miR-637 hsa-miR-342-5p
    SwitchGear 3'UTR luciferase reporter plasmidDNTTIP1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat DNTTIP1
      QuantiFast Probe-based Assays in human, mouse, rat DNTTIP1

    Additional mRNA sequence: 

    AB035676.1 AK314003.1 BC009535.1 BC024290.1 

    11 DOTS entries:

    DT.215526  DT.100827808  DT.120817595  DT.120817589  DT.101976279  DT.95376343  DT.97864172  DT.120817467 
    DT.91985723  DT.92456182  DT.99930396 

    Selected AceView cDNA sequences (see all 206):

    BM849507 AL449642 CR616271 BM795666 BU619239 NM_052951 BU627507 BF433378 
    BC009535 AW246787 AA399456 BG491990 CA313655 BQ008974 CD366493 AI357433 
    BI258590 BM561987 BM845296 AI423728 CK300440 AL449865 BE881368 BM662960 

    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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    DNTTIP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTTCTATA
    DNTTIP1 Expression
    About this image


    DNTTIP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    DNTTIP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNTTIP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.472852
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    Assay Products:
     

     
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    (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 DNTTIP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnttip11 , 5 deoxynucleotidyltransferase, terminal, interacting more1, 5 88.72(n)1
    96.65(a)1
      2 (85.27 cM)5
    762331  NM_133763.11  NP_598524.11 
     1647459835 
    chicken
    (Gallus gallus)
    Aves DNTTIP11 deoxynucleotidyltransferase, terminal, interacting more 79.6(n)
    82.21(a)
      431225  XM_428778.4  XP_428778.4 
    lizard
    (Anolis carolinensis)
    Reptilia DNTTIP16
    deoxynucleotidyltransferase, terminal, interacting...
    63(a)
    1 ↔ 1
    GL344008.1(4721-27345)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC691662 hypothetical protein MGC69166 76.93(n)    BC059347.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003319191 deoxynucleotidyltransferase terminal-interacting protein more 66.43(n)
    66.91(a)
      100331919  XM_002662552.3  XP_002662598.3 
    worm
    (Caenorhabditis elegans)
    Secernentea saeg-26
    Protein SAEG-2 (saeg-2) mRNA, complete cds
    24(a)
    1 ↔ 1
    III(9240369-9242496) WBGene00011964


    ENSEMBL Gene Tree for DNTTIP1 (if available)
    TreeFam Gene Tree for DNTTIP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DNTTIP1 gene
    1 SIMAP similar gene for DNTTIP1 using alignment to 5 protein entries:     TDIF1_HUMAN (see all proteins):
    p65

    Find genes that share paralogs with DNTTIP1           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 DNTTIP1 (see all 394)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1398346691,2
    C,F--44422600(+) GAGCTG/ATCCTG 2 /I /V mis11Minor allele frequency- A:0.00NA 4552
    rs354921261,2
    C,F--44422626(-) TGGATC/TTCCTC 2 E syn15Minor allele frequency- T:0.02NA WA CSA 4746
    rs60325451,2
    C,F,A,H--44422705(+) GAGGAT/GCCCAG 1 -- int122Minor allele frequency- G:0.49NS EA NA CSA WA 2340
    rs1135626881,2
    C--44422833(+) CCCAGG/ACTGGA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs762232181,2
    C,F--44422910(+) AGCCTC/TCCTAG 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1124416431,2
    C,F--44422960(+) TTTTTG/ATATTT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1450147921,2
    --44422976(+) AGAGAC/TGGGGT 1 -- int10--------
    rs733064581,2
    C,F--44423087(+) GGTCAG/ATTTTC 1 -- int14Minor allele frequency- A:0.11WA EA 242
    rs1484277421,2
    --44423147(+) ATACC-/TTTTTT 1 -- int10--------
    rs341001611,2
    C--44423154(+) TTTTTA/TTTAAA 1 -- int12Minor allele frequency- T:0.25NA 4

    HapMap Linkage Disequilibrium report for DNTTIP1 (44420576 - 44440066 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DNTTIP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv273747CNV Insertion20981092
    esv270391CNV Insertion20981092
    nsv833990CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 611388    OMIM disorders: --


    Find genes that share disorders with DNTTIP1           About GenesLikeMe

    Genetic Association Database (GAD): DNTTIP1

    Export disorders for DNTTIP1 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 DNTTIP1 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with DNTTIP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Terminal deoxynucleotidyltransferase directly interacts with a novel nuclear protein that is homologous to p65. (PubMed id 11473582)1, 2, 3 Yamashita N.... Koiwai O. (Genes Cells 2001)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    3. 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)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    5. Identification of functional domains in TdIF1 and its inhibitory mechanism for TdT activity. (PubMed id 17663723)1, 9 Kubota T....Koiwai O. (amp 2007)
    6. TdT interacting factor 1 enhances TdT ubiquitylation through recruitment of BPOZ-2 into nucleus from cytoplasm. (PubMed id 19930467)1, 9 Hayano T....Koiwai O. (amp 2009)
    7. SH3RF2 functions as an oncogene by mediating PAK4 protein stability. (PubMed id 24130170)1 Kim T.W....Park K.C. (Carcinogenesis 2014)
    8. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    9. The functional interactome landscape of the human histone deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (Mol. Syst. Biol. 2013)
    10. Chemoproteomics profiling of HDAC inhibitors reveals selective targeting of HDAC complexes. (PubMed id 21258344)1 Bantscheff M....Drewes G. (Nat. Biotechnol. 2011)

    (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: 116092 HGNC: 16160 AceView: DNTTIP1 Ensembl:ENSG00000101457 euGenes: HUgn116092
    ECgene: DNTTIP1 H-InvDB: DNTTIP1

    (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 DNTTIP1 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 DNTTIP1 gene:
    Search GeneIP for patents involving DNTTIP1

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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