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Aliases for DNTTIP1 Gene

Aliases for DNTTIP1 Gene

  • Deoxynucleotidyltransferase Terminal Interacting Protein 1 2 3 5
  • Terminal Deoxynucleotidyltransferase-Interacting Factor 1 3 4
  • TdT-Interacting Factor 1 3 4
  • TdT Binding Protein 2 3
  • C20orf167 3 4
  • Tdif1 3 4
  • Novel Protein Similar To Synaptotagmin 1 (SYT1, P65) (Isoform 1) 2
  • Deoxynucleotidyltransferase, Terminal, Interacting Protein 1 2
  • Deoxynucleotidyltransferase Terminal-Interacting Protein 1 3
  • Chromosome 20 Open Reading Frame 167 2
  • DJ447F3.4 3

External Ids for DNTTIP1 Gene

Previous HGNC Symbols for DNTTIP1 Gene

  • C20orf167

Previous GeneCards Identifiers for DNTTIP1 Gene

  • GC20P045059
  • GC20P045106
  • GC20P045105
  • GC20P043853
  • GC20P044420
  • GC20P041162

Summaries for DNTTIP1 Gene

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. GO annotations related to this gene include protein homodimerization activity and nucleosome binding.

UniProtKB/Swiss-Prot for DNTTIP1 Gene

  • Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro) (PubMed:11473582). Also acts as a transcriptional regulator, binding to the consensus sequence 5-GNTGCATG-3 following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNTTIP1 Gene

Genomics for DNTTIP1 Gene

Regulatory Elements for DNTTIP1 Gene

Enhancers for DNTTIP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G045765 1.1 ENCODE 15.5 -25.5 -25534 2.6 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 FOS PAF1 SP5 WFDC3 WFDC13 DNTTIP1 HNRNPA1P3 EPPIN EPPIN-WFDC6 ENSG00000232135 HSPD1P21 WFDC6 SPINT3
GH20G045770 1.5 Ensembl ENCODE dbSUPER 11.2 -20.6 -20600 1.1 FOXA2 MLX ARID4B SLC30A9 GATA2 ZNF143 DEK MXD4 REST MIER2 WFDC3 WFDC13 SPINT5P HNRNPA1P3 DNTTIP1 EPPIN EPPIN-WFDC6 ENSG00000232135 HSPD1P21 WFDC6
GH20G045817 1.4 Ensembl ENCODE dbSUPER 11.3 +26.0 25985 1.5 HDAC1 KLF17 ZBTB40 ZEB1 TCF12 ZNF121 GLIS2 ZNF366 SCRT2 RCOR1 WFDC3 PLTP NCOA5 ACOT8 ZSWIM3 DNTTIP1 ZSWIM1 CTSA NEURL2 SPATA25
GH20G045917 1.5 Ensembl ENCODE dbSUPER 10.5 +127.3 127291 4.0 FOXA2 ARNT ARID4B FEZF1 ZNF48 GATA2 FOS MIER2 KAT8 MIER3 WFDC3 CTSA NEURL2 SPATA25 PLTP ZSWIM3 ACOT8 TNNC2 SNX21 UBE2C
GH20G045924 1.5 Ensembl ENCODE dbSUPER 10.5 +133.2 133199 2.2 FOXA2 PKNOX1 ZNF133 ARID4B FEZF1 TCF12 ZNF766 GATA2 FOS JUNB WFDC3 PLTP NEURL2 CTSA SPATA25 TNNC2 SNX21 ZSWIM3 ACOT8 UBE2C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNTTIP1 on UCSC Golden Path with GeneCards custom track

Promoters for DNTTIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000137690 163 1401 HDGF FOXA2 MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1

Genomic Location for DNTTIP1 Gene

Chromosome:
20
Start:
45,791,937 bp from pter
End:
45,811,427 bp from pter
Size:
19,491 bases
Orientation:
Plus strand

Genomic View for DNTTIP1 Gene

Genes around DNTTIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNTTIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNTTIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNTTIP1 Gene

Proteins for DNTTIP1 Gene

  • Protein details for DNTTIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H147-TDIF1_HUMAN
    Recommended name:
    Deoxynucleotidyltransferase terminal-interacting protein 1
    Protein Accession:
    Q9H147
    Secondary Accessions:
    • B2RA18
    • Q96DE3
    • Q9BQP2
    • Q9H148

    Protein attributes for DNTTIP1 Gene

    Size:
    329 amino acids
    Molecular mass:
    37013 Da
    Quaternary structure:
    • Monomer and homodimer (PubMed:11473582, PubMed:25653165). A minor proportion may form homotrimers (PubMed:11473582). Interacts with ZNF541 (PubMed:21573134). Interacts with the terminal deoxynucleotidyltransferase DNTT (PubMed:11473582, PubMed:16371131). Interacts with TRERF1 (PubMed:16371131, PubMed:21573134). Identified in a histone deacetylase complex that contains DNTTIP1, HDAC1 and ELMSAN1; this complex assembles into a tetramer that contains four copies of each protein chain (PubMed:25653165). Component of a histone deacetylase complex containing DNTTIP1, ZNF541, HDAC1 and HDAC2 (PubMed:21573134).

    Three dimensional structures from OCA and Proteopedia for DNTTIP1 Gene

neXtProt entry for DNTTIP1 Gene

Post-translational modifications for DNTTIP1 Gene

  • Ubiquitination at Lys43, isoforms=95, and Lys134
  • Modification sites at PhosphoSitePlus

Other Protein References for DNTTIP1 Gene

Antibody Products

  • Abcam antibodies for DNTTIP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for DNTTIP1

No data available for DME Specific Peptides for DNTTIP1 Gene

Domains & Families for DNTTIP1 Gene

Protein Domains for DNTTIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNTTIP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H147

UniProtKB/Swiss-Prot:

TDIF1_HUMAN :
  • The N-terminal domain mediates dimerization.
Domain:
  • The N-terminal domain mediates dimerization.
  • The C-terminal domain mediates interaction with DNA and nucleosomes (PubMed:11473582, PubMed:25653165). It contains a HTH motif that mediates recognition of the consensus sequence (PubMed:23874396).
genes like me logo Genes that share domains with DNTTIP1: view

No data available for Gene Families for DNTTIP1 Gene

Function for DNTTIP1 Gene

Molecular function for DNTTIP1 Gene

UniProtKB/Swiss-Prot Function:
Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro) (PubMed:11473582). Also acts as a transcriptional regulator, binding to the consensus sequence 5-GNTGCATG-3 following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA.

Gene Ontology (GO) - Molecular Function for DNTTIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA,IEA 11473582
GO:0005515 protein binding IPI 11473582
GO:0031491 nucleosome binding IDA 25653165
GO:0042803 protein homodimerization activity IDA 11473582
genes like me logo Genes that share ontologies with DNTTIP1: view

Phenotypes for DNTTIP1 Gene

GenomeRNAi human phenotypes for DNTTIP1:
genes like me logo Genes that share phenotypes with DNTTIP1: view

Animal Model Products

CRISPR Products

miRNA for DNTTIP1 Gene

miRTarBase miRNAs that target DNTTIP1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNTTIP1 Gene

Localization for DNTTIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNTTIP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNTTIP1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for DNTTIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 histone deacetylase complex IDA 25653165
GO:0005634 nucleus IDA 11473582
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with DNTTIP1: view

Pathways & Interactions for DNTTIP1 Gene

SuperPathways for DNTTIP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNTTIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with DNTTIP1: view

No data available for Pathways by source and SIGNOR curated interactions for DNTTIP1 Gene

Drugs & Compounds for DNTTIP1 Gene

No Compound Related Data Available

Transcripts for DNTTIP1 Gene

Unigene Clusters for DNTTIP1 Gene

Deoxynucleotidyltransferase, terminal, interacting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNTTIP1 Gene

No ASD Table

Relevant External Links for DNTTIP1 Gene

GeneLoc Exon Structure for
DNTTIP1
ECgene alternative splicing isoforms for
DNTTIP1

Expression for DNTTIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNTTIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNTTIP1 Gene

This gene is overexpressed in Whole Blood (x5.6).

Protein differential expression in normal tissues from HIPED for DNTTIP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.4), Lung (13.6), and Blymphocyte (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DNTTIP1 Gene



Protein tissue co-expression partners for DNTTIP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNTTIP1 Gene:

DNTTIP1

SOURCE GeneReport for Unigene cluster for DNTTIP1 Gene:

Hs.472852

Evidence on tissue expression from TISSUES for DNTTIP1 Gene

  • Lung(4.4)
  • Muscle(4.4)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with DNTTIP1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNTTIP1 Gene

Orthologs for DNTTIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNTTIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNTTIP1 34 35
  • 99.77 (n)
oppossum
(Monodelphis domestica)
Mammalia DNTTIP1 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNTTIP1 34 35
  • 92.96 (n)
cow
(Bos Taurus)
Mammalia DNTTIP1 34 35
  • 92.5 (n)
mouse
(Mus musculus)
Mammalia Dnttip1 34 16 35
  • 88.72 (n)
rat
(Rattus norvegicus)
Mammalia Dnttip1 34
  • 88.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNTTIP1 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNTTIP1 34 35
  • 79.6 (n)
lizard
(Anolis carolinensis)
Reptilia DNTTIP1 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnttip1 34
  • 72.08 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69166 34
zebrafish
(Danio rerio)
Actinopterygii LOC100331919 34
  • 66.43 (n)
worm
(Caenorhabditis elegans)
Secernentea saeg-2 35
  • 24 (a)
OneToOne
Species where no ortholog for DNTTIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNTTIP1 Gene

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

Paralogs for DNTTIP1 Gene

(1) SIMAP similar genes for DNTTIP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with DNTTIP1: view

No data available for Paralogs for DNTTIP1 Gene

Variants for DNTTIP1 Gene

Sequence variations from dbSNP and Humsavar for DNTTIP1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000000152 -- 45,802,650(+) GACTC(A/G)TCTTG intron-variant
rs1000395850 -- 45,794,033(+) CACAG(G/T)ATAAA intron-variant
rs1000676470 -- 45,792,716(+) TGCAG(C/T)GGAGG upstream-variant-2KB, reference, missense
rs1000728558 -- 45,792,447(+) CTTCC(C/T)TTCCT intron-variant, upstream-variant-2KB
rs1000846401 -- 45,795,119(+) TTACA(C/T)CTCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNTTIP1 Gene

Variant ID Type Subtype PubMed ID
esv3306114 CNV mobile element insertion 20981092
esv3309475 CNV mobile element insertion 20981092
esv3353111 CNV insertion 20981092
esv3427223 CNV insertion 20981092
nsv586132 CNV loss 21841781
nsv833990 CNV loss 17160897

Variation tolerance for DNTTIP1 Gene

Residual Variation Intolerance Score: 33.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNTTIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNTTIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNTTIP1 Gene

Disorders for DNTTIP1 Gene

Relevant External Links for DNTTIP1

Genetic Association Database (GAD)
DNTTIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNTTIP1

No disorders were found for DNTTIP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DNTTIP1 Gene

Publications for DNTTIP1 Gene

  1. Terminal deoxynucleotidyltransferase directly interacts with a novel nuclear protein that is homologous to p65. (PMID: 11473582) Yamashita N. … Koiwai O. (Genes Cells 2001) 2 3 4 64
  2. Structural and functional characterization of a cell cycle associated HDAC1/2 complex reveals the structural basis for complex assembly and nucleosome targeting. (PMID: 25653165) Itoh T. … Schwabe J.W. (Nucleic Acids Res. 2015) 3 4 64
  3. TdIF1 recognizes a specific DNA sequence through its Helix-Turn-Helix and AT-hook motifs to regulate gene transcription. (PMID: 23874396) Kubota T. … Koiwai K. (PLoS ONE 2013) 3 4 64
  4. TdT interacting factor 1 enhances TdT ubiquitylation through recruitment of BPOZ-2 into nucleus from cytoplasm. (PMID: 19930467) Hayano T. … Koiwai O. (Genes Cells 2009) 3 22 64
  5. Identification of functional domains in TdIF1 and its inhibitory mechanism for TdT activity. (PMID: 17663723) Kubota T. … Koiwai O. (Genes Cells 2007) 3 22 64

Products for DNTTIP1 Gene

Sources for DNTTIP1 Gene

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