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    DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 116092, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DNTTIP1provided by HGNC
    Official Full Name
    deoxynucleotidyltransferase terminal interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:16160
    See related
    Ensembl:ENSG00000101457 MIM:611388; AllianceGenome:HGNC:16160
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Tdif1; C20orf167; dJ447F3.4
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 14.1), bone marrow (RPKM 12.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNTTIP1 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45791954..45811418)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47528482..47547915)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44420593..44440057)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44391506-44392438 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:44393372-44394304 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:44394305-44395236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44399706-44400299 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44400300-44400892 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60389 Neighboring gene Sharpr-MPRA regulatory region 12827 Neighboring gene RNA, U6atac small nuclear 38, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44408579-44409079 Neighboring gene WAP four-disulfide core domain 3 Neighboring gene Sharpr-MPRA regulatory region 6194 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12961 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12962 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44447254-44447902 Neighboring gene ubiquitin conjugating enzyme E2 C Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44449199-44449846 Neighboring gene troponin C2, fast skeletal type

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Definition of the transcription factor TdIF1 consensus-binding sequence through genomewide mapping of its binding sites. Koiwai K, et al. Genes Cells, 2015 Mar. PMID 25619743
    2. Critical role of deoxynucleotidyl transferase terminal interacting protein 1 in oral cancer. Sawai Y, et al. Lab Invest, 2018 Aug. PMID 29855544
    3. TdIF1 recognizes a specific DNA sequence through its Helix-Turn-Helix and AT-hook motifs to regulate gene transcription. Kubota T, et al. PLoS One, 2013. PMID 23874396, Free PMC Article
    4. Identification of functional domains in TdIF1 and its inhibitory mechanism for TdT activity. Kubota T, et al. Genes Cells, 2007 Aug. PMID 17663723
    5. TdT interacting factor 1 enhances TdT ubiquitylation through recruitment of BPOZ-2 into nucleus from cytoplasm. Hayano T, et al. Genes Cells, 2009 Dec. PMID 19930467

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNTTIP1 promotes nasopharyngeal carcinoma metastasis via recruiting HDAC1 to DUSP2 promoter and activating ERK signaling pathway.
      Title: DNTTIP1 promotes nasopharyngeal carcinoma metastasis via recruiting HDAC1 to DUSP2 promoter and activating ERK signaling pathway.
    2. TdIF1-LSD1 Axis Regulates Epithelial-Mesenchymal Transition and Metastasis via Histone Demethylation of E-Cadherin Promoter in Lung Cancer.
      Title: TdIF1-LSD1 Axis Regulates Epithelial-Mesenchymal Transition and Metastasis via Histone Demethylation of E-Cadherin Promoter in Lung Cancer.
    3. Overexpressed deoxynucleotidyltransferase terminal interacting protein 1 (DNTTIP1) was observed in oral squamous cell carcinomas (OSCCs) in vitro and in vivo and was correlated positively with tumoral growth.
      Title: Critical role of deoxynucleotidyl transferase terminal interacting protein 1 in oral cancer.
    4. In luciferase assays, TdIF1 can up-regulate transcription activity of the promoters containing the TdIF1-binding sequences, and this effect is mainly through the palindrome 5'-TGCATG-3'.
      Title: Definition of the transcription factor TdIF1 consensus-binding sequence through genomewide mapping of its binding sites.
    5. TdIF1 associates with the RAB20 promoter, and RAB20 gene transcription is reduced in TdIF1-knocked-down cells, suggesting that TdIF1 stimulates RAB20 gene transcription.
      Title: TdIF1 recognizes a specific DNA sequence through its Helix-Turn-Helix and AT-hook motifs to regulate gene transcription.
    6. During cell division, DNTTIP1 is part of the mitotic deacetylase complex MIDAC, which also contains C14ORF43/MIDEAS and HDAC1/HDAC2.
      Title: Chemoproteomics profiling of HDAC inhibitors reveals selective targeting of HDAC complexes.
    7. During cell division, DNTTIP1 forms a complex with C14ORF43/MIDEAS and HDAC1/HDAC2.
      Title: Chemoproteomics profiling of HDAC inhibitors reveals selective targeting of HDAC complexes.
    8. The TdT binding, DNA binding and dimerization regions, and nuclear localization signal (NLS) in TdIF1, were identified.
      Title: Identification of functional domains in TdIF1 and its inhibitory mechanism for TdT activity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		  
    part_of histone deacetylase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    deoxynucleotidyltransferase terminal-interacting protein 1
    Names
    TdT binding protein
    tdT-interacting factor 1
    terminal deoxynucleotidyltransferase-interacting factor 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_052951.3 → NP_443183.1  deoxynucleotidyltransferase terminal-interacting protein 1

      See identical proteins and their annotated locations for NP_443183.1

      Status: VALIDATED

      Source sequence(s)
      AB035676, BG720866
      Consensus CDS
      CCDS13369.1
      UniProtKB/Swiss-Prot
      B2RA18, Q96DE3, Q9BQP2, Q9H147, Q9H148
      UniProtKB/TrEMBL
      H7C1M5
      Related
      ENSP00000361705.3, ENST00000372622.8
      Conserved Domains (1) summary
      pfam18192
      Location:65 → 132
      DNTTIP1_dimer; DNTTIP1 dimerisation domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      45791954..45811418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451823.2 → XP_024307591.1  deoxynucleotidyltransferase terminal-interacting protein 1 isoform X1

      UniProtKB/TrEMBL
      H7C1M5
      Related
      ENSP00000400573.1, ENST00000435014.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47528482..47547915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322922.1 → XP_054178897.1  deoxynucleotidyltransferase terminal-interacting protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H147.2 GenPept UniProtKB/Swiss-Prot:Q9H147

    Gene LinkOut

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