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

Summary

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

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

45791954..45811418

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

H7C1M5

Related

ENSP00000400573.1, ENST00000435014.1