Entry - *611388 - DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL, INTERACTING PROTEIN 1; DNTTIP1 - OMIM
 
* 611388

DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL, INTERACTING PROTEIN 1; DNTTIP1


Alternative titles; symbols

TDT-INTERACTING FACTOR; TDIF1
CHROMOSOME 20 OPEN READING FRAME 167; C20ORF167


HGNC Approved Gene Symbol: DNTTIP1

Cytogenetic location: 20q13.12   Genomic coordinates (GRCh38) : 20:45,791,954-45,811,418 (from NCBI)


TEXT

Description

DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001).


Cloning and Expression

Using yeast 2-hybrid analysis to screen a human thymus cDNA library with full-length TDT as bait, Yamashita et al. (2001) cloned DNTTIP1, which they called TDIF1. The deduced 329-amino acid protein has a calculated molecular mass of 37 kD and shares 96.4% homology with the mouse homolog. DNTTIP1 shares homology with p65 (RELA; 164014) over the C-terminal region and with HMGI-C (HMGA2; 600698) over the HMG-I and HMG-Y DNA-binding domains (AT hooks). Immunofluorescence studies localized DNTTIP1 to the nucleus, consistent with the presence of an N-terminal nuclear localization signal.


Gene Function

Using GST pull-down, immunoprecipitation, and deletion mutant experiments, Yamashita et al. (2001) showed that DNTTIP1 binds to the C-terminal region of TDT. Yeast 2-hybrid analysis and gel filtration studies showed that DNTTIP1 also binds to itself to form dimers. Gel filtration experiments suggested that DNTTIP1 and TDT form a 232-kD protein complex. An in vitro activity assay showed that DNTTIP1 enhanced TDT activity in the presence of activated DNA oligo(dT)16 or oligo(dA)12-18 primers, but had no effect with oligo(dC)10 or oligo(dG)12-18 primers. Using a DNA cellulose column, Yamashita et al. (2001) showed that the N-terminal AT hook-containing region of DNTTIP1 mediates DNTTIP1-DNA binding.


Gene Structure

Yamashita et al. (2001) determined that the DNTTIP1 gene contains 13 exons.


Mapping

By genomic sequence analysis, Yamashita et al. (2001) mapped the DNTTIP1 gene to chromosome 20q12-q13.


REFERENCES

  1. Yamashita, N., Shimazaki, N., Ibe, S., Kaneko, R., Tanabe, A., Toyomoto, T., Fujita, K., Hasegawa, T., Toji, S., Tamai, K., Yamamoto, H., Koiwai, O. Terminal deoxynucleotidyltransferase directly interacts with a novel nuclear protein that is homologous to p65. Genes Cells 6: 641-652, 2001. [PubMed: 11473582, related citations] [Full Text]


Creation Date:
Dorothy S. Reilly : 8/29/2007
Edit History:
carol : 08/29/2007

* 611388

DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL, INTERACTING PROTEIN 1; DNTTIP1


Alternative titles; symbols

TDT-INTERACTING FACTOR; TDIF1
CHROMOSOME 20 OPEN READING FRAME 167; C20ORF167


HGNC Approved Gene Symbol: DNTTIP1

Cytogenetic location: 20q13.12   Genomic coordinates (GRCh38) : 20:45,791,954-45,811,418 (from NCBI)


TEXT

Description

DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001).


Cloning and Expression

Using yeast 2-hybrid analysis to screen a human thymus cDNA library with full-length TDT as bait, Yamashita et al. (2001) cloned DNTTIP1, which they called TDIF1. The deduced 329-amino acid protein has a calculated molecular mass of 37 kD and shares 96.4% homology with the mouse homolog. DNTTIP1 shares homology with p65 (RELA; 164014) over the C-terminal region and with HMGI-C (HMGA2; 600698) over the HMG-I and HMG-Y DNA-binding domains (AT hooks). Immunofluorescence studies localized DNTTIP1 to the nucleus, consistent with the presence of an N-terminal nuclear localization signal.


Gene Function

Using GST pull-down, immunoprecipitation, and deletion mutant experiments, Yamashita et al. (2001) showed that DNTTIP1 binds to the C-terminal region of TDT. Yeast 2-hybrid analysis and gel filtration studies showed that DNTTIP1 also binds to itself to form dimers. Gel filtration experiments suggested that DNTTIP1 and TDT form a 232-kD protein complex. An in vitro activity assay showed that DNTTIP1 enhanced TDT activity in the presence of activated DNA oligo(dT)16 or oligo(dA)12-18 primers, but had no effect with oligo(dC)10 or oligo(dG)12-18 primers. Using a DNA cellulose column, Yamashita et al. (2001) showed that the N-terminal AT hook-containing region of DNTTIP1 mediates DNTTIP1-DNA binding.


Gene Structure

Yamashita et al. (2001) determined that the DNTTIP1 gene contains 13 exons.


Mapping

By genomic sequence analysis, Yamashita et al. (2001) mapped the DNTTIP1 gene to chromosome 20q12-q13.


REFERENCES

  1. Yamashita, N., Shimazaki, N., Ibe, S., Kaneko, R., Tanabe, A., Toyomoto, T., Fujita, K., Hasegawa, T., Toji, S., Tamai, K., Yamamoto, H., Koiwai, O. Terminal deoxynucleotidyltransferase directly interacts with a novel nuclear protein that is homologous to p65. Genes Cells 6: 641-652, 2001. [PubMed: 11473582] [Full Text: https://doi.org/10.1046/j.1365-2443.2001.00449.x]


Creation Date:
Dorothy S. Reilly : 8/29/2007

Edit History:
carol : 08/29/2007