DNTTIP1: Deoxynucleotidyltransferase Terminal Interacting Protein 1
A regulator of terminal deoxynucleotidyltransferase (TdT) activity and chromatin structure
Gene Information Card
| Symbol | DNTTIP1 |
|---|---|
| Full Name | Deoxynucleotidyltransferase Terminal Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 116092 ncbi.nlm.nih.gov/gene/116092 |
| Ensembl ID | ENSG00000101442 |
| UniProt ID | Q9H147 |
| OMIM ID | 610989 |
| HGNC ID | 24878 |
| Aliases | TdIF1, C20orf167, dJ1181N3.1 |
Description
DNTTIP1 encodes a protein that interacts with terminal deoxynucleotidyltransferase (TdT) and modulates its activity. It also functions as a component of the nucleosome remodeling and deacetylase (NuRD) complex, influencing chromatin structure and gene expression. The gene is involved in lymphoid development, DNA repair, and transcriptional regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia (ALL) | DNTTIP1 overexpression may alter TdT activity, contributing to aberrant V(D)J recombination | PMID: 15107837 |
| Colorectal cancer | DNTTIP1 mutations and copy number alterations observed in tumor samples | COSMIC COSMIC: GENE: DNTTIP1 |
| Breast cancer | DNTTIP1 expression changes associated with tumor progression | COSMIC COSMIC: GENE: DNTTIP1 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.9 | Medium |
| Thymus | 7.3 | Low |
| Testis | 6.1 | Low |
| Brain | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HEK 293 (embryonic kidney) | 8.7 | Moderate expression |
| HeLa (cervical carcinoma) | 5.4 | Low expression |
| Hep G2 (liver carcinoma) | 3.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional effect |
| c.457G>A (p.Gly153Ser) | Missense | <0.1% | Unknown functional effect |
| c.1120_1121insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1120_1121insA) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • chromatin remodeling (GO:0006338) |
| • hydrolase activity (GO:0016787) | • chromatin DNA binding (GO:0031490) |
Pathways
• NuRD complex pathway
• V(D)J recombination
• Chromatin remodeling
Protein Summary
DNTTIP1 is a 329-amino acid protein that contains a SAP domain and a coiled-coil region. It binds to terminal deoxynucleotidyltransferase (TdT) and enhances its activity. As part of the NuRD complex, it participates in histone deacetylation and nucleosome remodeling, thereby regulating transcription. The protein is predominantly nuclear and expressed in lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNTTIP1 Knockout HEK293 Cell Line | EDJ-KQ7546 | Human | 116092 | Details Get a Quote |
| DNTTIP1 Knockout A-549 Cell Line | EDJ-KQ31491 | Human | 116092 | Details Get a Quote |
| DNTTIP1 Knockout HCT 116 Cell Line | EDJ-KQ32844 | Human | 116092 | Details Get a Quote |
| DNTTIP1 Knockout HeLa Cell Line | EDJ-KQ32845 | Human | 116092 | Details Get a Quote |
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