DDI1 (DNA Damage Inducible 1) Gene
A comprehensive overview of the DDI1 gene, including its structure, function, expression, and associated diseases.
Gene Information Card
| Symbol | DDI1 |
|---|---|
| Full Name | DNA damage inducible 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 414301 ncbi.nlm.nih.gov/gene/414301 |
| Ensembl ID | ENSG00000188976 |
| UniProt ID | Q8WY36 |
| OMIM ID | 619150 |
| HGNC ID | 27269 |
| Aliases | DNA damage-inducible protein 1, DDI1 homolog (S. cerevisiae) |
Description
DDI1 (DNA damage inducible 1) is a protein-coding gene that encodes a conserved protein involved in the DNA damage response and ubiquitin-dependent proteolysis. The DDI1 protein contains an N-terminal ubiquitin-like (UBL) domain and a C-terminal retroviral protease-like (RVP) domain, suggesting a role in protein degradation pathways. It is implicated in cell cycle regulation, DNA repair, and maintenance of genomic stability. DDI1 is expressed in various tissues and is upregulated in response to genotoxic stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | DDI1 may be involved in tumorigenesis through its role in DNA damage response and protein degradation; overexpression observed in some cancers. | NCBI Gene, COSMIC |
| Neurodevelopmental disorders | Potential link due to DDI1's role in protein homeostasis and DNA repair; limited evidence. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells; moderate expression |
| HeLa | 10.2 | Cervical cancer cells; moderate expression |
| K562 | 8.5 | Leukemia cells; low expression |
| MCF7 | 6.3 | Breast cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of function; uncertain significance |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown effect; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DDI1 are rare and may impair DNA damage response and protein degradation, potentially contributing to genomic instability.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for DDI1.
Dominant Negative (DN)
No dominant-negative mutations have been reported for DDI1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006974 (GO:0006974) | • GO:0006511 (GO:0006511) |
| • GO:0005634 (GO:0005634) | • GO:0005829 (GO:0005829) |
| • GO:0003674 (GO:0003674) |
Pathways
• DNA damage response
• Ubiquitin-proteasome pathway
Protein Summary
The DDI1 protein is a 369-amino acid protein with a molecular weight of approximately 41 kDa. It contains an N-terminal ubiquitin-like (UBL) domain and a C-terminal retroviral protease-like (RVP) domain. The UBL domain mediates interactions with the proteasome and ubiquitin receptors, while the RVP domain may have protease activity. DDI1 is involved in the degradation of proteins via the ubiquitin-proteasome system and plays a role in the cellular response to DNA damage. It is localized to the nucleus and cytosol.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDI1 Knockout HEK293 Cell Line | EDJ-KQ13110 | Human | 414301 | Details Get a Quote |
| DDI1 Knockout HeLa Cell Line | EDJ-KQ60362 | Human | 414301 | Details Get a Quote |
| DDI1 Knockout A-549 Cell Line | EDJ-KQ68829 | Human | 414301 | Details Get a Quote |
| DDI1 Knockout HCT 116 Cell Line | EDJ-KQ77193 | Human | 414301 | Details Get a Quote |
