POLDIP3
DNA Polymerase Delta Interacting Protein 3
Gene Information Card
| Symbol | POLDIP3 |
|---|---|
| Full Name | DNA polymerase delta interacting protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 84271 ncbi.nlm.nih.gov/gene/84271 |
| Ensembl ID | ENSG00000100227 |
| UniProt ID | Q9BYB4 |
| OMIM ID | 611420 |
| HGNC ID | 28923 |
| Aliases | PDIP46, p46, CGI-121, HSPC133 |
Description
POLDIP3 (DNA polymerase delta interacting protein 3) encodes a protein that interacts with the p50 subunit of DNA polymerase delta, playing a role in DNA replication and repair. The protein is also involved in RNA processing and may function as a coactivator of transcription. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 10.1 | Medium expression |
| K562 | 7.4 | Low expression |
| A549 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | 0.001% (gnomAD) | Potential loss of start codon |
| c.100C>T (p.Arg34Trp) | missense | 0.002% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication | • DNA repair |
| • protein binding | • RNA binding |
| • nucleus | • cytoplasm |
Pathways
• DNA replication
• DNA repair
• Transcription regulation
Protein Summary
The POLDIP3 protein (UniProt Q9BYB4) is a 46 kDa nuclear and cytoplasmic protein that interacts with the p50 subunit of DNA polymerase delta. It contains a conserved domain (DUF1766) and is involved in DNA replication, repair, and RNA processing. The protein may also act as a transcriptional coactivator.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLDIP3 Knockout HEK293 Cell Line | EDJ-KQ9251 | Human | 84271 | Details Get a Quote |
| POLDIP3 Knockout A-549 Cell Line | EDJ-KQ37063 | Human | 84271 | Details Get a Quote |
| POLDIP3 Knockout HCT 116 Cell Line | EDJ-KQ37064 | Human | 84271 | Details Get a Quote |
| POLDIP3 Knockout HeLa Cell Line | EDJ-KQ37065 | Human | 84271 | Details Get a Quote |
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