PAXIP1 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the PAXIP1 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | PAXIP1 |
|---|---|
| Full Name | PAXIP1 (PAX interacting protein 1) |
| Gene Type | protein coding |
| Chromosomal Location | 7q36.2 |
| NCBI Gene ID | 22976 ncbi.nlm.nih.gov/gene/22976 |
| Ensembl ID | ENSG00000157212 |
| UniProt ID | Q6ZW49 |
| OMIM ID | 602507 |
| HGNC ID | 16949 |
| Aliases | PTIP, PAXIP1L, CAGF9 |
Description
PAXIP1 (PAX interacting protein 1) encodes a nuclear protein that contains a BRCT domain and is involved in DNA damage response, transcriptional regulation, and chromatin remodeling. It interacts with PAX (paired box) transcription factors and is essential for embryonic development. PAXIP1 plays a role in homologous recombination repair and is implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect DNA repair and genomic stability, contributing to tumorigenesis. | COSMIC, literature |
| Developmental disorders | Loss-of-function mutations may impair embryonic development, though specific human phenotypes are not well-defined. | OMIM, literature |
| Immunodeficiency | Potential role in immune cell development and function, but direct disease association is limited. | Literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High | nTPM ~ 20-30 |
| Bone marrow | Moderate | nTPM ~ 10-20 |
| Brain | Low to moderate | nTPM ~ 5-10 |
| Liver | Low | nTPM < 5 |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Moderate | Cervical cancer cell line |
| K562 | High | Chronic myeloid leukemia cell line |
| MCF7 | Low | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | Rare | Unknown functional effect |
| c.2345delC (p.Pro782LeufsTer5) | Frameshift | Rare | Predicted loss of function |
| c.3456C>T (p.Arg1152Ter) | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to result in loss of function, potentially impairing DNA repair and transcriptional regulation.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA damage response | • DNA repair |
| • chromatin remodeling | • transcription regulation |
| • protein binding | • BRCT domain |
Pathways
• Homologous recombination repair
• DNA damage response
• Transcriptional regulation by PAX factors
Protein Summary
The PAXIP1 protein (also known as PTIP) is a nuclear protein with a BRCT domain that is critical for DNA damage response and repair. It forms complexes with other proteins to facilitate homologous recombination and transcriptional regulation. PAXIP1 is essential for normal development and its dysregulation is linked to cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAXIP1 Knockout HEK293 Cell Line | EDJ-KQ7068 | Human | 22976 | Details Get a Quote |
| PAXIP1 Knockout A-549 Cell Line | EDJ-KQ33209 | Human | 22976 | Details Get a Quote |
| PAXIP1 Knockout HCT 116 Cell Line | EDJ-KQ33210 | Human | 22976 | Details Get a Quote |
| PAXIP1 Knockout HeLa Cell Line | EDJ-KQ33211 | Human | 22976 | Details Get a Quote |
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