PAGR1 (PAXIP1 Associated Glutamate Rich Protein 1)
Transcriptional co-regulator involved in chromatin remodeling and DNA repair
Gene Information Card
| Symbol | PAGR1 |
|---|---|
| Full Name | PAXIP1 Associated Glutamate Rich Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 79415 ncbi.nlm.nih.gov/gene/79415 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9BTK6 |
| OMIM ID | 617054 |
| HGNC ID | 28749 |
| Aliases | C16orf53, FLJ20105, PA1, PTIP-associated 1 |
Description
PAGR1 (PAXIP1 Associated Glutamate Rich Protein 1) encodes a protein that interacts with PAXIP1 (PTIP) to form a complex involved in transcriptional regulation, chromatin remodeling, and DNA damage response. The protein contains a glutamate-rich region and is thought to modulate histone methylation and gene expression. PAGR1 is widely expressed and has been implicated in cellular proliferation and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PAGR1 overexpression may promote cell proliferation and invasion through transcriptional co-activation | COSMIC; PMID: 25691885 |
| Colorectal cancer | Altered expression associated with tumor progression and poor prognosis | COSMIC; PMID: 27323851 |
| Lung cancer | Potential role in oncogenic signaling via PAXIP1 interaction | COSMIC; PMID: 28431213 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 8.9 | Medium |
| Bone marrow | 6.3 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney; high expression |
| HeLa | 12.8 | Cervical carcinoma; moderate expression |
| MCF7 | 11.2 | Breast cancer; moderate expression |
| A549 | 9.7 | Lung carcinoma; moderate expression |
| K562 | 7.4 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1024G>A (p.Glu342Lys) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1345_1346insA (p.Thr449AsnfsTer5) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr449AsnfsTer5) are predicted to truncate the protein and disrupt PAXIP1 interaction, leading to loss of co-regulatory function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PAGR1.
Dominant Negative (DN)
No evidence for dominant-negative effects in PAGR1.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
| • regulation of transcription, DNA-templated (GO:0006355) | • cellular response to DNA damage stimulus (GO:0006974) |
| • regulation of histone modification (GO:0035065) |
Pathways
• PAXIP1-PAGR1 complex in DNA damage response
• Transcriptional regulation by MLL complex
Protein Summary
The PAGR1 protein (UniProt Q9BTK6) is 449 amino acids long and contains a glutamate-rich region. It localizes to the nucleus and forms a stable complex with PAXIP1 (PTIP). This complex is involved in the regulation of histone H3 lysine 4 (H3K4) methylation and transcription of target genes. PAGR1 also participates in the DNA damage response by facilitating the recruitment of repair factors to sites of double-strand breaks.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAGR1 Knockout HEK293 Cell Line | EDJ-KQ12183 | Human | 79447 | Details Get a Quote |
| PAGR1 Knockout HeLa Cell Line | EDJ-KQ39659 | Human | 79447 | Details Get a Quote |
| PAGR1 Knockout A-549 Cell Line | EDJ-KQ40901 | Human | 79447 | Details Get a Quote |
| PAGR1 Knockout HCT 116 Cell Line | EDJ-KQ40902 | Human | 79447 | Details Get a Quote |
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