PHF1 Gene: PHD Finger Protein 1
A chromatin-associated factor involved in transcriptional regulation and linked to endometrial stromal sarcoma and other cancers.
Gene Information Card
| Symbol | PHF1 |
|---|---|
| Full Name | PHD Finger Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 5252 ncbi.nlm.nih.gov/gene/5252 |
| Ensembl ID | ENSG00000111837 |
| UniProt ID | O43189 |
| OMIM ID | 602881 |
| HGNC ID | 8919 |
| Aliases | MTF2L2, PCL1, TDRD19C, PHF1b |
Description
PHF1 (PHD Finger Protein 1) encodes a polycomb group (PcG) protein that contains a PHD finger domain and a Tudor domain. It is a component of the Polycomb Repressive Complex 2 (PRC2) and plays a role in histone H3 lysine 27 trimethylation (H3K27me3) and transcriptional repression. PHF1 is also involved in DNA damage response and chromatin remodeling. Gene fusions involving PHF1, particularly with JAZF1 and EP400, are recurrent in endometrial stromal sarcomas.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Endometrial stromal sarcoma | Gene fusions (e.g., JAZF1-PHF1, EP400-PHF1) lead to aberrant PRC2 recruitment and altered H3K27me3 patterns, driving oncogenesis. | Recurrent fusions identified in >50% of low-grade endometrial stromal sarcomas (OMIM #602881; NCBI Gene). |
| Ovarian sex cord-stromal tumors | PHF1 rearrangements (e.g., with EP400) reported in rare cases, suggesting similar PRC2 dysregulation. | Case reports and small cohort studies (COSMIC, ClinVar). |
| Uterine leiomyoma | PHF1 fusions (e.g., with JAZF1) occasionally detected, though less common than in endometrial stromal sarcoma. | Rare findings in genomic profiling studies (COSMIC). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Endometrium | 8.2 | Medium |
| Ovary | 7.1 | Medium |
| Brain | 5.3 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.1 | Cervical cancer cell line |
| K562 | 6.7 | Leukemia cell line |
| HepG2 | 5.4 | Liver cancer cell line |
| A549 | 4.9 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| JAZF1-PHF1 fusion | Gene fusion | Recurrent in endometrial stromal sarcoma | In-frame fusion of JAZF1 (exon 3-4) to PHF1 (exon 2-3); produces chimeric protein with altered PRC2 targeting. |
| EP400-PHF1 fusion | Gene fusion | Rare in endometrial stromal sarcoma | Fusion of EP400 to PHF1; disrupts normal chromatin remodeling. |
| PHF1 missense (p.Arg374Cys) | Missense | Somatic, rare | Located in PHD finger domain; may affect histone binding. |
Mutation functional classification
Loss of Function (LOF)
Not established; PHF1 fusions are gain-of-function in PRC2 recruitment.
Gain of Function (GOF)
JAZF1-PHF1 and EP400-PHF1 fusions enhance PRC2 activity and H3K27me3 deposition, promoting transcriptional repression of tumor suppressor genes.
Dominant Negative (DN)
Not reported for PHF1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa04110: Cell cycle
• hsa05202: Transcriptional misregulation in cancer
• hsa05205: Proteoglycans in cancer
• hsa05200: Pathways in cancer
Protein Summary
PHF1 is a 586-amino acid nuclear protein containing an N-terminal Tudor domain and a C-terminal PHD finger. It is a core component of the Polycomb Repressive Complex 2 (PRC2), where it enhances the methyltransferase activity of EZH2 on histone H3 lysine 27. PHF1 also interacts with other chromatin modifiers and is involved in DNA repair. The protein is ubiquitously expressed with highest levels in testis and endometrium. Pathogenic fusions involving PHF1 result in oncogenic PRC2 dysregulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF19 Knockout HEK293 Cell Line | EDJ-KQ3128 | Human | 26147 | Details Get a Quote |
| PHF13 Knockout HEK293 Cell Line | EDJ-KQ3210 | Human | 148479 | Details Get a Quote |
| PHF1 Knockout HEK293 Cell Line | EDJ-KQ5452 | Human | 5252 | Details Get a Quote |
| PHF14 Knockout HEK293 Cell Line | EDJ-KQ6689 | Human | 9678 | Details Get a Quote |
| PHF11 Knockout HEK293 Cell Line | EDJ-KQ10935 | Human | 51131 | Details Get a Quote |
| PHF10 Knockout HEK293 Cell Line | EDJ-KQ13956 | Human | 55274 | Details Get a Quote |
| PHF12 Knockout HEK293 Cell Line | EDJ-KQ14743 | Human | 57649 | Details Get a Quote |
| PHF19 Knockout HCT 116 Cell Line | EDJ-KQ23112 | Human | 26147 | Details Get a Quote |
| PHF14 Knockout A-549 Cell Line | EDJ-KQ31033 | Human | 9678 | Details Get a Quote |
| PHF14 Knockout HCT 116 Cell Line | EDJ-KQ31034 | Human | 9678 | Details Get a Quote |
| PHF14 Knockout HeLa Cell Line | EDJ-KQ31035 | Human | 9678 | Details Get a Quote |
| PHF13 Knockout HeLa Cell Line | EDJ-KQ23294 | Human | 148479 | Details Get a Quote |
| PHF19 Knockout A-549 Cell Line | EDJ-KQ24493 | Human | 26147 | Details Get a Quote |
| PHF19 Knockout HeLa Cell Line | EDJ-KQ24495 | Human | 26147 | Details Get a Quote |
| PHF13 Knockout A-549 Cell Line | EDJ-KQ24679 | Human | 148479 | Details Get a Quote |
