GTF2F1 Gene - General Transcription Factor IIF Subunit 1
Essential component of the RNA polymerase II transcription initiation complex
Gene Information Card
| Symbol | GTF2F1 |
|---|---|
| Full Name | General Transcription Factor IIF Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 2962 ncbi.nlm.nih.gov/gene/2962 |
| Ensembl ID | ENSG00000125651 |
| UniProt ID | P35269 |
| OMIM ID | 189962 |
| HGNC ID | 4652 |
| Aliases | TFIIF, RAP74, BTF4, TF2F1 |
Description
GTF2F1 encodes the alpha subunit of the general transcription factor IIF (TFIIF), a heterodimeric complex essential for RNA polymerase II transcription initiation. TFIIF stabilizes the pre-initiation complex, promotes promoter clearance, and modulates elongation. GTF2F1 interacts with RNA polymerase II and other transcription factors to regulate gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Somatic mutations in GTF2F1 may alter transcription fidelity and contribute to tumorigenesis | COSMIC database reports mutations in multiple cancer types |
| Neurodevelopmental disorders | Rare germline variants may impair transcription regulation | ClinVar lists uncertain significance variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.8 | High |
| Lymph node | 27.5 | High |
| Spleen | 25.3 | High |
| Bone marrow | 22.1 | High |
| Brain | 15.2 | Medium |
| Liver | 12.4 | Medium |
| Heart | 10.1 | Medium |
| Kidney | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 35.2 | High expression |
| HeLa (cervical) | 28.6 | High expression |
| HepG2 (liver) | 20.1 | Medium expression |
| A549 (lung) | 18.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.R339W | Missense | <0.1% | Altered protein interaction |
| p.G382R | Missense | <0.1% | Potential loss of function |
| p.E420K | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may disrupt TFIIF complex assembly or RNA polymerase II binding, reducing transcription initiation efficiency.
Gain of Function (GOF)
Not reported for GTF2F1.
Dominant Negative (DN)
Not reported for GTF2F1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA polymerase II transcription initiation (Reactome R-HSA-75953)
• RNA polymerase II transcription elongation (Reactome R-HSA-75955)
• Formation of the pre-initiation complex (Reactome R-HSA-109639)
Protein Summary
GTF2F1 encodes the 517-amino acid alpha subunit (RAP74) of TFIIF. The protein contains an N-terminal domain that binds RNA polymerase II and a C-terminal domain involved in transcription elongation. It is ubiquitously expressed with highest levels in testis and lymphoid tissues. Post-translational modifications include phosphorylation, which regulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTF2F1 Knockout HEK293 Cell Line | EDJ-KQ3132 | Human | 2962 | Details Get a Quote |
| GTF2F1 Knockout A-549 Cell Line | EDJ-KQ24504 | Human | 2962 | Details Get a Quote |
| GTF2F1 Knockout HCT 116 Cell Line | EDJ-KQ24505 | Human | 2962 | Details Get a Quote |
| GTF2F1 Knockout HeLa Cell Line | EDJ-KQ24506 | Human | 2962 | Details Get a Quote |
