GTF3A: General Transcription Factor IIIA
A key regulator of RNA polymerase III transcription and 5S rRNA synthesis
Gene Information Card
| Symbol | GTF3A |
|---|---|
| Full Name | General Transcription Factor IIIA |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.2 |
| NCBI Gene ID | 2971 ncbi.nlm.nih.gov/gene/2971 |
| Ensembl ID | ENSG00000122034 |
| UniProt ID | Q92664 |
| OMIM ID | 600866 |
| HGNC ID | 4665 |
| Aliases | TFIIIA, AP-2, TF3A |
Description
GTF3A encodes the general transcription factor IIIA (TFIIIA), a zinc-finger protein that specifically binds to the internal control region of 5S ribosomal RNA genes. TFIIIA is essential for the initiation of 5S rRNA transcription by RNA polymerase III. It also participates in the intracellular transport and storage of 5S rRNA. The protein contains nine C2H2-type zinc fingers and a nuclear localization signal. GTF3A is ubiquitously expressed with highest levels in testis, ovary, and lymphoid tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of RNA Pol III transcription; altered 5S rRNA levels may affect ribosome biogenesis and cell proliferation | COSMIC; literature |
| Ovarian cancer | Overexpression of GTF3A associated with poor prognosis | COSMIC; literature |
| Testicular germ cell tumors | Elevated GTF3A expression observed | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Ovary | 18.2 | High |
| Lymph node | 15.1 | Medium |
| Spleen | 12.3 | Medium |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical cancer cell line |
| K562 | 19.8 | Leukemia cell line |
| A549 | 14.5 | Lung cancer cell line |
| HepG2 | 11.3 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA polymerase III transcription (Reactome: R-HSA-76071)
• 5S rRNA transcription (Reactome: R-HSA-73728)
Protein Summary
GTF3A encodes a 369-amino acid protein (UniProt Q92664) with nine C2H2-type zinc fingers. The protein binds specifically to the 5S rRNA gene internal control region, recruiting RNA polymerase III and other transcription factors. It also forms a complex with 5S rRNA and ribosomal proteins L5 and L11, participating in nucleocytoplasmic transport. The protein is predominantly nuclear with nucleolar enrichment.
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