GTF2A1L: General Transcription Factor IIA Subunit 1 Like
A testis-specific transcription factor gene involved in spermatogenesis and male fertility.
Gene Information Card
| Symbol | GTF2A1L |
|---|---|
| Full Name | General Transcription Factor IIA Subunit 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.3 |
| NCBI Gene ID | 11036 ncbi.nlm.nih.gov/gene/11036 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9UNN4 |
| OMIM ID | 604711 |
| HGNC ID | 4650 |
| Aliases | ALF, TFIIA-alpha/beta-like factor, GTF2A1L, TFIIA-alpha/beta-like |
Description
GTF2A1L (General Transcription Factor IIA Subunit 1 Like) is a protein-coding gene located on chromosome 2p16.3. It encodes a testis-specific transcription factor that is a homolog of the general transcription factor TFIIA. The protein is involved in the initiation of transcription by RNA polymerase II and plays a critical role in spermatogenesis. Mutations and altered expression of GTF2A1L have been associated with male infertility and testicular germ cell tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Loss-of-function mutations in GTF2A1L impair spermatogenesis, leading to reduced sperm count or azoospermia. | ClinVar, OMIM |
| Testicular germ cell tumor | Altered expression of GTF2A1L may contribute to tumorigenesis in testicular tissues. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.3 | Low |
| Prostate | 0.2 | Low |
| Ovary | 0.1 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 8.2 | High expression |
| Seminoma cell lines | 6.5 | Moderate expression |
| HeLa | 0.1 | Not detected |
| HEK293 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.200C>T (p.Pro67Leu) | Missense | 0.01% | Unknown significance |
| c.450delG (p.Gly151Valfs*10) | Frameshift | Rare | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent protein, impairing spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription factor TFIID complex (GO:0005669) | • transcription initiation from RNA polymerase II promoter (GO:0006367) |
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
Pathways
• RNA polymerase II transcription initiation
• TFIIA-mediated transcription regulation
Protein Summary
GTF2A1L encodes a 244-amino acid protein (UniProt Q9UNN4) that is a testis-specific homolog of the TFIIA alpha/beta subunit. The protein contains a conserved TFIIA domain and interacts with TATA-binding protein (TBP) to facilitate transcription initiation. It is predominantly expressed in spermatocytes and round spermatids, where it regulates genes essential for male germ cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTF2A1L Knockout HEK293 Cell Line | EDJ-KQ51032 | Human | 11036 | Details Get a Quote |
| STON1-GTF2A1L Knockout HEK293 Cell Line | EDJ-KQ52224 | Human | 286749 | Details Get a Quote |
| GTF2A1L Knockout HeLa Cell Line | EDJ-KQ55553 | Human | 11036 | Details Get a Quote |
| STON1-GTF2A1L Knockout HeLa Cell Line | EDJ-KQ59563 | Human | 286749 | Details Get a Quote |
| GTF2A1L Knockout A-549 Cell Line | EDJ-KQ64047 | Human | 11036 | Details Get a Quote |
| STON1-GTF2A1L Knockout A-549 Cell Line | EDJ-KQ68029 | Human | 286749 | Details Get a Quote |
| GTF2A1L Knockout HCT 116 Cell Line | EDJ-KQ72497 | Human | 11036 | Details Get a Quote |
| STON1-GTF2A1L Knockout HCT 116 Cell Line | EDJ-KQ76409 | Human | 286749 | Details Get a Quote |
