TAF7L
TATA-box binding protein associated factor 7 like
Gene Information Card
| Symbol | TAF7L |
|---|---|
| Full Name | TATA-box binding protein associated factor 7 like |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 54457 ncbi.nlm.nih.gov/gene/54457 |
| Ensembl ID | ENSG00000102383 |
| UniProt ID | Q5T5C7 |
| OMIM ID | 300953 |
| HGNC ID | 11546 |
| Aliases | CT40, TAF2Q, TAFII-70, TAFII70 |
Description
TAF7L (TATA-box binding protein associated factor 7 like) is a testis-specific transcription factor that plays a critical role in spermatogenesis. It is a component of the TFIID complex and is involved in the regulation of gene expression during male germ cell development. TAF7L is located on the X chromosome and is essential for the transition from spermatogonia to spermatocytes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Loss-of-function mutations in TAF7L disrupt spermatogenesis, leading to reduced or absent sperm production. | PMID: 25552655 |
| Male infertility | Defects in TAF7L impair transcriptional regulation required for germ cell maturation. | PMID: 25552655 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatogonia | 15.0 | High expression in germ cells |
| Sertoli cells | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | Rare | Potential loss of function |
| c.100C>T | nonsense | Rare | Premature truncation, likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations in TAF7L are associated with spermatogenic failure and male infertility.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription initiation from RNA polymerase II promoter | • spermatogenesis |
| • DNA-binding transcription factor activity | • TFIID complex |
Pathways
• RNA polymerase II transcription initiation
• Spermatogenesis
Protein Summary
TAF7L is a 70 kDa protein that contains a histone-fold domain and interacts with TATA-binding protein (TBP). It is specifically expressed in testis and is required for the transcriptional activation of genes essential for male germ cell development. TAF7L replaces TAF7 in the TFIID complex during spermatogenesis, facilitating the transition from mitotic to meiotic stages.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF7L Knockout HEK293 Cell Line | EDJ-KQ11424 | Human | 54457 | Details Get a Quote |
| TAF7L Knockout HCT 116 Cell Line | EDJ-KQ39671 | Human | 54457 | Details Get a Quote |
| TAF7L Knockout HeLa Cell Line | EDJ-KQ56418 | Human | 54457 | Details Get a Quote |
| TAF7L Knockout A-549 Cell Line | EDJ-KQ64911 | Human | 54457 | Details Get a Quote |
