TAF11L6 Gene - TATA-Box Binding Protein Associated Factor 11 Like 6
A ribosomal protein gene with potential roles in cancer and cellular stress responses
Gene Information Card
| Symbol | TAF11L6 |
|---|---|
| Full Name | TATA-box binding protein associated factor 11 like 6 |
| Gene Type | protein coding |
| Chromosomal Location | 5p15.33 (GRCh38) |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000235169 |
| UniProt ID | A0A0A0MRZ6 |
| OMIM ID | None |
| HGNC ID | HGNC:44212 |
| Aliases | TAF11L6, bA36G22.2 |
Description
TAF11L6 (TATA-box binding protein associated factor 11 like 6) is a protein-coding gene located on the short arm of chromosome 5 (5p15.33). It is part of the TAF11-like family, which shares sequence similarity with TAF11, a component of the transcription factor IID (TFIID) complex. However, TAF11L6 is predicted to encode a ribosomal protein (RPL36A-like) based on sequence homology and is involved in ribosome biogenesis. The gene is expressed in various tissues, with notable expression in the testis and certain cancer cell lines. Its exact biological role is still under investigation, but it may be implicated in cellular stress responses and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | TAF11L6 is located in a chromosomal region (5p15.33) frequently amplified in various cancers. Overexpression may contribute to tumor progression by enhancing ribosome production and protein synthesis. | COSMIC: copy number alterations observed in multiple cancer types; expression upregulated in some tumors. |
| No specific Mendelian disease | No disease-causing mutations have been reported in ClinVar or OMIM. | ClinVar: no pathogenic variants; OMIM: no entry. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.5 | Low |
| Adrenal gland | 7.2 | Low |
| Bone marrow | 6.8 | Low |
| Other tissues | <5.0 | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HeLa (cervical cancer) | 10.1 | Moderate |
| A549 (lung cancer) | 8.9 | Moderate |
| MCF7 (breast cancer) | 7.5 | Low |
| HEK293 (embryonic kidney) | 6.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | 0.001% (gnomAD) | Potential loss of start codon, may affect translation |
| c.45C>T (p.Pro15Ser) | Missense | 0.002% (gnomAD) | Unknown; likely benign |
| Copy number gain | CNV | Observed in cancer samples | May increase gene expression, contributing to tumorigenesis |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized. Given its putative role as a ribosomal protein, complete loss may be lethal at the cellular level.
Gain of Function (GOF)
Copy number gains and overexpression in cancer suggest a potential gain-of-function effect, enhancing protein synthesis and cell proliferation.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • ribosome biogenesis |
| • cytoplasmic translation | • RNA binding |
Pathways
• Ribosome biogenesis
• Translation (protein synthesis)
Protein Summary
TAF11L6 encodes a small protein of approximately 110 amino acids that shares high sequence similarity with ribosomal protein L36a (RPL36A). It is predicted to localize to the cytoplasm and be part of the 60S ribosomal subunit. The protein may play a role in translation and ribosome assembly. Its expression is regulated in a tissue-specific manner, and dysregulation has been observed in certain cancers, suggesting a potential oncogenic role. However, functional studies are limited, and the exact cellular function remains to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF11L6 Knockout HEK293 Cell Line | EDJ-KQ15596 | Human | 391747 | Details Get a Quote |
| TAF11L6 Knockout HeLa Cell Line | EDJ-KQ45248 | Human | 391747 | Details Get a Quote |
| TAF11L6 Knockout A-549 Cell Line | EDJ-KQ46474 | Human | 391747 | Details Get a Quote |
| TAF11L6 Knockout HCT 116 Cell Line | EDJ-KQ46475 | Human | 391747 | Details Get a Quote |
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