TAF1B
TATA-Box Binding Protein Associated Factor 1b
Gene Information Card
| Symbol | TAF1B |
|---|---|
| Full Name | TATA-Box Binding Protein Associated Factor 1b |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 9013 ncbi.nlm.nih.gov/gene/9013 |
| Ensembl ID | ENSG00000115750 |
| UniProt ID | Q53T94 |
| OMIM ID | 604904 |
| HGNC ID | 11537 |
| Aliases | TAF1B, TAFI63, MGC:133155, TAF1B_HUMAN |
Description
TAF1B encodes a subunit of the transcription factor SL1 (selectivity factor 1), which is essential for RNA polymerase I-mediated transcription of ribosomal DNA. The protein directly interacts with the TATA-box binding protein (TBP) and is required for promoter recognition and transcription initiation of rRNA genes. TAF1B plays a critical role in ribosome biogenesis and cellular growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of rRNA transcription via SL1 complex alterations may promote uncontrolled cell proliferation. | COSMIC; literature review |
| Neurodevelopmental disorders | Potential impact on ribosomal RNA synthesis affecting neuronal protein production. | ClinVar; limited case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Brain (cortex) | 7.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | Embryonic kidney; high expression |
| HeLa | 11.7 | Cervical carcinoma; moderate expression |
| K562 | 9.1 | Leukemia; moderate expression |
| HepG2 | 7.8 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown; predicted damaging by in silico tools |
| c.1420G>A (p.Glu474Lys) | Missense | <0.01% | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • RNA polymerase I transcription regulator activity | • transcription initiation from RNA polymerase I promoter |
| • nucleolus | • protein binding |
| • TBP-class protein binding |
Pathways
• RNA polymerase I transcription
• rRNA transcription
• SL1 complex assembly
Protein Summary
TAF1B is a 63 kDa protein that localizes to the nucleolus and forms part of the SL1 complex. It contains a conserved TBP-binding domain and is essential for recruiting RNA polymerase I to ribosomal DNA promoters. The protein undergoes post-translational modifications including phosphorylation, which may regulate its activity during cell cycle progression.
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