TAF1D
TATA-box binding protein associated factor 1D
Gene Information Card
| Symbol | TAF1D |
|---|---|
| Full Name | TATA-box binding protein associated factor 1D |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 79101 ncbi.nlm.nih.gov/gene/79101 |
| Ensembl ID | ENSG00000166004 |
| UniProt ID | Q9HBM1 |
| OMIM ID | 612823 |
| HGNC ID | 26192 |
| Aliases | TAF(I)95, TAF1D, TAF1D_HUMAN, TAF1D1 |
Description
TAF1D encodes a component of the transcription factor SL1/TIF-IB complex, which is essential for RNA polymerase I-dependent transcription of ribosomal RNA genes. The protein directly interacts with TBP and other SL1 subunits to promote pre-initiation complex assembly at the rDNA promoter, thereby regulating ribosome biogenesis and cell growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered TAF1D expression may disrupt rRNA synthesis, affecting cell proliferation and tumorigenesis. | COSMIC; literature |
| Neurodevelopmental disorders | Potential role in neuronal ribosome biogenesis; limited direct evidence. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.3 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 5.2 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney |
| HeLa | 9.5 | Cervical carcinoma |
| K562 | 8.0 | Leukemia |
| HepG2 | 6.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | missense | <0.1% | Unknown functional impact |
| c.452A>G (p.Asn151Ser) | missense | <0.1% | Unknown functional impact |
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 core promoter sequence-specific DNA binding | • transcription initiation at RNA polymerase I promoter |
| • SL1 complex | • nucleolus |
| • protein binding |
Pathways
• RNA polymerase I transcription
• rRNA transcription
• ribosome biogenesis
Protein Summary
TAF1D is a 95 kDa protein that localizes to the nucleolus and forms part of the SL1 complex. It contains a TBP-binding domain and is required for accurate initiation of rRNA transcription by RNA polymerase I. The protein is highly conserved in eukaryotes and is essential for cell viability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF1D Knockout HEK293 Cell Line | EDJ-KQ15590 | Human | 79101 | Details Get a Quote |
| TAF1D Knockout HeLa Cell Line | EDJ-KQ45235 | Human | 79101 | Details Get a Quote |
| TAF1D Knockout HCT 116 Cell Line | EDJ-KQ46461 | Human | 79101 | Details Get a Quote |
| TAF1D Knockout A-549 Cell Line | EDJ-KQ65660 | Human | 79101 | Details Get a Quote |
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