TFIP11: Tuftelin Interacting Protein 11
A gene encoding a protein involved in spliceosome assembly and potentially linked to cancer and developmental disorders.
Gene Information Card
| Symbol | TFIP11 |
|---|---|
| Full Name | Tuftelin Interacting Protein 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.1 |
| NCBI Gene ID | 24144 ncbi.nlm.nih.gov/gene/24144 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q9UBB9 |
| OMIM ID | 612387 |
| HGNC ID | 17189 |
| Aliases | STIP, NTR1, TIP39, CGI-55, HSPC194 |
Description
TFIP11 (Tuftelin Interacting Protein 11) encodes a protein that interacts with tuftelin and is a component of the U4/U6.U5 tri-snRNP complex, essential for spliceosome assembly and pre-mRNA splicing. The protein localizes to nuclear speckles and is involved in RNA processing. Alternative splicing of this gene results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered splicing due to TFIP11 dysregulation may contribute to tumorigenesis. | COSMIC: somatic mutations found in multiple cancer types. |
| Developmental disorders | Mutations in spliceosome components can lead to developmental abnormalities. | ClinVar: variants of uncertain significance reported in patients with neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Thyroid | 12.8 | Medium |
| Adrenal gland | 11.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| K562 | 10.8 | Medium expression |
| HepG2 | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; reported in ClinVar as VUS |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Lys412Glufs*3) likely result in nonsense-mediated decay or truncated protein, impairing spliceosome function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in TFIP11.
Dominant Negative (DN)
Not established; potential if mutant protein disrupts tri-snRNP assembly.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing (GO:0000398) | • spliceosomal complex (GO:0005681) |
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cadherin binding (GO:0045296) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
The TFIP11 protein (UniProt Q9UBB9) is 857 amino acids long and contains a G-patch domain involved in RNA binding. It is a component of the U4/U6.U5 tri-snRNP complex, which is critical for spliceosome activation. The protein interacts with tuftelin and may have additional roles in cellular stress responses. Subcellularly, it localizes to nuclear speckles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFIP11 Knockout HEK293 Cell Line | EDJ-KQ51132 | Human | 24144 | Details Get a Quote |
| TFIP11 Knockout HeLa Cell Line | EDJ-KQ55808 | Human | 24144 | Details Get a Quote |
| TFIP11 Knockout A-549 Cell Line | EDJ-KQ64303 | Human | 24144 | Details Get a Quote |
| TFIP11 Knockout HCT 116 Cell Line | EDJ-KQ72754 | Human | 24144 | Details Get a Quote |
