RITA1: RBPJ Interacting and Tubulin Associated 1
Gene encoding a regulator of Notch signaling and microtubule dynamics
Gene Information Card
| Symbol | RITA1 |
|---|---|
| Full Name | RBPJ Interacting and Tubulin Associated 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.13 |
| NCBI Gene ID | 84934 ncbi.nlm.nih.gov/gene/84934 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q96B36 |
| OMIM ID | 617963 |
| HGNC ID | 28689 |
| Aliases | C12orf52, RITA |
Description
RITA1 (RBPJ Interacting and Tubulin Associated 1) is a protein-coding gene located on chromosome 12q24.13. The encoded protein interacts with RBPJ, a key mediator of Notch signaling, and associates with microtubules, suggesting roles in transcriptional regulation and cytoskeletal dynamics. RITA1 is expressed in multiple tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung adenocarcinoma | Potential role in tumor progression via Notch pathway modulation | COSMIC; PMID: 25944712 |
| Breast cancer | Altered expression linked to cell migration | COSMIC; PMID: 28431213 |
| Colorectal cancer | RITA1 overexpression associated with poor prognosis | COSMIC; PMID: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 7.3 | RNA-seq |
| MCF7 (breast) | 6.9 | RNA-seq |
| HCT116 (colon) | 5.1 | RNA-seq |
| HEK293 (embryonic kidney) | 4.2 | RNA-seq |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.01% | Unknown functional impact |
| c.682G>A (p.Glu228Lys) | Missense | <0.01% | Predicted benign |
| c.1003_1004insA (p.Thr335Asnfs*2) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr335Asnfs*2) likely result in truncated protein and loss of function.
Gain of Function (GOF)
No gain-of-function mutations currently documented.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • microtubule binding (GO:0008017) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • microtubule (GO:0005874) | • Notch signaling pathway (GO:0007219) |
Pathways
• Notch signaling pathway (Reactome: R-HSA-157118)
• Signaling by NOTCH (Reactome: R-HSA-157118)
Protein Summary
RITA1 is a 401-amino acid protein that contains a coiled-coil domain and localizes to both the nucleus and cytoplasm. It interacts with RBPJ to modulate Notch target gene transcription and binds microtubules, potentially influencing cell division and migration. Expression is enriched in testis and brain, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RITA1 Knockout HEK293 Cell Line | EDJ-KQ9505 | Human | 84934 | Details Get a Quote |
| RITA1 Knockout A-549 Cell Line | EDJ-KQ37500 | Human | 84934 | Details Get a Quote |
| RITA1 Knockout HCT 116 Cell Line | EDJ-KQ37501 | Human | 84934 | Details Get a Quote |
| RITA1 Knockout HeLa Cell Line | EDJ-KQ37502 | Human | 84934 | Details Get a Quote |
