NRARP
NOTCH-Regulated Ankyrin Repeat Protein
Gene Information Card
| Symbol | NRARP |
|---|---|
| Full Name | NOTCH-regulated ankyrin repeat protein |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 441478 ncbi.nlm.nih.gov/gene/441478 |
| Ensembl ID | ENSG00000198435 |
| UniProt ID | Q7Z6K4 |
| OMIM ID | 611701 |
| HGNC ID | 33843 |
| Aliases | FLJ90036, MGC138499, MGC138500 |
Description
NRARP (NOTCH-regulated ankyrin repeat protein) encodes a protein that functions as a negative feedback regulator of NOTCH signaling. It interacts with the NOTCH intracellular domain and CSL transcription factor complex to repress NOTCH target gene transcription. NRARP is involved in cell fate determination, differentiation, and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NRARP overexpression may modulate NOTCH signaling, promoting tumorigenesis | PMID: 23555202 |
| Colorectal cancer | NRARP expression correlates with NOTCH pathway activation and poor prognosis | PMID: 25605248 |
| T-cell acute lymphoblastic leukemia (T-ALL) | NRARP is a direct NOTCH target; aberrant expression contributes to leukemogenesis | PMID: 19690332 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Low |
| Brain | 3.8 | Low |
| Lung | 4.1 | Low |
| Liver | 2.9 | Not detected |
| Kidney | 6.0 | Low |
| Testis | 12.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.5 | Embryonic kidney cells |
| HeLa | 6.2 | Cervical cancer cells |
| K562 | 4.7 | Leukemia cells |
| MCF7 | 7.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | p.Met1Val; potential loss of start codon |
| c.205C>T | missense | <0.01% | p.Arg69Cys; unknown significance |
| c.340G>A | missense | <0.01% | p.Glu114Lys; unknown significance |
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)
Pathways
• NOTCH signaling pathway (KEGG: hsa04330)
• Signaling by NOTCH (Reactome: R-HSA-157118)
Protein Summary
NRARP is a 153-amino acid protein containing two ankyrin repeats. It localizes to the nucleus and acts as a transcriptional corepressor by binding to the NOTCH intracellular domain and CSL, thereby inhibiting NOTCH target gene expression. NRARP is itself induced by NOTCH signaling, forming a negative feedback loop. It plays roles in somitogenesis, neurogenesis, and T-cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRARP Knockout HEK293 Cell Line | EDJ-KQ14494 | Human | 441478 | Details Get a Quote |
| NRARP Knockout A-549 Cell Line | EDJ-KQ44758 | Human | 441478 | Details Get a Quote |
| NRARP Knockout HCT 116 Cell Line | EDJ-KQ44759 | Human | 441478 | Details Get a Quote |
| NRARP Knockout HeLa Cell Line | EDJ-KQ43506 | Human | 441478 | Details Get a Quote |
