NUMB
NUMB Endocytic Adaptor Protein
Gene Information Card
| Symbol | NUMB |
|---|---|
| Full Name | NUMB endocytic adaptor protein |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.2-q24.3 |
| NCBI Gene ID | 8650 ncbi.nlm.nih.gov/gene/8650 |
| Ensembl ID | ENSG00000133703 |
| UniProt ID | P49757 |
| OMIM ID | 603728 |
| HGNC ID | 8060 |
| Aliases | S171, c14_5527 |
Description
NUMB encodes a cytoplasmic protein that functions as an endocytic adaptor and plays a critical role in cell fate determination, asymmetric cell division, and Notch signaling inhibition. It is involved in endocytosis, ubiquitination, and trafficking of membrane receptors. NUMB is considered a tumor suppressor in various cancers, with loss of expression linked to poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of NUMB expression leads to increased Notch signaling and tumor progression | PMID: 15156138 |
| Lung cancer | NUMB downregulation promotes epithelial-mesenchymal transition and metastasis | PMID: 23431171 |
| Glioblastoma | NUMB mutations and reduced expression correlate with aggressive tumor behavior | PMID: 17699751 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | High |
| Lung | 8.2 | Medium |
| Breast | 6.7 | Medium |
| Colon | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.3 | Embryonic kidney |
| HeLa | 9.8 | Cervical carcinoma |
| MCF7 | 7.4 | Breast cancer |
| A549 | 6.1 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional effect |
| c.100C>T | nonsense | <0.01% | Predicted loss of function |
| c.200_201del | frameshift deletion | <0.01% | Loss of protein function |
Mutation functional classification
Loss of Function (LOF)
NUMB loss-of-function mutations reduce endocytic adaptor activity, impairing Notch receptor downregulation and promoting oncogenic signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NUMB.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in NUMB.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis (GO:0006897) | • regulation of Notch signaling pathway (GO:0008593) |
| • protein binding (GO:0005515) | • cell differentiation (GO:0030154) |
| • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• Notch signaling pathway (Reactome: R-HSA-157118)
• Endocytosis (Reactome: R-HSA-199991)
Protein Summary
The NUMB protein (P49757) is a 603-amino-acid endocytic adaptor containing an N-terminal phosphotyrosine-binding (PTB) domain and C-terminal proline-rich regions. It localizes to endosomes and the plasma membrane, where it regulates internalization and degradation of Notch receptors. NUMB also interacts with E3 ubiquitin ligases such as LNX and Itch, modulating protein stability and cell polarity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUMB Knockout HEK293 Cell Line | EDJ-KQ440 | Human | 8650 | Details Get a Quote |
| NUMBL Knockout HEK293 Cell Line | EDJ-KQ441 | Human | 9253 | Details Get a Quote |
| NUMB Knockout A-549 Cell Line | EDJ-KQ18739 | Human | 8650 | Details Get a Quote |
| NUMB Knockout HCT 116 Cell Line | EDJ-KQ18740 | Human | 8650 | Details Get a Quote |
| NUMB Knockout HeLa Cell Line | EDJ-KQ18741 | Human | 8650 | Details Get a Quote |
| NUMBL Knockout A-549 Cell Line | EDJ-KQ18742 | Human | 9253 | Details Get a Quote |
| NUMBL Knockout HCT 116 Cell Line | EDJ-KQ18743 | Human | 9253 | Details Get a Quote |
| NUMBL Knockout HeLa Cell Line | EDJ-KQ18744 | Human | 9253 | Details Get a Quote |
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