NBL1: Neuroblastoma Suppressor of Tumorigenicity 1
A key regulator of BMP signaling with roles in development and cancer
Gene Information Card
| Symbol | NBL1 |
|---|---|
| Full Name | Neuroblastoma Suppressor of Tumorigenicity 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 4681 ncbi.nlm.nih.gov/gene/4681 |
| Ensembl ID | ENSG00000117479 |
| UniProt ID | P41271 |
| OMIM ID | 601869 |
| HGNC ID | 7656 |
| Aliases | DAN, DAND1, NB |
Description
NBL1 (neuroblastoma suppressor of tumorigenicity 1) encodes a secreted protein that belongs to the DAN family of BMP antagonists. It binds to BMPs (BMP2, BMP4, BMP7) and inhibits their signaling, thereby regulating cell growth, differentiation, and apoptosis. The gene is located on chromosome 1p36.13, a region frequently deleted in neuroblastoma and other cancers. NBL1 is widely expressed in adult tissues and plays a role in embryonic development, particularly in neural crest and skeletal formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | Loss of NBL1 expression due to 1p36 deletion or epigenetic silencing contributes to tumorigenesis by relieving BMP-mediated growth suppression. | PMID: 10652318; COSMIC; ClinVar |
| Colorectal cancer | Reduced NBL1 expression correlates with poor prognosis; re-expression inhibits tumor growth in vitro. | PMID: 15928335 |
| Osteoarthritis | NBL1 is upregulated in osteoarthritic cartilage and may modulate BMP signaling in joint degeneration. | PMID: 20629186 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 15.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 18.7 | Medium |
| Testis | 22.4 | High |
| Placenta | 30.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney; moderate expression |
| HeLa | 9.8 | Cervical carcinoma; low expression |
| SH-SY5Y | 5.2 | Neuroblastoma; low expression (consistent with tumor suppression) |
| MCF7 | 11.3 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of start codon; predicted loss of function |
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Unknown significance; rare in population |
| c.328G>A (p.Gly110Ser) | Missense | <0.1% | Reported in COSMIC; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
NBL1 loss-of-function mutations are rare but may reduce BMP antagonism, potentially contributing to cancer progression.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• BMP signaling pathway (Reactome: R-HSA-201451)
• Signaling by BMP (KEGG: hsa04350)
Protein Summary
The NBL1 protein (also known as DAN) is a 180-amino-acid secreted glycoprotein containing a DAN domain. It functions as a BMP antagonist by directly binding to BMP ligands (BMP2, BMP4, BMP7) and preventing their interaction with receptors. This inhibition modulates cell proliferation, differentiation, and apoptosis. The protein is highly conserved across vertebrates and is expressed in multiple tissues, with highest levels in placenta and testis. Its tumor-suppressive role is supported by frequent downregulation in neuroblastoma and other cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NBL1 Knockout HEK293 Cell Line | EDJ-KQ392 | Human | 4681 | Details Get a Quote |
| NBL1 Knockout A-549 Cell Line | EDJ-KQ17983 | Human | 4681 | Details Get a Quote |
| NBL1 Knockout HCT 116 Cell Line | EDJ-KQ18609 | Human | 4681 | Details Get a Quote |
| NBL1 Knockout HeLa Cell Line | EDJ-KQ18610 | Human | 4681 | Details Get a Quote |
| MICOS10-NBL1 Knockout HEK293 Cell Line | EDJ-KQ52503 | Human | 100532736 | Details Get a Quote |
| MICOS10-NBL1 Knockout HeLa Cell Line | EDJ-KQ60966 | Human | 100532736 | Details Get a Quote |
| MICOS10-NBL1 Knockout A-549 Cell Line | EDJ-KQ69441 | Human | 100532736 | Details Get a Quote |
| MICOS10-NBL1 Knockout HCT 116 Cell Line | EDJ-KQ77792 | Human | 100532736 | Details Get a Quote |
