HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NBPF1
NBPF member 1
Chromosome 1 · 1p36.13
NCBI Gene: 55672Ensembl: ENSG00000219481.11HGNC: HGNC:26088UniProt: A0AAG2UXY5
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmneoplasmcanceradrenal cortex carcinomaneuroblastoma
✦AI Summary

NBPF1 (Neuroblastoma BreakPoint Family member 1) is a primate-specific gene with context-dependent tumor regulatory functions. Molecularly, NBPF1 acts primarily as a tumor suppressor through protein binding interactions 1 that inhibit key oncogenic signaling cascades. In cervical cancer, NBPF1 overexpression suppresses cell invasion and promotes apoptosis by inhibiting the PI3K/mTOR pathway 1. Similarly, in cutaneous squamous cell carcinoma, NBPF1 upregulation arrests cells in G1 phase and induces apoptosis via inhibition of the Akt-p53-Cyclin D pathway 2. During normal development, transient NBPF1 expression in the developing human hippocampus (gestational weeks 16-27) markedly increases PROX1+ cells, suggesting roles in neural progenitor differentiation 3. In neuroblastoma specifically, NBPF1 loss through 1p36 deletion or chr1 disruption correlates with tumor aggressiveness and serves as an independent prognostic biomarker for risk stratification 4 5. However, NBPF1 demonstrates oncogenic properties in liver cancer, where it promotes colony formation and invasion 6. This dual role extends to adrenocortical carcinoma, where NBPF1 correlates with immune hyporesponsiveness and poor prognosis 6. NBPF1 represents a context-specific therapeutic target with prognostic utility across multiple malignancies.

Sources cited
1
Transient expression of primate-specific NBPF1 leads to marked increase in PROX1+ cells in developing human hippocampus
PMID: 31942070
2
NBPF1 overexpression suppresses cervical cancer cell invasion and promotes apoptosis through PI3K/mTOR pathway inhibition
PMID: 26802646
3
NBPF1 overexpression arrests squamous carcinoma cells in G1 phase and promotes apoptosis via Akt-p53-Cyclin D pathway inhibition
PMID: 31058534
4
NBPF1 disruption by constitutional translocation in neuroblastoma patient; NBPF1 expression decreased in cell lines with 1p deletion; functions as tumor suppressor
PMID: 18493581
5
NBPF1 is independent biomarker for neuroblastoma risk stratification and prognosis prediction
PMID: 32619576
6
NBPF1 acts as tumor suppressor in neuroblastoma, prostate cancer, cutaneous SCC, and cervical cancer; functions as oncogene in liver cancer; correlates with poor prognosis in adrenocortical carcinoma
PMID: 36060966
7
NBPF1 identified as 5-FU resistance-related differentially expressed gene in colorectal adenocarcinoma prognostic model
PMID: 39130472
Disease Associationsⓘ20
neoplasmOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
adrenal cortex carcinomaOpen Targets
0.07Suggestive
neuroblastomaOpen Targets
0.05Suggestive
Nijmegen breakage syndromeOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
cervical cancerOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
systemic sclerodermaOpen Targets
0.03Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
acute tonsillitisOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.02Suggestive
breast fibrocystic diseaseOpen Targets
0.01Suggestive
arteriovenous malformations of the brainOpen Targets
0.01Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
tauopathyOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DRD5Protein interaction81%GTF2IProtein interaction81%UGT2B17Protein interaction81%NPEPPSProtein interaction81%GPRIN2Protein interaction81%SRGAP3Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Ovary
61%
Liver
40%
Heart
24%
Bone Marrow
20%
Lung
16%
Gene Interaction Network
Click a node to explore
NBPF1DRD5GTF2IUGT2B17NPEPPSGPRIN2SRGAP3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q3BBV0
View on AlphaFold ↗
RankingsWhere NBPF1 stands among ~20K protein-coding genes
  • #13,254of 20,598
    Most Researched24
Genes detectedNBPF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Decoding the development of the human hippocampus.
PMID: 31942070
Nature · 2020
1.00
2
Tumor-Suppressor Gene NBPF1 Inhibits Invasion and PI3K/mTOR Signaling in Cervical Cancer Cells.
PMID: 26802646
Oncol Res · 2016
0.90
3
Effects of neuroblastoma breakpoint family member 1 (NBPF1) gene on growth and Akt-p53-Cyclin D pathway in cutaneous squamous carcinoma cells.
PMID: 31058534
Neoplasma · 2019
0.80
4
A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes.
PMID: 18493581
PLoS One · 2008
0.70
5
Oncogene or tumor suppressor gene: An integrated pan-cancer analysis of
PMID: 36060966
Front Endocrinol (Lausanne) · 2022
0.60