NBPF11
Neuroblastoma Breakpoint Family Member 11
Gene Information Card
| Symbol | NBPF11 |
|---|---|
| Full Name | NBPF member 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 200030 ncbi.nlm.nih.gov/gene/200030 |
| Ensembl ID | ENSG00000186866 |
| UniProt ID | Q8N660 |
| OMIM ID | 614420 |
| HGNC ID | 26057 |
| Aliases | MGC26694, NBPF11 |
Description
NBPF11 is a member of the neuroblastoma breakpoint family (NBPF) of genes, which are characterized by variable numbers of DUF1220 protein domains. The gene is located on chromosome 1q21.1, a region associated with recurrent copy number variations and neurodevelopmental disorders. NBPF11 is predominantly expressed in the brain and testis, and its function is linked to neuronal development and cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | NBPF genes are disrupted by chromosomal rearrangements in neuroblastoma; NBPF11 may contribute to tumorigenesis through altered gene dosage or fusion transcripts. | NCBI Gene, OMIM |
| 1q21.1 deletion syndrome | Deletion of the 1q21.1 region, including NBPF11, is associated with microcephaly, developmental delay, and schizophrenia. | ClinVar, OMIM |
| 1q21.1 duplication syndrome | Duplication of the 1q21.1 region, including NBPF11, is associated with macrocephaly, autism spectrum disorder, and intellectual disability. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 2.1 | Not detected |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 4.5 | Embryonic kidney |
| HeLa | 2.8 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.1% | p.Pro412Ser; unknown significance |
| c.567delA | frameshift | <0.01% | p.Lys189Asnfs*2; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • synapse (GO:0045202) |
Pathways
• Not assigned to any canonical pathway
Protein Summary
The NBPF11 protein contains multiple DUF1220 domains, which are involved in protein-protein interactions and may regulate cell proliferation. It is localized to the nucleus and synapses, suggesting roles in neuronal signaling and gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NBPF11 Knockout HEK293 Cell Line | EDJ-KQ3624 | Human | 200030 | Details Get a Quote |
| NBPF11 Knockout A-549 Cell Line | EDJ-KQ26847 | Human | 200030 | Details Get a Quote |
| NBPF11 Knockout HCT 116 Cell Line | EDJ-KQ26849 | Human | 200030 | Details Get a Quote |
| NBPF11 Knockout HeLa Cell Line | EDJ-KQ26850 | Human | 200030 | Details Get a Quote |
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