BASP1 Gene (Brain Abundant Membrane Attached Signal Protein 1)
BASP1: A multifunctional signaling protein involved in neuronal development, cancer, and transcriptional regulation
Gene Information Card
| Symbol | BASP1 |
|---|---|
| Full Name | Brain Abundant Membrane Attached Signal Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p15.1 |
| NCBI Gene ID | 10409 ncbi.nlm.nih.gov/gene/10409 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | P80723 |
| OMIM ID | 605940 |
| HGNC ID | 957 |
| Aliases | NAP-22, CAP-23, 22kDa neuronal tissue-enriched acidic protein |
Description
BASP1 (Brain Abundant Membrane Attached Signal Protein 1) encodes a membrane-associated protein that is highly expressed in brain tissue. It plays roles in neuronal growth, synaptic plasticity, and transcriptional regulation. BASP1 interacts with calmodulin and can shuttle between the plasma membrane and nucleus, where it acts as a transcriptional corepressor for WT1 (Wilms tumor 1). It is implicated in cancer, particularly in Wilms tumor and leukemia, and in nervous system development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wilms tumor | BASP1 acts as a transcriptional corepressor of WT1; loss of BASP1 expression contributes to tumorigenesis | PMID: 19372390 |
| Acute myeloid leukemia (AML) | BASP1 is hypermethylated and silenced in AML, suggesting a tumor suppressor role | PMID: 21572415 |
| Schizophrenia | BASP1 expression is altered in prefrontal cortex of schizophrenia patients | PMID: 16936704 |
| Alzheimer disease | BASP1 is involved in synaptic dysfunction and is found in amyloid plaques | PMID: 21752995 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.2 | High |
| Testis | 6.8 | Medium |
| Heart | 3.1 | Low |
| Lung | 1.5 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.5 | Neuronal model |
| HEK293 (embryonic kidney) | 2.3 | Low expression |
| K562 (leukemia) | 0.5 | Silenced by methylation |
| MCF7 (breast cancer) | 1.1 | Low 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; effect unknown |
| c.214C>T (p.Arg72Cys) | Missense | <0.1% | Rare variant; functional impact not characterized |
| c.347G>A (p.Arg116His) | Missense | <0.1% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Hypermethylation and silencing of BASP1 in AML and Wilms tumor indicate tumor suppressor loss-of-function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in BASP1.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• WT1 signaling pathway
• Calmodulin signaling
• Neuronal development and plasticity
Protein Summary
BASP1 is a 22 kDa acidic protein that localizes to the plasma membrane via myristoylation and interacts with calmodulin. It shuttles to the nucleus where it functions as a transcriptional corepressor of WT1, regulating genes involved in cell growth and differentiation. In the brain, BASP1 is enriched in growth cones and synapses, modulating actin dynamics and neurite outgrowth. Its expression is frequently lost in Wilms tumor and AML due to promoter hypermethylation, supporting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BASP1 Knockout HEK293 Cell Line | EDJ-KQ7035 | Human | 10409 | Details Get a Quote |
| BASP1 Knockout A-549 Cell Line | EDJ-KQ30422 | Human | 10409 | Details Get a Quote |
| BASP1 Knockout HeLa Cell Line | EDJ-KQ31795 | Human | 10409 | Details Get a Quote |
| BASP1 Knockout HCT 116 Cell Line | EDJ-KQ72340 | Human | 10409 | Details Get a Quote |
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