BRINP1 (BMP/Retinoic Acid Inducible Neural Specific 1)
A gene encoding a protein involved in neural development and cell cycle regulation, with implications in cancer and neurological disorders.
Gene Information Card
| Symbol | BRINP1 |
|---|---|
| Full Name | BMP/Retinoic Acid Inducible Neural Specific 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.1 |
| NCBI Gene ID | 1620 ncbi.nlm.nih.gov/gene/1620 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | O60477 |
| OMIM ID | 605445 |
| HGNC ID | 1101 |
| Aliases | DBCCR1, FAM5A, BRINP1 |
Description
BRINP1 (BMP/Retinoic Acid Inducible Neural Specific 1) is a protein-coding gene located on chromosome 9q33.1. It encodes a protein that is induced by bone morphogenetic proteins (BMPs) and retinoic acid, and is predominantly expressed in neural tissues. BRINP1 functions as a tumor suppressor, particularly in bladder cancer, and is involved in cell cycle regulation, apoptosis, and neural development. Loss of expression due to promoter hypermethylation is frequently observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder Cancer | Promoter hypermethylation leads to silencing of BRINP1, contributing to tumorigenesis. | PMID: 11595764, ClinVar |
| Schizophrenia | Genetic variants and altered expression may influence neurodevelopment and synaptic function. | PMID: 21743477 |
| Colorectal Cancer | Reduced expression associated with poor prognosis and metastasis. | PMID: 19030189 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal Cord | 8.3 | Low |
| Testis | 6.1 | Low |
| Bladder | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
| T24 (bladder carcinoma) | 0.8 | Silenced by methylation |
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, loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Promoter hypermethylation and rare missense variants may reduce protein expression or activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of cell cycle | • apoptotic process |
| • neuron differentiation | • BMP signaling pathway |
| • protein binding |
Pathways
• BMP signaling pathway
• Retinoic acid signaling pathway
Protein Summary
The BRINP1 protein is a 746-amino acid protein with a molecular weight of approximately 84 kDa. It contains a signal peptide and is predicted to be secreted or membrane-associated. The protein is involved in cell cycle arrest and apoptosis, and its expression is regulated by BMPs and retinoic acid. It is frequently silenced by promoter methylation in bladder cancer and other malignancies, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRINP1 Knockout HEK293 Cell Line | EDJ-KQ4422 | Human | 1620 | Details Get a Quote |
| BRINP1 Knockout HeLa Cell Line | EDJ-KQ53072 | Human | 1620 | Details Get a Quote |
| BRINP1 Knockout A-549 Cell Line | EDJ-KQ61537 | Human | 1620 | Details Get a Quote |
| BRINP1 Knockout HCT 116 Cell Line | EDJ-KQ70030 | Human | 1620 | Details Get a Quote |
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