RBM47: RNA-Binding Motif Protein 47 – A Key Regulator in RNA Processing and Tumor Suppression
Comprehensive genomic and functional overview of RBM47, including gene structure, expression, mutations, and disease associations.
Gene Information Card
| Symbol | RBM47 |
|---|---|
| Full Name | RNA binding motif protein 47 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | 54502 ncbi.nlm.nih.gov/gene/54502 |
| Ensembl ID | ENSG00000163694 |
| UniProt ID | Q6ZVM7 |
| OMIM ID | 617403 |
| HGNC ID | 25058 |
| Aliases | RNPC1, RNA-binding motif protein 47, FLJ10718 |
Description
RBM47 (RNA binding motif protein 47) encodes a member of the RNA recognition motif (RRM) family of RNA-binding proteins. The protein is involved in post-transcriptional regulation, including alternative splicing, mRNA stability, and translation. RBM47 functions as a tumor suppressor in several cancers, particularly in breast and lung cancer, by modulating the expression of genes involved in cell proliferation, migration, and invasion. It also plays a role in embryonic development and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RBM47 loss leads to increased cell proliferation and metastasis via altered RNA splicing and stability of oncogenic transcripts. | PMID: 27746112, 29395067 |
| Lung adenocarcinoma | Downregulation of RBM47 promotes tumor growth and invasion through dysregulation of EMT-related genes. | PMID: 29395067, 31085178 |
| Colorectal cancer | RBM47 mutations and reduced expression correlate with poor prognosis and increased metastatic potential. | PMID: 27746112 |
| Hepatocellular carcinoma | RBM47 suppresses tumorigenesis by regulating RNA processing of cell cycle and apoptosis genes. | PMID: 31085178 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 15.2 | Medium |
| Liver | 6.7 | Low |
| Kidney | 10.1 | Medium |
| Testis | 20.4 | High |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 14.8 | Moderate expression |
| A549 (lung cancer) | 9.2 | Low expression |
| HCT116 (colorectal cancer) | 18.5 | High expression |
| HepG2 (liver cancer) | 7.1 | Low expression |
| HEK293 (embryonic kidney) | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335*) | Nonsense | <1% | Loss of function; truncation of protein |
| c.1420G>A (p.Glu474Lys) | Missense | <0.5% | Unknown; predicted damaging |
| c.1654_1655insA (p.Thr552Asnfs*3) | Frameshift | <0.1% | Loss of function; premature stop |
| c.788A>G (p.Asn263Ser) | Missense | <0.5% | Unknown; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg335*, p.Thr552Asnfs*3) lead to truncated or absent protein, reducing tumor suppressor activity.
Gain of Function (GOF)
No documented gain-of-function mutations in RBM47.
Dominant Negative (DN)
No evidence of dominant-negative effects; loss of heterozygosity may contribute to tumor progression.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA splicing (Reactome: R-HSA-72163)
• mRNA surveillance pathway (KEGG: hsa03015)
• Tumor suppressor pathways (via regulation of EMT and cell cycle)
Protein Summary
RBM47 is a 593-amino acid RNA-binding protein containing three RRM domains. It localizes predominantly to the nucleus and participates in pre-mRNA splicing, mRNA export, and stability. The protein interacts with components of the spliceosome and with 3' UTR elements of target mRNAs. RBM47 is widely expressed, with highest levels in testis and moderate levels in breast, colon, and kidney. Its loss is associated with aggressive cancer phenotypes, supporting its role as a tumor suppressor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM47 Knockout HEK293 Cell Line | EDJ-KQ10768 | Human | 54502 | Details Get a Quote |
| RBM47 Knockout A-549 Cell Line | EDJ-KQ39715 | Human | 54502 | Details Get a Quote |
| RBM47 Knockout HCT 116 Cell Line | EDJ-KQ39717 | Human | 54502 | Details Get a Quote |
| RBM47 Knockout HeLa Cell Line | EDJ-KQ39718 | Human | 54502 | Details Get a Quote |
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