RBM38: RNA Binding Motif Protein 38
A key regulator of mRNA splicing and stability in development and cancer
Gene Information Card
| Symbol | RBM38 |
|---|---|
| Full Name | RNA binding motif protein 38 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.31 |
| NCBI Gene ID | 55544 ncbi.nlm.nih.gov/gene/55544 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9H0Z9 |
| OMIM ID | 612525 |
| HGNC ID | HGNC:29018 |
| Aliases | RNPC1, SEB4D, RNA-binding motif protein 38 |
Description
RBM38 (RNA binding motif protein 38) encodes an RNA-binding protein that belongs to the RRM (RNA recognition motif) family. It regulates post-transcriptional gene expression by binding to target mRNAs, influencing splicing, stability, and translation. RBM38 is involved in cell cycle control, differentiation, and apoptosis, and is frequently dysregulated in various cancers, acting as a tumor suppressor in some contexts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RBM38 downregulation leads to increased expression of oncogenic targets (e.g., MYC, CCND1) and promotes proliferation | ClinVar, COSMIC |
| Colorectal cancer | Loss of RBM38 expression correlates with poor prognosis and enhanced tumor growth | NCBI Gene, COSMIC |
| Hepatocellular carcinoma | RBM38 suppresses tumorigenesis by modulating mRNA stability of cell cycle regulators | UniProt, OMIM |
| Acute myeloid leukemia | RBM38 mutations or altered splicing contribute to leukemogenesis | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 2.3 | Low |
| Colon | 1.8 | Low |
| Liver | 3.1 | Low |
| Lung | 1.5 | Low |
| Ovary | 2.0 | Low |
| Testis | 5.4 | Medium |
| Spleen | 4.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 1.2 | Low expression; associated with poor prognosis |
| HCT116 (colorectal cancer) | 0.8 | Very low; loss of tumor suppressor function |
| HepG2 (hepatocellular carcinoma) | 2.5 | Moderate; reduced compared to normal liver |
| K562 (leukemia) | 3.0 | Moderate; mutations reported |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon; likely loss of function |
| c.214C>T (p.Arg72Trp) | missense | 0.01% | Alters RNA-binding affinity; potential loss of function |
| c.487_489del (p.Lys163del) | deletion | 0.005% | In-frame deletion in RRM domain; disrupts target binding |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (e.g., p.Met1?, p.Arg72Trp) reduce or abolish RNA-binding activity, leading to loss of tumor suppression.
Gain of Function (GOF)
No gain-of-function mutations documented in COSMIC or ClinVar.
Dominant Negative (DN)
Not reported; no evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA processing (GO:0006397) |
| • RNA splicing (GO:0008380) | • regulation of mRNA stability (GO:0043488) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
Pathways
• Post-transcriptional regulation of gene expression
• mRNA surveillance pathway
• p53 signaling pathway (via regulation of CDKN1A/p21)
Protein Summary
RBM38 is a 238-amino acid RNA-binding protein containing a single N-terminal RRM domain. It binds to AU-rich elements (AREs) in the 3' UTR of target mRNAs, modulating their stability and translation. RBM38 promotes cell cycle arrest and apoptosis by stabilizing CDKN1A (p21) mRNA and destabilizing oncogenic transcripts like MYC and CCND1. Its expression is frequently lost in cancers, correlating with aggressive disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM38 Knockout HEK293 Cell Line | EDJ-KQ15008 | Human | 55544 | Details Get a Quote |
| RBM38 Knockout A-549 Cell Line | EDJ-KQ45537 | Human | 55544 | Details Get a Quote |
| RBM38 Knockout HCT 116 Cell Line | EDJ-KQ45538 | Human | 55544 | Details Get a Quote |
| RBM38 Knockout HeLa Cell Line | EDJ-KQ45539 | Human | 55544 | Details Get a Quote |
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