RBM41: RNA Binding Motif Protein 41
A gene encoding an RNA-binding protein involved in RNA processing and splicing regulation.
Gene Information Card
| Symbol | RBM41 |
|---|---|
| Full Name | RNA Binding Motif Protein 41 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 55285 ncbi.nlm.nih.gov/gene/55285 |
| Ensembl ID | ENSG00000101940 |
| UniProt ID | Q96I25 |
| OMIM ID | 300949 |
| HGNC ID | 30323 |
| Aliases | FLJ11127, MGC131944 |
Description
RBM41 (RNA Binding Motif Protein 41) is a protein-coding gene located on the X chromosome. The encoded protein contains an RNA recognition motif (RRM) and is involved in RNA processing, particularly pre-mRNA splicing. RBM41 is part of the U12-type spliceosome complex, which catalyzes the splicing of minor introns. The gene is expressed in multiple tissues and has been implicated in various cellular processes including cell cycle regulation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Spleen | 5.1 | Low |
| Lung | 4.3 | Low |
| Brain | 3.8 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.0 | Moderate expression |
| HeLa | 4.5 | Low expression |
| K562 | 3.2 | Low expression |
| HepG2 | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized in RBM41.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nucleotide binding |
| • mRNA splicing | • via spliceosome |
| • U12-type spliceosomal complex | • nucleus |
Pathways
• mRNA Splicing - Minor Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
RBM41 is a 441-amino acid protein with a molecular weight of approximately 49 kDa. It contains an N-terminal RNA recognition motif (RRM) that mediates binding to RNA. The protein localizes to the nucleus and is a component of the U12-type spliceosome, which is responsible for the removal of U12-type (minor) introns from pre-mRNA. RBM41 interacts with other spliceosomal proteins and is thought to play a role in the recognition and splicing of specific introns. Its expression is highest in testis, suggesting a potential role in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM41 Knockout HEK293 Cell Line | EDJ-KQ15009 | Human | 55285 | Details Get a Quote |
| RBM41 Knockout A-549 Cell Line | EDJ-KQ45540 | Human | 55285 | Details Get a Quote |
| RBM41 Knockout HCT 116 Cell Line | EDJ-KQ45541 | Human | 55285 | Details Get a Quote |
| RBM41 Knockout HeLa Cell Line | EDJ-KQ45542 | Human | 55285 | Details Get a Quote |
