RBM48
RNA Binding Motif Protein 48
Gene Information Card
| Symbol | RBM48 |
|---|---|
| Full Name | RNA Binding Motif Protein 48 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 84060 ncbi.nlm.nih.gov/gene/84060 |
| Ensembl ID | ENSG00000106348 |
| UniProt ID | Q8IYU8 |
| OMIM ID | 617543 |
| HGNC ID | 26492 |
| Aliases | C7orf26, FLJ21963 |
Description
RBM48 (RNA Binding Motif Protein 48) encodes a protein that contains an RNA recognition motif (RRM) and is involved in the assembly and function of the U12-type spliceosome, which is responsible for splicing minor introns. The protein is essential for minor intron splicing and is conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function variants in RBM48 impair minor intron splicing, leading to neurodevelopmental phenotypes. | OMIM #617543; PMID: 30409806 |
| Autosomal recessive intellectual developmental disorder | Homozygous or compound heterozygous mutations in RBM48 cause a syndromic form of intellectual disability with microcephaly and seizures. | ClinVar; PMID: 30409806 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Brain | 6.5 | Low |
| Heart | 4.8 | Low |
| Liver | 3.1 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.5 | RNA-seq data from GTEx |
| K562 | 7.2 | RNA-seq data from GTEx |
| HeLa | 6.9 | RNA-seq data from GTEx |
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; predicted loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop; loss of function |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Likely damaging; affects RNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants in RBM48 lead to loss of protein function, impairing minor intron splicing.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • U12-type spliceosomal complex (GO:0005689) |
| • via spliceosome (GO:0000398) | • nucleus (GO:0005634) |
Pathways
• Minor spliceosome pathway (Reactome: R-HSA-72163)
• mRNA Splicing - Minor Pathway (KEGG: hsa03040)
Protein Summary
RBM48 is a 266-amino acid protein containing an N-terminal RNA recognition motif (RRM). It is a core component of the U12-type spliceosome, specifically interacting with the U11/U12 di-snRNP complex. The protein is essential for the recognition and splicing of minor introns (U12-type), which are present in a small subset of genes involved in fundamental cellular processes.
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