RNPS1: RNA Binding Protein With Serine Rich Domain 1
A key regulator of mRNA splicing, export, and nonsense-mediated decay (NMD).
Gene Information Card
| Symbol | RNPS1 |
|---|---|
| Full Name | RNA binding protein with serine rich domain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 10921 ncbi.nlm.nih.gov/gene/10921 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q15287 |
| OMIM ID | 604961 |
| HGNC ID | 10080 |
| Aliases | HCG1, MGC10472, RP11-529I10.1 |
Description
RNPS1 encodes a serine-rich RNA-binding protein that is a component of the spliceosome and the exon junction complex (EJC). It plays essential roles in pre-mRNA splicing, nuclear export of mature mRNAs, and nonsense-mediated mRNA decay (NMD). The protein interacts with other EJC core components such as MAGOH and RBM8A to regulate post-transcriptional gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and brain malformations | Loss-of-function variants in RNPS1 disrupt EJC assembly, leading to impaired mRNA processing and neuronal development | ClinVar, OMIM |
| Intellectual disability | Heterozygous missense mutations in RNPS1 are associated with autosomal dominant intellectual disability | ClinVar |
| Cancer (various) | Altered RNPS1 expression and splicing variants contribute to tumorigenesis by affecting alternative splicing of oncogenes and tumor suppressors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.3 | Low |
| Heart | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | Embryonic kidney cell line |
| HeLa | 11.5 | Cervical cancer cell line |
| K562 | 9.8 | Leukemia cell line |
| HepG2 | 8.4 | Hepatocellular carcinoma cell line |
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.325C>T (p.Arg109Trp) | Missense | Rare | Impaired EJC assembly, associated with neurodevelopmental disorder |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Reduced RNA binding affinity, dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated protein or nonsense-mediated decay of the transcript.
Gain of Function (GOF)
Not reported for RNPS1.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg109Trp) that disrupt EJC complex formation while retaining partial function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Nonsense-Mediated Decay (NMD) (Reactome: R-HSA-927802)
• Transport of Mature mRNA derived from an Intron-Containing Transcript (Reactome: R-HSA-159236)
Protein Summary
RNPS1 is a 305-amino acid protein containing an N-terminal RNA recognition motif (RRM) and a C-terminal serine-rich domain. It is a core component of the exon junction complex (EJC), which is deposited on spliced mRNAs upstream of exon-exon junctions. RNPS1 facilitates the recruitment of splicing factors and NMD machinery. The protein is ubiquitously expressed with highest levels in testis and brain. Structural studies show that RNPS1 forms a heterodimer with MAGOH and RBM8A to stabilize the EJC.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNPS1 Knockout HEK293 Cell Line | EDJ-KQ51020 | Human | 10921 | Details Get a Quote |
| RNPS1 Knockout HeLa Cell Line | EDJ-KQ55528 | Human | 10921 | Details Get a Quote |
| RNPS1 Knockout A-549 Cell Line | EDJ-KQ64018 | Human | 10921 | Details Get a Quote |
| RNPS1 Knockout HCT 116 Cell Line | EDJ-KQ72469 | Human | 10921 | Details Get a Quote |
