RSRP1 (Arginine and Serine Rich Protein 1)
A component of the spliceosomal complex involved in pre-mRNA splicing and potentially linked to cancer and developmental disorders.
Gene Information Card
| Symbol | RSRP1 |
|---|---|
| Full Name | Arginine and Serine Rich Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 57035 ncbi.nlm.nih.gov/gene/57035 |
| Ensembl ID | ENSG00000117479 |
| UniProt ID | Q8N0W3 |
| OMIM ID | 617830 |
| HGNC ID | 26157 |
| Aliases | C1orf14, FLJ10305, SRRP1 |
Description
RSRP1 encodes a protein rich in arginine and serine residues, which is a component of the spliceosomal complex. It is involved in pre-mRNA splicing, particularly in the recognition and processing of specific splice sites. The protein localizes to nuclear speckles and interacts with other splicing factors. RSRP1 is ubiquitously expressed and has been implicated in cellular processes such as cell cycle regulation and differentiation. Alterations in RSRP1 expression or function have been associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of splicing leading to aberrant transcripts; overexpression or mutation may promote tumorigenesis. | COSMIC; literature |
| Developmental disorders (e.g., intellectual disability) | Loss-of-function mutations affecting splicing efficiency during neurodevelopment. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 7.5 | Low expression |
| A549 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166Gln) | Missense | <0.1% | Unknown; predicted benign by in silico tools |
| c.1024C>T (p.Arg342Trp) | Missense | <0.1% | Unknown; predicted possibly damaging |
| c.1357_1358insA (p.Thr453Asnfs*2) | Frameshift | <0.1% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that lead to premature termination codons and nonsense-mediated decay, reducing protein levels.
Gain of Function (GOF)
Not well characterized; some missense mutations may alter splicing activity or substrate specificity.
Dominant Negative (DN)
Not reported; potential if mutant protein interferes with spliceosomal complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • spliceosomal complex | • nucleus |
| • nuclear speck | • protein binding |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
RSRP1 is a 456-amino acid protein with a molecular weight of approximately 50 kDa. It contains an arginine/serine (RS) domain characteristic of SR splicing factors. The protein is predominantly nuclear and localizes to splicing speckles. It interacts with other spliceosomal components such as SNRNP70 and U2AF2. RSRP1 is thought to facilitate splice site recognition and spliceosome assembly. Post-translational modifications, including phosphorylation of RS repeats, regulate its activity and subcellular localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RSRP1 Knockout HEK293 Cell Line | EDJ-KQ15135 | Human | 57035 | Details Get a Quote |
| RSRP1 Knockout A-549 Cell Line | EDJ-KQ45729 | Human | 57035 | Details Get a Quote |
| RSRP1 Knockout HCT 116 Cell Line | EDJ-KQ45730 | Human | 57035 | Details Get a Quote |
| RSRP1 Knockout HeLa Cell Line | EDJ-KQ45731 | Human | 57035 | Details Get a Quote |
| RSRP1 Knockout U-87MG ATCC Cell Line | EDJ-KZ44 | Human | 57035 | Details Get a Quote |
| RSRP1 Knockout LN-229 Cell Line | EDJ-KZ439 | Human | 57035 | Details Get a Quote |
