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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RSRP1
arginine and serine rich protein 1
Chromosome 1 · 1p36.11
NCBI Gene: 57035Ensembl: ENSG00000117616.19HGNC: HGNC:25234UniProt: Q9BUV0
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingspliceosomal complex assemblynucleusrheumatoid arthritiscoronary artery diseaseBlood group antigen abnormalitymetabolic disease
✦AI Summary

RSRP1 (arginine and serine rich protein 1) is a spliceosomal factor involved in pre-mRNA processing and isoform regulation. The protein localizes to the nucleus where it contributes to spliceosome assembly and regulates alternative splicing of target genes including PARP6 1. RSRP1 functions as part of the RNA metabolism and gene expression machinery, with its expression levels potentially affected by epigenetic modifications during aging 2. In terms of mechanism, RSRP1 expression is altered downstream of splicing factor degradation; when the critical splicing regulator RBM39 is depleted, RSRP1 is upregulated, demonstrating its role in compensatory splicing responses 3. Disease relevance emerges from rheumatoid arthritis (RA) studies, where RSRP1 is specifically downregulated in double-negative T cells from RA patients, correlating with defects in oxidative phosphorylation and antigen presentation 4. This downregulation in immune cells suggests RSRP1 may contribute to the immunological dysfunction characteristic of RA. While RSRP1's precise clinical significance remains incompletely characterized, its dysregulation in both inflammatory autoimmune disease and its role in splicing-dependent protein isoform switching position it as a potential biomarker and therapeutic target in RA and possibly other conditions involving splicing dysregulation.

Sources cited
1
RSRP1 is proposed to be involved in RNA metabolism and gene expression based on functional annotation analysis
PMID: 34318869
2
RSRP1 is upregulated in response to RBM39 degradation due to altered splicing, demonstrating its role in spliceosome-mediated compensation
PMID: 37255411
3
RSRP1 shows age-associated increases in 5-hydroxymethylation in DNA of aged human fibroblasts
PMID: 33374812
4
RSRP1 is specifically downregulated in double-negative T cells from rheumatoid arthritis patients and correlates with metabolic dysfunction
PMID: 37600067
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
rheumatoid arthritisOpen Targets
0.32Weak
coronary artery diseaseOpen Targets
0.27Weak
Blood group antigen abnormalityOpen Targets
0.18Weak
metabolic diseaseOpen Targets
0.13Weak
arrhythmogenic right ventricular dysplasia, familial, 14Open Targets
0.12Weak
hemolytic disease of fetus and newborn, RH-inducedOpen Targets
0.12Weak
depressive disorderOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
androgenetic alopeciaOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
response to vaccineOpen Targets
0.06Suggestive
sialolithiasisOpen Targets
0.03Suggestive
neuroendocrine neoplasmOpen Targets
0.03Suggestive
alopeciaOpen Targets
0.03Suggestive
skin neoplasmOpen Targets
0.03Suggestive
response to stimulusOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
cardiovascular diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLK2Protein interaction85%CLK3Protein interaction84%GCFC2Shared pathway50%GEMIN6Shared pathway33%CRNKL1Shared pathway33%ZRSR2Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
64%
Lung
62%
Ovary
60%
Heart
31%
Brain
9%
Gene Interaction Network
Click a node to explore
RSRP1CLK2CLK3GCFC2GEMIN6CRNKL1ZRSR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BUV0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.42LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.79–1.42]
RankingsWhere RSRP1 stands among ~20K protein-coding genes
  • #13,511of 20,598
    Most Researched23
  • #14,668of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedRSRP1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Overlaid Transcriptional and Proteome Analyses Identify Mitotic Kinesins as Important Targets of Arylsulfonamide-Mediated RBM39 Degradation.
PMID: 37255411
Mol Cancer Res · 2023
1.00
2
Functionathon: a manual data mining workflow to generate functional hypotheses for uncharacterized human proteins and its application by undergraduate students.
PMID: 34318869
Database (Oxford) · 2021
0.80
3
Analyzation of the Peripheral Blood Mononuclear Cells Atlas and Cell Communication of Rheumatoid Arthritis Patients Based on Single-Cell RNA-Seq.
PMID: 37600067
J Immunol Res · 2023
0.60
4
Alterations in the Genomic Distribution of 5hmC in In Vivo Aged Human Skin Fibroblasts.
PMID: 33374812
Int J Mol Sci · 2020
0.40
5
Elevated C1orf63 expression is correlated with CDK10 and predicts better outcome for advanced breast cancers: a retrospective study.
PMID: 26209438
BMC Cancer · 2015
0.20