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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SRSF1
serine and arginine rich splicing factor 1
Chromosome 17 Β· 17q22
NCBI Gene: 6426Ensembl: ENSG00000136450.13HGNC: HGNC:10780UniProt: Q07955
510PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTransporter
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingalternative mRNA splicing, via spliceosomenuclear specknucleusneurodevelopmental disorder with dysmorphic facies and behavioral abnormalitiesNeurodevelopmental delayIntellectual disabilityneurodegenerative disease
✦AI Summary

SRSF1 (serine and arginine-rich splicing factor 1) is a multifunctional RNA-binding protein that regulates alternative splicing through interaction with spliceosomal components, binding purine-rich RNA sequences to enhance or suppress exon inclusion 1. Beyond canonical splicing regulation, SRSF1 functions as a key node integrating cellular stress responses and metabolic pathways. In endothelial cells, SRSF1 accumulates under hypoxic conditions and promotes ischemia-induced angiogenesis by modulating alternative splicing of ATF3, which subsequently suppresses the KLF2-S1PR1 inhibitory pathway 1. SRSF1 expression is regulated downstream of mTORC1 signaling through SRPK2-mediated phosphorylation, coupling transcription and splicing of lipogenic enzymes via interaction with FAM120A and SREBP1 2. Clinically, SRSF1 dysregulation drives multiple malignancies. In pancreatic cancer, elevated SRSF1 promotes pancreatitis and KRASG12D-mediated tumorigenesis by upregulating IL1R1 through alternative splicing, though negative feedback normally constrains this activity 3. In prostate cancer, FOXA1-controlled SRSF1 orchestrates alternative splicing of NMD-sensitive isoforms, including FLNA exon 30 inclusion, predicting disease recurrence 4. SRSF1 is recurrently mutated in Richter syndrome transformation from chr17 lymphocytic leukemia 5. Importantly, SRSF1 inhibition via small-molecule targeting simultaneously reprograms tumor metabolism and enhances CD8+ T cell antitumor immunity, representing a dual-action immunotherapeutic strategy 6.

Sources cited
1
SRSF1 accumulates in endothelial cells under ischemia/hypoxia and promotes angiogenesis by modulating ATF3 alternative splicing to suppress KLF2-S1PR1 signaling
PMID: 41195527
2
mTORC1-activated SRPK2 phosphorylates SRSF1, enhancing its binding to FAM120A to couple transcription and splicing of lipogenic enzymes
PMID: 37595559
3
SRSF1 is elevated in pancreatitis and PDAC, promoting MAPK signaling through IL1R1 alternative splicing-regulated mRNA stability
PMID: 37098965
4
FOXA1 regulates SRSF1 expression in prostate cancer to orchestrate alternative splicing of NMD-targeted isoforms including FLNA exon 30
PMID: 36170835
5
SRSF1 is a recurrent somatic driver mutation in Richter syndrome arising from chronic lymphocytic leukemia
PMID: 36624313
6
SRSF1 inhibition by small-molecule TN2008 simultaneously reduces tumor metabolic reprogramming and enhances CD8+ T cell antitumor immunity
PMID: 39837814
Disease Associationsβ“˜21
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalitiesOpen Targets
0.62Moderate
Neurodevelopmental delayOpen Targets
0.54Moderate
Intellectual disabilityOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
dengue diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.33Weak
hypothyroidismOpen Targets
0.12Weak
autism spectrum disorderOpen Targets
0.12Weak
frozen shoulderOpen Targets
0.12Weak
cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
gliomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
Miyoshi myopathyOpen Targets
0.09Suggestive
oral squamous cell carcinomaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
small cell lung carcinomaOpen Targets
0.08Suggestive
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalitiesUniProt
Pathogenic Variants15
NM_006924.5(SRSF1):c.11del (p.Gly4fs)Pathogenic
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
β˜…β˜…β˜†β˜†2025β†’ Residue 4
NM_006924.5(SRSF1):c.478G>A (p.Val160Met)Pathogenic
Neurodevelopmental delay;Intellectual disability|Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
β˜…β˜…β˜†β˜†2024β†’ Residue 160
NM_006924.5(SRSF1):c.460C>T (p.Arg154Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 154
NM_006924.5(SRSF1):c.689G>A (p.Arg230Lys)Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
β˜…β˜†β˜†β˜†2025β†’ Residue 230
NM_006924.5(SRSF1):c.366_367del (p.Arg122fs)Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 122
NM_006924.5(SRSF1):c.552+1G>TLikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024
NM_006924.5(SRSF1):c.251T>G (p.Leu84Arg)Pathogenic
Intellectual disability;Neurodevelopmental delay|Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
β˜…β˜†β˜†β˜†2023β†’ Residue 84
NM_006924.5(SRSF1):c.231T>G (p.Tyr77Ter)Pathogenic
Intellectual disability;Neurodevelopmental delay
β˜…β˜†β˜†β˜†2023β†’ Residue 77
NM_006924.5(SRSF1):c.579dup (p.Val194fs)Pathogenic
Intellectual disability;Neurodevelopmental delay|Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
β˜…β˜†β˜†β˜†2023β†’ Residue 194
NM_006924.5(SRSF1):c.82C>T (p.Arg28Ter)Pathogenic
Intellectual disability;Neurodevelopmental delay
β˜…β˜†β˜†β˜†2023β†’ Residue 28
NM_006924.5(SRSF1):c.119G>T (p.Gly40Val)Pathogenic
Intellectual disability;Neurodevelopmental delay|Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
β˜…β˜†β˜†β˜†2023β†’ Residue 40
NM_006924.5(SRSF1):c.97G>T (p.Glu33Ter)Pathogenic
Intellectual disability;Neurodevelopmental delay
β˜…β˜†β˜†β˜†2023β†’ Residue 33
NM_006924.5(SRSF1):c.601del (p.Ser201fs)Pathogenic
Intellectual disability;Neurodevelopmental delay
β˜…β˜†β˜†β˜†2023β†’ Residue 201
NM_006924.5(SRSF1):c.208G>A (p.Ala70Thr)Pathogenic
Intellectual disability;Neurodevelopmental delay
β˜…β˜†β˜†β˜†2023β†’ Residue 70
NM_006924.5(SRSF1):c.377_378del (p.Ser126fs)Pathogenic
Intellectual disability;Neurodevelopmental delay
β˜…β˜†β˜†β˜†2023β†’ Residue 126
View on ClinVar β†—
Related Genes
SNRPGProtein interaction100%SF3A2Protein interaction100%PRPF8Protein interaction100%EFTUD2Protein interaction100%SF3B1Protein interaction100%SNRPD1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Brain
89%
Lung
72%
Liver
72%
Heart
37%
Bone Marrow
36%
Gene Interaction Network
Click a node to explore
SRSF1SNRPGSF3A2PRPF8EFTUD2SF3B1SNRPD1
PROTEIN STRUCTURE
Preparing viewer…
PDB4C0O Β· 2.56 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.17Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.04 [0.01–0.17]
RankingsWhere SRSF1 stands among ~20K protein-coding genes
  • #521of 20,598
    Most Researched510 Β· top 5%
  • #2,430of 5,498
    Most Pathogenic Variants15
  • #295of 17,882
    Most Constrained (LOEUF)0.17 Β· top 5%
Genes detectedSRSF1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Endothelial SRSF1 Promotes Ischemia-Induced Angiogenesis via ATF3-KLF2-S1PR1 Pathway.
PMID: 41195527
Circ Res Β· 2025
1.00
2
FOXA1 regulates alternative splicing in prostate cancer.
PMID: 36170835
Cell Rep Β· 2022
0.90
3
Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation.
PMID: 36543887
Nat Rev Drug Discov Β· 2023
0.80
4
Splicing Factor SRSF1 Promotes Pancreatitis and KRASG12D-Mediated Pancreatic Cancer.
PMID: 37098965
Cancer Discov Β· 2023
0.70
5
MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.
PMID: 28674081
EMBO Mol Med Β· 2017
0.64