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27 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SF1
splicing factor 1
Chromosome 11 · 11q13.1
NCBI Gene: 7536Ensembl: ENSG00000168066.22HGNC: HGNC:12950UniProt: A0A7P0T9U7
206PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmspliceosomal complexprotein bindingidentical protein bindingNeurodevelopmental disorderneurodegenerative diseaseneoplasmHereditary breast and ovarian cancer syndrome
✦AI Summary

SF1 (splicing factor 1) is a critical RNA-binding protein that facilitates the ATP-dependent first step of spliceosome assembly during pre-mRNA splicing 1. The protein specifically binds to the intron branch point sequence 5'-UACUAAC-3' of pre-mRNA and interacts transiently with the SURP1 domain of the U2 snRNP component SF3A1, with a dissociation constant of approximately 20 μM, indicating a weak but functionally important interaction 1. This transient binding facilitates recruitment of U2 snRNP to early spliceosomal complexes, from which SF1 is subsequently dissociated during complex conversion 1. As a member of the SF1 helicase superfamily, SF1 shares structural similarity with other helicases involved in RNA and DNA metabolism, possessing characteristic RecA-like domains essential for its enzymatic activity 23. Beyond its splicing function, SF1 may also act as a transcription repressor. The protein localizes to the nucleoplasm and nucleus, where it participates in mRNA cis splicing via the spliceosome and contributes to 3'-splice site recognition [GO annotations]. While specific disease associations for the splicing factor SF1 are not detailed in the provided abstracts, its fundamental role in pre-mRNA processing makes it essential for proper gene expression regulation.

Sources cited
1
SF1 binds transiently to SURP1 domain of SF3A1 with ~20 μM dissociation constant and facilitates U2 snRNP recruitment
PMID: 36173164
2
SF1 belongs to helicase superfamily involved in RNA and DNA metabolism with conserved structural features
PMID: 20456941
3
SF1 helicases have conserved RecA-like domains essential for enzymatic and nucleic acid binding capabilities
PMID: 39093351
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Neurodevelopmental disorderOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.31Weak
neoplasmOpen Targets
0.10Suggestive
Hereditary breast and ovarian cancer syndromeOpen Targets
0.08Suggestive
disorder of sexual differentiationOpen Targets
0.07Suggestive
adenomaOpen Targets
0.07Suggestive
HypoglycemiaOpen Targets
0.06Suggestive
fetal growth restrictionOpen Targets
0.06Suggestive
ovarian cancerOpen Targets
0.06Suggestive
head and neck malignant neoplasiaOpen Targets
0.06Suggestive
ovarian carcinomaOpen Targets
0.06Suggestive
breast-ovarian cancer, familial, susceptibility to, 1Open Targets
0.06Suggestive
breast-ovarian cancer, familial, susceptibility to, 2Open Targets
0.06Suggestive
familial pancreatic carcinomaOpen Targets
0.05Suggestive
Lynch syndromeOpen Targets
0.05Suggestive
reticulum cell sarcomaOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
uterine fibroidOpen Targets
0.04Suggestive
Uterine leiomyomaOpen Targets
0.04Suggestive
hereditary breast ovarian cancer syndromeOpen Targets
0.04Suggestive
Pathogenic Variants2
NM_004630.4(SF1):c.1764_1776del (p.Pro590fs)Likely pathogenic
SF1-related neurodevelopmental disorder
★☆☆☆2025→ Residue 590
NM_004630.4(SF1):c.221del (p.Pro74fs)Likely pathogenic
Neurodevelopmental disorder
★☆☆☆2021→ Residue 74
View on ClinVar ↗
Related Genes
SF3B3Protein interaction100%SF3B2Protein interaction100%DDX46Protein interaction100%SNRPA1Protein interaction100%EFTUD2Protein interaction100%SF3A3Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
78%
Lung
55%
Liver
47%
Brain
38%
Heart
27%
Gene Interaction Network
Click a node to explore
SF1SF3B3SF3B2DDX46SNRPA1EFTUD2SF3A3
PROTEIN STRUCTURE
Preparing viewer…
PDB4FXW · 2.29 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.22Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.12 [0.07–0.22]
RankingsWhere SF1 stands among ~20K protein-coding genes
  • #2,034of 20,598
    Most Researched206 · top 10%
  • #4,242of 5,498
    Most Pathogenic Variants2
  • #563of 17,882
    Most Constrained (LOEUF)0.22 · top 5%
Genes detectedSF1
Sources retrieved27 papers
Response time—
📄 Sources
27â–¼
1
SF1 and SF2 helicases: family matters.
PMID: 20456941
Curr Opin Struct Biol · 2010
1.00
2
Pangenomic Classification of Pituitary Neuroendocrine Tumors.
PMID: 31883967
Cancer Cell · 2020
0.90
3
Broader impact and outcome of human NR5A1/SF1 variants.
PMID: 40645834
Best Pract Res Clin Endocrinol Metab · 2025
0.80
4
Reassessment of Plurihormonal Pituitary Adenomas/PitNETs.
PMID: 39233337
Am J Surg Pathol · 2024
0.80
5
Intramolecular autoinhibition regulates the selectivity of PRPF40A tandem WW domains for proline-rich motifs.
PMID: 38719828
Nat Commun · 2024
0.76