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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SART1
spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP
Chromosome 11 · 11q13.1
NCBI Gene: 9092Ensembl: ENSG00000175467.16HGNC: HGNC:10538UniProt: O43290
218PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingmRNA splicing, via spliceosomepositive regulation of cytotoxic T cell differentiationcervical carcinomaovarian neoplasmosteoarthritis, hiposteoarthritis, knee
✦AI Summary

SART1 (spliceosome associated factor 1) is a multifunctional protein with primary roles in pre-mRNA splicing and emerging functions in DNA damage repair and cell cycle regulation. As a component of the U4/U6-U5 tri-snRNP complex, SART1 participates in spliceosome assembly and catalytic steps of mRNA splicing 1. Beyond splicing, SART1 functions as a direct mitosis-specific microtubule-associated protein that localizes to spindle poles to form a unique 'SART1 cap' structure, promoting spindle pole assembly through recruitment of pericentriolar material proteins 2. SART1 also participates in homologous recombination repair of DNA double-strand breaks by promoting DSB end resection in a BRCA1-dependent manner 3. Clinically, SART1 shows significant relevance to viral infections and cancer. SART1 restricts hepatitis B virus replication by suppressing HNF4α expression, which is essential for HBV transcription 4, and baseline SART1 expression correlates with interferon treatment response in chr11 hepatitis B patients 5. In Toxoplasma gondii, SART1 is essential for parasite virulence and host cell invasion through splicing-dependent mechanisms 6. SART1 is upregulated in several cancer types and regulates Mcl1 splicing to control apoptosis in neuroblastoma; targeting SART1 alongside other spliceosome components sensitizes Mcl1-dependent cancers to Bcl2 inhibitors 1. Loss of SART1 function also drives metabolic dysfunction-associated steatohepatitis progression to hepatocellular carcinoma through NF-κB pathway dysregulation 7.

Sources cited
1
SART1 suppresses HBV transcription by downregulating HNF4α expression through direct binding to its promoter
PMID: 34242702
2
SART1 is a mitosis-specific microtubule-associated protein that forms a 'SART1 cap' at spindle poles and recruits pericentriolar material proteins for spindle pole assembly
PMID: 40320072
3
SART1 (HAF) regulates NF-κB signaling and hepatocyte apoptosis; loss of SART1 predisposes to MASH-HCC development
PMID: 39255518
4
SART1 in Toxoplasma gondii maintains parasite virulence through regulation of splicing and expression of virulence effectors
PMID: 41485651
5
SART1 promotes DNA double-strand break end resection and homologous recombination repair in cooperation with BRCA1
PMID: 39117746
6
SART1 is part of a spliceosome subcomplex that regulates Mcl1 alternative splicing; knockdown sensitizes neuroblastoma to Bcl2 inhibitors
PMID: 24556687
7
Baseline SART1 expression in liver and PBMCs correlates with interferon treatment response against HBV infection
PMID: 28077916
Disease Associationsⓘ20
cervical carcinomaOpen Targets
0.14Weak
ovarian neoplasmOpen Targets
0.13Weak
osteoarthritis, hipOpen Targets
0.11Weak
osteoarthritis, kneeOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.04Suggestive
pulmonary fibrosisOpen Targets
0.04Suggestive
multiple sclerosisOpen Targets
0.04Suggestive
renal cell carcinomaOpen Targets
0.03Suggestive
chronic hepatitis B virus infectionOpen Targets
0.03Suggestive
placental retentionOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
non-alcoholic steatohepatitisOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
glaucomaOpen Targets
0.02Suggestive
hepatitis B virus infectionOpen Targets
0.02Suggestive
lumbar disc degenerationOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DHX15Protein interaction100%IKProtein interaction100%MFAP1Protein interaction100%NCBP1Protein interaction100%SRSF4Protein interaction100%SNRPAProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
77%
Ovary
76%
Brain
71%
Liver
56%
Heart
47%
Gene Interaction Network
Click a node to explore
SART1DHX15IKMFAP1NCBP1SRSF4SNRPA
PROTEIN STRUCTURE
Preparing viewer…
PDB4PYU · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.28 [0.21–0.39]
RankingsWhere SART1 stands among ~20K protein-coding genes
  • #1,900of 20,598
    Most Researched218 · top 10%
  • #1,906of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedSART1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Novel function of SART1 in HNF4α transcriptional regulation contributes to its antiviral role during HBV infection.
PMID: 34242702
J Hepatol · 2021
1.00
2
SART1 uniquely localizes to spindle poles forming a SART1 cap and promotes spindle pole assembly.
PMID: 40320072
J Biol Chem · 2025
0.90
3
The spliceosome factor SART1 exerts its anti-HCV action through mRNA splicing.
PMID: 25481564
J Hepatol · 2015
0.84
4
HAF prevents hepatocyte apoptosis and progression to MASH and HCC through transcriptional regulation of the NF-κB pathway.
PMID: 39255518
Hepatology · 2025
0.80
5
Expression of the SART1 tumor-rejection antigens in colorectal cancers.
PMID: 11156463
Dis Colon Rectum · 2000
0.76