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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SAP18
Sin3A associated protein 18
Chromosome 13 · 13q12.11
NCBI Gene: 10284Ensembl: ENSG00000150459.14HGNC: HGNC:10530UniProt: O00422
151PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
exon-exon junction complexnucleusnucleoplasmcytosolneurodegenerative diseasemigraine with aurapulmonary vascular congestionattention deficit hyperactivity disorder
✦AI Summary

SAP18 (Sin3A-associated protein 18) is an evolutionary conserved protein with dual roles in transcriptional repression and mRNA splicing regulation 1. As a core component of the SIN3-HDAC1/2 repressor complex, SAP18 enhances histone deacetylation-mediated transcriptional repression by tethering the complex to core histone proteins and directing formation of repressive chr13 states 2. This function is critical for regulating genes involved in embryonic development, stress response, and HIV-1 replication 1. SAP18 also functions as a structural component of the exon junction complex (EJC) through its association with the ASAP (apoptosis- and splicing-associated protein) complex, where its ubiquitin-like fold mediates assembly of splicing regulatory multiprotein complexes 3. Within this context, SAP18 regulates alternative mRNA splicing and suppresses cryptic splice sites 1. Recent BioID proximity mapping identified 72 spliceosomal proteins as SAP18 interactors, including prespliceosomal components SNRNP70, SF3B1, and U2AF1, revealing extensive involvement in splicing machinery 4. Clinically, SAP18 dysregulation associates with malignancies including T-cell lymphoma and Kaposi's sarcoma, with the SAP18-SIN3-SIRT3 axis emerging as a therapeutic target 56.

Sources cited
1
SAP18 dual role in transcriptional repression and splicing regulation; involvement in cancer and therapeutic potential
PMID: 37486712
2
SAP18 is a component of the SIN3-HDAC complex that represses transcription when tethered to promoters
PMID: 9150135
3
SAP18 ubiquitin-like fold enables assembly of splicing regulatory multiprotein complexes within nuclear speckles
PMID: 20966198
4
BioID reveals 72 spliceosomal proteins as SAP18 interactors, including prespliceosomal components
PMID: 39522233
5
SAP18-SIN3-SIRT3 axis is pharmacologically targetable for T-cell lymphoma suppression
PMID: 33273692
6
SAP18/HDAC1 complex downregulation promotes NF-κB activation and cell invasion in KSHV-induced Kaposi's sarcoma
PMID: 30670829
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
migraine with auraOpen Targets
0.13Weak
pulmonary vascular congestionOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.07Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.07Suggestive
schizophrenia 15Open Targets
0.07Suggestive
Phelan-McDermid syndromeOpen Targets
0.05Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.04Suggestive
Potocki-Lupski syndromeOpen Targets
0.04Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.02Suggestive
spinal cord injuryOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
T-cell acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNRPD2Protein interaction100%SNRPCProtein interaction100%KDM1AProtein interaction100%MAGOHProtein interaction100%RBM39Protein interaction100%EIF4A3Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
86%
Bone Marrow
62%
Liver
44%
Ovary
37%
Lung
35%
Gene Interaction Network
Click a node to explore
SAP18SNRPD2SNRPCKDM1AMAGOHRBM39EIF4A3
PROTEIN STRUCTURE
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PDB2HDE · NMR
View on RCSB ↗
RankingsWhere SAP18 stands among ~20K protein-coding genes
  • #3,005of 20,598
    Most Researched151 · top quartile
Genes detectedSAP18
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
BioID proximity mapping reveals novel SAP18 interactions in the prespliceosomal complex.
PMID: 39522233
Biochem Biophys Res Commun · 2024
1.00
2
Histone deacetylases and SAP18, a novel polypeptide, are components of a human Sin3 complex.
PMID: 9150135
Cell · 1997
0.90
3
Functional role of SAP18 protein: From transcriptional repression to splicing regulation.
PMID: 37486712
Cell Biochem Funct · 2023
0.80
4
AtSAP18, an orthologue of human SAP18, is involved in the regulation of salt stress and mediates transcriptional repression in Arabidopsis.
PMID: 16429262
Plant Mol Biol · 2006
0.70
5
Tumor-Infiltrated CD8+ T Cell 10-Gene Signature Related to Clear Cell Renal Cell Carcinoma Prognosis.
PMID: 35812454
Front Immunol · 2022
0.68