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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SAP30L
SAP30 like
Chromosome 5 · 5q33.2
NCBI Gene: 79685Ensembl: ENSG00000164576.13HGNC: HGNC:25663UniProt: Q9HAJ7
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
zinc ion bindingfibrillar centernucleosome bindingnucleoplasmLeft bundle branch blockAlzheimer diseasebody weight gainliver disease
✦AI Summary

SAP30L functions as a transcriptional repressor within the Sin3A histone deacetylase corepressor complex 1. Its primary mechanism involves zinc-dependent DNA binding and bending through an N-terminal Cys3His zinc finger motif, enabling direct association with core histones and naked DNA 2. SAP30L serves as a key linker molecule that recruits histone deacetylases to nucleosomes and mediates protein-protein and protein-DNA interactions critical for chr5 remodeling 2. Phosphatidylinositol monophosphate binding regulates its DNA-binding activity and nuclear-cytoplasmic translocation 2. The protein contains a functional nucleolar localization signal enabling recruitment of Sin3A to the nucleolus 1. Structurally, SAP30L can undergo redox-dependent disulfide bond formation that releases its coordinated zinc ion under oxidative stress while maintaining protein folding and lipid binding 3. Clinically, SAP30L haploinsufficiency may contribute to congenital heart defects through disrupted cardiac development 4, and its associated long non-coding RNA SAP30L-AS1 shows prognostic value in head and neck squamous cell carcinoma 56. Phylogenetic analysis indicates SAP30L represents the ancestral SAP30 form, suggesting fundamental importance in eukaryotic transcriptional regulation 7.

Sources cited
1
SAP30L mediates zinc-dependent DNA binding/bending and associates with histones and DNA; PI monophosphoinositides regulate its DNA binding and nuclear-cytoplasmic localization
PMID: 19015240
2
SAP30L interacts with Sin3A corepressor complex components and targets Sin3A to the nucleolus via a functional nucleolar localization signal
PMID: 16820529
3
SAP30L haploinsufficiency may contribute to congenital heart defects; morpholino knockdown in zebrafish causes cardiac hypoplasia and cardiac insufficiency
PMID: 27589475
4
SAP30L zinc finger undergoes redox-dependent disulfide bond formation releasing coordinated zinc while maintaining protein fold and lipid binding
PMID: 26609676
5
SAP30L-AS1 (SAP30L-associated long non-coding RNA) has independent prognostic value in head and neck squamous cell carcinoma
PMID: 35022464
6
SAP30L-AS1 is part of an 8-necrotic-lncRNA model with prognostic value for HNSCC patient outcomes and immunotherapy response
PMID: 37335630
7
SAP30L is structurally positioned around SIN3A scaffold within Sin3/HDAC complex sub-assembly
PMID: 32294434
8
SAP30L represents the ancestral form of SAP30 protein and is found across animals, plants, fungi, and some unicellular eukaryotes
PMID: 19566944
Disease Associationsⓘ20
Left bundle branch blockOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.31Weak
body weight gainOpen Targets
0.30Weak
liver diseaseOpen Targets
0.30Weak
joint diseaseOpen Targets
0.17Weak
schizophreniaOpen Targets
0.14Weak
trigeminal nerve diseaseOpen Targets
0.11Weak
autism spectrum disorderOpen Targets
0.10Weak
glomerulonephritisOpen Targets
0.08Suggestive
brain injuryOpen Targets
0.07Suggestive
skin agingOpen Targets
0.07Suggestive
enteritisOpen Targets
0.06Suggestive
hair morphologyOpen Targets
0.06Suggestive
androgenetic alopeciaOpen Targets
0.06Suggestive
response to xenobiotic stimulusOpen Targets
0.05Suggestive
protozoa infectious diseaseOpen Targets
0.05Suggestive
prostate cancerOpen Targets
0.05Suggestive
alcohol drinkingOpen Targets
0.04Suggestive
vascular diseaseOpen Targets
0.03Suggestive
posterior cortical atrophyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBPJProtein interaction98%RBPJLProtein interaction98%ARID4AProtein interaction95%ARID4BProtein interaction95%SAP130Protein interaction95%NCOR2Protein interaction95%
Tissue Expression6 tissues
Ovary
100%
Brain
93%
Heart
93%
Lung
64%
Liver
56%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
SAP30LRBPJRBPJLARID4AARID4BSAP130NCOR2
PROTEIN STRUCTURE
Preparing viewer…
PDB2N1U · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.10Tolerant
Observed/Expected LoF0.47 [0.28–0.82]
RankingsWhere SAP30L stands among ~20K protein-coding genes
  • #10,686of 20,598
    Most Researched37
  • #6,944of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedSAP30L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DNA-binding and -bending activities of SAP30L and SAP30 are mediated by a zinc-dependent module and monophosphoinositides.
PMID: 19015240
Mol Cell Biol · 2009
1.00
2
SAP30L interacts with members of the Sin3A corepressor complex and targets Sin3A to the nucleolus.
PMID: 16820529
Nucleic Acids Res · 2006
0.90
3
The prognostic value of m6A-related LncRNAs in patients with HNSCC: bioinformatics analysis of TCGA database.
PMID: 35022464
Sci Rep · 2022
0.80
4
Chromosome 5q33 deletions associated with congenital heart defects.
PMID: 27589475
Am J Med Genet A · 2016
0.70
5
Redox-dependent disulfide bond formation in SAP30L corepressor protein: Implications for structure and function.
PMID: 26609676
Protein Sci · 2016
0.60