HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SAP130
Sin3A associated protein 130
Chromosome 2 · 2q14.3
NCBI Gene: 79595Ensembl: ENSG00000136715.19HGNC: HGNC:29813UniProt: A0A2R8YDB8
91PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of transcription by RNA polymerase IInuclear speckSin3-type complexnegative regulation of stem cell population maintenanceneurodegenerative diseaseThromboembolismdeep vein thrombosisArthropathy
✦AI Summary

SAP130 (spliceosome-associated protein 130) is a multifunctional protein with roles in transcriptional repression and immunological signaling. As a component of the SF3b RNA splicing complex and transcription complexes like STAGA/TFTC 1, SAP130 functions in pre-mRNA splicing regulation, with mutations causing differential splicing defects and cell-cycle arrest in yeast 2. Beyond its classical splicing roles, SAP130 serves as a critical mediator of hepatocyte-macrophage crosstalk in inflammatory disease. Upon ferroptosis induction, SAP130 is released from damaged hepatocytes and acts as a damage-associated molecular pattern (DAMP), binding to macrophage-inducible C-type lectin (Mincle) 34. This SAP130-Mincle interaction activates Syk signaling and promotes M1 macrophage polarization, exacerbating inflammation 35. In disease contexts, serum SAP130 levels correlate significantly with Crohn's disease severity and predict response to enteral nutrition therapy 6. Additionally, SAP130 associates with cullin-RING ubiquitin ligase complexes in a Nedd8-dependent manner, potentially linking protein ubiquitination to gene expression regulation 1. These findings establish SAP130 as both a splicing regulator and an immunological danger signal with therapeutic implications for inflammatory and infectious diseases.

Sources cited
1
SAP130 is released from ferroptotic hepatocytes and binds Mincle on macrophages to activate Syk signaling and M1 polarization in PFOS-induced liver injury
PMID: 39163934
2
SAP130 mediates hepatocyte-macrophage crosstalk in PFOS-induced liver inflammation, with Foxo1 regulating SAP130 expression
PMID: 40773918
3
Serum SAP130 levels correlate with Crohn's disease severity and predict clinical response to exclusive enteral nutrition therapy
PMID: 31583714
4
SAP130 homolog Prp12p is a component of SF3b RNA splicing complex; mutations cause differential splicing defects and cell-cycle arrest
PMID: 11350031
5
SAP130 is a component of SF3b splicing and STAGA/TFTC transcription complexes; associates with cullin proteins in neddylation-dependent manner
PMID: 18173839
6
SAP130 is a self-ligand recognized by Mincle C-type lectin receptor, released upon cell death
PMID: 29230225
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
deep vein thrombosisOpen Targets
0.25Weak
ThromboembolismOpen Targets
0.25Weak
ArthropathyOpen Targets
0.23Weak
polymyalgia rheumaticaOpen Targets
0.22Weak
idiopathic pulmonary fibrosisOpen Targets
0.07Suggestive
Aortic CoarctationOpen Targets
0.06Suggestive
Rare genetic vascular diseaseOpen Targets
0.06Suggestive
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.06Suggestive
congenital left-sided heart lesionsOpen Targets
0.05Suggestive
hypoplastic left heart syndrome 1Open Targets
0.05Suggestive
aortic aneurysm, familial thoracic 7Open Targets
0.05Suggestive
HeterotaxiaOpen Targets
0.05Suggestive
congenital heart diseaseOpen Targets
0.04Suggestive
congenital heart defects, multiple types, 4Open Targets
0.04Suggestive
heparin cofactor 2 deficiencyOpen Targets
0.04Suggestive
Venous thrombosisOpen Targets
0.04Suggestive
moyamoya disease 7Open Targets
0.04Suggestive
ventricular septal defect 3Open Targets
0.04Suggestive
aortic aneurysm, familial thoracic 4Open Targets
0.04Suggestive
Pathogenic Variants1
NM_001330301.2(SAP130):c.181C>T (p.Gln61Ter)Likely pathogenic
not provided
★☆☆☆2018→ Residue 61
View on ClinVar ↗
Related Genes
TRRAPProtein interaction100%TAF9Protein interaction100%SGF29Protein interaction100%TAF10Protein interaction100%USP22Protein interaction100%TAF12Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
50%
Ovary
46%
Heart
40%
Lung
40%
Liver
35%
Gene Interaction Network
Click a node to explore
SAP130TRRAPTAF9SGF29TAF10USP22TAF12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96DP1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.24Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.15 [0.10–0.24]
RankingsWhere SAP130 stands among ~20K protein-coding genes
  • #5,269of 20,598
    Most Researched91
  • #4,918of 5,498
    Most Pathogenic Variants1
  • #725of 17,882
    Most Constrained (LOEUF)0.24 · top 5%
Genes detectedSAP130
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Neutrophil cell surface receptors and their intracellular signal transduction pathways.
PMID: 23994464
Int Immunopharmacol · 2013
1.00
2
SAP130 mediates crosstalk between hepatocyte ferroptosis and M1 macrophage polarization in PFOS-induced hepatotoxicity.
PMID: 39163934
Sci Total Environ · 2024
0.90
3
From structure to function - Ligand recognition by myeloid C-type lectin receptors.
PMID: 36382179
Comput Struct Biotechnol J · 2022
0.80
4
Sesamin attenuates liver inflammation caused by PFOS via regulating SAP130-mediated hepatocyte-macrophage crosstalk.
PMID: 40773918
Ecotoxicol Environ Saf · 2025
0.70
5
Mutation in the prp12+ gene encoding a homolog of SAP130/SF3b130 causes differential inhibition of pre-mRNA splicing and arrest of cell-cycle progression in Schizosaccharomyces pombe.
PMID: 11350031
RNA · 2001
0.60