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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SP100
SP100 nuclear antigen
Chromosome 2 · 2q37.1
NCBI Gene: 6672Ensembl: ENSG00000067066.18HGNC: HGNC:11206UniProt: P23497
135PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Mre11 complexDNA-binding transcription factor activity, RNA polymerase II-specificpositive regulation of transcription by RNA polymerase IInegative regulation of protein export from nucleusneurodegenerative diseaseCOVID-19joint diseaseliver disease
✦AI Summary

SP100 (speckled protein 100) is a tumor suppressor and major constituent of promyelocytic leukemia (PML) nuclear bodies, subnuclear organelles regulating cell growth, differentiation, and apoptosis 1. SP100 functions as both a transcriptional coactivator and corepressor of ETS1/ETS2, thereby regulating angiogenesis and endothelial cell motility 23. Through interaction with the MRN complex, SP100 participates in telomere maintenance, with recurrent SP100 alterations identified in leiomyosarcomas exhibiting alternative telomere lengthening 4. SP100 also modulates TP53-mediated transcription and FAS-mediated apoptosis, contributing to genomic stability 1. SP100 isoforms (A, B, C, HMG) serve as intrinsic antiviral factors restricting DNA virus replication, including herpesviruses and adenoviruses, through chr2 and transcriptional regulation of viral genomes 56. Clinically, SP100 autoantibodies are disease-specific markers for primary biliary cholangitis (PBC), a chr2 autoimmune liver disease, with high diagnostic specificity (97.7%) though low sensitivity (23.1%) 78. The SP100A isoform's m1A methylation status regulates PML body formation, with loss of methylation promoting tumor progression in melanoma 1. SP100 expression is interferon-inducible, enhancing innate immune responses 9.

Sources cited
1
SP100A is a core component of PML bodies; m1A methylation of SP100A is necessary for tumor suppressor function and PML body formation
PMID: 38118002
2
SP100 functions as a transcriptional coactivator of ETS1 and ETS2
PMID: 11909962
3
SP100 may act as a corepressor of ETS1 preventing its DNA binding
PMID: 15247905
4
SP100 is recurrently altered in leiomyosarcomas with alternative telomere lengthening
PMID: 29321523
5
SP100 isoforms restrict replication of DNA viruses and are manipulated during herpesvirus infection
PMID: 33598438
6
SP100 isoforms have differential roles in antiviral responses; adenoviruses selectively manipulate SP100A retention while displacing SP100B, C, and HMG
PMID: 24623443
7
SP100 autoantibodies have 97.7% specificity and 23.1% sensitivity for primary biliary cholangitis diagnosis
PMID: 25010534
8
SP100 autoantibodies are specific markers for primary biliary cholangitis
PMID: 29526309
9
SP100 gene contains an interferon-stimulated response element and is responsive to interferon treatment
PMID: 9268632
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.47Moderate
COVID-19Open Targets
0.32Weak
joint diseaseOpen Targets
0.29Weak
liver diseaseOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.27Weak
placental retentionOpen Targets
0.25Weak
Hereditary breast and ovarian cancer syndromeOpen Targets
0.12Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.12Weak
primary biliary cirrhosisOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
pneumococcal pneumoniaOpen Targets
0.08Suggestive
pancreatic adenocarcinomaOpen Targets
0.08Suggestive
infectionOpen Targets
0.07Suggestive
keratitisOpen Targets
0.05Suggestive
lymphoid neoplasmOpen Targets
0.05Suggestive
Joint stiffnessOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.03Suggestive
chronic lymphocytic leukemiaOpen Targets
0.03Suggestive
gliomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H3-5Protein interaction100%H3-4Protein interaction100%H3-3BProtein interaction100%H3C12Protein interaction100%H3C13Protein interaction100%HSP90AA1Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
87%
Heart
64%
Liver
53%
Ovary
47%
Brain
11%
Gene Interaction Network
Click a node to explore
SP100H3-5H3-4H3-3BH3C12H3C13HSP90AA1
PROTEIN STRUCTURE
Preparing viewer…
PDB5PXL · 1.35 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.50–0.81]
RankingsWhere SP100 stands among ~20K protein-coding genes
  • #3,437of 20,598
    Most Researched135 · top quartile
  • #6,840of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedSP100
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Primary biliary cholangitis.
PMID: 29526309
Med Clin (Barc) · 2018
1.00
2
Histone lactylation-boosted ALKBH3 potentiates tumor progression and diminished promyelocytic leukemia protein nuclear condensates by m1A demethylation of SP100A.
PMID: 38118002
Nucleic Acids Res · 2024
0.90
3
Integrative genomic and transcriptomic analysis of leiomyosarcoma.
PMID: 29321523
Nat Commun · 2018
0.80
4
The Fate of Speckled Protein 100 (Sp100) During Herpesviruses Infection.
PMID: 33598438
Front Cell Infect Microbiol · 2020
0.70
5
Autoimmune Markers in Primary Biliary Cholangitis.
PMID: 37945165
Clin Liver Dis · 2024
0.60