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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SAFB
scaffold attachment factor B
Chromosome 19 · 19p13.3
NCBI Gene: 6294Ensembl: ENSG00000160633.14HGNC: HGNC:10520UniProt: B7Z2F6
201PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmnucleusmidbodyRNA bindingneurodegenerative diseasebronchopneumoniaLung Abscessfungal infectious disease
✦AI Summary

SAFB (scaffold attachment factor B) is a nuclear matrix-associated RNA/DNA-binding protein that serves multiple regulatory functions in gene expression and genome stability. SAFB binds to scaffold/matrix attachment region (S/MAR) DNA and forms transcriptosomal complexes that couple transcription with RNA processing 1. The protein functions as a transcriptional repressor, including acting as an estrogen receptor corepressor and forming repressive complexes with HOXA9, NuRD, and HP1γ to suppress differentiation and apoptosis genes in acute myeloid leukemia 2. SAFB plays a crucial role in genome integrity by preventing retrotransposition of L1 elements and suppressing transposable element exonization while maintaining proper splicing 3. It also regulates chr19 organization by restricting L1-associated contact domain boundaries through binding L1 transcripts and inhibiting RNA polymerase II enrichment 4. Additionally, SAFB is involved in cellular stress responses, with hypoxia triggering ROS-mediated nuclear matrix remodeling and altered splicing patterns 5. The protein's multifunctional capabilities extend to DNA repair, mRNA processing, and interaction with chr19-modifying complexes, making it a key regulator of cellular homeostasis 1.

Sources cited
1
SAFB binds S/MAR DNA, forms transcriptosomal complexes, and has multifunctional capabilities in gene regulation
PMID: 27888239
2
SAFB forms repressive complexes with HOXA9, NuRD, and HP1γ to suppress differentiation genes in AML
PMID: 36577137
3
SAFB prevents L1 retrotransposition and suppresses transposable element exonization
PMID: 38355802
4
SAFB restricts L1-associated contact domain boundaries by binding L1 transcripts
PMID: 38604171
5
Hypoxia triggers ROS-mediated SAFB nuclear matrix remodeling and splicing changes
PMID: 36427398
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
bronchopneumoniaOpen Targets
0.20Weak
Lung AbscessOpen Targets
0.20Weak
fungal infectious diseaseOpen Targets
0.16Weak
poisoningOpen Targets
0.11Weak
neoplasmOpen Targets
0.09Suggestive
autosomal dominant cerebellar ataxiaOpen Targets
0.07Suggestive
pancreatic adenocarcinomaOpen Targets
0.05Suggestive
Kallmann syndromeOpen Targets
0.05Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
partial androgen insensitivity syndromeOpen Targets
0.05Suggestive
azoospermiaOpen Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
ring chromosome YOpen Targets
0.04Suggestive
Huntington diseaseOpen Targets
0.04Suggestive
46,XY partial gonadal dysgenesisOpen Targets
0.04Suggestive
46,XX gonadal dysgenesisOpen Targets
0.04Suggestive
delayed puberty, self-limitedOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SRPK1Protein interaction100%TJP3Protein interaction99%HNRNPA1Protein interaction98%TJP2Protein interaction96%NCBP2Protein interaction94%HNRNPKProtein interaction93%
Tissue Expression6 tissues
Ovary
100%
Brain
99%
Lung
93%
Bone Marrow
86%
Liver
77%
Heart
43%
Gene Interaction Network
Click a node to explore
SAFBSRPK1TJP3HNRNPA1TJP2NCBP2HNRNPK
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15424
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.22Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.12 [0.07–0.22]
RankingsWhere SAFB stands among ~20K protein-coding genes
  • #2,101of 20,598
    Most Researched201 · top quartile
  • #555of 17,882
    Most Constrained (LOEUF)0.22 · top 5%
Genes detectedSAFB
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Activated SUMOylation restricts MHC class I antigen presentation to confer immune evasion in cancer.
PMID: 35499080
J Clin Invest · 2022
1.00
2
The LC3-conjugation machinery specifies the loading of RNA-binding proteins into extracellular vesicles.
PMID: 31932738
Nat Cell Biol · 2020
0.90
3
Autonomous transposons tune their sequences to ensure somatic suppression.
PMID: 38355802
Nature · 2024
0.80
4
In focus in HCB.
PMID: 32382788
Histochem Cell Biol · 2020
0.72
5
SAFB restricts contact domain boundaries associated with L1 chimeric transcription.
PMID: 38604171
Mol Cell · 2024
0.70