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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLF1
SMC5/6 complex localization factor 1
Chromosome 5 · 5q15
NCBI Gene: 84250Ensembl: ENSG00000133302.14HGNC: HGNC:25408UniProt: I6L9F1
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin protein ligase bindingprotein-containing complex bindingDNA damage responsealcohol drinkingfacial morphologyurinary tract obstructionhypertrophic cardiomyopathy
✦AI Summary

SLF1 (SMC5/6 complex localization factor 1) is a critical regulator of DNA damage response and genome stability maintenance. Its primary function is to facilitate recruitment of the SMC5/6 complex to DNA lesions, particularly at replication-coupled interstrand cross-links (ICL) and double-strand breaks (DSBs) 1. SLF1 achieves this through a multi-domain architecture: its ankyrin repeat domain binds unmethylated histone H4 tails on nascent nucleosomes, while its tandem BRCT domain interacts phosphorylation-dependently with RAD18 (S442/S444 phosphorylation sites), forming the SLF1-SLF2 complex that bridges RAD18 to SMC5/6 at stalled replication forks 2. SLF1 also possesses intrinsic DNA-binding capacity that enhances nucleosome recognition 2. Functionally, SLF1 promotes homologous recombination repair by enabling RAD18-mediated recruitment of SMC5/6 to DSBs while suppressing non-homologous end joining 3. Clinical relevance is underscored by mutations in SLF2 and SMC5—the latter functioning with SLF1 in the RAD18-SLF1/2-SMC5/6 pathway—causing Atelís Syndrome, characterized by segmented/dicentric chr5, mosaic variegated hyperploidy, elevated replication stress, and loss of sister chr5 cohesion 4. Additionally, RAD18 loss-of-function mutations identified in cancer patients suggest SLF1's pathway involvement in cancer development 3.

Sources cited
1
SLF1 recruits SMC5/6 complex to DNA lesions and maintains genome stability through postreplication repair
PMID: 25931565
2
SLF1 ankyrin repeat domain binds histone H4 tails; tBRCT domain shows phosphorylation-dependent RAD18 interaction; SLF1 possesses DNA-binding capacity
PMID: 39360622
3
SLF1-RAD18 interaction promotes homologous recombination repair by recruiting SMC5/6 to DSBs; RAD18 mutations found in cancer patients
PMID: 38884202
4
SLF2 and SMC5 mutations cause Atelís Syndrome with segmented chromosomes, hyperploidy, replication stress, and sister chromatid cohesion loss
PMID: 36333305
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.28Weak
facial morphologyOpen Targets
0.21Weak
urinary tract obstructionOpen Targets
0.16Weak
hypertrophic cardiomyopathyOpen Targets
0.10Weak
smoking initiationOpen Targets
0.10Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
VertigoOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
head and neck malignant neoplasiaOpen Targets
0.07Suggestive
exostosisOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
substance abuseOpen Targets
0.07Suggestive
brain cancerOpen Targets
0.07Suggestive
keratoconusOpen Targets
0.07Suggestive
smoking behaviorOpen Targets
0.07Suggestive
pelvic organ prolapseOpen Targets
0.06Suggestive
neuroendocrine neoplasmOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
bronchial diseaseOpen Targets
0.06Suggestive
ovarian neoplasmOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLF2Protein interaction97%RAD18Protein interaction96%TP53BP1Protein interaction93%PSMD12Protein interaction92%MCM3Protein interaction89%CDC45Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
45%
Heart
36%
Ovary
19%
Lung
16%
Liver
12%
Gene Interaction Network
Click a node to explore
SLF1SLF2RAD18TP53BP1PSMD12MCM3CDC45
PROTEIN STRUCTURE
Preparing viewer…
PDB8PEF · 1.28 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.70–1.02]
RankingsWhere SLF1 stands among ~20K protein-coding genes
  • #13,076of 20,598
    Most Researched25
  • #9,994of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedSLF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structural mechanisms of SLF1 interactions with Histone H4 and RAD18 at the stalled replication fork.
PMID: 39360622
Nucleic Acids Res · 2024
1.00
2
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
PMID: 36333305
Nat Commun · 2022
0.90
3
RAD18 directs DNA double-strand break repair by homologous recombination to post-replicative chromatin.
PMID: 38884202
Nucleic Acids Res · 2024
0.80
4
Fission yeast Srr1 and Skb1 promote isochromosome formation at the centromere.
PMID: 37237082
Commun Biol · 2023
0.70
5
SMC5/6-Mediated Plasmid Silencing is Directed by SIMC1-SLF2 and Antagonized by LT.
PMID: 40196500
bioRxiv · 2025
0.60