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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SPRTN
SprT-like N-terminal domain
Chromosome 1 Β· 1q42.2
NCBI Gene: 83932Ensembl: ENSG00000010072.17HGNC: HGNC:25356UniProt: Q9H040
53PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairProtease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chromatinsingle-stranded DNA bindingnuclear speckmetalloendopeptidase activityprogeroid features-hepatocellular carcinoma predisposition syndromehypotensionoligospermiaReduced sperm motility
✦AI Summary

SPRTN is a DNA-dependent metalloendopeptidase that proteolytically cleaves DNA-protein crosslinks (DPCs), highly toxic lesions induced by UV light, formaldehyde, and endogenous factors 12. During DNA synthesis, SPRTN associates with replication machinery to remove DPCs that would otherwise block replication and transcription 13. SPRTN acts as a pleiotropic protease targeting multiple DNA-binding proteins including TOP1, TOP2A, and histones H3/H4 3. Its activity is allosterically activated by ubiquitin binding to the protease domain, ensuring substrate specificity and preventing off-target cleavage 4. SPRTN catalyzes proteolytic cleavage of HMCES crosslinks following BRIP1/FANCJ helicase unwinding and recruits VCP/p97 to damage sites 56. Additionally, SPRTN promotes CHEK1 activation during normal replication through proteolytic cleavage 7. Biallelic SPRTN mutations cause Ruijs-Aalfs syndrome, characterized by progeria and hepatocellular carcinoma, with pathology driven by unresolved DPCs activating cGAS-STING innate immunity 89. SPRTN deficiency results in genome instability, chromosome 1 errors, and premature aging, highlighting its essential role in maintaining genomic integrity.

Sources cited
1
SPRTN mediates proteolytic cleavage of covalent DPCs induced by reactive agents like UV light and formaldehyde
PMID: 27852435
2
SPRTN plays a key role in removing DPCs that interfere with DNA replication and transcription
PMID: 27871365
3
SPRTN acts as a pleiotropic protease targeting TOP1, TOP2A, and histones H3/H4 crosslinked to DNA
PMID: 27871366
4
SPRTN catalyzes proteolytic cleavage of HMCES crosslinks following BRIP1/FANCJ helicase unfolding
PMID: 36608669
5
SPRTN is involved in recruitment of VCP/p97 to sites of DNA damage
PMID: 22902628
6
SPRTN acts as an activator of CHEK1 during normal DNA replication through proteolytic cleavage, but not in response to DNA damage
PMID: 31316063
7
Ubiquitin allosterically activates SPRTN through binding to the protease domain, promoting an open active conformation
PMID: 40691134
8
Loss of SPRTN in Ruijs-Aalfs syndrome leads to unresolved DPCs, micronuclei formation, and cGAS-STING-driven inflammation causing premature aging and embryonic lethality
PMID: 41610251
9
SPRTN is a DNA-dependent metalloprotease essential for DPC repair; mutations cause Ruijs-Aalfs syndrome with hepatocellular carcinoma and progeria
PMID: 35782873
10
SPRTN works with p97 and TEX264 to resolve topoisomerase 1-DNA adducts during replication
PMID: 32152270
Disease Associationsβ“˜21
progeroid features-hepatocellular carcinoma predisposition syndromeOpen Targets
0.61Moderate
hypotensionOpen Targets
0.27Weak
Abnormal sperm morphologyOpen Targets
0.27Weak
neurodevelopmental disorder with microcephaly, seizures, and brain atrophyOpen Targets
0.27Weak
oligospermiaOpen Targets
0.27Weak
Reduced sperm motilityOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
high altitude adaptationOpen Targets
0.17Weak
frozen shoulderOpen Targets
0.04Suggestive
muscular dystrophy, congenital, with cataracts and intellectual disabilityOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
sign or symptomOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
adolescent idiopathic scoliosisOpen Targets
0.02Suggestive
HypercholesterolemiaOpen Targets
0.02Suggestive
endometriosisOpen Targets
0.02Suggestive
progeroid syndromeOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
liver cancerOpen Targets
0.01Suggestive
myocardial infarctionOpen Targets
0.01Suggestive
Ruijs-Aalfs syndromeUniProt
Pathogenic Variants4
NM_032018.7(SPRTN):c.1246_1247del (p.Val416fs)Likely pathogenic
Oligospermia;Reduced sperm motility;Abnormal sperm morphology
β˜…β˜†β˜†β˜†β†’ Residue 416
NM_032018.7(SPRTN):c.718_718+3delPathogenic
Progeroid features-hepatocellular carcinoma predisposition syndrome|not provided
β˜…β˜†β˜†β˜†
NM_032018.7(SPRTN):c.350A>G (p.Tyr117Cys)Pathogenic
Progeroid features-hepatocellular carcinoma predisposition syndrome
β˜†β˜†β˜†β˜†2014β†’ Residue 117
NM_032018.7(SPRTN):c.723del (p.Lys241fs)Pathogenic
Progeroid features-hepatocellular carcinoma predisposition syndrome
β˜†β˜†β˜†β˜†2014β†’ Residue 241
View on ClinVar β†—
Related Genes
POLD1Protein interaction100%UBCProtein interaction97%RPA2Protein interaction93%PPP2R3AProtein interaction83%PPP2R3BProtein interaction83%TPTE2Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
52%
Heart
50%
Liver
30%
Lung
27%
Ovary
23%
Gene Interaction Network
Click a node to explore
SPRTNPOLD1UBCRPA2PPP2R3APPP2R3BTPTE2
PROTEIN STRUCTURE
Preparing viewer…
PDB6MDW Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.53Moderately Constrained
pLIβ“˜
0.95Intolerant
Observed/Expected LoF0.32 [0.20–0.53]
RankingsWhere SPRTN stands among ~20K protein-coding genes
  • #8,499of 20,598
    Most Researched53
  • #3,792of 5,498
    Most Pathogenic Variants4
  • #3,333of 17,882
    Most Constrained (LOEUF)0.53 Β· top quartile
Genes detectedSPRTN
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
SPRTN and TDP1/TDP2 Independently Suppress 5-Aza-2'-deoxycytidine-Induced Genomic Instability in Human TK6 Cell Line.
PMID: 36282523
Chem Res Toxicol Β· 2022
1.00
2
TEX264 coordinates p97- and SPRTN-mediated resolution of topoisomerase 1-DNA adducts.
PMID: 32152270
Nat Commun Β· 2020
0.90
3
DNA-protein cross-links promote cGAS-STING-driven premature aging and embryonic lethality.
PMID: 41610251
Science Β· 2026
0.80
4
Function and evolution of the DNA-protein crosslink proteases Wss1 and SPRTN.
PMID: 32058279
DNA Repair (Amst) Β· 2020
0.70
5
Allosteric activation of the SPRTN protease by ubiquitin maintains genome stability.
PMID: 40691134
Nat Commun Β· 2025
0.60