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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SHPRH
SNF2 histone linker PHD RING helicase
Chromosome 6 · 6q24.3
NCBI Gene: 257218Ensembl: ENSG00000146414.18HGNC: HGNC:19336UniProt: B3KX98
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA damage responseubiquitin-protein transferase activityprotein bindingubiquitin protein ligase bindingneurodegenerative diseasetype 2 diabetes mellitusAbnormality of the skeletal systemneoplasm
✦AI Summary

SHPRH (SNF2 histone linker PHD RING helicase) is an E3 ubiquitin-protein ligase located on chromosome 6 that plays critical roles in DNA damage tolerance and repair. Upon genotoxic stress, SHPRH accepts ubiquitin from the UBE2N-UBE2V2 E2 complex and transfers it to monoubiquitinated PCNA, promoting non-canonical Lys-63-linked polyubiquitin chains that facilitate error-free DNA damage tolerance 1. SHPRH exhibits lesion-type-specific functions: it regulates checkpoint kinase 2 (CHK2) activation and MCM2 expression following alkylating agent damage, and interacts with the mismatch repair protein MLH1 through a conserved motif 2, 3. While the full-length protein mediates DNA repair, circular RNA-derived SHPRH-146aa protein product upregulates P21 to inhibit CDK activity and suppress tumor growth in neuroblastoma 4. Beyond its canonical repair functions, circRNA circ-SHPRH acts as a tumor suppressor across multiple cancer types by sponging microRNAs and promoting apoptosis, with elevated expression correlating with improved overall survival (HR=0.53) and lower TNM staging 5, 6. These diverse roles position SHPRH as both a DNA repair factor and potential diagnostic/prognostic biomarker in human cancers.

Sources cited
1
SHPRH facilitates error-free DNA damage tolerance through the Rad5-dependent post-replicative repair pathway
PMID: 20096653
2
SHPRH interacts with MLH1 through a conserved Mlh1-interacting motif and affects cellular resistance to alkylating agents
PMID: 35784486
3
SHPRH regulates CHK2 activation and MCM2 expression in response to DNA damage, with lesion-type-specific functions
PMID: 32192191
4
SHPRH-146aa protein product encoded by circ-SHPRH upregulates P21 to inhibit CDKs and suppress neuroblastoma tumor growth
PMID: 39002691
5
CircRNA circ-SHPRH acts as tumor suppressor with high expression correlating to improved overall survival (HR=0.53) and lower TNM stage (HR=0.33)
PMID: 37305675
6
Circ-SHPRH functions as tumor suppressor by sponging miRNAs and has potential as diagnostic/prognostic biomarker across multiple cancer types
PMID: 34285509
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.45Moderate
type 2 diabetes mellitusOpen Targets
0.23Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
neoplasmOpen Targets
0.09Suggestive
Nijmegen breakage syndromeOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
delta-beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PCNAProtein interaction100%REV3LProtein interaction99%UBE2BProtein interaction99%UBE2NProtein interaction99%UBE2V2Protein interaction99%RAD18Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
100%
Brain
66%
Heart
57%
Lung
39%
Liver
29%
Gene Interaction Network
Click a node to explore
SHPRHPCNAREV3LUBE2BUBE2NUBE2V2RAD18
PROTEIN STRUCTURE
Preparing viewer…
PDB4QN1 · 2.48 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.42–0.59]
RankingsWhere SHPRH stands among ~20K protein-coding genes
  • #8,133of 20,598
    Most Researched56
  • #4,055of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedSHPRH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Circ-SHPRH in human cancers: a systematic review and meta-analysis.
PMID: 37305675
Front Cell Dev Biol · 2023
1.00
2
Rad5 and Its Human Homologs, HLTF and SHPRH, Are Novel Interactors of Mismatch Repair.
PMID: 35784486
Front Cell Dev Biol · 2022
0.90
3
The Human RAD5 Homologs, HLTF and SHPRH, Have Separate Functions in DNA Damage Tolerance Dependent on The DNA Lesion Type.
PMID: 32192191
Biomolecules · 2020
0.80
4
Role of yeast Rad5 and its human orthologs, HLTF and SHPRH in DNA damage tolerance.
PMID: 20096653
DNA Repair (Amst) · 2010
0.70
5
Therapeutic SHPRH-146aa encoded by circ-SHPRH dynamically upregulates P21 to inhibit CDKs in neuroblastoma.
PMID: 39002691
Cancer Lett · 2024
0.60