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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPP1R7
protein phosphatase 1 regulatory subunit 7
Chromosome 2 · 2q37.3
NCBI Gene: 5510Ensembl: ENSG00000115685.16HGNC: HGNC:9295UniProt: A0A140VK83
81PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuschromosomeextracellular exosomeprotein phosphatase regulator activityprostate carcinomaneurodegenerative diseaseautism spectrum disordermetabolic syndrome
✦AI Summary

PPP1R7 (protein phosphatase 1 regulatory subunit 7) is a regulatory subunit that modulates protein phosphatase 1 (PP1) activity through direct protein-protein interactions mediated by 11 tandem leucine-rich repeats 1. PPP1R7 functions as a localization and substrate specificity factor for PP1, with cardiac tissue showing the highest PP1c binding affinity for PPP1R7 among all PP1 interactors 2. In sperm, PPP1R7 associates with the testis-specific PP1γ2 isoform during epididymal maturation, with dynamic binding changes regulating sperm motility development 3. The human PPP1R7 gene spans 33 kb on chromosome 2 with 11 exons generating up to four different protein isoforms through alternative splicing 1. PPP1R7 is ubiquitously expressed across cancer cell lines, though somatic mutations and polymorphisms suggest involvement in multistep carcinogenesis 4. Cardiac-specific PPP1R7 knockdown causes dysfunction and disrupted sarcoplasmic reticulum calcium release, indicating essential roles in heart function 2. In ionizing radiation responses, phosphorylation at serine 12 (S12-PPP1R7) represents a novel phospho-signaling mode regulating mitotic exit and G2/M checkpoint control 5. PPP1R7 has been identified as a fusion partner in rare acute myeloid leukemia cases with t(2;16) translocation 6.

Sources cited
1
PPP1R7 has the highest binding to PP1c in cardiac tissue and cardiac-specific knockdown causes cardiac dysfunction and disrupted calcium release
PMID: 29669786
2
PPP1R7 (human sds22) gene structure, leucine-rich repeat composition, and splice variants generating multiple protein isoforms
PMID: 10231361
3
PPP1R7 is a PP1γ2 inhibitor/regulator expressed in testis and sperm, with dynamic binding changes during epididymal sperm maturation
PMID: 30144392
4
PPP1R7 is ubiquitously expressed in cancer cell lines with somatic mutations detected in 4% of lines, suggesting involvement in carcinogenesis
PMID: 11251179
5
S12-PPP1R7 phosphorylation represents a novel phospho-signaling mode regulating mitotic exit and G2/M checkpoint in response to ionizing radiation
PMID: 36497055
6
PPP1R7 on chromosome 2q37 was rearranged with CBFB in a rare acute myeloid leukemia case via t(2;16) translocation
PMID: 36011278
7
PPP1R7 is a candidate tumor suppressor gene located in the preferentially deleted region 2q37.3 in oral cancer
PMID: 16857411
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.20Weak
autism spectrum disorderOpen Targets
0.11Weak
metabolic syndromeOpen Targets
0.07Suggestive
carpal tunnel syndromeOpen Targets
0.06Suggestive
cornea transplantationOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
acute promyelocytic leukemiaOpen Targets
0.00Suggestive
hematopoietic and lymphoid cell neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CENPLShared pathway100%CENPUShared pathway100%CCDC86Shared pathway100%CENPMShared pathway100%PPP1CCProtein interaction100%PPP1CBProtein interaction99%
Tissue Expression6 tissues
Brain
100%
Heart
84%
Liver
58%
Bone Marrow
56%
Lung
53%
Ovary
39%
Gene Interaction Network
Click a node to explore
PPP1R7CENPLCENPUCCDC86CENPMPPP1CCPPP1CB
PROTEIN STRUCTURE
Preparing viewer…
PDB6OBN · 2.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.91Intolerant
Observed/Expected LoF0.35 [0.23–0.54]
RankingsWhere PPP1R7 stands among ~20K protein-coding genes
  • #5,886of 20,598
    Most Researched81
  • #3,437of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedPPP1R7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Rearrangement of the Protein Phosphatase 1 Interactome During Heart Failure Progression.
PMID: 29669786
Circulation · 2018
1.00
2
Structure and splice products of the human gene encoding sds22, a putative mitotic regulator of protein phosphatase-1.
PMID: 10231361
Eur J Biochem · 1999
0.90
3
PMID: 36011278
Genes (Basel) · 2022
0.80
4
FOLFOX treatment response prediction in metastatic or recurrent colorectal cancer patients via machine learning algorithms.
PMID: 31893575
Cancer Med · 2020
0.70
5
Regulators of the protein phosphatase PP1γ2, PPP1R2, PPP1R7, and PPP1R11 are involved in epididymal sperm maturation.
PMID: 30144392
J Cell Physiol · 2019
0.60