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GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPP6R1
protein phosphatase 6 regulatory subunit 1
Chromosome 19 · 19q13.42
NCBI Gene: 22870Ensembl: ENSG00000105063.20HGNC: HGNC:29195UniProt: Q9UPN7
113PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosollamellipodiumsmall GTPase bindingneurodegenerative diseaseatopic eczemaintellectual developmental disorder, X-linked 110Autosomal dominant striatal neurodegeneration
✦AI Summary

PPP6R1 (protein phosphatase 6 regulatory subunit 1) is a regulatory subunit of the serine/threonine phosphatase PP6 that functions as a scaffolding component of the PP6 holoenzyme 1. The protein operates as part of a heterotrimer complex and is particularly abundant in hematopoietic cells and lymphoid tissues 1. Mechanistically, PPP6R1 participates in multiple signaling pathways. It functions redundantly with other PP6 regulatory subunits (PPP6R2 and PPP6R3) to promote RIPK1-dependent PANoptosis by enhancing pro-death S166 auto-phosphorylation of RIPK1 while reducing pro-survival S321 phosphorylation 2. Additionally, PPP6R1 interacts with Slfn2 to modulate NF-κB signaling and regulate type I interferon responses 3. The protein also associates with influenza A virus RNA-dependent RNA polymerase, supporting efficient viral replication 4. Clinically, PPP6R1 has relevance to multiple disease contexts. Mendelian randomization analysis identified PPP6R1 as causally linked to male infertility, with downregulation observed in germ cells of non-obstructive azoospermia patients, potentially influenced by endocrine-disrupting chemical exposure 5. PPP6R1 shows pleiotropic associations with cardiovascular traits 5. Copy number deletions in PPP6R1 have been identified as potential risk indicators for ventricular fibrillation during acute myocardial infarction 6. Loss of the functionally equivalent mouse ortholog SAPS1 increases radiosensitivity and impairs DNA damage responses 7, suggesting PPP6R1's role in cellular stress tolerance.

Sources cited
1
PPP6R1 is causally linked to male infertility via Mendelian randomization; downregulated in germ cells of NOA patients; associated with cardiovascular traits; targeted by multiple endocrine-disrupting chemicals
PMID: 40956397
2
PPP6R1 is a regulatory subunit of PP6 with redundant roles in promoting RIPK1-dependent PANoptosis through modulation of RIPK1 phosphorylation
PMID: 38807188
3
PPP6R1 is a PP6 regulatory subunit highly expressed in hematopoietic cells and lymphoid tissues; functions in negative control of NF-κB signaling
PMID: 28620030
4
PPP6R1 interacts with Slfn2 to reduce NF-κB signaling and type I interferon-induced ISG expression
PMID: 29866656
5
PPP6R1 is a PP6 regulatory subunit that interacts with influenza A virus RNA-dependent RNA polymerase and is required for efficient viral replication
PMID: 25187537
6
PPP6R1 copy number deletions identified as potential risk indicators for ventricular fibrillation in STEAMI
PMID: 38473795
7
SAPS1 (mouse ortholog of PPP6R1) deletion increases radiosensitivity and impairs cellular DNA damage responses
PMID: 31751917
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.45Moderate
atopic eczemaOpen Targets
0.05Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
Autosomal dominant striatal neurodegenerationOpen Targets
0.04Suggestive
glioblastomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
dementiaOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
male infertilityOpen Targets
0.00Suggestive
heart diseaseOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uveal MelanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HPCAL1Shared pathway100%VSNL1Shared pathway100%PPP6R2Shared pathway100%LRRIQ1Shared pathway100%DBNDD1Shared pathway100%AFAP1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
47%
Liver
33%
Ovary
30%
Heart
30%
Brain
30%
Gene Interaction Network
Click a node to explore
PPP6R1HPCAL1VSNL1PPP6R2LRRIQ1DBNDD1AFAP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UPN7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.31Tolerant
Observed/Expected LoF0.41 [0.32–0.53]
RankingsWhere PPP6R1 stands among ~20K protein-coding genes
  • #4,197of 20,598
    Most Researched113 · top quartile
  • #3,347of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedPPP6R1
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Endocrine disruptors and male infertility: multi-omics identification of key genes in non-obstructive azoospermia.
PMID: 40956397
J Assist Reprod Genet · 2025
1.00
2
The protein phosphatase PP6 promotes RIPK1-dependent PANoptosis.
PMID: 38807188
BMC Biol · 2024
0.88
3
Functions of protein phosphatase-6 in NF-κB signaling and in lymphocytes.
PMID: 28620030
Biochem Soc Trans · 2017
0.75
4
Slfn2 Regulates Type I Interferon Responses by Modulating the NF-κB Pathway.
PMID: 29866656
Mol Cell Biol · 2018
0.63
5
Selection and Validation of Reference Genes for Gene Expression Studies in an Equine Adipose-Derived Mesenchymal Stem Cell Differentiation Model by Proteome Analysis and Reverse-Transcriptase Quantitative Real-Time PCR.
PMID: 36980946
Genes (Basel) · 2023
0.50