PPP1R1A
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Summary
PPP1R1A (protein phosphatase 1 regulatory inhibitor subunit 1A, HGNC:9286) is a protein-coding gene on chromosome 12q13.2, encoding Protein phosphatase 1 regulatory subunit 1A (Q13522). Inhibitor of protein-phosphatase 1.
Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. Predicted to be active in cytoplasm.
Source: NCBI Gene 5502 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 32 total
- MANE Select transcript:
NM_006741
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9286 |
| Approved symbol | PPP1R1A |
| Name | protein phosphatase 1 regulatory inhibitor subunit 1A |
| Location | 12q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000135447 |
| Ensembl biotype | protein_coding |
| OMIM | 613246 |
| Entrez | 5502 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay
ENST00000257905, ENST00000547431, ENST00000547826, ENST00000553113, ENST00000854646, ENST00000854647, ENST00000854648, ENST00000968383
RefSeq mRNA: 1 — MANE Select: NM_006741
NM_006741
CCDS: CCDS44912
Canonical transcript exons
ENST00000257905 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000920062 | 54582732 | 54582795 |
| ENSE00001147254 | 54588405 | 54588659 |
| ENSE00001532225 | 54579246 | 54580392 |
| ENSE00003301465 | 54583211 | 54583248 |
| ENSE00003357522 | 54584260 | 54584320 |
| ENSE00003503573 | 54581976 | 54582131 |
| ENSE00003595669 | 54580944 | 54581050 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 99.65.
FANTOM5 (CAGE): breadth broad, TPM avg 20.1124 / max 1217.8638, expressed in 503 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131363 | 12.4198 | 483 |
| 131362 | 6.7505 | 419 |
| 131361 | 0.4808 | 181 |
| 131364 | 0.3919 | 134 |
| 131366 | 0.0424 | 18 |
| 131365 | 0.0269 | 15 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| triceps brachii | UBERON:0001509 | 99.65 | gold quality |
| diaphragm | UBERON:0001103 | 99.47 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.41 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.35 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.23 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.18 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.10 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.03 | gold quality |
| biceps brachii | UBERON:0001507 | 99.01 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.99 | gold quality |
| body of tongue | UBERON:0011876 | 98.84 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.79 | gold quality |
| renal medulla | UBERON:0000362 | 98.70 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.34 | gold quality |
| putamen | UBERON:0001874 | 98.32 | gold quality |
| type B pancreatic cell | CL:0000169 | 98.23 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.19 | gold quality |
| muscle organ | UBERON:0001630 | 98.18 | gold quality |
| muscle of leg | UBERON:0001383 | 97.86 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 97.76 | gold quality |
| apex of heart | UBERON:0002098 | 97.71 | gold quality |
| adipose tissue | UBERON:0001013 | 97.69 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.64 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 97.61 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.60 | gold quality |
| deltoid | UBERON:0001476 | 97.49 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.18 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.01 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.82 | gold quality |
| globus pallidus | UBERON:0001875 | 96.74 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11121 | yes | 848.57 |
| E-MTAB-5061 | yes | 28.48 |
| E-HCAD-31 | yes | 24.43 |
| E-GEOD-81547 | yes | 16.39 |
| E-MTAB-9388 | yes | 12.16 |
| E-GEOD-83139 | yes | 9.00 |
| E-HCAD-5 | yes | 8.68 |
| E-ANND-3 | yes | 7.37 |
| E-GEOD-81608 | no | 166.45 |
| E-CURD-10 | no | 28.32 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
74 targeting PPP1R1A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
Literature-anchored findings (GeneRIF, showing 10)
- multiple domains in I-1 target cellular PP1 complexes, and I-1 has a role as a cellular regulator of eIF2alpha phosphorylation (PMID:15345721)
- G147D PPI-1 can attenuate responses of cardiomyocytes to beta-adrenergic agonists by decreasing PLN phosphorylation and therefore may contribute to deteriorated function in heart failure. (PMID:18192322)
- the human inhibitor-1 G147D polymorphism, found almost exclusively in blacks, may act as a modifier rather than risk factor in heart failure development (PMID:18698139)
- I-1 and sarco/endoplasmic reticulum Ca2+ -ATPase synergistically induce the vascular smooth muscle cell contractile phenotype. (PMID:24249716)
- These findings suggest that the human G109E inhibitor-1 variant impairs sarcoplasmic reticulum Ca-cycling and promotes arrhythmogenesis under stress conditions. (PMID:26455482)
- High PPP1R1A expression is associated with ewing sarcoma tumorigenesis and metastasis. (PMID:29059150)
- HOXC-AS3 is aberrantly overexpressed in breast cancers especially the HER2+ type. High expression of HOXC-AS3 has a relationship with poor clinical outcomes of breast cancer. HOXC-AS3 regulates cell invasion and migration both in vitro and in vivo. Results demonstrated that miR-3922-5p was a direct target of HOXC-AS3, and PPP1R1A was a target of miR-3922-5p in breast cancer. (PMID:31797701)
- The MafA-target gene PPP1R1A regulates GLP1R-mediated amplification of glucose-stimulated insulin secretion in beta-cells. (PMID:33631146)
- Exploring prognostic value and regulation network of PPP1R1A in hepatocellular carcinoma. (PMID:36018458)
- Unraveling the significance of PPP1R1A gene in pancreatic beta-cell function: A study in INS-1 cells and human pancreatic islets. (PMID:38574885)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ppp1r1a | ENSMUSG00000022490 |
| rattus_norvegicus | Ppp1r1a | ENSRNOG00000036827 |
Paralogs (2): PPP1R1B (ENSG00000131771), PPP1R1C (ENSG00000150722)
Protein
Protein identifiers
Protein phosphatase 1 regulatory subunit 1A — Q13522 (reviewed: Q13522)
Alternative names: Protein phosphatase inhibitor 1
All UniProt accessions (4): Q13522, F8VR76, H0YIU4, R4GMQ8
UniProt curated annotations — full annotation on UniProt →
Function. Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins that are not directly phosphorylated by PKA. Following a rise in intracellular calcium, I-1 is inactivated by calcineurin (or PP2B). Does not inhibit type-2 phosphatases.
Subunit / interactions. Interacts with PPP1R15A.
Post-translational modifications. Phosphorylation of Thr-35 is required for activity.
Similarity. Belongs to the protein phosphatase inhibitor 1 family.
RefSeq proteins (1): NP_006732* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008466 | PPP1R1A/B/C | Family |
Pfam: PF05395
UniProt features (19 total): modified residue 6, region of interest 4, sequence variant 2, mutagenesis site 2, sequence conflict 2, compositionally biased region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13522-F1 | 67.33 | 0.09 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 46, 47, 67, 1, 35, 43
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 35 | no activity. |
| 35 | 1000-fold reduction in activity, inhibits equally pp1 and pp2a. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 122 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, MORF_MSH3, MORF_BRCA1, SMID_BREAST_CANCER_RELAPSE_IN_LIVER_UP, SMID_BREAST_CANCER_RELAPSE_IN_LUNG_DN, MORF_RAD51L3, XU_HGF_SIGNALING_NOT_VIA_AKT1_48HR_UP, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, WEI_MYCN_TARGETS_WITH_E_BOX, BLALOCK_ALZHEIMERS_DISEASE_UP, CAIRO_HEPATOBLASTOMA_DN, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, HOSHIDA_LIVER_CANCER_LATE_RECURRENCE_DN, NAKAYAMA_SOFT_TISSUE_TUMORS_PCA2_DN, DOUGLAS_BMI1_TARGETS_UP
GO Biological Process (3): glycogen metabolic process (GO:0005977), intracellular signal transduction (GO:0035556), signal transduction (GO:0007165)
GO Molecular Function (3): protein serine/threonine phosphatase inhibitor activity (GO:0004865), protein phosphatase inhibitor activity (GO:0004864), protein binding (GO:0005515)
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular anatomical structure | 2 |
| energy reserve metabolic process | 1 |
| glucan metabolic process | 1 |
| signal transduction | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| protein serine/threonine phosphatase activity | 1 |
| protein phosphatase inhibitor activity | 1 |
| phosphoprotein phosphatase activity | 1 |
| phosphatase inhibitor activity | 1 |
| protein phosphatase regulator activity | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
794 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP1R1A | PPP1R2 | P41236 | 887 |
| PPP1R1A | PPP1CC | P36873 | 764 |
| PPP1R1A | PPP1R3A | Q16821 | 669 |
| PPP1R1A | PRKCI | P41743 | 649 |
| PPP1R1A | PPP1CA | P08129 | 617 |
| PPP1R1A | PPP1CB | P37140 | 607 |
| PPP1R1A | CSRP3 | P50461 | 567 |
| PPP1R1A | GYS1 | P13807 | 543 |
| PPP1R1A | AKAP7 | O43687 | 540 |
| PPP1R1A | PRKCA | P17252 | 477 |
| PPP1R1A | LRATD1 | Q96KN4 | 467 |
| PPP1R1A | PPP2CA | P05323 | 463 |
| PPP1R1A | PPP1R15A | O75807 | 458 |
| PPP1R1A | NAP1L2 | Q9ULW6 | 427 |
| PPP1R1A | PNPLA4 | P41247 | 425 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SPEM1 | PPP1R1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| RRAGA | NPC2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC25A11 | POTEI | psi-mi:“MI:0914”(association) | 0.530 |
| PPP1R1A | ACTA1 | psi-mi:“MI:0914”(association) | 0.530 |
| PPP1R1A | PPP1R15A | psi-mi:“MI:0915”(physical association) | 0.510 |
| PPP1R15A | PPP1R1A | psi-mi:“MI:0915”(physical association) | 0.510 |
| PPP1R1A | GLC7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FGL1 | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| ZPBP2 | PROS1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A11 | YES1 | psi-mi:“MI:0914”(association) | 0.350 |
| SPEM1 | PRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP1R1A | ACTA2 | psi-mi:“MI:0914”(association) | 0.350 |
| PRMT6 | TFCP2 | psi-mi:“MI:0914”(association) | 0.350 |
| PRMT6 | TP73 | psi-mi:“MI:0914”(association) | 0.350 |
| ZPBP2 | PPP1R1A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (33): PPP1R15A (Two-hybrid), PPP1R15A (Reconstituted Complex), PPP1CA (Reconstituted Complex), PPP1CB (Reconstituted Complex), PPP1CC (Reconstituted Complex), PPP1R15A (Affinity Capture-Western), PPP1R1A (Affinity Capture-MS), PPP1R1A (Affinity Capture-MS), PPP1R1A (Affinity Capture-MS), PPP1R1A (Affinity Capture-MS), PPP1R1A (Affinity Capture-MS), PPP1R1A (Affinity Capture-MS), PPP1R1A (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), ACTA1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GUA9, A0A1B0GV96, A4IFJ0, B3DGJ2, O43687, O55074, O70139, O75167, P04370, P0C8S0, P0C913, P0C914, P0CD96, P19103, P27775, P49342, P61925, P61926, P62025, P63248, P63249, Q04758, Q13522, Q29026, Q3SX13, Q3T0A6, Q3ZB98, Q4VC05, Q5FVI4, Q5R6X9, Q64256, Q6P3A1, Q71U53, Q7M2N1, Q7YQJ3, Q7YQJ4, Q8N111, Q8R409, Q8TAD7, Q8WMS3
Diamond homologs: P01099, P07516, P19103, Q13522, Q29277, Q5R853, Q60829, Q6J4I0, Q8BKK4, Q8WMS3, Q8WVI7, Q9ERT9, Q9UD71
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PPP3CB | unknown | PPP1R1A | dephosphorylation |
| PPP3CC | unknown | PPP1R1A | dephosphorylation |
| PPP2CB | unknown | PPP1R1A | dephosphorylation |
| PPP2CA | unknown | PPP1R1A | dephosphorylation |
| PPP3CA | unknown | PPP1R1A | dephosphorylation |
| CDK5 | unknown | PPP1R1A | phosphorylation |
| Calcineurin | unknown | PPP1R1A | dephosphorylation |
| PP2B | unknown | PPP1R1A | dephosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1287 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:54575628:GATAG:G | donor_gain | 1.0000 |
| 12:54575985:A:AG | acceptor_gain | 1.0000 |
| 12:54575985:ACT:A | acceptor_gain | 1.0000 |
| 12:54575986:C:G | acceptor_gain | 1.0000 |
| 12:54575987:T:A | acceptor_gain | 1.0000 |
| 12:54575988:GCAGG:G | acceptor_loss | 1.0000 |
| 12:54575990:A:AG | acceptor_gain | 1.0000 |
| 12:54575990:AG:A | acceptor_gain | 1.0000 |
| 12:54575991:G:GG | acceptor_gain | 1.0000 |
| 12:54575991:GG:G | acceptor_gain | 1.0000 |
| 12:54576099:AGG:A | donor_loss | 1.0000 |
| 12:54576100:GGT:G | donor_loss | 1.0000 |
| 12:54576101:G:GG | donor_gain | 1.0000 |
| 12:54576102:T:G | donor_loss | 1.0000 |
| 12:54576665:GAGAA:G | donor_gain | 1.0000 |
| 12:54576682:G:GT | donor_gain | 1.0000 |
| 12:54576687:A:T | donor_gain | 1.0000 |
| 12:54576699:GTG:G | donor_gain | 1.0000 |
| 12:54577212:T:G | acceptor_gain | 1.0000 |
| 12:54577212:T:TA | acceptor_gain | 1.0000 |
| 12:54577221:A:AG | acceptor_gain | 1.0000 |
| 12:54577221:ACAG:A | acceptor_gain | 1.0000 |
| 12:54577222:C:G | acceptor_gain | 1.0000 |
| 12:54577223:A:AG | acceptor_gain | 1.0000 |
| 12:54577223:AG:A | acceptor_gain | 1.0000 |
| 12:54577224:G:GC | acceptor_gain | 1.0000 |
| 12:54577224:GG:G | acceptor_gain | 1.0000 |
| 12:54577224:GGC:G | acceptor_gain | 1.0000 |
| 12:54577224:GGCA:G | acceptor_gain | 1.0000 |
| 12:54577224:GGCAT:G | acceptor_gain | 1.0000 |
AlphaMissense
1110 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:54588453:G:C | F12L | 1.000 |
| 12:54588453:G:T | F12L | 1.000 |
| 12:54588455:A:G | F12L | 1.000 |
| 12:54584308:G:T | R33S | 0.999 |
| 12:54584311:G:T | R32S | 0.999 |
| 12:54584319:A:G | I29T | 0.999 |
| 12:54588454:A:C | F12C | 0.999 |
| 12:54588454:A:G | F12S | 0.999 |
| 12:54588460:A:G | I10T | 0.999 |
| 12:54584295:G:T | A37D | 0.998 |
| 12:54584305:G:A | P34S | 0.998 |
| 12:54588460:A:C | I10S | 0.998 |
| 12:54584305:G:T | P34T | 0.997 |
| 12:54584308:G:C | R33G | 0.997 |
| 12:54584319:A:C | I29S | 0.997 |
| 12:54584304:G:T | P34H | 0.996 |
| 12:54584310:C:G | R32P | 0.996 |
| 12:54584311:G:C | R32G | 0.996 |
| 12:54588455:A:C | F12V | 0.996 |
| 12:54588460:A:T | I10N | 0.996 |
| 12:54584319:A:T | I29N | 0.995 |
| 12:54588416:C:G | A25P | 0.994 |
| 12:54588455:A:T | F12I | 0.994 |
| 12:54584298:G:T | P36H | 0.993 |
| 12:54584312:C:A | R31S | 0.993 |
| 12:54584312:C:G | R31S | 0.993 |
| 12:54584316:C:G | R30P | 0.993 |
| 12:54584317:G:C | R30G | 0.993 |
| 12:54584289:A:G | L39P | 0.991 |
| 12:54588413:C:G | A26P | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000213696 (12:54578918 T>A), RS1000269044 (12:54585543 C>T), RS1000689083 (12:54584381 C>A), RS1000883350 (12:54584796 C>A,T), RS1001010961 (12:54590335 A>AC), RS1001545188 (12:54585008 T>C), RS1001645081 (12:54581351 C>A,T), RS1001826802 (12:54585252 C>A,T), RS1002437358 (12:54585898 A>C,G), RS1002604772 (12:54589742 A>G), RS1002622049 (12:54589519 A>C), RS1003096630 (12:54589155 C>G), RS1003315632 (12:54582871 C>T), RS1003334727 (12:54588263 C>G,T), RS1003618226 (12:54588590 G>C,T)
Disease associations
OMIM: gene MIM:613246 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): rosette-forming glioneuronal tumor of fourth ventricule (MONDO:0016736)
Orphanet (1): Rosette-forming glioneuronal tumor (Orphanet:251975)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008151_10 | Waist circumference | 6.000000e-06 |
| GCST008157_23 | Body fat mass | 8.000000e-06 |
| GCST008160_55 | Waist circumference | 6.000000e-06 |
| GCST008162_15 | Hip circumference | 3.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
Binding affinities (BindingDB)
8 measured of 12 human assays (12 total across all organisms); most potent 8 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| Calyculinamide A (18) | IC50 | 5 nM |
| C1/C34-Calyculin A (15) | IC50 | 9 nM |
| Des-N-methylcalyculin A (20) | IC50 | 11 nM |
| Calyculin A 21-acetate (13) | IC50 | 13 nM |
| Hemicalyculin A (5) | IC50 | 14 nM |
| Calyculin C (24) | IC50 | 29 nM |
| Calyculin J (14) | IC50 | 105 nM |
| Calyculin A (4) | IC50 | 112 nM |
PubChem BioAssay actives
11 with measured affinity, of 15 total; 8 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| [(2R,3R,7R,8S)-2-[(1S,3S,5R,7E,9E,11E,13E)-15-amino-3,5-dihydroxy-1-methoxy-4,6,8,9,13-pentamethyl-15-oxopentadeca-7,9,11,13-tetraenyl]-9-[(E)-3-[2-[4-[[(2S,4S)-4-(dimethylamino)-2,3-dihydroxy-5-methoxypentanoyl]amino]butan-2-yl]-1,3-oxazol-4-yl]prop-2-enyl]-7-hydroxy-4,4,8-trimethyl-1,10-dioxaspiro[4.5]decan-3-yl] dihydrogen phosphate | 1799476: Inhibition Assay from Article 10.1016/S1074-5521(02)00118-7: “Insight into binding of calyculin A to protein phosphatase 1: isolation of hemicalyculin a and chemical transformation of calyculin A.” | ic50 | 0.0050 | uM |
| [(2R,3R,7R,8S)-2-[(1S,3S,5R,7E,9E,11E,13E)-14-cyano-3,5-dihydroxy-1-methoxy-4,6,8,9,13-pentamethyltetradeca-7,9,11,13-tetraenyl]-9-[(E)-3-[2-[4-[[(2S,4S)-4-(dimethylamino)-2,3-dihydroxy-5-methoxypentanoyl]amino]butan-2-yl]-1,3-oxazol-4-yl]prop-2-enyl]-7-hydroxy-4,4,8-trimethyl-1,10-dioxaspiro[4.5]decan-3-yl] dihydrogen phosphate | 1799476: Inhibition Assay from Article 10.1016/S1074-5521(02)00118-7: “Insight into binding of calyculin A to protein phosphatase 1: isolation of hemicalyculin a and chemical transformation of calyculin A.” | ic50 | 0.0082 | uM |
| [(2R,3R,7R,8S)-2-[(1S,3S,5R,7E,9E,11E,13E)-14-cyano-3,5-dihydroxy-1-methoxy-4,6,8,9,13-pentamethyltetradeca-7,9,11,13-tetraenyl]-7-hydroxy-9-[(E)-3-[2-[4-[(2-hydroxyacetyl)amino]butan-2-yl]-1,3-oxazol-4-yl]prop-2-enyl]-4,4,8-trimethyl-1,10-dioxaspiro[4.5]decan-3-yl] dihydrogen phosphate | 1799476: Inhibition Assay from Article 10.1016/S1074-5521(02)00118-7: “Insight into binding of calyculin A to protein phosphatase 1: isolation of hemicalyculin a and chemical transformation of calyculin A.” | ic50 | 0.0090 | uM |
| [(2R,3R,7R,8S)-2-[(1S,3S,5R,7E,9E,11E,13E)-14-cyano-3,5-dihydroxy-1-methoxy-4,6,8,9,13-pentamethyltetradeca-7,9,11,13-tetraenyl]-9-[(E)-3-[2-[4-[[(2S,4S)-2,3-dihydroxy-5-methoxy-4-(methylamino)pentanoyl]amino]butan-2-yl]-1,3-oxazol-4-yl]prop-2-enyl]-7-hydroxy-4,4,8-trimethyl-1,10-dioxaspiro[4.5]decan-3-yl] dihydrogen phosphate | 1799476: Inhibition Assay from Article 10.1016/S1074-5521(02)00118-7: “Insight into binding of calyculin A to protein phosphatase 1: isolation of hemicalyculin a and chemical transformation of calyculin A.” | ic50 | 0.0110 | uM |
| [(2R,3R,7R,8R)-2-[(1S,3S,5R,7E,9E,11E,13E)-14-cyano-3,5-dihydroxy-1-methoxy-4,6,8,9,13-pentamethyltetradeca-7,9,11,13-tetraenyl]-9-[(E)-3-[2-[4-[[(2S,4S)-4-(dimethylamino)-2,3-dihydroxy-5-methoxypentanoyl]amino]butan-2-yl]-1,3-oxazol-4-yl]prop-2-enyl]-4,4,8-trimethyl-3-phosphonooxy-1,10-dioxaspiro[4.5]decan-7-yl] acetate | 1799476: Inhibition Assay from Article 10.1016/S1074-5521(02)00118-7: “Insight into binding of calyculin A to protein phosphatase 1: isolation of hemicalyculin a and chemical transformation of calyculin A.” | ic50 | 0.0130 | uM |
| [(2R,3R,7R,8S)-2-[(1S,3S,5R,7E,9E,11E,13E)-14-cyano-3,5-dihydroxy-1-methoxy-4,6,8,9,13-pentamethyltetradeca-7,9,11,13-tetraenyl]-9-[(E)-3-cyanoprop-2-enyl]-7-hydroxy-4,4,8-trimethyl-1,10-dioxaspiro[4.5]decan-3-yl] dihydrogen phosphate | 1799476: Inhibition Assay from Article 10.1016/S1074-5521(02)00118-7: “Insight into binding of calyculin A to protein phosphatase 1: isolation of hemicalyculin a and chemical transformation of calyculin A.” | ic50 | 0.0140 | uM |
| [(2R,3R,7R,8S)-2-[(1S,3S,5R,7E,9E,11E,13E)-14-cyano-3,5-dihydroxy-1-methoxy-4,6,8,9,13-pentamethyltetradeca-7,9,11,13-tetraenyl]-9-[(E)-3-[2-[4-[[(2S,4S)-4-(dimethylamino)-2,3-dihydroxy-5-methoxypentanoyl]amino]pentan-2-yl]-1,3-oxazol-4-yl]prop-2-enyl]-7-hydroxy-4,4,8-trimethyl-1,10-dioxaspiro[4.5]decan-3-yl] dihydrogen phosphate | 1799476: Inhibition Assay from Article 10.1016/S1074-5521(02)00118-7: “Insight into binding of calyculin A to protein phosphatase 1: isolation of hemicalyculin a and chemical transformation of calyculin A.” | ic50 | 0.0290 | uM |
| [(2R,3R)-2-[(1S,3S)-4-[(3S,4R)-4-bromo-5-[(2E,4E,6E)-7-cyano-6-methylhepta-2,4,6-trien-2-yl]-3,5-dimethyloxolan-2-yl]-3-hydroxy-1-methoxypentyl]-5-[(E)-4-[2-[4-[[(2S,4S)-4-(dimethylamino)-2,3-dihydroxy-5-methoxypentanoyl]amino]butan-2-yl]-1,3-oxazol-4-yl]but-3-enoxy]-5-[(2S)-2-hydroxybutyl]-4,4-dimethyloxolan-3-yl] dihydrogen phosphate | 1799476: Inhibition Assay from Article 10.1016/S1074-5521(02)00118-7: “Insight into binding of calyculin A to protein phosphatase 1: isolation of hemicalyculin a and chemical transformation of calyculin A.” | ic50 | 0.1050 | uM |
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 4 |
| Valproic Acid | affects cotreatment, increases expression, affects expression | 4 |
| bisphenol A | affects cotreatment, increases methylation, increases expression | 3 |
| Acetaminophen | decreases expression, increases expression | 3 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 3 |
| mercuric bromide | affects cotreatment, decreases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Dexamethasone | increases expression, affects cotreatment | 2 |
| Estradiol | increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Triclosan | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | increases expression | 1 |
| terbufos | increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| entinostat | increases expression, affects cotreatment | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Troglitazone | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TF70 | HAP1 PPP1R1A (-) 1 | Cancer cell line | Male |
| CVCL_TF71 | HAP1 PPP1R1A (-) 2 | Cancer cell line | Male |
| CVCL_TF72 | HAP1 PPP1R1A (-) 3 | Cancer cell line | Male |
| CVCL_TF73 | HAP1 PPP1R1A (-) 4 | Cancer cell line | Male |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03975829 | PHASE4 | RECRUITING | Pediatric Long-Term Follow-up and Rollover Study |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): rosette-forming glioneuronal tumor of fourth ventricule