PPP6R1
gene geneOn this page
Also known as SAP190
Summary
PPP6R1 (protein phosphatase 6 regulatory subunit 1, HGNC:29195) is a protein-coding gene on chromosome 19q13.42, encoding Serine/threonine-protein phosphatase 6 regulatory subunit 1 (Q9UPN7). Regulatory subunit of protein phosphatase 6 (PP6).
Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).
Source: NCBI Gene 22870 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 208 total
- Druggable target: yes
- MANE Select transcript:
NM_014931
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29195 |
| Approved symbol | PPP6R1 |
| Name | protein phosphatase 6 regulatory subunit 1 |
| Location | 19q13.42 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SAP190 |
| Ensembl gene | ENSG00000105063 |
| Ensembl biotype | protein_coding |
| OMIM | 610875 |
| Entrez | 22870 |
Gene structure
Transcript identifiers
Ensembl transcripts: 40 — 35 protein_coding, 5 retained_intron
ENST00000412770, ENST00000586690, ENST00000587283, ENST00000587457, ENST00000589343, ENST00000591323, ENST00000591602, ENST00000592242, ENST00000875996, ENST00000875997, ENST00000875998, ENST00000875999, ENST00000876000, ENST00000876001, ENST00000876002, ENST00000876003, ENST00000876004, ENST00000876005, ENST00000938391, ENST00000938392, ENST00000938393, ENST00000938394, ENST00000938395, ENST00000938396, ENST00000938397, ENST00000938398, ENST00000938399, ENST00000938400, ENST00000938401, ENST00000938402, ENST00000961708, ENST00000961709, ENST00000961710, ENST00000961711, ENST00000961712, ENST00000961713, ENST00000961714, ENST00000961715, ENST00000961716, ENST00000961717
RefSeq mRNA: 1 — MANE Select: NM_014931
NM_014931
CCDS: CCDS46186
Canonical transcript exons
ENST00000412770 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000728070 | 55245120 | 55245185 |
| ENSE00000728073 | 55242376 | 55242488 |
| ENSE00000856476 | 55236643 | 55236821 |
| ENSE00000856478 | 55239405 | 55239502 |
| ENSE00000856479 | 55239594 | 55239683 |
| ENSE00000856480 | 55239826 | 55239911 |
| ENSE00000856481 | 55239999 | 55240114 |
| ENSE00001179359 | 55245265 | 55245402 |
| ENSE00001249731 | 55232075 | 55232211 |
| ENSE00001432707 | 55246877 | 55247109 |
| ENSE00001433804 | 55245492 | 55245678 |
| ENSE00001758303 | 55258435 | 55259017 |
| ENSE00003552148 | 55242166 | 55242279 |
| ENSE00003558344 | 55231598 | 55231668 |
| ENSE00003578616 | 55230774 | 55230884 |
| ENSE00003580020 | 55230613 | 55230684 |
| ENSE00003588416 | 55231410 | 55231491 |
| ENSE00003597849 | 55229779 | 55230531 |
| ENSE00003633724 | 55241477 | 55241639 |
| ENSE00003643464 | 55240236 | 55240300 |
| ENSE00003652072 | 55236913 | 55236970 |
| ENSE00003653861 | 55240945 | 55241079 |
| ENSE00003668205 | 55241239 | 55241391 |
| ENSE00003673829 | 55231802 | 55231982 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 97.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.7630 / max 773.4901, expressed in 1821 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182767 | 31.2573 | 1816 |
| 182763 | 3.8269 | 1500 |
| 182761 | 0.9709 | 196 |
| 182766 | 0.6704 | 273 |
| 182765 | 0.2999 | 131 |
| 182764 | 0.2866 | 128 |
| 182760 | 0.2664 | 107 |
| 182759 | 0.1081 | 36 |
| 182758 | 0.0548 | 10 |
| 182757 | 0.0217 | 4 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 97.36 | gold quality |
| right testis | UBERON:0004534 | 97.27 | gold quality |
| granulocyte | CL:0000094 | 96.95 | gold quality |
| lymph node | UBERON:0000029 | 96.77 | gold quality |
| blood | UBERON:0000178 | 96.45 | gold quality |
| testis | UBERON:0000473 | 95.97 | gold quality |
| bone marrow | UBERON:0002371 | 95.94 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.49 | gold quality |
| spleen | UBERON:0002106 | 95.34 | gold quality |
| bone marrow cell | CL:0002092 | 95.28 | gold quality |
| leukocyte | CL:0000738 | 94.70 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.67 | gold quality |
| monocyte | CL:0000576 | 94.56 | gold quality |
| frontal cortex | UBERON:0001870 | 94.42 | gold quality |
| Ammon’s horn | UBERON:0001954 | 94.36 | gold quality |
| putamen | UBERON:0001874 | 94.23 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.23 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.18 | gold quality |
| right uterine tube | UBERON:0001302 | 94.10 | gold quality |
| temporal lobe | UBERON:0001871 | 94.07 | gold quality |
| amygdala | UBERON:0001876 | 94.05 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 93.95 | gold quality |
| cerebral cortex | UBERON:0000956 | 93.82 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.82 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.59 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.51 | gold quality |
| small intestine | UBERON:0002108 | 93.18 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.13 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.06 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.05 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.43 |
| E-MTAB-7381 | no | 646.25 |
| E-CURD-89 | no | 126.43 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
56 targeting PPP6R1, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
Literature-anchored findings (GeneRIF, showing 1)
- PP6 regulatory subunit R1 is bidentate anchor for targeting protein phosphatase-6 to DNA-dependent protein kinase. (PMID:22298787)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ppp6r1 | ENSMUSG00000052296 |
| rattus_norvegicus | Ppp6r1 | ENSRNOG00000018090 |
| drosophila_melanogaster | fmt | FBGN0035688 |
| caenorhabditis_elegans | WBGENE00008166 |
Paralogs (2): PPP6R2 (ENSG00000100239), PPP6R3 (ENSG00000110075)
Protein
Protein identifiers
Serine/threonine-protein phosphatase 6 regulatory subunit 1 — Q9UPN7 (reviewed: Q9UPN7)
Alternative names: SAPS domain family member 1
All UniProt accessions (2): Q9UPN7, K7EM28
UniProt curated annotations — full annotation on UniProt →
Function. Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF.
Subunit / interactions. Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed of the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with PPP6C and NFKBIE. Interacts with ANKRD28, ANKRD44 and ANKRD52.
Subcellular location. Cytoplasm.
Tissue specificity. Ubiquitous with higher expression in testis.
Similarity. Belongs to the SAPS family.
RefSeq proteins (1): NP_055746* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007587 | SAPS | Family |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
Pfam: PF04499
UniProt features (18 total): modified residue 11, compositionally biased region 4, region of interest 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UPN7-F1 | 67.96 | 0.43 |
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 (11): 530, 531, 635, 638, 702, 726, 759, 846, 232, 524, 529
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-204005 | COPII-mediated vesicle transport |
MSigDB gene sets: 139 (showing top):
TATTATA_MIR374, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, TTTGCAC_MIR19A_MIR19B, GOCC_LAMELLIPODIUM, GOMF_PROTEIN_PHOSPHATASE_BINDING, GOCC_CELL_LEADING_EDGE, GOMF_PHOSPHATASE_BINDING, GOMF_ENZYME_REGULATOR_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOMF_PHOSPHATASE_REGULATOR_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, PURBEY_TARGETS_OF_CTBP1_NOT_SATB1_UP, GHANDHI_DIRECT_IRRADIATION_UP, REACTOME_ER_TO_GOLGI_ANTEROGRADE_TRANSPORT
GO Biological Process (1): regulation of signal transduction (GO:0009966)
GO Molecular Function (4): protein phosphatase regulator activity (GO:0019888), protein phosphatase binding (GO:0019903), small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytosol (GO:0005829), lamellipodium (GO:0030027), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| signal transduction | 1 |
| regulation of cell communication | 1 |
| regulation of signaling | 1 |
| regulation of response to stimulus | 1 |
| phosphoprotein phosphatase activity | 1 |
| phosphatase regulator activity | 1 |
| protein phosphatase binding | 1 |
| phosphatase binding | 1 |
| GTPase binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cell leading edge | 1 |
| plasma membrane bounded cell projection | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1268 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP6R1 | PPP6C | O00743 | 992 |
| PPP6R1 | SF3B1 | O75533 | 924 |
| PPP6R1 | ANKRD28 | O15084 | 853 |
| PPP6R1 | NFKBIE | O00221 | 838 |
| PPP6R1 | ANKRD44 | Q8N8A2 | 774 |
| PPP6R1 | PPP2CA | P05323 | 764 |
| PPP6R1 | ANKRD52 | Q8NB46 | 683 |
| PPP6R1 | DPH3 | Q96FX2 | 683 |
| PPP6R1 | KTI12 | Q96EK9 | 637 |
| PPP6R1 | PPP4C | P33172 | 620 |
| PPP6R1 | ELP6 | Q0PNE2 | 551 |
| PPP6R1 | PPP4R2 | Q9NY27 | 519 |
| PPP6R1 | PPP4R4 | Q6NUP7 | 518 |
| PPP6R1 | PRKDC | P78527 | 510 |
| PPP6R1 | ZNF579 | Q8NAF0 | 504 |
IntAct
195 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP6C | PPP6R1 | psi-mi:“MI:0915”(physical association) | 0.920 |
| PPP6R1 | PPP6C | psi-mi:“MI:0914”(association) | 0.920 |
| PIK3CA | PIK3R2 | psi-mi:“MI:0914”(association) | 0.900 |
| PPP6C | ANKRD28 | psi-mi:“MI:0914”(association) | 0.870 |
| ANKRD28 | PPP6C | psi-mi:“MI:0914”(association) | 0.870 |
| PPP6R1 | ANKRD44 | psi-mi:“MI:0914”(association) | 0.800 |
| ANKRD52 | PPP6C | psi-mi:“MI:0914”(association) | 0.790 |
| ANKRD44 | PPP6C | psi-mi:“MI:0914”(association) | 0.790 |
| ANKRD28 | PPP6R1 | psi-mi:“MI:0914”(association) | 0.750 |
| ANKRD28 | PPP6R1 | psi-mi:“MI:0915”(physical association) | 0.750 |
| PPP6R1 | ANKRD28 | psi-mi:“MI:0915”(physical association) | 0.750 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
BioGRID (253): PPP6R1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Proximity Label-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Affinity Capture-MS), PPP6R1 (Proximity Label-MS), PPP6R1 (Affinity Capture-MS)
ESM2 similar proteins: A0A571BF63, A0A8M9QN10, A1L1K1, A1YER0, A2ARM1, A2AVJ5, A2CI98, A2CJ06, A2D5H2, A7YY97, B5DEB9, C9JE40, O00443, O43147, O43149, O93307, O95475, P59729, Q15475, Q2KHT9, Q32N92, Q4V7K4, Q5E9R0, Q5EB20, Q5PQS0, Q5R6T6, Q5RAY1, Q5RJH6, Q5U464, Q61194, Q62231, Q6AW68, Q6DGF9, Q6MZQ0, Q6TNU3, Q6ZUJ8, Q7TSI1, Q7TSI3, Q7Z3E5, Q80U12
Diamond homologs: O75170, Q5F471, Q5H9R7, Q6NRF1, Q6NRI0, Q7TSI3, Q8R3Q2, Q922D4, Q9UPN7, B5VMH6, C8ZCJ2, P36123, P40856
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 195 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Lysosphingolipid and LPA receptors | 5 | 30.4× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
208 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 162 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4283 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:55230611:A:AC | donor_gain | 1.0000 |
| 19:55230612:C:CC | donor_gain | 1.0000 |
| 19:55230769:CTCA:C | donor_loss | 1.0000 |
| 19:55230770:TCAC:T | donor_loss | 1.0000 |
| 19:55230771:CACCT:C | donor_loss | 1.0000 |
| 19:55230772:A:AC | donor_gain | 1.0000 |
| 19:55230773:C:A | donor_loss | 1.0000 |
| 19:55230773:C:CC | donor_gain | 1.0000 |
| 19:55230773:CCT:C | donor_gain | 1.0000 |
| 19:55230880:TTGCA:T | acceptor_gain | 1.0000 |
| 19:55230881:TGCA:T | acceptor_gain | 1.0000 |
| 19:55230883:CA:C | acceptor_gain | 1.0000 |
| 19:55230883:CACTG:C | acceptor_loss | 1.0000 |
| 19:55230885:C:CA | acceptor_loss | 1.0000 |
| 19:55230885:C:CC | acceptor_gain | 1.0000 |
| 19:55231487:AGGGG:A | acceptor_gain | 1.0000 |
| 19:55231488:GGGG:G | acceptor_gain | 1.0000 |
| 19:55231489:GGG:G | acceptor_gain | 1.0000 |
| 19:55231490:GG:G | acceptor_gain | 1.0000 |
| 19:55231492:C:CC | acceptor_gain | 1.0000 |
| 19:55231797:CTCA:C | donor_loss | 1.0000 |
| 19:55231798:TCAC:T | donor_loss | 1.0000 |
| 19:55231800:A:T | donor_loss | 1.0000 |
| 19:55231801:CCT:C | donor_loss | 1.0000 |
| 19:55236641:A:AC | donor_gain | 1.0000 |
| 19:55236642:C:CC | donor_gain | 1.0000 |
| 19:55236723:C:A | donor_gain | 1.0000 |
| 19:55236818:TGGG:T | acceptor_gain | 1.0000 |
| 19:55236911:A:AC | donor_gain | 1.0000 |
| 19:55236911:ACGTT:A | donor_gain | 1.0000 |
AlphaMissense
5798 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:55245323:A:G | L165P | 0.999 |
| 19:55245326:T:G | D164A | 0.999 |
| 19:55245335:G:T | A161D | 0.999 |
| 19:55245528:C:A | K126N | 0.999 |
| 19:55245528:C:G | K126N | 0.999 |
| 19:55245531:G:C | S125R | 0.999 |
| 19:55245531:G:T | S125R | 0.999 |
| 19:55245533:T:G | S125R | 0.999 |
| 19:55245537:G:C | F123L | 0.999 |
| 19:55245537:G:T | F123L | 0.999 |
| 19:55245539:A:G | F123L | 0.999 |
| 19:55245540:G:C | S122R | 0.999 |
| 19:55245540:G:T | S122R | 0.999 |
| 19:55245542:T:G | S122R | 0.999 |
| 19:55245652:A:G | L85P | 0.999 |
| 19:55245652:A:T | L85Q | 0.999 |
| 19:55245664:G:T | A81D | 0.999 |
| 19:55247095:C:A | W3C | 0.999 |
| 19:55247095:C:G | W3C | 0.999 |
| 19:55247097:A:G | W3R | 0.999 |
| 19:55247097:A:T | W3R | 0.999 |
| 19:55247098:A:C | F2L | 0.999 |
| 19:55247098:A:T | F2L | 0.999 |
| 19:55247100:A:G | F2L | 0.999 |
| 19:55245181:A:G | L186P | 0.998 |
| 19:55245326:T:C | D164G | 0.998 |
| 19:55245327:C:G | D164H | 0.998 |
| 19:55245530:T:C | K126E | 0.998 |
| 19:55245544:G:T | A121D | 0.998 |
| 19:55245652:A:C | L85R | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000127376 (19:55232946 C>T), RS1000142373 (19:55257063 T>A,C), RS1000146061 (19:55247819 A>G), RS1000312501 (19:55238692 C>T), RS1000342168 (19:55238959 T>C), RS1000460725 (19:55234025 C>T), RS1000467452 (19:55255898 A>G), RS1000499245 (19:55253535 C>T), RS1000646035 (19:55234238 T>C), RS1000668015 (19:55230441 G>A), RS1000730868 (19:55234202 C>T), RS1000817228 (19:55248797 A>C,T), RS1000883294 (19:55253818 G>A), RS1000920777 (19:55242099 G>A), RS1000932862 (19:55249038 G>A)
Disease associations
OMIM: gene MIM:610875 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010653_3 | Thyroid stimulating hormone levels | 1.000000e-08 |
| GCST011739_12 | Cutaneous leishmaniasis | 5.000000e-06 |
| GCST90002390_663 | Mean corpuscular hemoglobin | 3.000000e-12 |
| GCST90002392_79 | Mean corpuscular volume | 6.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105774 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.85 | Kd | 1.421 | nM | CHEMBL5653589 |
| 8.85 | ED50 | 1.421 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 6 total; 1 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 |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149058: Binding affinity to human PPP6R1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0014 | uM |
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| cupric chloride | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Estradiol | affects expression | 1 |
| Lead | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Nickel | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4012582 | Binding | Binding affinity to PP6R1 protein in human INA-6 cells after 3 hrs by nanoLC-MS/MS method | Ugi Reaction-Derived α-Acyl Aminocarboxamides Bind to Phosphatidylinositol 3-Kinase-Related Kinases, Inhibit HSF1-Dependent Heat Shock Response, and Induce Apoptosis in Multiple Myeloma Cells. — J Med Chem |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3EN | Abcam HEK293T PPP6R1 KO | Transformed cell line | Female |
| CVCL_TG30 | HAP1 PPP6R1 (-) 1 | Cancer cell line | Male |
| CVCL_TG31 | HAP1 PPP6R1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cutaneous leishmaniasis