PPP1R27

Summary

PPP1R27 (protein phosphatase 1 regulatory subunit 27, HGNC:16813) is a protein-coding gene on chromosome 17q25.3, encoding Protein phosphatase 1 regulatory subunit 27 (Q86WC6). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.

Enables phosphatase binding activity.

Source: NCBI Gene 116729 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_001007533

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16813
Approved symbol	PPP1R27
Name	protein phosphatase 1 regulatory subunit 27
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	toonin
Ensembl gene	ENSG00000182676
Ensembl biotype	protein_coding
Entrez	116729

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000330261, ENST00000570394, ENST00000573182, ENST00000943071, ENST00000943072

RefSeq mRNA: 1 — MANE Select: NM_001007533 NM_001007533

CCDS: CCDS32767

Canonical transcript exons

ENST00000330261 — 3 exons

Exon	Start	End
ENSE00001299686	81834764	81835050
ENSE00001322327	81834503	81834653
ENSE00001679487	81833492	81833852

Expression profiles

Bgee: expression breadth ubiquitous, 118 present calls, max score 99.64.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.9076 / max 1167.1096, expressed in 105 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168787	2.5362	93
168788	0.3408	40
168789	0.0307	11

Top tissues by expression

128 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	99.64	gold quality
gastrocnemius	UBERON:0001388	99.38	gold quality
skeletal muscle tissue	UBERON:0001134	99.04	gold quality
muscle of leg	UBERON:0001383	96.87	gold quality
muscle tissue	UBERON:0002385	80.85	gold quality
pituitary gland	UBERON:0000007	75.60	gold quality
adenohypophysis	UBERON:0002196	74.56	gold quality
bone marrow	UBERON:0002371	64.91	gold quality
bone marrow cell	CL:0002092	62.54	silver quality
left testis	UBERON:0004533	61.84	gold quality
right adrenal gland	UBERON:0001233	61.57	gold quality
right adrenal gland cortex	UBERON:0035827	61.49	gold quality
testis	UBERON:0000473	61.15	gold quality
right testis	UBERON:0004534	59.86	gold quality
left adrenal gland cortex	UBERON:0035825	59.38	gold quality
skin of abdomen	UBERON:0001416	59.06	gold quality
granulocyte	CL:0000094	58.64	gold quality
blood	UBERON:0000178	58.50	gold quality
left adrenal gland	UBERON:0001234	58.34	gold quality
right lobe of liver	UBERON:0001114	58.15	gold quality
zone of skin	UBERON:0000014	58.10	gold quality
skin of leg	UBERON:0001511	57.45	gold quality
adrenal gland	UBERON:0002369	56.47	gold quality
apex of heart	UBERON:0002098	56.31	gold quality
minor salivary gland	UBERON:0001830	56.20	gold quality
saliva-secreting gland	UBERON:0001044	54.86	gold quality
heart left ventricle	UBERON:0002084	54.62	gold quality
esophagus mucosa	UBERON:0002469	53.24	gold quality
liver	UBERON:0002107	53.09	gold quality
prostate gland	UBERON:0002367	52.78	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6075	yes	18.01
E-ANND-3	yes	6.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting PPP1R27, 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-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-7851-3P	98.72	64.88	980

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp1r27b	ENSDARG00000100504
danio_rerio	ppp1r27a	ENSDARG00000116806
mus_musculus	Ppp1r27	ENSMUSG00000025129
rattus_norvegicus	Ppp1r27	ENSRNOG00000036690

Paralogs (3): PPP1R12A (ENSG00000058272), PPP1R12B (ENSG00000077157), PPP1R12C (ENSG00000125503)

Protein

Protein identifiers

Protein phosphatase 1 regulatory subunit 27 — Q86WC6 (reviewed: Q86WC6)

Alternative names: Dysferlin-interacting protein 1, Toonin

All UniProt accessions (2): Q86WC6, I3L267

UniProt curated annotations — full annotation on UniProt →

Function. Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.

Subunit / interactions. Interacts with DYSF and PPP1CA.

RefSeq proteins (1): NP_001007534* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR053080	PP1_regulatory_subunit_27	Family

Pfam: PF12796

UniProt features (3 total): repeat 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86WC6-F1	87.60	0.58

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 55 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOMF_PHOSPHATASE_INHIBITOR_ACTIVITY, GOMF_PHOSPHATASE_BINDING, GOMF_ENZYME_INHIBITOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, GOMF_PHOSPHATASE_REGULATOR_ACTIVITY, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_DN, FOXN3_TARGET_GENES, NFKBIA_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (3): protein phosphatase inhibitor activity (GO:0004864), phosphatase binding (GO:0019902), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphoprotein phosphatase activity	1
phosphatase inhibitor activity	1
protein phosphatase regulator activity	1
enzyme binding	1
binding	1

Protein interactions and networks

STRING

1042 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP1R27	SHISA4	Q96DD7	506
PPP1R27	DHX34	Q14147	489
PPP1R27	PPP1R26	Q5T8A7	453
PPP1R27	NDUFA3	O95167	448
PPP1R27	PPP1R14B	Q96C90	445
PPP1R27	GTF2A1L	Q9UNN4	445
PPP1R27	PSKH1	P11801	436
PPP1R27	FRMPD2	Q68DX3	427
PPP1R27	ENDOV	Q8N8Q3	402
PPP1R27	PPP1R3D	O95685	391
PPP1R27	PPP1R3G	B7ZBB8	384
PPP1R27	SACK1E	Q2M2I3	379
PPP1R27	BORCS8	Q96FH0	372
PPP1R27	TIGD3	Q6B0B8	371
PPP1R27	TMEM9	Q9P0T7	366

IntAct

33 interactions, top by confidence:

A	B	Type	Score
PPP1CA	PPP1R27	psi-mi:“MI:0915”(physical association)	0.710
PPP1CA	PPP1R27	psi-mi:“MI:0407”(direct interaction)	0.710
PPP1R27	ZNF576	psi-mi:“MI:0915”(physical association)	0.560
PPP1R27	GCC1	psi-mi:“MI:0915”(physical association)	0.560
RPL9	PPP1R27	psi-mi:“MI:0915”(physical association)	0.560
SMCP	PPP1R27	psi-mi:“MI:0915”(physical association)	0.560
PPP1CB	PPP1R27	psi-mi:“MI:0915”(physical association)	0.560
PPP1R27	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
PPP1R27	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
KRT34	PPP1R27	psi-mi:“MI:0915”(physical association)	0.560
PPP1R27	MVB12A	psi-mi:“MI:0915”(physical association)	0.560
GCC1	PPP1R27	psi-mi:“MI:0915”(physical association)	0.000
RPL9	PPP1R27	psi-mi:“MI:0915”(physical association)	0.000
NTAQ1	PPP1R27	psi-mi:“MI:0915”(physical association)	0.000
PPP1CA	PPP1R27	psi-mi:“MI:0915”(physical association)	0.000
PPP1R27	DDIT4L	psi-mi:“MI:0915”(physical association)	0.000
KRT34	PPP1R27	psi-mi:“MI:0915”(physical association)	0.000
PPP1R27	SMCP	psi-mi:“MI:0915”(physical association)	0.000
PPP1R27	PPP1CB	psi-mi:“MI:0915”(physical association)	0.000
PPP1R27	MVB12A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): PPP1R27 (Two-hybrid), PPP1R27 (Two-hybrid), PPP1R27 (Two-hybrid), PPP1R27 (Two-hybrid), PPP1R27 (Two-hybrid), PPP1R27 (Two-hybrid), PPP1R27 (Two-hybrid), PPP1R27 (Two-hybrid), PPP1CB (Two-hybrid), PPP1R27 (Negative Genetic), PPP1R27 (Affinity Capture-MS), PPP1R27 (Affinity Capture-Western)

ESM2 similar proteins: A0PJZ0, A6NHY2, A7E2S9, C7B178, D3J162, G5E8K5, P42570, P42773, P53355, Q08E43, Q10311, Q14DN9, Q18297, Q2T9W8, Q3EC11, Q4R3S3, Q4R544, Q4UJC4, Q4UJJ2, Q5EFR1, Q5I126, Q5I148, Q5I155, Q5I159, Q5I160, Q5R6D7, Q5RCK5, Q5TYM7, Q5VYY1, Q60772, Q60773, Q6XJU9, Q80YE7, Q86WC6, Q91ZT9, Q91ZU0, Q92527, Q9BGT9, Q9CQM6, Q9D119

Diamond homologs: A2AQH4, A2AS55, A6NGH8, A6QR20, O14974, Q2T9W8, Q499M5, Q5H9F3, Q641X1, Q6P6B7, Q6W2J9, Q86WC6, Q8CGN4, Q9BQI6, Q9D119, Q9UU77, Q9XZC0, A2ARS0, B2RXR6, C7B178, C9JTQ0, P0C927, P19838, Q00PJ3, Q07E43, Q08353, Q21920, Q29RM5, Q2QL84, Q337A0, Q3KP44, Q3SX00, Q3UES3, Q3UUF8, Q4FE45, Q4JHE0, Q4V890, Q502K3, Q5R8C8, Q5ZLC8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

27 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

296 predictions. Top by Δscore:

Variant	Effect	Δscore
17:81834649:CAGGC:C	acceptor_gain	1.0000
17:81834654:CT:C	acceptor_loss	1.0000
17:81834655:T:A	acceptor_loss	1.0000
17:81834759:CTCA:C	donor_loss	1.0000
17:81834760:TCAC:T	donor_loss	1.0000
17:81834761:CAC:C	donor_loss	1.0000
17:81834762:ACCT:A	donor_loss	1.0000
17:81834763:C:A	donor_loss	1.0000
17:81834794:T:A	donor_gain	1.0000
17:81833837:C:CT	acceptor_gain	0.9900
17:81833837:C:T	acceptor_gain	0.9900
17:81833851:ACC:A	acceptor_loss	0.9900
17:81833852:CCT:C	acceptor_loss	0.9900
17:81833853:C:A	acceptor_loss	0.9900
17:81833854:T:A	acceptor_loss	0.9900
17:81834499:TCA:T	donor_loss	0.9900
17:81834501:A:AT	donor_loss	0.9900
17:81834502:C:CG	donor_loss	0.9900
17:81834502:CCTGG:C	donor_gain	0.9900
17:81834650:AGGC:A	acceptor_gain	0.9900
17:81834651:GGC:G	acceptor_gain	0.9900
17:81834652:GC:G	acceptor_gain	0.9900
17:81834653:CC:C	acceptor_gain	0.9900
17:81834654:C:CC	acceptor_gain	0.9900
17:81834659:C:CT	acceptor_gain	0.9900
17:81834660:A:T	acceptor_gain	0.9900
17:81834762:A:AC	donor_gain	0.9900
17:81834763:C:CC	donor_gain	0.9900
17:81834763:CCTG:C	donor_gain	0.9900
17:81834763:CCTGA:C	donor_gain	0.9900

AlphaMissense

992 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:81833847:A:G	L116P	0.999
17:81834529:G:C	C105W	0.998
17:81834531:A:G	C105R	0.998
17:81833796:G:T	P133H	0.997
17:81834530:C:T	C105Y	0.997
17:81834533:G:T	A104D	0.997
17:81834633:C:G	A71P	0.996
17:81834506:G:T	A113D	0.995
17:81834596:A:G	L83P	0.995
17:81834853:A:G	F34S	0.995
17:81833796:G:C	P133R	0.994
17:81834599:A:G	L82P	0.994
17:81834620:C:A	G75V	0.993
17:81833847:A:T	L116H	0.992
17:81834522:C:A	G108W	0.992
17:81834542:A:G	L101P	0.992
17:81834545:G:T	P100H	0.992
17:81834563:T:A	D94V	0.992
17:81834545:G:C	P100R	0.991
17:81834564:C:G	D94H	0.991
17:81834534:C:G	A104P	0.990
17:81834552:A:G	W98R	0.990
17:81834552:A:T	W98R	0.990
17:81834632:G:T	A71D	0.990
17:81833813:G:C	N127K	0.989
17:81833813:G:T	N127K	0.989
17:81834629:A:T	V72E	0.989
17:81834521:C:A	G108V	0.988
17:81834563:T:G	D94A	0.988
17:81834626:A:G	L73P	0.988

dbSNP variants (sampled 300 via entrez): RS1000452669 (17:81834405 G>A,T), RS1000817457 (17:81835594 C>T), RS1001078732 (17:81835394 A>G), RS1001700528 (17:81835645 G>A), RS1002083981 (17:81833378 C>G,T), RS1002370048 (17:81835814 T>A), RS1002539612 (17:81833262 C>T), RS1003663638 (17:81836739 G>A), RS1004943694 (17:81835026 C>T), RS1004974753 (17:81835158 C>G,T), RS1005982014 (17:81836075 A>G), RS1006316198 (17:81836521 G>A), RS1007180412 (17:81836668 G>A), RS1007947446 (17:81833759 C>T), RS1008394260 (17:81833956 C>A,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Benzo(a)pyrene	increases methylation, decreases expression	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
licochalcone B	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Cadmium	increases abundance, increases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.