Seroatlas · Human Serome Atlas

PPP1R12A

Protein phosphatase 1 regulatory subunit 12A

Also known as: M130, MBS, MYPT1, MYPT1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O14974
Gene
PPP1R12A
Ensembl
ENSG00000058272
Chromosome
12
Canonical length
1030 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoli,Plasma membrane,Actin filaments,Cytosol

OverviewNCBI Gene

Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

Canonical amino-acid sequenceUniProt

1030 residues, UniProt reviewed canonical sequence.

>O14974|PPP1R12A
     1  MKMADAKQKR NEQLKRWIGS ETDLEPPVVK RQKTKVKFDD GAVFLAACSS GDTDEVLKLL
    61  HRGADINYAN VDGLTALHQA CIDDNVDMVK FLVENGANIN QPDNEGWIPL HAAASCGYLD
   121  IAEFLIGQGA HVGAVNSEGD TPLDIAEEEA MEELLQNEVN RQGVDIEAAR KEEERIMLRD
   181  ARQWLNSGHI NDVRHAKSGG TALHVAAAKG YTEVLKLLIQ AGYDVNIKDY DGWTPLHAAA
   241  HWGKEEACRI LVDNLCDMEM VNKVGQTAFD VADEDILGYL EELQKKQNLL HSEKRDKKSP
   301  LIESTANMDN NQSQKTFKNK ETLIIEPEKN ASRIESLEQE KVDEEEEGKK DESSCSSEED
   361  EEDDSESEAE TDKTKPLASV TNANTSSTQA APVAVTTPTV SSGQATPTSP IKKFPTTATK
   421  ISPKEEERKD ESPATWRLGL RKTGSYGALA EITASKEGQK EKDTAGVTRS ASSPRLSSSL
   481  DNKEKEKDSK GTRLAYVAPT IPRRLASTSD IEEKENRDSS SLRTSSSYTR RKWEDDLKKN
   541  SSVNEGSTYH KSCSFGRRQD DLISSSVPST TSTPTVTSAA GLQKSLLSST STTTKITTGS
   601  SSAGTQSSTS NRLWAEDSTE KEKDSVPTAV TIPVAPTVVN AAASTTTLTT TTAGTVSSTT
   661  EVRERRRSYL TPVRDEESES QRKARSRQAR QSRRSTQGVT LTDLQEAEKT IGRSRSTRTR
   721  EQENEEKEKE EKEKQDKEKQ EEKKESETSR EDEYKQKYSR TYDETYQRYR PVSTSSSTTP
   781  SSSLSTMSSS LYASSQLNRP NSLVGITSAY SRGITKENER EGEKREEEKE GEDKSQPKSI
   841  RERRRPREKR RSTGVSFWTQ DSDENEQEQQ SDTEEGSNKK ETQTDSISRY ETSSTSAGDR
   901  YDSLLGRSGS YSYLEERKPY SSRLEKDDST DFKKLYEQIL AENEKLKAQL HDTNMELTDL
   961  KLQLEKATQR QERFADRSLL EMEKRERRAL ERRISEMEEE LKMLPDLKAD NQRLKDENGA
  1021  LIRVISKLSK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PPP1R12A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.55
Highest tissue expression
92 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 92 nTPM
  • seminal vesicle: 80 nTPM
  • smooth muscle: 78 nTPM
  • colon: 69 nTPM
  • esophagus: 67 nTPM
  • urinary bladder: 66 nTPM

Single-cell type

  • neutrophils: 2,038 nCPM
  • neutrophil progenitors: 1,425 nCPM
  • smooth muscle cells: 1,027 nCPM
  • vascular smooth muscle cells: 813 nCPM
  • sertoli cells: 523 nCPM
  • salivary myoepithelial cells: 511 nCPM

Immune cell

  • eosinophil: 198 nTPM
  • neutrophil: 188 nTPM
  • basophil: 156 nTPM
  • NK-cell: 99 nTPM
  • non-classical monocyte: 71 nTPM
  • T-reg: 70 nTPM

Brain region

  • cerebral cortex: 87 nTPM
  • basal ganglia: 67 nTPM
  • white matter: 67 nTPM
  • cerebellum: 65 nTPM
  • hippocampal formation: 63 nTPM
  • amygdala: 56 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PPP1R12A.

Disease | AllUniProt

Conditions PPP1R12A is implicated in, by any mechanism.

  • Genitourinary and/or brain malformation syndrome (GUBS) MIM:618820

Disease | GeneticClinVar

35 pathogenic / likely-pathogenic of 302 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.13
gnomAD pLI
1
gnomAD missense Z
2.64
DepMap mean gene effect
-1.24
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PPP1R12A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PPP1R12A as an antibody target. Whether an autoantibody or antibody against PPP1R12A could matter depends on whether native PPP1R12A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PPP1R12A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PPP1R12A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PPP1R12A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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