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Aliases for PPP1R12A Gene

Aliases for PPP1R12A Gene

  • Protein Phosphatase 1 Regulatory Subunit 12A 2 3 5
  • Myosin Phosphatase-Targeting Subunit 1 2 3 4
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 12A 2 3
  • Protein Phosphatase 1, Regulatory Subunit 12A 2 3
  • Protein Phosphatase Myosin-Binding Subunit 3 4
  • Myosin Binding Subunit 2 3
  • MYPT1 3 4
  • MBS 3 4
  • Myosin Phosphatase, Target Subunit 1 3
  • Myosin Phosphatase Target Subunit 1 4
  • M130 3

External Ids for PPP1R12A Gene

Previous HGNC Symbols for PPP1R12A Gene

  • MYPT1

Previous GeneCards Identifiers for PPP1R12A Gene

  • GC12M080142
  • GC12M080532
  • GC12M078670
  • GC12M077223

Summaries for PPP1R12A Gene

Entrez Gene Summary for PPP1R12A 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]

GeneCards Summary for PPP1R12A Gene

PPP1R12A (Protein Phosphatase 1 Regulatory Subunit 12A) is a Protein Coding gene. Diseases associated with PPP1R12A include moebius syndrome and infratentorial cancer. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include protein kinase binding and enzyme inhibitor activity. An important paralog of this gene is PPP1R12C.

UniProtKB/Swiss-Prot for PPP1R12A Gene

  • Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity.

Gene Wiki entry for PPP1R12A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R12A Gene

Genomics for PPP1R12A Gene

Regulatory Elements for PPP1R12A Gene

Promoters for PPP1R12A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PPP1R12A on UCSC Golden Path with GeneCards custom track

Genomic Location for PPP1R12A Gene

Chromosome:
12
Start:
79,773,563 bp from pter
End:
79,935,460 bp from pter
Size:
161,898 bases
Orientation:
Minus strand

Genomic View for PPP1R12A Gene

Genes around PPP1R12A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R12A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R12A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R12A Gene

Proteins for PPP1R12A Gene

  • Protein details for PPP1R12A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14974-MYPT1_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 12A
    Protein Accession:
    O14974
    Secondary Accessions:
    • B4DZ09
    • F8VWB4
    • Q2NKL4
    • Q569H0
    • Q86WU3
    • Q8NFR6
    • Q9BYH0

    Protein attributes for PPP1R12A Gene

    Size:
    1030 amino acids
    Molecular mass:
    115281 Da
    Quaternary structure:
    • PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC, and one or several targeting or regulatory subunits. PPP1R12A mediates binding to myosin. Interacts with ARHA and CIT (By similarity). Binds PPP1R12B, ROCK1 and IL16. Interacts directly with PRKG1. Non-covalent dimer of 2 dimers; PRKG1-PRKG1 and PPP1R12A-PPP1R12A. Interacts with SMTNL1 (By similarity). Interacts with PPP1CB; the interaction is direct. Interacts (when phosphorylated at Ser-445, Ser-472 and Ser-910) with 14-3-3. Interacts with ROCK1 and ROCK2. Interacts with isoform 1 and isoform 2 of ZIPK/DAPK3. Interacts with RAF1. Interacts with HIF1AN.
    SequenceCaution:
    • Sequence=AAH47898.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH92481.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PPP1R12A Gene

    Alternative splice isoforms for PPP1R12A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP1R12A Gene

Proteomics data for PPP1R12A Gene at MOPED

Post-translational modifications for PPP1R12A Gene

  • Phosphorylated by CIT (Rho-associated kinase) (By similarity). Phosphorylated cooperatively by ROCK1 and CDC42BP on Thr-696. Phosphorylated on upon DNA damage, probably by ATM or ATR. In vitro, phosphorylation of Ser-695 by PKA and PKG appears to prevent phosphorylation of the inhibitory site Thr-696, probably mediated by PRKG1. Phosphorylation at Ser-445, Ser-472 and Ser-910 by NUAK1 promotes interaction with 14-3-3, leading to inhibit interaction with myosin light chain MLC2, preventing dephosphorylation of MLC2. May be phosphorylated at Thr-696 by DMPK; may inhibit the myosin phosphatase activity. Phosphorylated at Ser-473 by CDK1 during mitosis, creating docking sites for the POLO box domains of PLK1. Subsequently, PLK1 binds and phosphorylates PPP1R12A.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PPP1R12A (MYPT1)

No data available for DME Specific Peptides for PPP1R12A Gene

Domains & Families for PPP1R12A Gene

Protein Domains for PPP1R12A Gene

Suggested Antigen Peptide Sequences for PPP1R12A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14974

UniProtKB/Swiss-Prot:

MYPT1_HUMAN :
  • Heterotetramerization is mediated by the interaction between a coiled-coil of PRKG1 and the leucine/isoleucine zipper of PPP1R12A/MBS, the myosin-binding subunit of the myosin phosphatase.
  • Contains 6 ANK repeats.
Domain:
  • Heterotetramerization is mediated by the interaction between a coiled-coil of PRKG1 and the leucine/isoleucine zipper of PPP1R12A/MBS, the myosin-binding subunit of the myosin phosphatase.
  • The KVKF motif mediates interaction with PPP1CB.
Similarity:
  • Contains 6 ANK repeats.
genes like me logo Genes that share domains with PPP1R12A: view

Function for PPP1R12A Gene

Molecular function for PPP1R12A Gene

UniProtKB/Swiss-Prot Function:
Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity.

Gene Ontology (GO) - Molecular Function for PPP1R12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0005515 protein binding IEA,IPI 11067852
genes like me logo Genes that share ontologies with PPP1R12A: view
genes like me logo Genes that share phenotypes with PPP1R12A: view

Animal Models for PPP1R12A Gene

MGI Knock Outs for PPP1R12A:

Animal Model Products

  • Taconic Biosciences Mouse Models for PPP1R12A

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP1R12A Gene

Localization for PPP1R12A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP1R12A Gene

Cytoplasm. Note=Along actomyosin filaments and stress fibers.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPP1R12A Gene COMPARTMENTS Subcellular localization image for PPP1R12A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
endoplasmic reticulum 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PPP1R12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0072357 PTW/PP1 phosphatase complex IDA 20354225
genes like me logo Genes that share ontologies with PPP1R12A: view

Pathways & Interactions for PPP1R12A Gene

genes like me logo Genes that share pathways with PPP1R12A: view

SIGNOR curated interactions for PPP1R12A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PPP1R12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0030155 regulation of cell adhesion IDA 20354225
GO:0035507 regulation of myosin-light-chain-phosphatase activity IDA 20354225
GO:0035508 positive regulation of myosin-light-chain-phosphatase activity IMP 25816133
genes like me logo Genes that share ontologies with PPP1R12A: view

Drugs & Compounds for PPP1R12A Gene

(9) Drugs for PPP1R12A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for PPP1R12A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PPP1R12A: view

Transcripts for PPP1R12A Gene

Unigene Clusters for PPP1R12A Gene

Protein phosphatase 1, regulatory subunit 12A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R12A Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: -
SP2: -
SP3:

Relevant External Links for PPP1R12A Gene

GeneLoc Exon Structure for
PPP1R12A
ECgene alternative splicing isoforms for
PPP1R12A

Expression for PPP1R12A Gene

mRNA expression in normal human tissues for PPP1R12A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPP1R12A Gene

This gene is overexpressed in Bone marrow stromal cell (8.9) and Peripheral blood mononuclear cells (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PPP1R12A Gene



SOURCE GeneReport for Unigene cluster for PPP1R12A Gene Hs.49582

mRNA Expression by UniProt/SwissProt for PPP1R12A Gene

O14974-MYPT1_HUMAN
Tissue specificity: Expressed in striated muscles, specifically in type 2a fibers (at protein level).
genes like me logo Genes that share expression patterns with PPP1R12A: view

Protein tissue co-expression partners for PPP1R12A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PPP1R12A Gene

Orthologs for PPP1R12A Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPP1R12A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP1R12A 35
  • 99.71 (n)
  • 99.42 (a)
PPP1R12A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PPP1R12A 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPP1R12A 36
  • 98 (a)
OneToOne
PPP1R12A 35
  • 95.3 (n)
  • 98.25 (a)
mouse
(Mus musculus)
Mammalia Ppp1r12a 36
  • 92 (a)
OneToOne
Ppp1r12a 35
  • 88.13 (n)
  • 92.37 (a)
Ppp1r12a 16
oppossum
(Monodelphis domestica)
Mammalia PPP1R12A 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
chicken
(Gallus gallus)
Aves MBSP 36
  • 82 (a)
OneToOne
PPP1R12A 35
  • 82.84 (n)
  • 86.97 (a)
lizard
(Anolis carolinensis)
Reptilia PPP1R12A 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9122 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r12a 35
  • 75.7 (n)
  • 77.83 (a)
Str.3833 35
zebrafish
(Danio rerio)
Actinopterygii ppp1r12a 36
  • 68 (a)
OneToOne
ppp1r12a 35
  • 72.8 (n)
  • 81.59 (a)
srnyz142 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
ManyToMany
Species with no ortholog for PPP1R12A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PPP1R12A Gene

ENSEMBL:
Gene Tree for PPP1R12A (if available)
TreeFam:
Gene Tree for PPP1R12A (if available)

Paralogs for PPP1R12A Gene

Paralogs for PPP1R12A Gene

genes like me logo Genes that share paralogs with PPP1R12A: view

Variants for PPP1R12A Gene

Sequence variations from dbSNP and Humsavar for PPP1R12A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1375908 -- 79,914,859(+) TCTAT(A/T)AAAAA intron-variant, upstream-variant-2KB
rs1817021 -- 79,893,029(-) CCTCC(C/T)AGGTT intron-variant
rs2068509 -- 79,932,272(-) AAAAT(G/T)TTAAG intron-variant
rs2068510 -- 79,932,261(-) CCTTT(A/G)AGAAA intron-variant
rs2077423 -- 79,785,998(+) AATAA(C/G)CTTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPP1R12A Gene

Variant ID Type Subtype PubMed ID
nsv786 CNV Insertion 18451855
esv33677 CNV Loss 17666407
nsv899336 CNV Loss 21882294
nsv818927 CNV Loss 17921354
nsv507659 CNV Insertion 20534489
esv267837 CNV Insertion 20981092
nsv510306 CNV Loss 20534489
esv2746114 CNV Deletion 23290073
nsv787 CNV Insertion 18451855
esv2658648 CNV Deletion 23128226
esv268634 CNV Insertion 20981092

Variation tolerance for PPP1R12A Gene

Residual Variation Intolerance Score: 20.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPP1R12A Gene

HapMap Linkage Disequilibrium report
PPP1R12A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R12A Gene

Disorders for PPP1R12A Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPP1R12A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
moebius syndrome
  • mobius syndrome
infratentorial cancer
  • brain neoplasm, infratentorial
medullomyoblastoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PPP1R12A

Genetic Association Database (GAD)
PPP1R12A
Human Genome Epidemiology (HuGE) Navigator
PPP1R12A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP1R12A
genes like me logo Genes that share disorders with PPP1R12A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R12A Gene

Publications for PPP1R12A Gene

  1. Localization of the gene coding for myosin phosphatase, target subunit 1 (MYPT1) to human chromosome 12q15-q21. (PMID: 9286714) Takahashi N. … Takemura K. (Genomics 1997) 2 3 4 23 67
  2. Regulation of MYPT1 stability by the E3 ubiquitin ligase SIAH2. (PMID: 19744480) Twomey E. … Sikorska M. (Exp. Cell Res. 2010) 3 23
  3. New roles for the LKB1-NUAK pathway in controlling myosin phosphatase complexes and cell adhesion. (PMID: 20354225) Zagorska A. … Alessi D.R. (Sci. Signal. 2010) 3 23
  4. Phosphorylation-dependent autoinhibition of myosin light chain phosphatase accounts for Ca2+ sensitization force of smooth muscle contraction. (PMID: 19531490) Khromov A. … Eto M. (J. Biol. Chem. 2009) 3 23
  5. MYPT1, the targeting subunit of smooth-muscle myosin phosphatase, is a substrate for the asparaginyl hydroxylase factor inhibiting hypoxia- inducible factor (FIH). (PMID: 19245366) Webb J.D. … Coleman M.L. (Biochem. J. 2009) 3 23

Products for PPP1R12A Gene

Sources for PPP1R12A Gene

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