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PPP1R12A Gene

protein-coding   GIFtS: 65
GCID: GC12M080142

Protein Phosphatase 1, Regulatory Subunit 12A

(Previous names: protein phosphatase 1, regulatory (inhibitor) subunit 12A)
(Previous symbol: MYPT1)
  See PPP1R12A-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein Phosphatase 1, Regulatory Subunit 12A1 2     MBS2 3
MYPT11 2 3 5     M1302
Myosin Phosphatase-Targeting Subunit 11 2 3     Myosin Phosphatase, Target Subunit 12
Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 12A1 2     Protein Phosphatase 1 Regulatory Subunit 12A2
Myosin Binding Subunit1 2     Myosin Phosphatase Target Subunit 13
Protein Phosphatase Myosin-Binding Subunit2 3     

External Ids:    HGNC: 76181   Entrez Gene: 46592   Ensembl: ENSG000000582727   OMIM: 6020215   UniProtKB: O149743   

Export aliases for PPP1R12A gene to outside databases

Previous GC identifers: GC12M080532 GC12M078670 GC12M077223


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include enzyme inhibitor activity and protein kinase binding. An important paralog of this gene is PPP1R13B.

UniProtKB/Swiss-Prot: MYPT1_HUMAN, O14974
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 Wiki entry for PPP1R12A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PPP1R12A gene promoter:
         Bach1   STAT5B   MAZR   FOXD1   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPP1R12A promoter sequence
   Search Chromatin IP Primers for PPP1R12A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPP1R12A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q15-q21   Ensembl cytogenetic band:  12q21.31   HGNC cytogenetic band: 12q15-q21

PPP1R12A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPP1R12A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M080142:  view genomic region     (about GC identifiers)

Start:
80,167,343 bp from pter      End:
80,329,240 bp from pter
Size:
161,898 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MYPT1_HUMAN, O14974 (See protein sequence)
Recommended Name: Protein phosphatase 1 regulatory subunit 12A  
Size: 1030 amino acids; 115281 Da
Subunit: 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
Developmental stage: Induced by 2-fold during pregnancy, including in abdominus rectus muscle
Sequence caution: Sequence=AAH47898.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH92481.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
1 PDB 3D structure from and Proteopedia for PPP1R12A:
2KJY (3D)    
Secondary accessions: B4DZ09 F8VWB4 Q2NKL4 Q569H0 Q86WU3 Q8NFR6 Q9BYH0
Alternative splicing: 5 isoforms:  O14974-1   O14974-2   O14974-3   O14974-4   O14974-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PPP1R12A: NX_O14974

Explore proteomics data for PPP1R12A at MOPED

Post-translational modifications: 

  • 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 PPP1R12A1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PPP1R12A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001137357.1  NP_001137358.1  NP_001231919.1  NP_001231921.1  NP_002471.1  

    ENSEMBL proteins: 
     ENSP00000389168   ENSP00000416769   ENSP00000450059   ENSP00000449647   ENSP00000449666  
     ENSP00000449514   ENSP00000446855   ENSP00000447144   ENSP00000446816   ENSP00000450061  
     ENSP00000447338   ENSP00000449843   ENSP00000261207  
    Reactome Protein details: O14974

    PPP1R12A Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PPP1R12A

     
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    antibodies-online peptides for PPP1R12A

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    antibodies-online antibodies for PPP1R12A (115 products) 

    PPP1R12A Assay Products:

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    antibodies-online kits for PPP1R12A (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    3 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR017401 Pase-1_reg_su_12A/B/C_euk
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry O14974

    ProtoNet protein and cluster: O14974

    UniProtKB/Swiss-Prot: MYPT1_HUMAN, O14974
    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 (By similarity)
    Domain: The KVKF motif mediates interaction with PPP1CB
    Similarity: Contains 6 ANK repeats


    Find genes that share domains with PPP1R12A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYPT1_HUMAN, O14974
    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004857enzyme inhibitor activity IDA19245366
    GO:0004871signal transducer activity NAS8662509
    GO:0005515protein binding IPI16417406
    GO:0019208phosphatase regulator activity IMP18477460
    GO:0019901protein kinase binding IPI18477460
         
    Find genes that share ontologies with PPP1R12A           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for PPP1R12A:
     Cell division defect  Decreased G3BP1 protein expres  Decreased cell number, increas  Decreased viability 
     Increased cell death HMECs cel  Increased number of cells in m 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ppp1r12a):
     mortality/aging 

    Find genes that share phenotypes with PPP1R12A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ppp1r12atm1Mito for PPP1R12A

       genOway: Develop your customized and physiologically relevant rodent model for PPP1R12A

    miRNA
    Products:
        
    miRTarBase miRNAs that target PPP1R12A:
    hsa-mir-10a-5p (MIRT047621), hsa-mir-30c-5p (MIRT047894), hsa-mir-96-5p (MIRT027917), hsa-mir-215-5p (MIRT024772), hsa-mir-93-3p (MIRT038793), hsa-mir-192-5p (MIRT026571), hsa-mir-30a-5p (MIRT028611)

    Block miRNA regulation of human, mouse, rat PPP1R12A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PPP1R12A (see all 84):
    hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-485-3p hsa-miR-134 hsa-miR-30d hsa-miR-10b* hsa-miR-877* hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidPPP1R12A 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PPP1R12A
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYPT1_HUMAN, O14974: Cytoplasm. Note=Along actomyosin filaments and stress fibers
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776kinetochore IDA18477460
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA18477460
    GO:0015629actin cytoskeleton IDA--

    Find genes that share ontologies with PPP1R12A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PPP1R12A About   (see all 30)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    Focal Adhesion0.65
    2Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    3Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    4fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    Signal transduction Activation of PKC via G Protein coupled receptor0.42
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56


    Find genes that share SuperPaths with PPP1R12A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PPP1R12A (see all 28)
        RhoA Pathway
    PKA Signaling
    Actin-Based Motility by Rho Family GTPases
    eIF2 Pathway
    CDK5 Pathway

    2 Cell Signaling Technology (CST) Pathways for PPP1R12A
        Phosphatases
    Cytoskeletal Signaling

    1 Tocris Bioscience Pathway for PPP1R12A
        Insulin Pathway

    Selected GeneGo (Thomson Reuters) Pathways for PPP1R12A (see all 7)
        Signal transduction Activation of PKC via G-Protein coupled receptor
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Inhibitory action of Lipoxins on neutrophil migration
    Immune response CCR3 signaling in eosinophils

    4 BioSystems Pathways for PPP1R12A
        Focal Adhesion
    Regulation of Actin Cytoskeleton
    PLK1 signaling events
    RhoA signaling pathway


    1 Reactome Pathway for PPP1R12A
        Regulation of PLK1 Activity at G2/M Transition


    5 Kegg Pathways  (Kegg details for PPP1R12A):
        Vascular smooth muscle contraction
    Focal adhesion
    Regulation of actin cytoskeleton
    Oxytocin signaling pathway
    Proteoglycans in cancer

        Pathway & Disease-focused RT2 Profiler PCR Array including PPP1R12A: 
              Cytoskeleton Regulators in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PPP1R12A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PPP1R12A (O149742, 3 ENSP000002612074) via UniProtKB, MINT, STRING, and/or I2D (see all 145)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FYNP062412, 3, ENSP000003576564MINT-8111391 I2D: score=3 STRING: ENSP00000357656
    PRKAR1AP106442, 3, ENSP000003514104MINT-8387176 I2D: score=1 STRING: ENSP00000351410
    MAP3K3Q997592, 3MINT-48483 I2D: score=2 
    RIPK3Q9Y5722, 3MINT-49137 I2D: score=2 
    DMPKQ090132, 3, ENSP000003459974MINT-15299 MINT-8150223 I2D: score=4 STRING: ENSP00000345997
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006470protein dephosphorylation IMP18477460
    GO:0007067mitosis IMP18477460
    GO:0007165signal transduction NAS8662509

    Find genes that share ontologies with PPP1R12A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PPP1R12A (MYPT1)

    Selected Novoseek inferred chemical compound relationships for PPP1R12A gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fasudil 86.8 6 19052484 (1), 19524699 (1), 10233893 (1), 18996357 (1) (see all 5)
    actomyosin 60 2 15748895 (1), 15281089 (1)
    thromboxane a2 50.6 7 19095646 (1), 11389019 (1), 10233893 (1), 19277501 (1)
    gf 109203x 45.3 1 11389019 (1)
    okadaic acid 40 6 16038801 (3)
    atpgammas 39 3 11410624 (2), 16439434 (1)
    thromboxane 37.7 8 19095646 (1)
    phenylephrine 34.2 1 19298234 (1)
    leucine 31.8 18 12873707 (8), 17126281 (1), 20130087 (1), 16356512 (1) (see all 5)
    nocodazole 30.1 3 15281089 (2), 16257999 (1)



    Find genes that share compounds with PPP1R12A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PPP1R12A gene (5 alternative transcripts): 
    NM_001143885.1  NM_001143886.1  NM_001244990.1  NM_001244992.1  NM_002480.2  

    Unigene Cluster for PPP1R12A:

    Protein phosphatase 1, regulatory subunit 12A
    Hs.49582  [show with all ESTs]
    Unigene Representative Sequence: NM_002480
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000450142(uc001syz.3 uc001szc.2) ENST00000437004 ENST00000546762
    ENST00000550903 ENST00000547253 ENST00000550351 ENST00000550299 ENST00000546369
    ENST00000550107 ENST00000548908(uc001syy.3) ENST00000552892 ENST00000550369
    ENST00000551781 ENST00000553081 ENST00000547330 ENST00000550007 ENST00000547131
    ENST00000550001
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    Additional mRNA sequence: 

    AF086032.1 AF458589.1 AK057712.1 AK125671.1 AK302692.1 AK314193.1 AY380574.1 BC000812.1 
    BC013941.1 BC040375.1 BC047898.1 BC062560.1 BC092481.1 BC111752.1 D87930.1 

    Selected DOTS entries (see all 31):

    DT.98083864  DT.121113766  DT.91789662  DT.449535  DT.100797214  DT.91954837  DT.92437575  DT.75155035 
    DT.70101395  DT.121113898  DT.121113848  DT.40238291  DT.92437563  DT.91728849  DT.91994891  DT.92437564 
    DT.97786017  DT.91897433  DT.97830898  DT.100797210  DT.100797211  DT.100797216  DT.121113780  DT.121113782 

    Selected AceView cDNA sequences (see all 381):

    CB149750 CA394831 AA262664 AI439179 AA972064 CD614965 AW001851 AL699004 
    BM693624 BP376295 BM993875 BU677557 BE731402 AI817183 AK125671 AA599144 
    BF961102 BQ272164 H89329 CB146730 AI948520 CB158601 BG150287 AW149875 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R12A    About this scheme

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


    ECgene alternative splicing isoforms for PPP1R12A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PPP1R12A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACTAGTTG
    PPP1R12A Expression
    About this image


    PPP1R12A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Fibroblasts (Uncategorized)
     
     Esophagus (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Prostate (Endocrine System)
    PPP1R12A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PPP1R12A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.49582

    UniProtKB/Swiss-Prot: MYPT1_HUMAN, O14974
    Tissue specificity: Expressed in striated muscles, specifically in type 2a fibers (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including PPP1R12A: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for PPP1R12A gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppp1r12a1 , 5 protein phosphatase 1, regulatory (inhibitor) subunit more1, 5 88.13(n)1
    92.37(a)1
      10 (56.33 cM)5
    179311  NM_027892.21  NP_082168.11 
     1081624005 
    chicken
    (Gallus gallus)
    Aves PPP1R12A1 protein phosphatase 1, regulatory subunit 12A 82.84(n)
    86.97(a)
      396020  NM_205123.1  NP_990454.1 
    lizard
    (Anolis carolinensis)
    Reptilia PPP1R12A6
    protein phosphatase 1, regulatory subunit 12A
    83(a)
    1 ↔ 1
    5(37377343-37497911)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.91222 Xenopus laevis transcribed sequence with weak similarity more 77.5(n)    BX854020.1 
    zebrafish
    (Danio rerio)
    Actinopterygii srnyz1422 srnyz142 78.62(n)   321347  BM184515.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for PPP1R12A gene
    PPP1R13B2  PPP1R16B2  PPP1R12B2  TP53BP22  PPP1R16A2  PPP1R12C2  PPP1R13L2  
    Selected SIMAP similar genes for PPP1R12A using alignment to 9 protein entries:     MYPT1_HUMAN (see all proteins) (see all similar genes):
    MIB1    ASPG    PPP1R12B    NOTCH3    TP53BP2    ANKRD31
    ESPN    RAI14    FPGT-TNNI3K    ANK3    ANKRD12    CTTNBP2
    FANK1    PPP1R27    ANKRD50    PPP1R13B    YTHDC2    ANKRD32

    Find genes that share paralogs with PPP1R12A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for PPP1R12A (see all 2866)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1841586321,2
    --80166978(+) GAAACA/GGGGTT 5 -- ds50010--------
    rs1466079531,2
    C--80166985(+) GGTTTC/TGCCCT 5 -- ds50010--------
    rs1413271901,2
    C--80167016(+) ACCCCC/TGACCT 5 -- ds50010--------
    rs1888367641,2
    --80167183(+) TGTATC/TGCTAA 5 -- ds50010--------
    rs1815498511,2
    --80167197(+) TATGTC/TTGCAG 5 -- ds50010--------
    rs2019070701,2
    C--80167230(+) TTTAAA/GAAAAA 5 -- ds50010--------
    rs353420111,2
    C--80167231(+) TTAAG-/A/AA  
            
    AAAAA
    5 -- ds50013NA CSA 6
    rs797324781,2
    --80167244(+) AAAAAC/ACAATG 5 -- ds50011Minor allele frequency- A:0.00NA 2
    rs128337271,2
    C,F,H--80167361(+) ACAGAC/GAGCTT 5 -- ut3117Minor allele frequency- G:0.13NA NS EA WA 1454
    rs1862078051,2
    --80167791(+) ATATTA/GGAAAC 5 -- ut310--------

    HapMap Linkage Disequilibrium report for PPP1R12A (80167343 - 80329240 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PPP1R12A (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658648CNV Deletion23128226
    esv2746114CNV Deletion23290073
    nsv507659CNV Insertion20534489
    nsv787CNV Insertion18451855
    nsv786CNV Insertion18451855
    esv268634CNV Insertion20981092
    esv267837CNV Insertion20981092
    nsv818927CNV Loss17921354
    nsv510306CNV Loss20534489
    nsv899336CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PPP1R12A
    DNA2.0 Custom Variant and Variant Library Synthesis for PPP1R12A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602021    OMIM disorders: --

    1 disease for PPP1R12A:    
    About MalaCards
    moebius syndrome

    2 diseases from the University of Copenhagen DISEASES database for PPP1R12A:
    Medulloblastoma     Cerebrovascular accident

    Find genes that share disorders with PPP1R12A           About GenesLikeMe

    2 Novoseek inferred disease relationships for PPP1R12A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertension portal 9.5 1 16356512 (1)
    edema 0 1 14709404 (1)

    Genetic Association Database (GAD): PPP1R12A
    Human Genome Epidemiology (HuGE) Navigator: PPP1R12A (2 documents)

    Export disorders for PPP1R12A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for PPP1R12A gene, integrated from 10 sources (see all 181):
    (articles sorted by number of sources associating them with PPP1R12A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of the gene coding for myosin phosphatase, target subunit 1 (MYPT1) to human chromosome 12q15-q21. (PubMed id 9286714)1, 2, 3, 9 Takahashi N....Takemura K. (Genomics 1997)
    2. Myosin phosphatase-targeting subunit 1 regulates mitosis by antagonizing polo-like kinase 1. (PubMed id 18477460)1, 2, 9 Yamashiro S.... Matsumura F. (Dev. Cell 2008)
    3. Interactions between the leucine-zipper motif of cGMP-dependent protein kinase and the C-terminal region of the targeting subunit of myosin light chain phosphatase. (PubMed id 17904578)1, 2, 9 Lee E.... Tao T.C. (J. Mol. Biol. 2007)
    4. MYPT1, the targeting subunit of smooth-muscle myosin phosphatase, is a substrate for the asparaginyl hydroxylase factor inhibiting hypoxia- inducible factor (FIH). (PubMed id 19245366)1, 2, 9 Webb J.D.... Coleman M.L. (Biochem. J. 2009)
    5. Solution structure of the inhibitory phosphorylation domain of myosin phosphatase targeting subunit 1. (PubMed id 19701943)1, 2, 9 Mori S.... Ohki S.-Y. (Proteins 2009)
    6. Molecular cloning and analysis of the 5'-flanking region of human MYPT1 gene. (PubMed id 11342221)1, 2, 9 Machida H....Nakano T. (Biochim. Biophys. Acta 2001)
    7. Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity. (PubMed id 11287000)1, 2, 9 Muranyi A....Hartshorne D.J. (FEBS Lett. 2001)
    8. Regulation of myosin phosphatase by a specific interaction with cGMP- dependent protein kinase Ialpha. (PubMed id 10567269)1, 2, 9 Surks H.K.... Mendelsohn M.E. (Science 1999)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Smoothelin-like 1 protein regulates myosin phosphatase-targeting subunit 1 expression during sexual development and pregnancy. (PubMed id 20634291)1, 2 Lontay B.... Haystead T.A. (J. Biol. Chem. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4659 HGNC: 7618 AceView: PPP1R12A Ensembl:ENSG00000058272 euGenes: HUgn4659
    ECgene: PPP1R12A Kegg: 4659 H-InvDB: PPP1R12A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PPP1R12A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PPP1R12A gene:
    Search GeneIP for patents involving PPP1R12A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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