Human Gene PPP1R12A (ENST00000450142.7_10) from GENCODE V47lift37
  Description: protein phosphatase 1 regulatory subunit 12A, transcript variant 1 (from RefSeq NM_002480.3)
Gencode Transcript: ENST00000450142.7_10
Gencode Gene: ENSG00000058272.19_15
Transcript (Including UTRs)
   Position: hg19 chr12:80,167,348-80,328,877 Size: 161,530 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr12:80,169,709-80,328,711 Size: 159,003 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:80,167,348-80,328,877)mRNA (may differ from genome)Protein (1030 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYPT1_HUMAN
DESCRIPTION: RecName: Full=Protein phosphatase 1 regulatory subunit 12A; AltName: Full=Myosin phosphatase-targeting subunit 1; Short=Myosin phosphatase target subunit 1; AltName: Full=Protein phosphatase myosin-binding subunit;
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.
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.
SUBCELLULAR LOCATION: Cytoplasm. Note=Along actomyosin filaments and stress fibers.
TISSUE SPECIFICITY: Expressed in striated muscles, specifically in type 2a fibers (at protein level).
DEVELOPMENTAL STAGE: Induced by 2-fold during pregnancy, including in abdominus rectus muscle.
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.
PTM: 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.
SIMILARITY: Contains 6 ANK repeats.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PPP1R12A
Diseases sorted by gene-association score: infratentorial cancer (2), medullomyoblastoma (1), adult medulloblastoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.50 RPKM in Esophagus - Muscularis
Total median expression: 858.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -50.90166-0.307 Picture PostScript Text
3' UTR -538.602361-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR017401 - Pase-1_reg_su_12A/B/C_euk

Pfam Domains:
PF00023 - Ankyrin repeat
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)
PF15898 - cGMP-dependent protein kinase interacting domain

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
48403 - Ankyrin repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KJY - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O14974
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004857 enzyme inhibitor activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0019208 phosphatase regulator activity
GO:0019901 protein kinase binding
GO:0071889 14-3-3 protein binding

Biological Process:
GO:0000278 mitotic cell cycle
GO:0006470 protein dephosphorylation
GO:0007098 centrosome cycle
GO:0007165 signal transduction
GO:0030155 regulation of cell adhesion
GO:0035507 regulation of myosin-light-chain-phosphatase activity
GO:0035508 positive regulation of myosin-light-chain-phosphatase activity
GO:0035690 cellular response to drug
GO:0043086 negative regulation of catalytic activity
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046822 regulation of nucleocytoplasmic transport
GO:1903140 regulation of establishment of endothelial barrier

Cellular Component:
GO:0000776 kinetochore
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005925 focal adhesion
GO:0015629 actin cytoskeleton
GO:0030018 Z disc
GO:0031672 A band
GO:0043292 contractile fiber
GO:0072357 PTW/PP1 phosphatase complex


-  Descriptions from all associated GenBank mRNAs
  LF208885 - JP 2014500723-A/16388: Polycomb-Associated Non-Coding RNAs.
D87930 - Homo sapiens mRNA for myosin phosphatase target subunit 1 (MYPT1).
AF458589 - Homo sapiens myosin phosphatase target subunit 1 variant (PPP1R12A) mRNA, complete cds.
BC111752 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 12A, mRNA (cDNA clone MGC:133042 IMAGE:40008469), complete cds.
AK302692 - Homo sapiens cDNA FLJ50923 complete cds, highly similar to Protein phosphatase 1 regulatory subunit 12A.
AY380574 - Homo sapiens myosin phosphatase target subunit 1 variant 2 mRNA, complete cds.
AK314193 - Homo sapiens cDNA, FLJ94919, highly similar to Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 12A (PPP1R12A), mRNA.
KJ897219 - Synthetic construct Homo sapiens clone ccsbBroadEn_06613 PPP1R12A gene, encodes complete protein.
BC092481 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 12A, mRNA (cDNA clone IMAGE:4811514), partial cds.
BC062560 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 12A, mRNA (cDNA clone IMAGE:6644870).
BC047898 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 12A, mRNA (cDNA clone IMAGE:5755588), partial cds.
BC000812 - Homo sapiens, Similar to myosin phosphatase, target subunit 1, clone IMAGE:3453119, mRNA.
MA444462 - JP 2018138019-A/16388: Polycomb-Associated Non-Coding RNAs.
AF086032 - Homo sapiens full length insert cDNA clone YW25G09.
LF323751 - JP 2014500723-A/131254: Polycomb-Associated Non-Coding RNAs.
LF323750 - JP 2014500723-A/131253: Polycomb-Associated Non-Coding RNAs.
LF323749 - JP 2014500723-A/131252: Polycomb-Associated Non-Coding RNAs.
LF323748 - JP 2014500723-A/131251: Polycomb-Associated Non-Coding RNAs.
BC040375 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 12A, mRNA (cDNA clone IMAGE:4499199), with apparent retained intron.
JD381657 - Sequence 362681 from Patent EP1572962.
JD267144 - Sequence 248168 from Patent EP1572962.
JD131062 - Sequence 112086 from Patent EP1572962.
JD205788 - Sequence 186812 from Patent EP1572962.
JD540584 - Sequence 521608 from Patent EP1572962.
JD566431 - Sequence 547455 from Patent EP1572962.
JD087315 - Sequence 68339 from Patent EP1572962.
JD410244 - Sequence 391268 from Patent EP1572962.
LF323747 - JP 2014500723-A/131250: Polycomb-Associated Non-Coding RNAs.
JD359654 - Sequence 340678 from Patent EP1572962.
JD235498 - Sequence 216522 from Patent EP1572962.
JD275278 - Sequence 256302 from Patent EP1572962.
AK057712 - Homo sapiens cDNA FLJ33150 fis, clone UTERU2000260.
AK125671 - Homo sapiens cDNA FLJ43683 fis, clone TBAES2001296.
LF323746 - JP 2014500723-A/131249: Polycomb-Associated Non-Coding RNAs.
LF323743 - JP 2014500723-A/131246: Polycomb-Associated Non-Coding RNAs.
LF323742 - JP 2014500723-A/131245: Polycomb-Associated Non-Coding RNAs.
LF323741 - JP 2014500723-A/131244: Polycomb-Associated Non-Coding RNAs.
LF323736 - JP 2014500723-A/131239: Polycomb-Associated Non-Coding RNAs.
LF323735 - JP 2014500723-A/131238: Polycomb-Associated Non-Coding RNAs.
LF323734 - JP 2014500723-A/131237: Polycomb-Associated Non-Coding RNAs.
BC013941 - Homo sapiens, clone IMAGE:4044134, mRNA, partial cds.
LF323733 - JP 2014500723-A/131236: Polycomb-Associated Non-Coding RNAs.
LF323732 - JP 2014500723-A/131235: Polycomb-Associated Non-Coding RNAs.
LF323729 - JP 2014500723-A/131232: Polycomb-Associated Non-Coding RNAs.
LF323728 - JP 2014500723-A/131231: Polycomb-Associated Non-Coding RNAs.
LF323727 - JP 2014500723-A/131230: Polycomb-Associated Non-Coding RNAs.
LF323726 - JP 2014500723-A/131229: Polycomb-Associated Non-Coding RNAs.
LF323725 - JP 2014500723-A/131228: Polycomb-Associated Non-Coding RNAs.
LF323724 - JP 2014500723-A/131227: Polycomb-Associated Non-Coding RNAs.
LF323720 - JP 2014500723-A/131223: Polycomb-Associated Non-Coding RNAs.
LF323716 - JP 2014500723-A/131219: Polycomb-Associated Non-Coding RNAs.
LF323715 - JP 2014500723-A/131218: Polycomb-Associated Non-Coding RNAs.
MA559328 - JP 2018138019-A/131254: Polycomb-Associated Non-Coding RNAs.
MA559327 - JP 2018138019-A/131253: Polycomb-Associated Non-Coding RNAs.
MA559326 - JP 2018138019-A/131252: Polycomb-Associated Non-Coding RNAs.
MA559325 - JP 2018138019-A/131251: Polycomb-Associated Non-Coding RNAs.
MA559324 - JP 2018138019-A/131250: Polycomb-Associated Non-Coding RNAs.
MA559323 - JP 2018138019-A/131249: Polycomb-Associated Non-Coding RNAs.
MA559320 - JP 2018138019-A/131246: Polycomb-Associated Non-Coding RNAs.
MA559319 - JP 2018138019-A/131245: Polycomb-Associated Non-Coding RNAs.
MA559318 - JP 2018138019-A/131244: Polycomb-Associated Non-Coding RNAs.
MA559313 - JP 2018138019-A/131239: Polycomb-Associated Non-Coding RNAs.
MA559312 - JP 2018138019-A/131238: Polycomb-Associated Non-Coding RNAs.
MA559311 - JP 2018138019-A/131237: Polycomb-Associated Non-Coding RNAs.
MA559310 - JP 2018138019-A/131236: Polycomb-Associated Non-Coding RNAs.
MA559309 - JP 2018138019-A/131235: Polycomb-Associated Non-Coding RNAs.
MA559306 - JP 2018138019-A/131232: Polycomb-Associated Non-Coding RNAs.
MA559305 - JP 2018138019-A/131231: Polycomb-Associated Non-Coding RNAs.
MA559304 - JP 2018138019-A/131230: Polycomb-Associated Non-Coding RNAs.
MA559303 - JP 2018138019-A/131229: Polycomb-Associated Non-Coding RNAs.
MA559302 - JP 2018138019-A/131228: Polycomb-Associated Non-Coding RNAs.
MA559301 - JP 2018138019-A/131227: Polycomb-Associated Non-Coding RNAs.
MA559297 - JP 2018138019-A/131223: Polycomb-Associated Non-Coding RNAs.
MA559293 - JP 2018138019-A/131219: Polycomb-Associated Non-Coding RNAs.
MA559292 - JP 2018138019-A/131218: Polycomb-Associated Non-Coding RNAs.
LF323710 - JP 2014500723-A/131213: Polycomb-Associated Non-Coding RNAs.
LF323703 - JP 2014500723-A/131206: Polycomb-Associated Non-Coding RNAs.
LF323700 - JP 2014500723-A/131203: Polycomb-Associated Non-Coding RNAs.
MA559287 - JP 2018138019-A/131213: Polycomb-Associated Non-Coding RNAs.
MA559280 - JP 2018138019-A/131206: Polycomb-Associated Non-Coding RNAs.
MA559277 - JP 2018138019-A/131203: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O14974 (Reactome details) participates in the following event(s):

R-HSA-419083 Myosin phosphatase inactivation by ROCK
R-HSA-5668947 PAK1 phosphorylates myosin phosphatase
R-HSA-5671772 p-T38-PPP1R14A binds MLCP
R-HSA-419232 Myosin phosphatase dephosphorylates myosin regulatory light chain
R-HSA-3002811 Myosin phosphatase dephosphorylates PLK1
R-HSA-5627117 RHO GTPases Activate ROCKs
R-HSA-5627123 RHO GTPases activate PAKs
R-HSA-5625740 RHO GTPases activate PKNs
R-HSA-195258 RHO GTPase Effectors
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-194315 Signaling by Rho GTPases
R-HSA-69275 G2/M Transition
R-HSA-162582 Signal Transduction
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: B4DZ09, ENST00000450142.1, ENST00000450142.2, ENST00000450142.3, ENST00000450142.4, ENST00000450142.5, ENST00000450142.6, F8VWB4, MBS, MYPT1 , MYPT1_HUMAN, NM_002480, O14974, PPP1R12A , Q2NKL4, Q569H0, Q86WU3, Q8NFR6, Q9BYH0, uc320rpg.1, uc320rpg.2
UCSC ID: ENST00000450142.7_10
RefSeq Accession: NM_002480.3
Protein: O14974 (aka MYPT1_HUMAN or MPT1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PPP1R12A:
hpe-overview (Holoprosencephaly Overview)
ppp1r12a-ubm (PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.