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PPP1R12A protein phosphatase 1 regulatory subunit 12A [ Homo sapiens (human) ]

Gene ID: 4659, updated on 11-Apr-2024

Summary

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Official Symbol
PPP1R12Aprovided by HGNC
Official Full Name
protein phosphatase 1 regulatory subunit 12Aprovided by HGNC
Primary source
HGNC:HGNC:7618
See related
Ensembl:ENSG00000058272 MIM:602021; AllianceGenome:HGNC:7618
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MBS; GUBS; M130; MYPT1
Summary
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]
Expression
Ubiquitous expression in endometrium (RPKM 18.7), esophagus (RPKM 16.4) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See PPP1R12A in Genome Data Viewer
Location:
12q21.2-q21.31
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (79773563..79935460, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (79752233..79914115, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (80167343..80329240, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NOP56 ribonucleoprotein pseudogene 3 Neighboring gene pro-apoptotic WT1 regulator Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:80048601-80049285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4681 Neighboring gene PPP1R12A antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80104382-80104890 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80177965-80178557 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80178558-80179149 Neighboring gene uncharacterized LOC124902974 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:80268321-80268858 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:80268859-80269395 Neighboring gene RNA, 5S ribosomal pseudogene 363 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:80327697-80328262 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:80328263-80328826 and GRCh37_chr12:80328827-80329392 Neighboring gene PPP1R12A antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80396803-80397347 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 20 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 20

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase. Picard JY, et al. Hum Reprod, 2022 Nov 24. PMID 36331510
  2. MYPT1 inhibits the metastasis of renal clear cell carcinoma via the MAPK8/N-cadherin pathway. Xie Q, et al. FEBS Open Bio, 2022 Nov. PMID 36106411, Free PMC Article
  3. Complex Transcriptional Profiles of the PPP1R12A Gene in Cells of the Circulatory System as Revealed by In Silico Analysis and Reverse Transcription PCR. Saldanha PA, et al. Cells, 2022 Jul 27. PMID 35954160, Free PMC Article
  4. PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome. Adam MP, et al. , 1993. PMID 34499436
  5. Haplotype-based, case-control study of myosin phosphatase target subunit 1 (PPP1R12A) gene and hypertensive disorders of pregnancy. Kono A, et al. Hypertens Pregnancy, 2021 Feb. PMID 33459569

See all (215) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PPP1R12A is a recycling endosomal phosphatase that facilitates YAP activation.
    Title: PPP1R12A is a recycling endosomal phosphatase that facilitates YAP activation.
  2. Persistent Mullerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
    Title: Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
  3. MYPT1 inhibits the metastasis of renal clear cell carcinoma via the MAPK8/N-cadherin pathway.
    Title: MYPT1 inhibits the metastasis of renal clear cell carcinoma via the MAPK8/N-cadherin pathway.
  4. Complex Transcriptional Profiles of the PPP1R12A Gene in Cells of the Circulatory System as Revealed by In Silico Analysis and Reverse Transcription PCR.
    Title: Complex Transcriptional Profiles of the PPP1R12A Gene in Cells of the Circulatory System as Revealed by In Silico Analysis and Reverse Transcription PCR.
  5. Tissue-specific expression of myosin phosphatase subunits and isoforms in smooth muscle of mice and humans.
    Title: Tissue-specific expression of myosin phosphatase subunits and isoforms in smooth muscle of mice and humans.
  6. Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.
    Title: Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.
  7. CircPPP1R12A promotes the progression of colon cancer through regulating CTNNB1 via sponging miR-375.
    Title: CircPPP1R12A promotes the progression of colon cancer through regulating CTNNB1 via sponging miR-375.
  8. Haplotype-based, case-control study of myosin phosphatase target subunit 1 (PPP1R12A) gene and hypertensive disorders of pregnancy.
    Title: Haplotype-based, case-control study of myosin phosphatase target subunit 1 (PPP1R12A) gene and hypertensive disorders of pregnancy.
  9. O-GlcNAc modification of MYPT1 modulates lysophosphatidic acid-induced cell contraction in fibroblasts.
    Title: O-GlcNAc modification of MYPT1 modulates lysophosphatidic acid-induced cell contraction in fibroblasts.
  10. MYPT1, regulated by miR-19b-3p inhibits the progression of non-small cell lung cancer via inhibiting the activation of wnt/beta-catenin signaling.
    Title: MYPT1, regulated by miR-19b-3p inhibits the progression of non-small cell lung cancer via inhibiting the activation of wnt/β-catenin signaling.
Submit: New GeneRIF Correction See all GeneRIFs (64)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Treatment of human brain endothelial cells with Tat markedly elevate GTP-RhoA levels and the potential downstream effectors, such as myosin phosphatase target subunit 1 and myosin light chain PubMed
nucleocapsid gag HIV-1 NC is identified to have a physical interaction with protein phosphatase 1, regulatory subunit 12A (PPP1R12A; YMPT1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC133042

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 14-3-3 protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables enzyme inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatase regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatase regulator activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in centrosome cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of catalytic activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of myosin-light-chain-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of myosin-light-chain-phosphatase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein dephosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in regulation of establishment of endothelial barrier IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of myosin-light-chain-phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of nucleocytoplasmic transport IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in A band IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in A band ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of PTW/PP1 phosphatase complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in contractile muscle fiber IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in focal adhesion HDA PubMed 
located_in kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in stress fiber IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein phosphatase 1 regulatory subunit 12A
Names
myosin binding subunit
myosin phosphatase, target subunit 1
myosin phosphatase-targeting subunit 1
protein phosphatase 1, regulatory (inhibitor) subunit 12A
protein phosphatase myosin-binding subunit

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001143885.2 → NP_001137357.1  protein phosphatase 1 regulatory subunit 12A isoform a

    See identical proteins and their annotated locations for NP_001137357.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AC073569, AC074270, AF458589, AK314193, BC111752
    Consensus CDS
    CCDS44947.1
    UniProtKB/Swiss-Prot
    B4DZ09, F8VWB4, O14974, Q2NKL4, Q569H0, Q86WU3, Q8NFR6, Q9BYH0
    UniProtKB/TrEMBL
    B2RAH5
    Related
    ENSP00000261207.5, ENST00000261207.9
    Conserved Domains (5) summary
    cd00204
    Location:67 → 252
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:47 → 136
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:199 → 252
    Ank_4; Ankyrin repeats (many copies)
    pfam15898
    Location:931 → 1029
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:72 → 103
    ANK; ANK repeat [structural motif]

  2. NM_001143886.2 → NP_001137358.1  protein phosphatase 1 regulatory subunit 12A isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC073569, AK302692, BC111752
    Consensus CDS
    CCDS44948.1
    UniProtKB/TrEMBL
    B2RAH5
    Related
    ENSP00000449514.1, ENST00000546369.5
    Conserved Domains (5) summary
    cd00204
    Location:13 → 165
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam13637
    Location:112 → 165
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:5 → 58
    Ank_5; Ankyrin repeats (many copies)
    pfam15898
    Location:844 → 942
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:18 → 49
    ANK; ANK repeat [structural motif]

  3. NM_001244990.2 → NP_001231919.1  protein phosphatase 1 regulatory subunit 12A isoform c

    See identical proteins and their annotated locations for NP_001231919.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an exon in the coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AC018476, AC073569, AC074270
    Consensus CDS
    CCDS58260.1
    UniProtKB/TrEMBL
    B2RAH5
    Related
    ENSP00000416769.2, ENST00000437004.6
    Conserved Domains (5) summary
    cd00204
    Location:67 → 252
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:47 → 136
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:199 → 252
    Ank_4; Ankyrin repeats (many copies)
    pfam15898
    Location:933 → 994
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:72 → 103
    ANK; ANK repeat [structural motif]

  4. NM_001244992.1 → NP_001231921.1  protein phosphatase 1 regulatory subunit 12A isoform d

    See identical proteins and their annotated locations for NP_001231921.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon in the coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AC018476, AC073569, AC074270
    Consensus CDS
    CCDS58259.1
    UniProtKB/TrEMBL
    B2RAH5
    Related
    ENSP00000446855.1, ENST00000550107.5
    Conserved Domains (5) summary
    cd00204
    Location:67 → 252
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:47 → 136
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:199 → 252
    Ank_4; Ankyrin repeats (many copies)
    pfam15898
    Location:875 → 973
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:72 → 103
    ANK; ANK repeat [structural motif]

  5. NM_002480.3 → NP_002471.1  protein phosphatase 1 regulatory subunit 12A isoform a

    See identical proteins and their annotated locations for NP_002471.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AC073569, AK314193, BC111752, DC350703
    Consensus CDS
    CCDS44947.1
    UniProtKB/Swiss-Prot
    B4DZ09, F8VWB4, O14974, Q2NKL4, Q569H0, Q86WU3, Q8NFR6, Q9BYH0
    UniProtKB/TrEMBL
    B2RAH5
    Related
    ENSP00000389168.2, ENST00000450142.7
    Conserved Domains (5) summary
    cd00204
    Location:67 → 252
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:47 → 136
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:199 → 252
    Ank_4; Ankyrin repeats (many copies)
    pfam15898
    Location:931 → 1029
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:72 → 103
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    79773563..79935460 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    79752233..79914115 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14974.1 GenPept UniProtKB/Swiss-Prot:O14974

Gene LinkOut

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