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

    Gene ID: 4659, updated on 13-Sep-2021

    Summary

    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See PPP1R12A in Genome Data Viewer
    Location:
    12q21.2-q21.31
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (79773563..79935460, complement)
    105.20201022 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 PPP1R12A antisense RNA 2 Neighboring gene RNA, 5S ribosomal pseudogene 363 Neighboring gene Sharpr-MPRA regulatory region 5962 Neighboring gene PPP1R12A antisense RNA 1 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genitourinary and/or brain malformation syndrome
    MedGen: C5394158 OMIM: 618820 GeneReviews: Not available
    Compare labs
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    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 
    Component Evidence Code Pubs
    is_active_in A band IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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 fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
     

    General protein information

    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)

    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_001143885.2NP_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
      O14974
      UniProtKB/TrEMBL
      B2RAH5
      Related
      ENSP00000261207.5, ENST00000261207.9
      Conserved Domains (5) summary
      cd00204
      Location:67252
      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:47136
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:199252
      Ank_4; Ankyrin repeats (many copies)
      pfam15898
      Location:9311029
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      sd00045
      Location:72103
      ANK; ANK repeat [structural motif]
    2. NM_001143886.2NP_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/Swiss-Prot
      O14974
      Related
      ENSP00000449514.1, ENST00000546369.5
      Conserved Domains (5) summary
      cd00204
      Location:13165
      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:112165
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:558
      Ank_5; Ankyrin repeats (many copies)
      pfam15898
      Location:844942
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      sd00045
      Location:1849
      ANK; ANK repeat [structural motif]
    3. NM_001244990.2NP_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/Swiss-Prot
      O14974
      Related
      ENSP00000416769.2, ENST00000437004.6
      Conserved Domains (5) summary
      cd00204
      Location:67252
      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:47136
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:199252
      Ank_4; Ankyrin repeats (many copies)
      pfam15898
      Location:933994
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      sd00045
      Location:72103
      ANK; ANK repeat [structural motif]
    4. NM_001244992.1NP_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/Swiss-Prot
      O14974
      Related
      ENSP00000446855.1, ENST00000550107.5
      Conserved Domains (5) summary
      cd00204
      Location:67252
      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:47136
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:199252
      Ank_4; Ankyrin repeats (many copies)
      pfam15898
      Location:875973
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      sd00045
      Location:72103
      ANK; ANK repeat [structural motif]
    5. NM_002480.3NP_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
      O14974
      UniProtKB/TrEMBL
      B2RAH5
      Related
      ENSP00000389168.2, ENST00000450142.7
      Conserved Domains (5) summary
      cd00204
      Location:67252
      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:47136
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:199252
      Ank_4; Ankyrin repeats (many copies)
      pfam15898
      Location:9311029
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      sd00045
      Location:72103
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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