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    PPP1R12C protein phosphatase 1 regulatory subunit 12C [ Homo sapiens (human) ]

    Gene ID: 54776, updated on 6-Jun-2024

    Summary

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    Official Symbol
    PPP1R12Cprovided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory subunit 12Cprovided by HGNC
    Primary source
    HGNC:HGNC:14947
    See related
    Ensembl:ENSG00000125503 MIM:613245; AllianceGenome:HGNC:14947
    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
    p84; p85; AAVS1; LENG3; MBS85
    Summary
    The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
    Expression
    Ubiquitous expression in testis (RPKM 32.8), endometrium (RPKM 32.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1R12C in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55090918..55117637, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58185408..58211313, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55602286..55629005, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene GP6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55555893-55556394 Neighboring gene retinol dehydrogenase 13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55572859-55573826 Neighboring gene MPRA-validated peak3563 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55587691-55588416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55591665-55592622 Neighboring gene EPS8 signaling adaptor L1 Neighboring gene Sharpr-MPRA regulatory region 11471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55624596-55625222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55625223-55625849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55627401-55628236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15076 Neighboring gene microRNA 7975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15077 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:55652829-55653333 Neighboring gene troponin T1, slow skeletal type

    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. Adeno-associated virus Rep represses the human integration site promoter by two pathways that are similar to those required for the regulation of the viral p5 promoter. Dutheil N, et al. J Virol, 2014 Aug. PMID 24829354, Free PMC Article
    2. Genome editing of human embryonic stem cells and induced pluripotent stem cells with zinc finger nucleases for cellular imaging. Wang Y, et al. Circ Res, 2012 Dec 7. PMID 22967807, Free PMC Article
    3. Chemical genetic screen for AMPKα2 substrates uncovers a network of proteins involved in mitosis. Banko MR, et al. Mol Cell, 2011 Dec 23. PMID 22137581, Free PMC Article
    4. p116Rip targets myosin phosphatase to the actin cytoskeleton and is essential for RhoA/ROCK-regulated neuritogenesis. Mulder J, et al. Mol Biol Cell, 2004 Dec. PMID 15469989, Free PMC Article
    5. Myosin phosphatase-Rho interacting protein. A new member of the myosin phosphatase complex that directly binds RhoA. Surks HK, et al. J Biol Chem, 2003 Dec 19. PMID 14506264

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PPP1R12C Promotes Atrial Hypocontractility in Atrial Fibrillation.
      Title: PPP1R12C Promotes Atrial Hypocontractility in Atrial Fibrillation.
    2. Authors demonstrate that Rep proteins of adeno-associated virus serotype 2 efficiently repress expression from the target site PPP1R12C promoter.
      Title: Adeno-associated virus Rep represses the human integration site promoter by two pathways that are similar to those required for the regulation of the viral p5 promoter.
    3. M-RIP can assemble a complex containing both RhoA and Myosin phosphatase myosin binding subunit, suggesting that M-RIP may play a role in myosin phosphatase regulation by RhoA
      Title: Myosin phosphatase-Rho interacting protein. A new member of the myosin phosphatase complex that directly binds RhoA.
    Submit: New GeneRIF Correction

    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

    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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    Replication interactions

    Interaction Pubs
    Knockdown of protein phosphatase 1, regulatory subunit 12C (PPP1R12C) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 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

    • DKFZp434D0412

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    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 12C
    Names
    leukocyte receptor cluster (LRC) encoded novel gene 3
    leukocyte receptor cluster (LRC) member 3
    myosin-binding subunit 85
    protein phosphatase 1 myosin-binding subunit of 85 kDa
    protein phosphatase 1 myosin-binding subunit p85
    protein phosphatase 1, regulatory (inhibitor) subunit 12C

    NCBI Reference Sequences (RefSeq)

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    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_001271618.2 → NP_001258547.1  protein phosphatase 1 regulatory subunit 12C isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site. The encoded isoform (b) is shorter compared to isoform a.
      Source sequence(s)
      AA551617, AB209452, AC010327, AF312028, BC008030, HY013088
      UniProtKB/TrEMBL
      K7EL81
      Related
      ENSP00000465957.1, ENST00000592993.1
      Conserved Domains (6) summary
      cd00204
      Location:95 → 279
      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:105 → 257
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:246 → 300
      Ank_5; Ankyrin repeats (many copies)
      pfam15265
      Location:423 → 621
      FAM196; FAM196 family
      pfam15898
      Location:681 → 779
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      sd00045
      Location:100 → 131
      ANK; ANK repeat [structural motif]

    2. NM_017607.4 → NP_060077.1  protein phosphatase 1 regulatory subunit 12C isoform a

      See identical proteins and their annotated locations for NP_060077.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a)
      Source sequence(s)
      AC010327, AF312028, HY013088
      Consensus CDS
      CCDS12916.1
      UniProtKB/Swiss-Prot
      B4DME2, Q59FK8, Q6ZPD1, Q7L8F7, Q96HW1, Q9BZL4, Q9H5H5, Q9NT00
      UniProtKB/TrEMBL
      K7EL81
      Related
      ENSP00000263433.1, ENST00000263433.8
      Conserved Domains (6) summary
      cd00204
      Location:95 → 279
      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:105 → 257
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:246 → 300
      Ank_5; Ankyrin repeats (many copies)
      pfam15265
      Location:424 → 624
      FAM196; FAM196 family
      pfam15898
      Location:683 → 781
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      sd00045
      Location:100 → 131
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55090918..55117637 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527045.3 → XP_011525347.1  protein phosphatase 1 regulatory subunit 12C isoform X2

      UniProtKB/TrEMBL
      K7EL81
      Conserved Domains (6) summary
      cd00204
      Location:95 → 279
      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:105 → 257
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:246 → 300
      Ank_5; Ankyrin repeats (many copies)
      pfam15265
      Location:423 → 623
      FAM196; FAM196 family
      pfam15898
      Location:682 → 780
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      sd00045
      Location:100 → 131
      ANK; ANK repeat [structural motif]

    2. XM_005259013.5 → XP_005259070.1  protein phosphatase 1 regulatory subunit 12C isoform X1

      UniProtKB/TrEMBL
      K7EL81
      Related
      ENSP00000387833.2, ENST00000435544.6
      Conserved Domains (6) summary
      cd00204
      Location:95 → 279
      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:105 → 257
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:246 → 300
      Ank_5; Ankyrin repeats (many copies)
      pfam15265
      Location:424 → 622
      FAM196; FAM196 family
      pfam15898
      Location:682 → 780
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      sd00045
      Location:100 → 131
      ANK; ANK repeat [structural motif]

    RNA

    1. XR_007066879.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58185408..58211313 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321302.1 → XP_054177277.1  protein phosphatase 1 regulatory subunit 12C isoform X2

      UniProtKB/TrEMBL
      K7EL81

    2. XM_054321301.1 → XP_054177276.1  protein phosphatase 1 regulatory subunit 12C isoform X1

      UniProtKB/TrEMBL
      K7EL81

    RNA

    1. XR_008485166.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZL4.1 GenPept UniProtKB/Swiss-Prot:Q9BZL4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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