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

Gene ID: 54776, updated on 2-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55090918..55117637, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58185408..58211313, complement)
RS_2024_09 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 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. PPP1R12C Promotes Atrial Hypocontractility in Atrial Fibrillation. Perike S, et al. Circ Res, 2023 Oct 13. PMID 37737016, Free PMC Article
  2. 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
  3. 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
  4. 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
  5. 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

See all (43) 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 myosin 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 neuron projection morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2024_08

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

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

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

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