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    PPP1CB protein phosphatase 1 catalytic subunit beta [ Homo sapiens (human) ]

    Gene ID: 5500, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PPP1CBprovided by HGNC
    Official Full Name
    protein phosphatase 1 catalytic subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:9282
    See related
    Ensembl:ENSG00000213639 MIM:600590; AllianceGenome:HGNC:9282
    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
    MP; PP1B; PP1c; NSLH2; PP-1B; PPP1CD; PP1beta; PPP1beta; HEL-S-80p
    Summary
    The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in esophagus (RPKM 80.9), prostate (RPKM 58.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1CB in Genome Data Viewer
    Location:
    2p23.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (28751604..28802940)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (28795220..28846552)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (28974470..29025806)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11701 Neighboring gene RNA, 5S ribosomal pseudogene 89 Neighboring gene uncharacterized LOC100505774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:28945848-28946348 Neighboring gene MPRA-validated peak3641 silencer Neighboring gene PPP1CB divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11311 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:28974622-28975266 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:28978040-28978253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11313 Neighboring gene speedy/RINGO cell cycle regulator family member A Neighboring gene tRNA methyltransferase 61B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:29091169-29091684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:29091685-29092199 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:29092829-29093353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15527 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:29105260-29105423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11315 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:29117677-29118300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:29118301-29118922 Neighboring gene WD repeat domain 43 Neighboring gene small nucleolar RNA, C/D box 92

    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. Molecular and linkage analysis of type-1 protein phosphatase catalytic beta-subunit gene: lack of evidence for its major role in insulin resistance in Pima Indians. Prochazka M, et al. Diabetologia, 1995 Apr. PMID 7796987
    2. Protein Phosphatase 1 Beta is Modulated by Chronic Hypoxia and Involved in the Angiogenic Endothelial Cell Migration. Iacobazzi D, et al. Cell Physiol Biochem, 2015. PMID 25967976
    3. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Gripp KW, et al. Am J Med Genet A, 2016 Sep. PMID 27264673, Free PMC Article
    4. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Ma L, et al. Hum Genet, 2016 Dec. PMID 27681385, Free PMC Article
    5. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. Bertola D, et al. Am J Med Genet A, 2017 Mar. PMID 28211982

    See all (278) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Histones Methyltransferase NSD3 Inhibits Lung Adenocarcinoma Glycolysis Through Interacting with PPP1CB to Decrease STAT3 Signaling Pathway.
      Title: Histones Methyltransferase NSD3 Inhibits Lung Adenocarcinoma Glycolysis Through Interacting with PPP1CB to Decrease STAT3 Signaling Pathway.
    2. PP-1beta and PP-2Aalpha modulate cAMP response element-binding protein (CREB) functions in aging control and stress response through de-regulation of alphaB-crystallin gene and p300-p53 signaling axis.
      Title: PP-1β and PP-2Aα modulate cAMP response element-binding protein (CREB) functions in aging control and stress response through de-regulation of αB-crystallin gene and p300-p53 signaling axis.
    3. The expression and clinical prognostic value of protein phosphatase 1 catalytic subunit beta in pancreatic cancer.
      Title: The expression and clinical prognostic value of protein phosphatase 1 catalytic subunit beta in pancreatic cancer.
    4. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
      Title: Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
    5. Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
      Title: Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
    6. A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.
      Title: A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.
    7. Integrative genomics analysis of eQTL and GWAS summary data identifies PPP1CB as a novel bone mineral density risk genes.
      Title: Integrative genomics analysis of eQTL and GWAS summary data identifies PPP1CB as a novel bone mineral density risk genes.
    8. The association of MYPT1 with PP1cbeta was profoundly reduced in the presence of excess TIMAP, leading to proteasomal MYPT1 degradation.
      Title: TIMAP inhibits endothelial myosin light chain phosphatase by competing with MYPT1 for the catalytic protein phosphatase 1 subunit PP1cβ.
    9. our experiments support that PPP1CB and KPC2 together inhibit the activity of HOXA2 by activating its nuclear export, but favored HOXA2 de-ubiquitination and stabilization thereby establishing a store of HOXA2 in the cytoplasm.
      Title: HOXA2 activity regulation by cytoplasmic relocation, protein stabilization and post-translational modification.
    10. PPP1CB mutation is associated with Noonan syndrome.
      Title: Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    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

    Associated conditions

    Description Tests
    Noonan syndrome-like disorder with loose anagen hair 2
    MedGen: C4479577 OMIM: 617506 GeneReviews: Not available
    		Compare labs

    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
    Envelope surface glycoprotein gp120 env Genes, including GABRP, ADF, HINT, PRSS2, SDCBP, PTK9, PPP2R5B, ITGA3, PRKCBP1, HMOX2, HAT1, PPP1cB, and ICAM-1, are upregulated after treatment of human astrocytes with HIV-1 gp120 PubMed
    Tat tat Protein phosphatase 1, catalytic subunit, beta isoform (PPP1CB) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed
    tat Small molecular compounds prevent the interaction of HIV-1 Tat with protein phosphatase-1 (PP1) and the shuttling of PP1 to the nucleus PubMed
    tat PP1 interacts with Tat in part through the binding of Val(36) and Phe(38) of Tat to PP1, and Tat is involved in the nuclear and subnuclear targeting of PP1 PubMed
    tat Protein phosphatase-2A (PP2A) and protein phosphatase-1 (PP1) regulate HIV-1 Tat-activated transcription through dephosphorylation of CDK9 PubMed
    tat Stimulation of HIV-1 Tat transactivation by protein phosphatase 1 (PP1) is inhibited by nuclear inhibitor of PP1 (NIPP1), indicating Tat function is regulated by PP1/NIPP1 PubMed
    tat Protein phosphatase 1 (PP1) associates with HIV-1 Tat and stimulates Tat-mediated transactivation of the HIV-1 LTR promoter 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

    Potential readthrough

    Included gene: SPDYA

    Homology

    Clone Names

    • MGC3672

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables myosin-light-chain-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in MAPK cascade TAS
    Traceable Author Statement
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in circadian regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in entrainment of circadian clock by photoperiod ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein dephosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of circadian rhythm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of PTW/PP1 phosphatase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with chromosome, telomeric region 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 extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein phosphatase PP1-beta catalytic subunit
    Names
    epididymis secretory sperm binding protein Li 80p
    myosin phosphatase
    protein phosphatase 1, catalytic subunit, beta isozyme
    protein phosphatase 1-beta
    protein phosphatase 1-delta
    NP_002700.1
    NP_996759.1

    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.

    Genomic

    1. NG_052878.1 RefSeqGene

      Range
      5083..56193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002709.3 → NP_002700.1  serine/threonine-protein phosphatase PP1-beta catalytic subunit isoform 1

      See identical proteins and their annotated locations for NP_002700.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. It encodes the longer isoform (1).
      Source sequence(s)
      BC002697, BE047402, BM835970, BX477003, BX647295, CD722576, X80910
      Consensus CDS
      CCDS33169.1
      UniProtKB/Swiss-Prot
      B2R5V4, D6W565, P37140, P62140, Q5U087, Q6FG45
      UniProtKB/TrEMBL
      A0A8V8TQ71, V9HW04
      Related
      ENSP00000378769.2, ENST00000395366.3
      Conserved Domains (1) summary
      cd07414
      Location:7 → 297
      MPP_PP1_PPKL; PP1, PPKL (PP1 and kelch-like) enzymes, and related proteins, metallophosphatase domain

    2. NM_206876.2 → NP_996759.1  serine/threonine-protein phosphatase PP1-beta catalytic subunit isoform 1

      See identical proteins and their annotated locations for NP_996759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants encode the same isoform (1).
      Source sequence(s)
      AC097724, AF092905, BE047402, BI551898, BM835970, BQ933435, CB111140, CD656807, CD722576, X80910
      Consensus CDS
      CCDS33169.1
      UniProtKB/Swiss-Prot
      B2R5V4, D6W565, P37140, P62140, Q5U087, Q6FG45
      UniProtKB/TrEMBL
      A0A8V8TQ71, V9HW04
      Related
      ENSP00000414918.2, ENST00000441461.6
      Conserved Domains (1) summary
      cd07414
      Location:7 → 297
      MPP_PP1_PPKL; PP1, PPKL (PP1 and kelch-like) enzymes, and related proteins, metallophosphatase domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      28751604..28802940
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      28795220..28846552
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_206877.1: Suppressed sequence

      Description
      NM_206877.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P62140.3 GenPept UniProtKB/Swiss-Prot:P62140

    Gene LinkOut

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

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