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    PPP1R1C protein phosphatase 1 regulatory inhibitor subunit 1C [ Homo sapiens (human) ]

    Gene ID: 151242, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PPP1R1Cprovided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory inhibitor subunit 1Cprovided by HGNC
    Primary source
    HGNC:HGNC:14940
    See related
    Ensembl:ENSG00000150722 MIM:613240; AllianceGenome:HGNC:14940
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IPP5
    Summary
    Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010]
    Expression
    Biased expression in heart (RPKM 4.6), testis (RPKM 4.4) and 5 other tissues See more
    Orthologs
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    Genomic context

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    See PPP1R1C in Genome Data Viewer
    Location:
    2q31.3-q32.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (181954480..182131385)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (182444266..182620440)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (182819207..182996112)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6atac small nuclear 19, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14896 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182655450-182656649 Neighboring gene Sharpr-MPRA regulatory region 14191 Neighboring gene MPRA-validated peak3961 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182740630-182741829 Neighboring gene Sharpr-MPRA regulatory region 15031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12160 Neighboring gene MPRA-validated peak3963 silencer Neighboring gene MPRA-validated peak3962 silencer Neighboring gene MPRA-validated peak3964 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:182819339-182820538 Neighboring gene ITPR interacting domain containing 2 Neighboring gene keratin 18 pseudogene 29 Neighboring gene uncharacterized LOC102724288 Neighboring gene RNA, 5S ribosomal pseudogene 113 Neighboring gene NANOG hESC enhancer GRCh37_chr2:182975215-182975716 Neighboring gene phosphodiesterase 1A Neighboring gene uncharacterized LOC124907915 Neighboring gene RNA, 7SL, cytoplasmic 267, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Sensitization of cervical carcinoma cells to paclitaxel by an IPP5 active mutant. Zeng QY, et al. Asian Pac J Cancer Prev, 2014. PMID 25339026
    2. 8-60hIPP5(m)-induced G2/M cell cycle arrest involves activation of ATM/p53/p21(cip1/waf1) pathways and delayed cyclin B1 nuclear translocation. Zeng QY, et al. Asian Pac J Cancer Prev, 2014. PMID 24935604
    3. IPP5, a novel inhibitor of protein phosphatase 1, suppresses tumor growth and progression of cervical carcinoma cells by inducing G2/M arrest. Zeng Q, et al. Cancer Genet, 2012 Sep. PMID 22939397
    4. Effect of IPP5, a novel inhibitor of PP1, on apoptosis and the underlying mechanisms involved. Zeng Q, et al. Biotechnol Appl Biochem, 2009 Dec 7. PMID 19874272
    5. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. Dick DM, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Sep. PMID 20468071, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The data demonstrate a novel role for 8-60hIPP5(m) in the control of G2/M cell cycle progression, a process that involves the activation of ATM/p53/p21cip1/waf1/Cdc2/ cyclin B1 pathways.
      Title: 8-60hIPP5(m)-induced G2/M cell cycle arrest involves activation of ATM/p53/p21(cip1/waf1) pathways and delayed cyclin B1 nuclear translocation.
    2. IPP5 mutations are associated with response to paclitaxel in cervical cancer.
      Title: Sensitization of cervical carcinoma cells to paclitaxel by an IPP5 active mutant.
    3. The effect of IPP5 on tumor growth and the underlying molecular mechanisms were investigated by overexpression of IPP5 in HeLa cells, a human cervical carcinoma cell line.
      Title: IPP5, a novel inhibitor of protein phosphatase 1, suppresses tumor growth and progression of cervical carcinoma cells by inducing G2/M arrest.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Overexpression of active mutant IPP5 inhibited anchorage-dependent growth and induced apoptosis in HeLa cells, which may be attributed to the up-regulation of p21, p53 and Bcl-2-antagonist/killer, and down-regulation of Bcl-2 and Bcl-X(L).
      Title: Effect of IPP5, a novel inhibitor of PP1, on apoptosis and the underlying mechanisms involved.
    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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein phosphatase 1 regulatory subunit 1C
    Names
    PP1 inhibitor protein 5
    inhibitor-5 of protein phosphatase 1
    protein phosphatase 1 regulatory subunit 1A

    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_001080545.3 → NP_001074014.1  protein phosphatase 1 regulatory subunit 1C isoform 2

      See identical proteins and their annotated locations for NP_001074014.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and differs in the 3' UTR compared to variant 1. The resulting protein is shorter compared to isoform 1. Variants 2 and 3 encode the same protein (isoform 2).
      Source sequence(s)
      AC009962, AC011291, AC064837
      Consensus CDS
      CCDS46468.1
      UniProtKB/Swiss-Prot
      Q5HYJ5, Q8TD54, Q8WVI7
      Related
      ENSP00000507052.1, ENST00000682840.1
      Conserved Domains (1) summary
      pfam05395
      Location:2 → 85
      DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

    2. NM_001261424.2 → NP_001248353.1  protein phosphatase 1 regulatory subunit 1C isoform 1

      See identical proteins and their annotated locations for NP_001248353.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
      Source sequence(s)
      AC009962, AC011291, AF494535
      Consensus CDS
      CCDS58740.1
      UniProtKB/Swiss-Prot
      Q8WVI7
      Related
      ENSP00000280295.3, ENST00000280295.7
      Conserved Domains (1) summary
      pfam05395
      Location:2 → 92
      DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

    3. NM_001261425.2 → NP_001248354.1  protein phosphatase 1 regulatory subunit 1C isoform 2

      See identical proteins and their annotated locations for NP_001248354.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein is shorter compared to isoform 1. Variants 2 and 3 encode the same protein (isoform 2).
      Source sequence(s)
      AC009962, AC011291, AK129898, BX647581
      Consensus CDS
      CCDS46468.1
      UniProtKB/Swiss-Prot
      Q5HYJ5, Q8TD54, Q8WVI7
      Related
      ENSP00000386359.3, ENST00000409137.7
      Conserved Domains (1) summary
      pfam05395
      Location:2 → 85
      DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

    RNA

    1. NR_048566.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA321774, AC009962, AC011291, BC017943

    2. NR_048567.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains alternate 5' and 3' exons, and lacks two alternate exons compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF.
      Source sequence(s)
      AC011291, AK311571, BI792375

    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
      181954480..182131385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003451.1 → XP_016858940.1  protein phosphatase 1 regulatory subunit 1C isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      182444266..182620440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340757.1 → XP_054196732.1  protein phosphatase 1 regulatory subunit 1C isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVI7.1 GenPept UniProtKB/Swiss-Prot:Q8WVI7

    Gene LinkOut

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

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