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

Gene ID: 151242, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (181954480..182131385)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (182444266..182620440)
105.20220307 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: 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. 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)

Genotypes

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 cycle IEA
Inferred from Electronic Annotation
more info
  
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_2023_10

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

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