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PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A [ Homo sapiens (human) ]

Gene ID: 5502, updated on 5-Mar-2024

Summary

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Official Symbol
PPP1R1Aprovided by HGNC
Official Full Name
protein phosphatase 1 regulatory inhibitor subunit 1Aprovided by HGNC
Primary source
HGNC:HGNC:9286
See related
Ensembl:ENSG00000135447 MIM:613246; AllianceGenome:HGNC:9286
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
I1; IPP1
Summary
Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in fat (RPKM 174.0), kidney (RPKM 33.7) and 3 other tissues See more
Orthologs
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Genomic context

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Location:
12q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (54579246..54588659, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (54545797..54555209, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54973030..54982443, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6445 Neighboring gene NCK associated protein 1 like Neighboring gene NANOG hESC enhancer GRCh37_chr12:54940243-54940787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54943935-54944563 Neighboring gene phosphodiesterase 1B Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:54957859-54958550 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:54958551-54959240 Neighboring gene Sharpr-MPRA regulatory region 444 Neighboring gene glycosylation dependent cell adhesion molecule 1 (pseudogene) Neighboring gene lacritin

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. Human G109E-inhibitor-1 impairs cardiac function and promotes arrhythmias. Haghighi K, et al. J Mol Cell Cardiol, 2015 Dec. PMID 26455482, Free PMC Article
  2. The human G147D-protein phosphatase 1 inhibitor-1 polymorphism is not associated with altered clinical characteristics in heart failure. Chen G, et al. Cardiology, 2009. PMID 18698139, Free PMC Article
  3. Multiple structural elements define the specificity of recombinant human inhibitor-1 as a protein phosphatase-1 inhibitor. Endo S, et al. Biochemistry, 1996 Apr 23. PMID 8611507
  4. Exploring prognostic value and regulation network of PPP1R1A in hepatocellular carcinoma. Wu X, et al. Hum Cell, 2022 Nov. PMID 36018458
  5. A human polymorphism of protein phosphatase-1 inhibitor-1 is associated with attenuated contractile response of cardiomyocytes to beta-adrenergic stimulation. Chen G, et al. FASEB J, 2008 Jun. PMID 18192322, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exploring prognostic value and regulation network of PPP1R1A in hepatocellular carcinoma.
    Title: Exploring prognostic value and regulation network of PPP1R1A in hepatocellular carcinoma.
  2. The MafA-target gene PPP1R1A regulates GLP1R-mediated amplification of glucose-stimulated insulin secretion in beta-cells.
    Title: The MafA-target gene PPP1R1A regulates GLP1R-mediated amplification of glucose-stimulated insulin secretion in β-cells.
  3. HOXC-AS3 is aberrantly overexpressed in breast cancers especially the HER2+ type. High expression of HOXC-AS3 has a relationship with poor clinical outcomes of breast cancer. HOXC-AS3 regulates cell invasion and migration both in vitro and in vivo. Results demonstrated that miR-3922-5p was a direct target of HOXC-AS3, and PPP1R1A was a target of miR-3922-5p in breast cancer.
    Title: A Novel lncRNA HOXC-AS3 Acts as a miR-3922-5p Sponge to Promote Breast Cancer Metastasis.
  4. High PPP1R1A expression is associated with ewing sarcoma tumorigenesis and metastasis.
    Title: Protein phosphatase 1 regulatory subunit 1A in ewing sarcoma tumorigenesis and metastasis.
  5. These findings suggest that the human G109E inhibitor-1 variant impairs sarcoplasmic reticulum Ca-cycling and promotes arrhythmogenesis under stress conditions.
    Title: Human G109E-inhibitor-1 impairs cardiac function and promotes arrhythmias.
  6. I-1 and sarco/endoplasmic reticulum Ca2+ -ATPase synergistically induce the vascular smooth muscle cell contractile phenotype.
    Title: Synergistic role of protein phosphatase inhibitor 1 and sarco/endoplasmic reticulum Ca2+ -ATPase in the acquisition of the contractile phenotype of arterial smooth muscle cells.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  8. the human inhibitor-1 G147D polymorphism, found almost exclusively in blacks, may act as a modifier rather than risk factor in heart failure development
    Title: The human G147D-protein phosphatase 1 inhibitor-1 polymorphism is not associated with altered clinical characteristics in heart failure.
  9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  10. G147D PPI-1 can attenuate responses of cardiomyocytes to beta-adrenergic agonists by decreasing PLN phosphorylation and therefore may contribute to deteriorated function in heart failure.
    Title: A human polymorphism of protein phosphatase-1 inhibitor-1 is associated with attenuated contractile response of cardiomyocytes to beta-adrenergic stimulation.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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 serine/threonine phosphatase inhibitor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in glycogen metabolic process 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 1A
Names
I-1
IPP-1
inhibitor-1
protein phosphatase inhibitor-1
NP_006732.3
XP_005269052.1
XP_006719534.1
XP_054228356.1
XP_054228357.1

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.

mRNA and Protein(s)

  1. NM_006741.4 → NP_006732.3  protein phosphatase 1 regulatory subunit 1A

    See identical proteins and their annotated locations for NP_006732.3

    Status: VALIDATED

    Source sequence(s)
    AC079310, BM876308, BP211831, U48707
    Consensus CDS
    CCDS44912.1
    UniProtKB/Swiss-Prot
    Q13522, Q6IB01, Q8TBJ2, Q8WWV2
    Related
    ENSP00000257905.8, ENST00000257905.13
    Conserved Domains (1) summary
    pfam05395
    Location:5 → 142
    DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    54579246..54588659 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719471.5 → XP_006719534.1  protein phosphatase 1 regulatory subunit 1A isoform X1

    Conserved Domains (1) summary
    pfam05395
    Location:5 → 83
    DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

  2. XM_005268995.5 → XP_005269052.1  protein phosphatase 1 regulatory subunit 1A isoform X2

    Conserved Domains (1) summary
    pfam05395
    Location:5 → 83
    DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    54545797..54555209 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372381.1 → XP_054228356.1  protein phosphatase 1 regulatory subunit 1A isoform X1

  2. XM_054372382.1 → XP_054228357.1  protein phosphatase 1 regulatory subunit 1A isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13522.3 GenPept UniProtKB/Swiss-Prot:Q13522

Gene LinkOut

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