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

    Gene ID: 5502, updated on 2-Nov-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, Nov 2024]
    Expression
    Biased expression in fat (RPKM 174.0), kidney (RPKM 33.7) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1R1A in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (54579246..54588659, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (54545797..54555209, complement)
    RS_2024_09 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 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. Unraveling the significance of PPP1R1A gene in pancreatic β-cell function: A study in INS-1 cells and human pancreatic islets. Taneera J, et al. Life Sci, 2024 May 15. PMID 38574885
    2. 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
    3. 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
    4. 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
    5. Exploring prognostic value and regulation network of PPP1R1A in hepatocellular carcinoma. Wu X, et al. Hum Cell, 2022 Nov. PMID 36018458

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unraveling the significance of PPP1R1A gene in pancreatic beta-cell function: A study in INS-1 cells and human pancreatic islets.
      Title: Unraveling the significance of PPP1R1A gene in pancreatic β-cell function: A study in INS-1 cells and human pancreatic islets.
    2. Exploring prognostic value and regulation network of PPP1R1A in hepatocellular carcinoma.
      Title: Exploring prognostic value and regulation network of PPP1R1A in hepatocellular carcinoma.
    3. 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.
    4. 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.
    5. High PPP1R1A expression is associated with ewing sarcoma tumorigenesis and metastasis.
      Title: Protein phosphatase 1 regulatory subunit 1A in ewing sarcoma tumorigenesis and metastasis.
    6. 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.
    7. 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.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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_2024_08

    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

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

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