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    PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 [ Homo sapiens (human) ]

    Gene ID: 5366, updated on 17-Jun-2019

    Summary

    Official Symbol
    PMAIP1provided by HGNC
    Official Full Name
    phorbol-12-myristate-13-acetate-induced protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9108
    See related
    Ensembl:ENSG00000141682 MIM:604959
    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
    APR; NOXA
    Expression
    Biased expression in bone marrow (RPKM 33.1), placenta (RPKM 8.9) and 12 other tissues See more
    Orthologs

    Genomic context

    See PMAIP1 in Genome Data Viewer
    Location:
    18q21.32
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (59899996..59904305)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (57567153..57571538)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene glutamate dehydrogenase 1 pseudogene 4 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene Neighboring gene uncharacterized LOC105372151 Neighboring gene pleckstrin homology domain containing B2 pseudogene Neighboring gene nuclear factor, erythroid 2 like 3 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    NHGRI GWA Catalog
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates NOXA expression in Tat-infected Jurkat T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Activation of BH3-only proteins, organism-specific biosystem (from REACTOME)
      Activation of BH3-only proteins, organism-specific biosystemThe BH3-only members act as sentinels that selectively trigger apoptosis in response to developmental cues or stress-signals like DNA damages. Widely expressed mammalian BH3-only proteins are thought...
    • Activation of NOXA and translocation to mitochondria, organism-specific biosystem (from REACTOME)
      Activation of NOXA and translocation to mitochondria, organism-specific biosystemNOXA is transactivated in a p53-dependent manner and by E2F1. Activated NOXA is translocated to mitochondria.
    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, organism-specific biosystem (from WikiPathways)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptosis - multiple species, organism-specific biosystem (from KEGG)
      Apoptosis - multiple species, organism-specific biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
    • Apoptosis - multiple species, conserved biosystem (from KEGG)
      Apoptosis - multiple species, conserved biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
    • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
      Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
    • BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members, organism-specific biosystem (from REACTOME)
      BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members, organism-specific biosystem
      BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
    • DNA Damage Response, organism-specific biosystem (from WikiPathways)
      DNA Damage Response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
    • DNA Damage Response (only ATM dependent), organism-specific biosystem (from WikiPathways)
      DNA Damage Response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Intrinsic Pathway for Apoptosis, organism-specific biosystem (from REACTOME)
      Intrinsic Pathway for Apoptosis, organism-specific biosystemThe intrinsic (Bcl-2 inhibitable or mitochondrial) pathway of apoptosis functions in response to various types of intracellular stress including growth factor withdrawal, DNA damage, unfolding stress...
    • Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystem (from WikiPathways)
      Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystemPhotodynamic therapy may induce a hypoxic survival response mediated by HIF-1.
    • Platinum drug resistance, organism-specific biosystem (from KEGG)
      Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Platinum drug resistance, conserved biosystem (from KEGG)
      Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Programmed Cell Death, organism-specific biosystem (from REACTOME)
      Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
    • TP53 Network, organism-specific biosystem (from WikiPathways)
      TP53 Network, organism-specific biosystemP53 is not a lonely genome guardian, it operates with the assistance of p73 and p63 within a complex network including distinct but complementary pathways. This protein family presents a high le...
    • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
    • TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, organism-specific biosystemApoptotic transcriptional targets of TP53 include genes that regulate the permeability of the mitochondrial membrane and/or cytochrome C release, such as BAX, BID, PMAIP1 (NOXA), BBC3 (PUMA) and prob...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    • Validated targets of C-MYC transcriptional activation, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional activation, organism-specific biosystem
      Validated targets of C-MYC transcriptional activation
    • Viral carcinogenesis, organism-specific biosystem (from KEGG)
      Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • Viral carcinogenesis, conserved biosystem (from KEGG)
      Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • miRNA Regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
      miRNA Regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...
    • p53 signaling pathway, organism-specific biosystem (from KEGG)
      p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53 signaling pathway, conserved biosystem (from KEGG)
      p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to glucose starvation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic apoptotic signaling pathway by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of mitochondrial membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glucose metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of intrinsic apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
     
    positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
     
    positive regulation of protein oligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of release of cytochrome c from mitochondria IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteasomal protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
     
    reactive oxygen species metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    regulation of mitochondrial membrane permeability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    release of cytochrome c from mitochondria IEA
    Inferred from Electronic Annotation
    more info
     
    response to dsRNA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    phorbol-12-myristate-13-acetate-induced protein 1
    Names
    PMA-induced protein 1
    adult T cell leukemia-derived PMA-responsive
    immediate-early-response protein APR
    protein Noxa

    NCBI Reference Sequences (RefSeq)

    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_021127.3NP_066950.1  phorbol-12-myristate-13-acetate-induced protein 1

      See identical proteins and their annotated locations for NP_066950.1

      Status: VALIDATED

      Source sequence(s)
      BC013120, BC032663, BF667112, BM999509
      Consensus CDS
      CCDS11975.1
      UniProtKB/Swiss-Prot
      Q13794
      UniProtKB/TrEMBL
      A0A0S2Z490
      Related
      ENSP00000326119.6, ENST00000316660.6
      Conserved Domains (1) summary
      pfam15150
      Location:154
      PMAIP1; Phorbol-12-myristate-13-acetate-induced

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      59899996..59904305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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