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

    Gene ID: 5366, updated on 28-Oct-2024

    Summary

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    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; AllianceGenome:HGNC:9108
    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
    Summary
    This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family members, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug 2020]
    Expression
    Biased expression in bone marrow (RPKM 33.1), placenta (RPKM 8.9) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PMAIP1 in Genome Data Viewer
    Location:
    18q21.32
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (59899996..59904305)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (60102671..60106980)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (57567228..57571537)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13416 Neighboring gene glutamate dehydrogenase 1 pseudogene 4 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 12 Neighboring gene Sharpr-MPRA regulatory region 9182 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:57514626-57515543 Neighboring gene Sharpr-MPRA regulatory region 560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13421 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:57566317-57567068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13423 Neighboring gene uncharacterized LOC105372151 Neighboring gene PLEKHB2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13426 Neighboring gene nuclear factor, erythroid 2 like 3 pseudogene 1

    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. ROS-mediated upregulation of Noxa overcomes chemoresistance in chronic lymphocytic leukemia. Tonino SH, et al. Oncogene, 2011 Feb 10. PMID 20935673, Free PMC Article
    2. The essentials of developmental apoptosis. Voss AK, et al. F1000Res, 2020. PMID 32148779, Free PMC Article
    3. Alterations in the Noxa/Mcl-1 axis determine sensitivity of small cell lung cancer to the BH3 mimetic ABT-737. Hauck P, et al. Mol Cancer Ther, 2009 Apr. PMID 19372561
    4. AMPK activation induced by promethazine increases NOXA expression and Beclin-1 phosphorylation and drives autophagy-associated apoptosis in chronic myeloid leukemia. Medeiros HCD, et al. Chem Biol Interact, 2020 Jan 5. PMID 31682805
    5. Cannabidiol-induced apoptosis is mediated by activation of Noxa in human colorectal cancer cells. Jeong S, et al. Cancer Lett, 2019 Apr 10. PMID 30660647

    See all (165) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The mechanism of mitochondrial metabolic gene PMAIP1 involved in Alzheimer's disease process based on bioinformatics analysis and experimental validation.
      Title: The mechanism of mitochondrial metabolic gene PMAIP1 involved in Alzheimer's disease process based on bioinformatics analysis and experimental validation.
    2. Noxa inhibits oncogenesis through ZNF519 in gastric cancer and is suppressed by hsa-miR-200b-3p.
      Title: Noxa inhibits oncogenesis through ZNF519 in gastric cancer and is suppressed by hsa-miR-200b-3p.
    3. NOXA expression is downregulated in human breast cancer undergoing incomplete pathological response and senescence after neoadjuvant chemotherapy.
      Title: NOXA expression is downregulated in human breast cancer undergoing incomplete pathological response and senescence after neoadjuvant chemotherapy.
    4. The BH3-only protein NOXA serves as an independent predictor of breast cancer patient survival and defines susceptibility to microtubule targeting agents.
      Title: The BH3-only protein NOXA serves as an independent predictor of breast cancer patient survival and defines susceptibility to microtubule targeting agents.
    5. BH3 mimetics selectively eliminate chemotherapy-induced senescent cells and improve response in TP53 wild-type breast cancer.
      Title: BH3 mimetics selectively eliminate chemotherapy-induced senescent cells and improve response in TP53 wild-type breast cancer.
    6. Noxa upregulation and 5-gene apoptotic biomarker panel in colorectal cancer.
      Title: Noxa upregulation and 5-gene apoptotic biomarker panel in colorectal cancer.
    7. Cullin-5 neddylation-mediated NOXA degradation is enhanced by PRDX1 oligomers in colorectal cancer.
      Title: Cullin-5 neddylation-mediated NOXA degradation is enhanced by PRDX1 oligomers in colorectal cancer.
    8. TAS4464, a NEDD8-activating enzyme inhibitor, activates both intrinsic and extrinsic apoptotic pathways via c-Myc-mediated regulation in acute myeloid leukemia.
      Title: TAS4464, a NEDD8-activating enzyme inhibitor, activates both intrinsic and extrinsic apoptotic pathways via c-Myc-mediated regulation in acute myeloid leukemia.
    9. NOXA upregulation by the prohibitin-binding compound fluorizoline is transcriptionally regulated by integrated stress response-induced ATF3 and ATF4.
      Title: NOXA upregulation by the prohibitin-binding compound fluorizoline is transcriptionally regulated by integrated stress response-induced ATF3 and ATF4.
    10. Structural modification of NADPH oxidase activator (Noxa 1) by oxidative stress: An experimental and computational study.
      Title: Structural modification of NADPH oxidase activator (Noxa 1) by oxidative stress: An experimental and computational study.
    Submit: New GeneRIF Correction See all GeneRIFs (111)

    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

    EBI GWAS Catalog

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

    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

    HIV-1 interactions

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    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 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 
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in T cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to glucose starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of mitochondrial membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of glucose metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of release of cytochrome c from mitochondria IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteasomal protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in reactive oxygen species metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitochondrial membrane permeability IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in release of cytochrome c from mitochondria IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to dsRNA IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Bcl-2 family protein complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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    NEW Try the new Transcript table

    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_001382615.1 → NP_001369544.1  phorbol-12-myristate-13-acetate-induced protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC107990
      Conserved Domains (1) summary
      pfam15150
      Location:1 → 60
      PMAIP1; Phorbol-12-myristate-13-acetate-induced

    2. NM_001382616.1 → NP_001369545.1  phorbol-12-myristate-13-acetate-induced protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC107990
      Consensus CDS
      CCDS92468.1
      UniProtKB/TrEMBL
      A0A0S2Z4V2
      Related
      ENSP00000269518.9, ENST00000269518.9
      Conserved Domains (1) summary
      pfam15150
      Location:1 → 21
      PMAIP1; Phorbol-12-myristate-13-acetate-induced

    3. NM_001382617.1 → NP_001369546.1  phorbol-12-myristate-13-acetate-induced protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC107990
      Conserved Domains (1) summary
      pfam15150
      Location:1 → 19
      PMAIP1; Phorbol-12-myristate-13-acetate-induced

    4. NM_001382618.1 → NP_001369547.1  phorbol-12-myristate-13-acetate-induced protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC107990
      Conserved Domains (1) summary
      pfam15150
      Location:1 → 21
      PMAIP1; Phorbol-12-myristate-13-acetate-induced

    5. NM_001382623.1 → NP_001369552.1  phorbol-12-myristate-13-acetate-induced protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC107990
      Conserved Domains (1) summary
      pfam15150
      Location:1 → 21
      PMAIP1; Phorbol-12-myristate-13-acetate-induced

    6. NM_021127.3 → NP_066950.1  phorbol-12-myristate-13-acetate-induced protein 1 isoform 6

      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
      B2R4T7, Q13794, Q8N589
      UniProtKB/TrEMBL
      A0A0S2Z490
      Related
      ENSP00000326119.7, ENST00000316660.7
      Conserved Domains (1) summary
      pfam15150
      Location:1 → 54
      PMAIP1; Phorbol-12-myristate-13-acetate-induced

    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_000018.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      60102671..60106980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13794.1 GenPept UniProtKB/Swiss-Prot:Q13794

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
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