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

Gene ID: 5366, updated on 23-Mar-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
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Genomic context

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Location:
18q21.32
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (59899996..59904305)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (60102671..60106980)
105.20220307 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
  • 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. The BH3-only protein NOXA serves as an independent predictor of breast cancer patient survival and defines susceptibility to microtubule targeting agents. Karbon G, et al. Cell Death Dis, 2021 Dec 13. PMID 34903710, Free PMC Article
  2. The essentials of developmental apoptosis. Voss AK, et al. F1000Res, 2020. PMID 32148779, Free PMC Article
  3. 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
  4. 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
  5. NOXA genetic amplification or pharmacologic induction primes lymphoma cells to BCL2 inhibitor-induced cell death. Liu Y, et al. Proc Natl Acad Sci U S A, 2018 Nov 20. PMID 30404918, Free PMC Article

See all (157) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Noxa upregulation and 5-gene apoptotic biomarker panel in colorectal cancer.
    Title: Noxa upregulation and 5-gene apoptotic biomarker panel in colorectal cancer.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. MARCH5 mediates NOXA-dependent MCL1 degradation driven by kinase inhibitors and integrated stress response activation.
    Title: MARCH5 mediates NOXA-dependent MCL1 degradation driven by kinase inhibitors and integrated stress response activation.
Submit: New GeneRIF Correction See all GeneRIFs (110)

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
  
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
  
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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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_2023_10

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.

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