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Aliases for PMAIP1 Gene

Aliases for PMAIP1 Gene

  • Phorbol-12-Myristate-13-Acetate-Induced Protein 1 2 3 5
  • Immediate-Early-Response Protein APR 3 4
  • PMA-Induced Protein 1 3 4
  • Protein Noxa 3 4
  • NOXA 3 4
  • Adult T Cell Leukemia-Derived PMA-Responsive 3
  • APR 3

External Ids for PMAIP1 Gene

Previous GeneCards Identifiers for PMAIP1 Gene

  • GC18P057399
  • GC18P057540
  • GC18P055716
  • GC18P055718
  • GC18P054277
  • GC18P057568

Summaries for PMAIP1 Gene

GeneCards Summary for PMAIP1 Gene

PMAIP1 (Phorbol-12-Myristate-13-Acetate-Induced Protein 1) is a Protein Coding gene. Diseases associated with PMAIP1 include adult t-cell leukemia and t-cell leukemia. Among its related pathways are Apoptosis Modulation and Signaling and Apoptosis - multiple species.

UniProtKB/Swiss-Prot for PMAIP1 Gene

  • Promotes activation of caspases and apoptosis. Promotes mitochondrial membrane changes and efflux of apoptogenic proteins from the mitochondria. Contributes to p53/TP53-dependent apoptosis after radiation exposure. Promotes proteasomal degradation of MCL1. Competes with BAK1 for binding to MCL1 and can displace BAK1 from its binding site on MCL1 (By similarity). Competes with BIM/BCL2L11 for binding to MCL1 and can displace BIM/BCL2L11 from its binding site on MCL1.

Gene Wiki entry for PMAIP1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMAIP1 Gene

Genomics for PMAIP1 Gene

Regulatory Elements for PMAIP1 Gene

Enhancers for PMAIP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PMAIP1 on UCSC Golden Path with GeneCards custom track

Promoters for PMAIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PMAIP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PMAIP1 Gene

Chromosome:
18
Start:
59,899,948 bp from pter
End:
59,904,306 bp from pter
Size:
4,359 bases
Orientation:
Plus strand

Genomic View for PMAIP1 Gene

Genes around PMAIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMAIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMAIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMAIP1 Gene

Proteins for PMAIP1 Gene

  • Protein details for PMAIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13794-APR_HUMAN
    Recommended name:
    Phorbol-12-myristate-13-acetate-induced protein 1
    Protein Accession:
    Q13794
    Secondary Accessions:
    • B2R4T7
    • Q8N589

    Protein attributes for PMAIP1 Gene

    Size:
    54 amino acids
    Molecular mass:
    6030 Da
    Quaternary structure:
    • Interacts with MCL1, BCL2A1 and BAX.

    Three dimensional structures from OCA and Proteopedia for PMAIP1 Gene

    Alternative splice isoforms for PMAIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMAIP1 Gene

Proteomics data for PMAIP1 Gene at MOPED

Post-translational modifications for PMAIP1 Gene

  • Ubiquitination at Lys 35, Lys 41, and Lys 48
  • Modification sites at PhosphoSitePlus

Other Protein References for PMAIP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PMAIP1 (NOXA)

No data available for DME Specific Peptides for PMAIP1 Gene

Domains & Families for PMAIP1 Gene

Protein Domains for PMAIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PMAIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13794

UniProtKB/Swiss-Prot:

APR_HUMAN :
  • The BH3 motif is essential for pro-apoptotic activity.
  • Belongs to the PMAIP1 family.
Domain:
  • The BH3 motif is essential for pro-apoptotic activity.
Family:
  • Belongs to the PMAIP1 family.
genes like me logo Genes that share domains with PMAIP1: view

No data available for Gene Families for PMAIP1 Gene

Function for PMAIP1 Gene

Molecular function for PMAIP1 Gene

UniProtKB/Swiss-Prot Function:
Promotes activation of caspases and apoptosis. Promotes mitochondrial membrane changes and efflux of apoptogenic proteins from the mitochondria. Contributes to p53/TP53-dependent apoptosis after radiation exposure. Promotes proteasomal degradation of MCL1. Competes with BAK1 for binding to MCL1 and can displace BAK1 from its binding site on MCL1 (By similarity). Competes with BIM/BCL2L11 for binding to MCL1 and can displace BIM/BCL2L11 from its binding site on MCL1.
UniProtKB/Swiss-Prot Induction:
Up-regulated by p53/TP53, phorbol esters, double-stranded RNA, IFNB1/IFN-beta and viruses.
genes like me logo Genes that share phenotypes with PMAIP1: view

Animal Model Products

CRISPR Products

miRNA for PMAIP1 Gene

miRTarBase miRNAs that target PMAIP1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PMAIP1 Gene

Localization for PMAIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMAIP1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PMAIP1 Gene COMPARTMENTS Subcellular localization image for PMAIP1 gene
Compartment Confidence
cytosol 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 2
extracellular 2
plasma membrane 2
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for PMAIP1 Gene

Pathways & Interactions for PMAIP1 Gene

genes like me logo Genes that share pathways with PMAIP1: view

SIGNOR curated interactions for PMAIP1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PMAIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS --
GO:0006915 apoptotic process IMP,TAS 17599062
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IEA --
GO:0009411 response to UV IEA --
genes like me logo Genes that share ontologies with PMAIP1: view

Drugs & Compounds for PMAIP1 Gene

No Compound Related Data Available

Transcripts for PMAIP1 Gene

mRNA/cDNA for PMAIP1 Gene

Unigene Clusters for PMAIP1 Gene

Phorbol-12-myristate-13-acetate-induced protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PMAIP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b
SP1: -
SP2:
SP3: - -

Relevant External Links for PMAIP1 Gene

GeneLoc Exon Structure for
PMAIP1
ECgene alternative splicing isoforms for
PMAIP1

Expression for PMAIP1 Gene

mRNA expression in normal human tissues for PMAIP1 Gene

SOURCE GeneReport for Unigene cluster for PMAIP1 Gene Hs.96

mRNA Expression by UniProt/SwissProt for PMAIP1 Gene

Q13794-APR_HUMAN
Tissue specificity: Highly expressed in adult T-cell leukemia cell line.
genes like me logo Genes that share expression patterns with PMAIP1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for PMAIP1 Gene

Orthologs for PMAIP1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PMAIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PMAIP1 35
  • 100 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia PMAIP1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pmaip1 36
  • 38 (a)
OneToOne
Species with no ortholog for PMAIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PMAIP1 Gene

ENSEMBL:
Gene Tree for PMAIP1 (if available)
TreeFam:
Gene Tree for PMAIP1 (if available)

Paralogs for PMAIP1 Gene

No data available for Paralogs for PMAIP1 Gene

Variants for PMAIP1 Gene

Sequence variations from dbSNP and Humsavar for PMAIP1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs7232296 -- 59,904,295(+) AAAAG(C/T)TTTCA utr-variant-3-prime
rs7234789 -- 59,900,409(+) AAGTT(A/C)TTCGG intron-variant
rs1893516 -- 59,900,880(+) TAAAC(A/G)GAGAA intron-variant
rs1942918 -- 59,903,110(+) TGACC(C/T)GTGAT utr-variant-3-prime
rs7240119 -- 59,901,369(+) TCGGA(C/T)GCTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PMAIP1 Gene

Variant ID Type Subtype PubMed ID
nsv523228 CNV Loss 19592680

Variation tolerance for PMAIP1 Gene

Residual Variation Intolerance Score: 63.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.31; 62.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PMAIP1 Gene

HapMap Linkage Disequilibrium report
PMAIP1
Human Gene Mutation Database (HGMD)
PMAIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMAIP1 Gene

Disorders for PMAIP1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PMAIP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
adult t-cell leukemia
  • adult t-cell leukemia/lymphoma
t-cell leukemia
  • leukemia t-cell
superior mesenteric artery syndrome
  • arteriomesenteric duodenal compression syndrome
alk-negative anaplastic large cell lymphoma
  • alk- alcl
mantle cell lymphoma
  • lymphocytic choriomeningitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PMAIP1

Genetic Association Database (GAD)
PMAIP1
Human Genome Epidemiology (HuGE) Navigator
PMAIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PMAIP1
genes like me logo Genes that share disorders with PMAIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PMAIP1 Gene

Publications for PMAIP1 Gene

  1. Molecular cloning and characterization of a cDNA for a novel phorbol- 12-myristate-13-acetate-responsive gene that is highly expressed in an adult T-cell leukemia cell line. (PMID: 2398525) Hijikata M. … Shimotohno K. (J. Virol. 1990) 2 3 4 67
  2. The PMAIP1 gene on chromosome 18 is a candidate tumor suppressor gene in human pancreatic cancer. (PMID: 18231856) Ishida M. … Horii A. (Dig. Dis. Sci. 2008) 3 23
  3. The BH3-only member Noxa causes apoptosis in melanoma cells by multiple pathways. (PMID: 18408751) Hassan M. … Hengge U.R. (Oncogene 2008) 3 23
  4. BOK and NOXA are essential mediators of p53-dependent apoptosis. (PMID: 15102863) Yakovlev A.G. … Faden A.I. (J. Biol. Chem. 2004) 3 23
  5. Noxa in colorectal cancer: a study on DNA, mRNA and protein expression. (PMID: 12879012) Jansson A.K. … Sun X.F. (Oncogene 2003) 2 3

Products for PMAIP1 Gene

Sources for PMAIP1 Gene

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