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Aliases for PMAIP1 Gene

Aliases for PMAIP1 Gene

  • Phorbol-12-Myristate-13-Acetate-Induced Protein 1 2 3 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 Ischemic Neuropathy. Among its related pathways are Gene Expression and Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins.

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

Additional gene information for PMAIP1 Gene

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

Genomics for PMAIP1 Gene

GeneHancer (GH) Regulatory Elements for PMAIP1 Gene

Promoters and enhancers for PMAIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J059897 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.5 524 6.5 HDGF FOXA2 SMAD1 SIN3A FEZF1 IRF4 POLR2B E2F8 FOS KLF13 PMAIP1 ENSG00000267462 SDCCAG3P1 ENSG00000267269 ENSG00000267686 LOC342784 ENSG00000267061 LOC105372155 ENSG00000267215 CPLX4
GH18J059885 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 33.6 -13.8 -13804 1.9 PKNOX1 SMAD1 RB1 STAT5A BMI1 BATF IRF4 ZNF207 ATF7 ETV6 GC18P059885 PMAIP1
GH18J059951 Enhancer 1 Ensembl ENCODE 27 +53.2 53232 4.2 HDGF PKNOX1 SMAD1 STAT5A BMI1 BATF IRF4 GTF3C2 POLR3A ZNF366 PMAIP1 GC18P059948 NFE2L3P1 LOC105372151
GH18J059957 Enhancer 1 Ensembl ENCODE 19.3 +58.3 58285 2.3 HDAC1 ATF1 PKNOX1 FEZF1 TCF12 GATA2 ZNF366 RCOR1 ETV6 ATF7 PMAIP1 GC18P059948 NFE2L3P1
GH18J059904 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +5.3 5336 2.5 PKNOX1 SMAD1 FEZF1 ZNF2 GTF3C2 POLR2B GLIS2 ZNF207 ZNF143 FOS PMAIP1 LOC105372151
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PMAIP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PMAIP1 gene promoter:

Genomic Locations for PMAIP1 Gene

Genomic Locations for PMAIP1 Gene
chr18:59,899,948-59,904,306
(GRCh38/hg38)
Size:
4,359 bases
Orientation:
Plus strand
chr18:57,567,180-57,571,538
(GRCh37/hg19)

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

Post-translational modifications for PMAIP1 Gene

  • Ubiquitination at Lys48, isoforms=41, and Lys35
  • Modification sites at PhosphoSitePlus

Other Protein References for PMAIP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PMAIP1 Gene

Domains & Families for PMAIP1 Gene

Gene 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

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.

Phenotypes From GWAS Catalog for PMAIP1 Gene

Gene Ontology (GO) - Molecular Function for PMAIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15694340
genes like me logo Genes that share ontologies with PMAIP1: view
genes like me logo Genes that share phenotypes with PMAIP1: view

Animal Model Products

miRNA for PMAIP1 Gene

miRTarBase miRNAs that target PMAIP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMAIP1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
endoplasmic reticulum 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PMAIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12879012
GO:0005739 mitochondrion IDA,IEA 14500711
GO:0005741 mitochondrial outer membrane TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PMAIP1: view

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:0001836 release of cytochrome c from mitochondria IEA --
GO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS --
GO:0006915 apoptotic process IMP 17599062
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA --
GO:0006974 cellular response to DNA damage stimulus 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

(117) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PMAIP1 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for PMAIP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PMAIP1 Gene:

PMAIP1

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.

Evidence on tissue expression from TISSUES for PMAIP1 Gene

  • Bone marrow(2.3)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with PMAIP1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 100 (n)
dog
(Canis familiaris)
Mammalia PMAIP1 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pmaip1 34
  • 38 (a)
OneToOne
Species where no ortholog for PMAIP1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PMAIP1: view image

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 Variation AA Info Type
rs1000374717 -- 59,900,674(+) G/A intron_variant
rs1001089796 -- 59,899,834(+) T/G upstream_transcript_variant
rs1001376120 -- 59,902,085(+) G/A intron_variant
rs1002191572 -- 59,904,464(+) A/G downstream_transcript_variant
rs1002371860 -- 59,898,612(+) C/A upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv1055632 CNV loss 25217958
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)

Additional Variant Information for PMAIP1 Gene

Human Gene Mutation Database (HGMD)
PMAIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMAIP1

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

Disorders for PMAIP1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PMAIP1 Gene - From: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for PMAIP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Journal of virology 1990) 2 3 4 58
  2. The PMAIP1 gene on chromosome 18 is a candidate tumor suppressor gene in human pancreatic cancer. (PMID: 18231856) Ishida M … Horii A (Digestive diseases and sciences 2008) 3 22 58
  3. The BH3-only member Noxa causes apoptosis in melanoma cells by multiple pathways. (PMID: 18408751) Hassan M … Hengge UR (Oncogene 2008) 3 22 58
  4. Differential targeting of prosurvival Bcl-2 proteins by their BH3-only ligands allows complementary apoptotic function. (PMID: 15694340) Chen L … Huang DC (Molecular cell 2005) 3 4 58
  5. Involvement of Noxa in cellular apoptotic responses to interferon, double-stranded RNA, and virus infection. (PMID: 15705586) Sun Y … Leaman DW (The Journal of biological chemistry 2005) 3 4 58

Products for PMAIP1 Gene

Sources for PMAIP1 Gene

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