Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PMAIP1 (phorbol-12-myristate-13-acetate-induced protein 1)

Identity

Alias_symbol (synonym)APR
NOXA
Other alias
HGNC (Hugo) PMAIP1
LocusID (NCBI) 5366
Atlas_Id 41754
Location 18q21.32  [Link to chromosome band 18q21]
Location_base_pair Starts at 59899960 and ends at 59904306 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PMAIP1   9108
Cards
Entrez_Gene (NCBI)PMAIP1  5366  phorbol-12-myristate-13-acetate-induced protein 1
AliasesAPR; NOXA
GeneCards (Weizmann)PMAIP1
Ensembl hg19 (Hinxton)ENSG00000141682 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141682 [Gene_View]  chr18:59899960-59904306 [Contig_View]  PMAIP1 [Vega]
ICGC DataPortalENSG00000141682
TCGA cBioPortalPMAIP1
AceView (NCBI)PMAIP1
Genatlas (Paris)PMAIP1
WikiGenes5366
SOURCE (Princeton)PMAIP1
Genetics Home Reference (NIH)PMAIP1
Genomic and cartography
GoldenPath hg38 (UCSC)PMAIP1  -     chr18:59899960-59904306 +  18q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMAIP1  -     18q21.32   [Description]    (hg19-Feb_2009)
EnsemblPMAIP1 - 18q21.32 [CytoView hg19]  PMAIP1 - 18q21.32 [CytoView hg38]
Mapping of homologs : NCBIPMAIP1 [Mapview hg19]  PMAIP1 [Mapview hg38]
OMIM604959   
Gene and transcription
Genbank (Entrez)AK311943 BC013120 BC032663 BF667112 BM999509
RefSeq transcript (Entrez)NM_021127
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PMAIP1
Cluster EST : UnigeneHs.96 [ NCBI ]
CGAP (NCI)Hs.96
Alternative Splicing GalleryENSG00000141682
Gene ExpressionPMAIP1 [ NCBI-GEO ]   PMAIP1 [ EBI - ARRAY_EXPRESS ]   PMAIP1 [ SEEK ]   PMAIP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PMAIP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5366
GTEX Portal (Tissue expression)PMAIP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13794   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13794  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13794
Splice isoforms : SwissVarQ13794
PhosPhoSitePlusQ13794
Domains : Interpro (EBI)Noxa   
Domain families : Pfam (Sanger)PMAIP1 (PF15150)   
Domain families : Pfam (NCBI)pfam15150   
Conserved Domain (NCBI)PMAIP1
DMDM Disease mutations5366
Blocks (Seattle)PMAIP1
PDB (SRS)3MQP   
PDB (PDBSum)3MQP   
PDB (IMB)3MQP   
PDB (RSDB)3MQP   
Structural Biology KnowledgeBase3MQP   
SCOP (Structural Classification of Proteins)3MQP   
CATH (Classification of proteins structures)3MQP   
SuperfamilyQ13794
Human Protein AtlasENSG00000141682
Peptide AtlasQ13794
HPRD12002
IPIIPI00015177   IPI00166820   
Protein Interaction databases
DIP (DOE-UCLA)Q13794
IntAct (EBI)Q13794
FunCoupENSG00000141682
BioGRIDPMAIP1
STRING (EMBL)PMAIP1
ZODIACPMAIP1
Ontologies - Pathways
QuickGOQ13794
Ontology : AmiGOrelease of cytochrome c from mitochondria  protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  protein binding  nucleus  mitochondrion  mitochondrial outer membrane  cytosol  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cellular response to DNA damage stimulus  proteasomal protein catabolic process  positive regulation of glucose metabolic process  negative regulation of mitochondrial membrane potential  positive regulation of protein oligomerization  cellular response to glucose starvation  regulation of apoptotic process  T cell homeostasis  positive regulation of apoptotic process  positive regulation of apoptotic process  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  response to dsRNA  positive regulation of DNA damage response, signal transduction by p53 class mediator  regulation of mitochondrial membrane permeability  defense response to virus  cellular response to hypoxia  intrinsic apoptotic signaling pathway by p53 class mediator  reactive oxygen species metabolic process  positive regulation of release of cytochrome c from mitochondria  positive regulation of release of cytochrome c from mitochondria  intrinsic apoptotic signaling pathway  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  positive regulation of intrinsic apoptotic signaling pathway  positive regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIrelease of cytochrome c from mitochondria  protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  protein binding  nucleus  mitochondrion  mitochondrial outer membrane  cytosol  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cellular response to DNA damage stimulus  proteasomal protein catabolic process  positive regulation of glucose metabolic process  negative regulation of mitochondrial membrane potential  positive regulation of protein oligomerization  cellular response to glucose starvation  regulation of apoptotic process  T cell homeostasis  positive regulation of apoptotic process  positive regulation of apoptotic process  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  response to dsRNA  positive regulation of DNA damage response, signal transduction by p53 class mediator  regulation of mitochondrial membrane permeability  defense response to virus  cellular response to hypoxia  intrinsic apoptotic signaling pathway by p53 class mediator  reactive oxygen species metabolic process  positive regulation of release of cytochrome c from mitochondria  positive regulation of release of cytochrome c from mitochondria  intrinsic apoptotic signaling pathway  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  positive regulation of intrinsic apoptotic signaling pathway  positive regulation of intrinsic apoptotic signaling pathway  
Pathways : KEGGp53 signaling pathway    Viral carcinogenesis   
NDEx NetworkPMAIP1
Atlas of Cancer Signalling NetworkPMAIP1
Wikipedia pathwaysPMAIP1
Orthology - Evolution
OrthoDB5366
GeneTree (enSembl)ENSG00000141682
Phylogenetic Trees/Animal Genes : TreeFamPMAIP1
HOVERGENQ13794
HOGENOMQ13794
Homologs : HomoloGenePMAIP1
Homology/Alignments : Family Browser (UCSC)PMAIP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMAIP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMAIP1
dbVarPMAIP1
ClinVarPMAIP1
1000_GenomesPMAIP1 
Exome Variant ServerPMAIP1
ExAC (Exome Aggregation Consortium)PMAIP1 (select the gene name)
Genetic variants : HAPMAP5366
Genomic Variants (DGV)PMAIP1 [DGVbeta]
DECIPHERPMAIP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPMAIP1 
Mutations
ICGC Data PortalPMAIP1 
TCGA Data PortalPMAIP1 
Broad Tumor PortalPMAIP1
OASIS PortalPMAIP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPMAIP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPMAIP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PMAIP1
DgiDB (Drug Gene Interaction Database)PMAIP1
DoCM (Curated mutations)PMAIP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMAIP1 (select a term)
intoGenPMAIP1
Cancer3DPMAIP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604959   
Orphanet
MedgenPMAIP1
Genetic Testing Registry PMAIP1
NextProtQ13794 [Medical]
TSGene5366
GENETestsPMAIP1
Target ValidationPMAIP1
Huge Navigator PMAIP1 [HugePedia]
snp3D : Map Gene to Disease5366
BioCentury BCIQPMAIP1
ClinGenPMAIP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5366
Chemical/Pharm GKB GenePA33434
Clinical trialPMAIP1
Miscellaneous
canSAR (ICR)PMAIP1 (select the gene name)
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePMAIP1
EVEXPMAIP1
GoPubMedPMAIP1
iHOPPMAIP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:25:22 CEST 2017

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