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TRIAP1 (TP53 regulated inhibitor of apoptosis 1)

Written2011-02Veruska Alves, Roberta Felix, Andre Vettore, Gisele Colleoni
Universidade Federal de Sao Paulo - UNIFESP, Laboratory of Cancer Molecular Biology, Sao Paulo, Brazil

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)P53CSV
WF-1
HSPC132
p53CSV
MDM35
Other alias
HGNC (Hugo) TRIAP1
LocusID (NCBI) 51499
Atlas_Id 44577
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 120443961 and ends at 120446412 bp from pter ( according to hg19-Feb_2009)  [Mapping TRIAP1.png]
Fusion genes
(updated 2016)
CALU (7q32.1) / TRIAP1 (12q24.31)

DNA/RNA

 
  Figure 1.
Description 2452 bases, starts at 119366147 and ends at 119368598 bp from promoter with minus strand orientation.
Transcription This gene contains 2 introns which transcription gives 3 different mRNAs, 2 alternatively spliced variants and 1 unspliced form that encodes good proteins (see figure 1).

Protein

Note The P53CSV protein is involved in programmed cell death. It contains a p53-binding site and it is induced when cells are at low genotoxic stress. It is probably involved in cell survival by interaction between Apaf-1 (apoptosis protease activating factor 1) and heat shock protein 70 (Hsp70) with subsequent inhibition of caspase-9 activation.
Description This protein contains 76 amino acids and has 8786 (Da) of weight.
 
  Figure 2.
Localisation The protein is localized in cytoplasm and perinuclear region.
Function P53CSV is a novel p53-target gene. This gene can modulate apoptotic pathways by interaction with heat shock protein 70 (HSP70), preventing the induction of apoptosis. When cells are submitted to low levels of genotoxic stress, it is an important player in P53-mediated cell survivor pathway (Park and Nakamura, 2005; Felix et al., 2009).
P53CSV can inhibit apoptosis through interaction with APAF1 and HSP70 complex.
 
  Figure 3. Hypothetical illustration about TRIAP1 (P53CSV) involvement in the p53-dependent cell survival pathway. The TRIAP1 mediates cell survival at low level of genotoxic stress by inhibiting activation of the complex APAF-1/caspase-9/cytochrome C preventing the apoptosis induction.
 

Mutations

Note There are two identified alterations until now. One of them is located at position 270 of mRNA and the allele G (guanine) is switched to the allele C (cytosine) at position 77 of the amino acid sequence protein. The other one is a synonymous alteration localized at position 160 of mRNA involving the protein residue Leucine. The allele C (cytosine) is switched to the allele T (thymine) at position 40 of the amino acid sequence protein (NCBI).

Implicated in

Note
  
Entity Multiple myeloma
Note Felix et al. (2009), described that P53CSV gene was upregulated in multiple myeloma SAGE (serial analysis of gene expression) library when compared to normal/reactive plasma cells. They suggested that the interaction between P53CSV/Hsp70 should be evaluated as a potential target for multiple myeloma patients. Real time quantitative PCR analyses confirmed upregulation of P53CSV in 90% of multiple myeloma plasma samples cells.
  
  
Entity Inflammatory stress
Note Staib et al. (2005) reported P53CSV expression in colon carcinoma cells in the course of inflammatory responses associated with four microenvironmental components: nitric oxide, hydrogen peroxide, DNA replication arrest, and hypoxia.
  
  
Entity Solid cancers
Note Yu Kun et al. (2008), using a genome-wide computational strategy identified genes exhibiting precise transcriptional control in solid tumors and evaluated if they linked to multiple cancer-related pathways such as metastatic and invasive potential. siRNA knockdown of five genes supports the existence of precisely controlled genes in solid tumors, including P53CSV.
  

Bibliography

SAGE analysis highlights the importance of p53csv, ddx5, mapkapk2 and ranbp2 to multiple myeloma tumorigenesis.
Felix RS, Colleoni GW, Caballero OL, Yamamoto M, Almeida MS, Andrade VC, Chauffaille Mde L, Silva WA Jr, Begnami MD, Soares FA, Simpson AJ, Zago MA, Vettore AL.
Cancer Lett. 2009 Jun 8;278(1):41-8. Epub 2009 Jan 25.
PMID 19171422
 
p53CSV, a novel p53-inducible gene involved in the p53-dependent cell-survival pathway.
Park WR, Nakamura Y.
Cancer Res. 2005 Feb 15;65(4):1197-206.
PMID 15735003
 
The p53 tumor suppressor network is a key responder to microenvironmental components of chronic inflammatory stress.
Staib F, Robles AI, Varticovski L, Wang XW, Zeeberg BR, Sirotin M, Zhurkin VB, Hofseth LJ, Hussain SP, Weinstein JN, Galle PR, Harris CC.
Cancer Res. 2005 Nov 15;65(22):10255-64.
PMID 16288013
 
A precisely regulated gene expression cassette potently modulates metastasis and survival in multiple solid cancers.
Yu K, Ganesan K, Tan LK, Laban M, Wu J, Zhao XD, Li H, Leung CH, Zhu Y, Wei CL, Hooi SC, Miller L, Tan P.
PLoS Genet. 2008 Jul 18;4(7):e1000129.
PMID 18636107
 

Citation

This paper should be referenced as such :
Alves, V ; Felix, R ; Vettore, A ; Colleoni, G
TRIAP1 (TP53 regulated inhibitor of apoptosis 1)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(9):758-760.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/TRIAP1ID44577ch12q24.html


External links

Nomenclature
HGNC (Hugo)TRIAP1   26937
Cards
AtlasTRIAP1ID44577ch12q24
Entrez_Gene (NCBI)TRIAP1  51499  TP53 regulated inhibitor of apoptosis 1
AliasesHSPC132; MDM35; P53CSV; WF-1
GeneCards (Weizmann)TRIAP1
Ensembl hg19 (Hinxton)ENSG00000170855 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170855 [Gene_View]  chr12:120443961-120446412 [Contig_View]  TRIAP1 [Vega]
ICGC DataPortalENSG00000170855
TCGA cBioPortalTRIAP1
AceView (NCBI)TRIAP1
Genatlas (Paris)TRIAP1
WikiGenes51499
SOURCE (Princeton)TRIAP1
Genetics Home Reference (NIH)TRIAP1
Genomic and cartography
GoldenPath hg38 (UCSC)TRIAP1  -     chr12:120443961-120446412 -  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TRIAP1  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblTRIAP1 - 12q24.31 [CytoView hg19]  TRIAP1 - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBITRIAP1 [Mapview hg19]  TRIAP1 [Mapview hg38]
OMIM614943   
Gene and transcription
Genbank (Entrez)AF161481 AK312006 BC002638 BC055313 CB141335
RefSeq transcript (Entrez)NM_016399
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TRIAP1
Cluster EST : UnigeneHs.69499 [ NCBI ]
CGAP (NCI)Hs.69499
Alternative Splicing GalleryENSG00000170855
Gene ExpressionTRIAP1 [ NCBI-GEO ]   TRIAP1 [ EBI - ARRAY_EXPRESS ]   TRIAP1 [ SEEK ]   TRIAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TRIAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51499
GTEX Portal (Tissue expression)TRIAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43715   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43715  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43715
Splice isoforms : SwissVarO43715
PhosPhoSitePlusO43715
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)MDM35_apoptosis   
Domain families : Pfam (Sanger)UPF0203 (PF05254)   
Domain families : Pfam (NCBI)pfam05254   
Conserved Domain (NCBI)TRIAP1
DMDM Disease mutations51499
Blocks (Seattle)TRIAP1
PDB (SRS)4XZS    4XZV   
PDB (PDBSum)4XZS    4XZV   
PDB (IMB)4XZS    4XZV   
PDB (RSDB)4XZS    4XZV   
Structural Biology KnowledgeBase4XZS    4XZV   
SCOP (Structural Classification of Proteins)4XZS    4XZV   
CATH (Classification of proteins structures)4XZS    4XZV   
SuperfamilyO43715
Human Protein AtlasENSG00000170855
Peptide AtlasO43715
HPRD13698
IPIIPI00013829   
Protein Interaction databases
DIP (DOE-UCLA)O43715
IntAct (EBI)O43715
FunCoupENSG00000170855
BioGRIDTRIAP1
STRING (EMBL)TRIAP1
ZODIACTRIAP1
Ontologies - Pathways
QuickGOO43715
Ontology : AmiGOp53 binding  protein binding  nucleoplasm  mitochondrion  mitochondrial intermembrane space  mitochondrial intermembrane space  apoptotic process  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  phospholipid transport  DNA damage response, signal transduction by p53 class mediator  cellular response to UV  regulation of apoptotic process  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  protein complex  positive regulation of transcription from RNA polymerase II promoter  perinuclear region of cytoplasm  negative regulation of release of cytochrome c from mitochondria  regulation of membrane lipid distribution  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  phosphatidic acid transporter activity  positive regulation of phospholipid transport  
Ontology : EGO-EBIp53 binding  protein binding  nucleoplasm  mitochondrion  mitochondrial intermembrane space  mitochondrial intermembrane space  apoptotic process  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  phospholipid transport  DNA damage response, signal transduction by p53 class mediator  cellular response to UV  regulation of apoptotic process  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  protein complex  positive regulation of transcription from RNA polymerase II promoter  perinuclear region of cytoplasm  negative regulation of release of cytochrome c from mitochondria  regulation of membrane lipid distribution  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  phosphatidic acid transporter activity  positive regulation of phospholipid transport  
REACTOMEO43715 [protein]
REACTOME PathwaysR-HSA-6803204 [pathway]   
NDEx NetworkTRIAP1
Atlas of Cancer Signalling NetworkTRIAP1
Wikipedia pathwaysTRIAP1
Orthology - Evolution
OrthoDB51499
GeneTree (enSembl)ENSG00000170855
Phylogenetic Trees/Animal Genes : TreeFamTRIAP1
HOVERGENO43715
HOGENOMO43715
Homologs : HomoloGeneTRIAP1
Homology/Alignments : Family Browser (UCSC)TRIAP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTRIAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TRIAP1
dbVarTRIAP1
ClinVarTRIAP1
1000_GenomesTRIAP1 
Exome Variant ServerTRIAP1
ExAC (Exome Aggregation Consortium)TRIAP1 (select the gene name)
Genetic variants : HAPMAP51499
Genomic Variants (DGV)TRIAP1 [DGVbeta]
DECIPHERTRIAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTRIAP1 
Mutations
ICGC Data PortalTRIAP1 
TCGA Data PortalTRIAP1 
Broad Tumor PortalTRIAP1
OASIS PortalTRIAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTRIAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTRIAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TRIAP1
DgiDB (Drug Gene Interaction Database)TRIAP1
DoCM (Curated mutations)TRIAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TRIAP1 (select a term)
intoGenTRIAP1
NCG5 (London)TRIAP1
Cancer3DTRIAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614943   
Orphanet
MedgenTRIAP1
Genetic Testing Registry TRIAP1
NextProtO43715 [Medical]
TSGene51499
GENETestsTRIAP1
Target ValidationTRIAP1
Huge Navigator TRIAP1 [HugePedia]
snp3D : Map Gene to Disease51499
BioCentury BCIQTRIAP1
ClinGenTRIAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51499
Chemical/Pharm GKB GenePA143485661
Clinical trialTRIAP1
Miscellaneous
canSAR (ICR)TRIAP1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTRIAP1
EVEXTRIAP1
GoPubMedTRIAP1
iHOPTRIAP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 18:42:36 CEST 2017

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