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PDCD6IP (programmed cell death 6 interacting protein)

Identity

Alias_namesprogrammed cell death 6-interacting protein
Alias_symbol (synonym)Alix
AIP1
Hp95
Other aliasALIX
DRIP4
HP95
HGNC (Hugo) PDCD6IP
LocusID (NCBI) 10015
Atlas_Id 43403
Location 3p22.3  [Link to chromosome band 3p22]
Location_base_pair Starts at 33798571 and ends at 33869707 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PDCD6IP (3p22.3) / ARHGAP21 (10p12.1)PDCD6IP (3p22.3) / PDCD10 (3q26.1)PLEKHJ1 (19p13.3) / PDCD6IP (3p22.3)
SGSM2 (17p13.3) / PDCD6IP (3p22.3)

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(11)(q23q23) KMT2A/CBL::t(11;11)(q23;q23) KMT2A/CBL


External links

Nomenclature
HGNC (Hugo)PDCD6IP   8766
Cards
Entrez_Gene (NCBI)PDCD6IP  10015  programmed cell death 6 interacting protein
AliasesAIP1; ALIX; DRIP4; HP95
GeneCards (Weizmann)PDCD6IP
Ensembl hg19 (Hinxton)ENSG00000170248 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170248 [Gene_View]  chr3:33798571-33869707 [Contig_View]  PDCD6IP [Vega]
ICGC DataPortalENSG00000170248
TCGA cBioPortalPDCD6IP
AceView (NCBI)PDCD6IP
Genatlas (Paris)PDCD6IP
WikiGenes10015
SOURCE (Princeton)PDCD6IP
Genetics Home Reference (NIH)PDCD6IP
Genomic and cartography
GoldenPath hg38 (UCSC)PDCD6IP  -     chr3:33798571-33869707 +  3p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDCD6IP  -     3p22.3   [Description]    (hg19-Feb_2009)
EnsemblPDCD6IP - 3p22.3 [CytoView hg19]  PDCD6IP - 3p22.3 [CytoView hg38]
Mapping of homologs : NCBIPDCD6IP [Mapview hg19]  PDCD6IP [Mapview hg38]
OMIM608074   
Gene and transcription
Genbank (Entrez)AB037796 AF151793 AF250394 AF349951 AI346371
RefSeq transcript (Entrez)NM_001162429 NM_001256192 NM_013374
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDCD6IP
Cluster EST : UnigeneHs.475896 [ NCBI ]
CGAP (NCI)Hs.475896
Alternative Splicing GalleryENSG00000170248
Gene ExpressionPDCD6IP [ NCBI-GEO ]   PDCD6IP [ EBI - ARRAY_EXPRESS ]   PDCD6IP [ SEEK ]   PDCD6IP [ MEM ]
Gene Expression Viewer (FireBrowse)PDCD6IP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10015
GTEX Portal (Tissue expression)PDCD6IP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WUM4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WUM4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WUM4
Splice isoforms : SwissVarQ8WUM4
PhosPhoSitePlusQ8WUM4
Domaine pattern : Prosite (Expaxy)BRO1 (PS51180)   
Domains : Interpro (EBI)ALIX_V_dom    BRO1_dom   
Domain families : Pfam (Sanger)ALIX_LYPXL_bnd (PF13949)    BRO1 (PF03097)   
Domain families : Pfam (NCBI)pfam13949    pfam03097   
Domain families : Smart (EMBL)BRO1 (SM01041)  
Conserved Domain (NCBI)PDCD6IP
DMDM Disease mutations10015
Blocks (Seattle)PDCD6IP
PDB (SRS)2OEV    2OEW    2OEX    2OJQ    2R02    2R03    2R05    2XS1    2XS8    2ZNE    3C3O    3C3Q    3C3R    3E1R    3WUV    4JJY   
PDB (PDBSum)2OEV    2OEW    2OEX    2OJQ    2R02    2R03    2R05    2XS1    2XS8    2ZNE    3C3O    3C3Q    3C3R    3E1R    3WUV    4JJY   
PDB (IMB)2OEV    2OEW    2OEX    2OJQ    2R02    2R03    2R05    2XS1    2XS8    2ZNE    3C3O    3C3Q    3C3R    3E1R    3WUV    4JJY   
PDB (RSDB)2OEV    2OEW    2OEX    2OJQ    2R02    2R03    2R05    2XS1    2XS8    2ZNE    3C3O    3C3Q    3C3R    3E1R    3WUV    4JJY   
Structural Biology KnowledgeBase2OEV    2OEW    2OEX    2OJQ    2R02    2R03    2R05    2XS1    2XS8    2ZNE    3C3O    3C3Q    3C3R    3E1R    3WUV    4JJY   
SCOP (Structural Classification of Proteins)2OEV    2OEW    2OEX    2OJQ    2R02    2R03    2R05    2XS1    2XS8    2ZNE    3C3O    3C3Q    3C3R    3E1R    3WUV    4JJY   
CATH (Classification of proteins structures)2OEV    2OEW    2OEX    2OJQ    2R02    2R03    2R05    2XS1    2XS8    2ZNE    3C3O    3C3Q    3C3R    3E1R    3WUV    4JJY   
SuperfamilyQ8WUM4
Human Protein AtlasENSG00000170248
Peptide AtlasQ8WUM4
HPRD06425
IPIIPI00246058   IPI00938079   IPI01017927   IPI00924740   IPI00926014   IPI00924996   
Protein Interaction databases
DIP (DOE-UCLA)Q8WUM4
IntAct (EBI)Q8WUM4
FunCoupENSG00000170248
BioGRIDPDCD6IP
STRING (EMBL)PDCD6IP
ZODIACPDCD6IP
Ontologies - Pathways
QuickGOQ8WUM4
Ontology : AmiGOactomyosin contractile ring assembly  cell separation after cytokinesis  immunological synapse  protein binding  microtubule organizing center  cytosol  cytosol  bicellular tight junction  focal adhesion  apoptotic process  nucleus organization  mitotic metaphase plate congression  regulation of centrosome duplication  protein transport  membrane  viral life cycle  proteinase activated receptor binding  multivesicular body assembly  viral budding via host ESCRT complex  viral budding via host ESCRT complex  melanosome  actomyosin  protein homodimerization activity  myelin sheath  maintenance of epithelial cell apical/basal polarity  calcium-dependent protein binding  extracellular exosome  bicellular tight junction assembly  endoplasmic reticulum exit site  regulation of membrane permeability  ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway  regulation of mitotic spindle assembly  positive regulation of exosomal secretion  regulation of extracellular exosome assembly  positive regulation of extracellular exosome assembly  extracellular vesicle  
Ontology : EGO-EBIactomyosin contractile ring assembly  cell separation after cytokinesis  immunological synapse  protein binding  microtubule organizing center  cytosol  cytosol  bicellular tight junction  focal adhesion  apoptotic process  nucleus organization  mitotic metaphase plate congression  regulation of centrosome duplication  protein transport  membrane  viral life cycle  proteinase activated receptor binding  multivesicular body assembly  viral budding via host ESCRT complex  viral budding via host ESCRT complex  melanosome  actomyosin  protein homodimerization activity  myelin sheath  maintenance of epithelial cell apical/basal polarity  calcium-dependent protein binding  extracellular exosome  bicellular tight junction assembly  endoplasmic reticulum exit site  regulation of membrane permeability  ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway  regulation of mitotic spindle assembly  positive regulation of exosomal secretion  regulation of extracellular exosome assembly  positive regulation of extracellular exosome assembly  extracellular vesicle  
Pathways : KEGGEndocytosis   
NDEx NetworkPDCD6IP
Atlas of Cancer Signalling NetworkPDCD6IP
Wikipedia pathwaysPDCD6IP
Orthology - Evolution
OrthoDB10015
GeneTree (enSembl)ENSG00000170248
Phylogenetic Trees/Animal Genes : TreeFamPDCD6IP
HOVERGENQ8WUM4
HOGENOMQ8WUM4
Homologs : HomoloGenePDCD6IP
Homology/Alignments : Family Browser (UCSC)PDCD6IP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDCD6IP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDCD6IP
dbVarPDCD6IP
ClinVarPDCD6IP
1000_GenomesPDCD6IP 
Exome Variant ServerPDCD6IP
ExAC (Exome Aggregation Consortium)PDCD6IP (select the gene name)
Genetic variants : HAPMAP10015
Genomic Variants (DGV)PDCD6IP [DGVbeta]
DECIPHERPDCD6IP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDCD6IP 
Mutations
ICGC Data PortalPDCD6IP 
TCGA Data PortalPDCD6IP 
Broad Tumor PortalPDCD6IP
OASIS PortalPDCD6IP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDCD6IP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDCD6IP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PDCD6IP
DgiDB (Drug Gene Interaction Database)PDCD6IP
DoCM (Curated mutations)PDCD6IP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDCD6IP (select a term)
intoGenPDCD6IP
Cancer3DPDCD6IP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608074   
Orphanet
MedgenPDCD6IP
Genetic Testing Registry PDCD6IP
NextProtQ8WUM4 [Medical]
TSGene10015
GENETestsPDCD6IP
Target ValidationPDCD6IP
Huge Navigator PDCD6IP [HugePedia]
snp3D : Map Gene to Disease10015
BioCentury BCIQPDCD6IP
ClinGenPDCD6IP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10015
Chemical/Pharm GKB GenePA33116
Clinical trialPDCD6IP
Miscellaneous
canSAR (ICR)PDCD6IP (select the gene name)
Probes
Litterature
PubMed224 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDCD6IP
EVEXPDCD6IP
GoPubMedPDCD6IP
iHOPPDCD6IP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:24:09 CEST 2017

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