Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PMPCA (peptidase, mitochondrial processing alpha subunit)

Identity

Alias_namesINPP5E
inositol polyphosphate-5-phosphatase, 72 kD
peptidase (mitochondrial processing) alpha
Alias_symbol (synonym)KIAA0123
Alpha-MPP
Other aliasP-55
SCAR2
HGNC (Hugo) PMPCA
LocusID (NCBI) 23203
Atlas_Id 55081
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 136410573 and ends at 136423761 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BOLA2 (16p11.2) / PMPCA (9q34.3)PMPCA (9q34.3) / GATAD2A (19p13.11)PMPCA (9q34.3) / RILPL1 (12q24.31)
RILPL1 (12q24.31) / PMPCA (9q34.3)

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

 


External links

Nomenclature
HGNC (Hugo)PMPCA   18667
Cards
Entrez_Gene (NCBI)PMPCA  23203  peptidase, mitochondrial processing alpha subunit
AliasesAlpha-MPP; INPP5E; P-55; SCAR2
GeneCards (Weizmann)PMPCA
Ensembl hg19 (Hinxton)ENSG00000165688 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165688 [Gene_View]  chr9:136410573-136423761 [Contig_View]  PMPCA [Vega]
ICGC DataPortalENSG00000165688
TCGA cBioPortalPMPCA
AceView (NCBI)PMPCA
Genatlas (Paris)PMPCA
WikiGenes23203
SOURCE (Princeton)PMPCA
Genetics Home Reference (NIH)PMPCA
Genomic and cartography
GoldenPath hg38 (UCSC)PMPCA  -     chr9:136410573-136423761 +  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMPCA  -     9q34.3   [Description]    (hg19-Feb_2009)
EnsemblPMPCA - 9q34.3 [CytoView hg19]  PMPCA - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBIPMPCA [Mapview hg19]  PMPCA [Mapview hg38]
OMIM213200   613036   
Gene and transcription
Genbank (Entrez)AA037280 AK091455 AK129769 AK296617 AK299304
RefSeq transcript (Entrez)NM_001282944 NM_001282946 NM_015160
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PMPCA
Cluster EST : UnigeneHs.495471 [ NCBI ]
CGAP (NCI)Hs.495471
Alternative Splicing GalleryENSG00000165688
Gene ExpressionPMPCA [ NCBI-GEO ]   PMPCA [ EBI - ARRAY_EXPRESS ]   PMPCA [ SEEK ]   PMPCA [ MEM ]
Gene Expression Viewer (FireBrowse)PMPCA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23203
GTEX Portal (Tissue expression)PMPCA
Human Protein AtlasENSG00000165688-PMPCA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ10713   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ10713  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ10713
Splice isoforms : SwissVarQ10713
Catalytic activity : Enzyme3.4.24.64 [ Enzyme-Expasy ]   3.4.24.643.4.24.64 [ IntEnz-EBI ]   3.4.24.64 [ BRENDA ]   3.4.24.64 [ KEGG ]   
PhosPhoSitePlusQ10713
Domaine pattern : Prosite (Expaxy)INSULINASE (PS00143)   
Domains : Interpro (EBI)Metalloenz_LuxS/M16    Pept_M16_dom    Pept_M16_N    Pept_M16_Zn_BS    Peptidase_M16_C   
Domain families : Pfam (Sanger)Peptidase_M16 (PF00675)    Peptidase_M16_C (PF05193)   
Domain families : Pfam (NCBI)pfam00675    pfam05193   
Conserved Domain (NCBI)PMPCA
DMDM Disease mutations23203
Blocks (Seattle)PMPCA
SuperfamilyQ10713
Human Protein Atlas [tissue]ENSG00000165688-PMPCA [tissue]
Peptide AtlasQ10713
HPRD07500
IPIIPI00166749   IPI01015748   IPI00908803   IPI00982856   IPI00442912   IPI01017963   
Protein Interaction databases
DIP (DOE-UCLA)Q10713
IntAct (EBI)Q10713
FunCoupENSG00000165688
BioGRIDPMPCA
STRING (EMBL)PMPCA
ZODIACPMPCA
Ontologies - Pathways
QuickGOQ10713
Ontology : AmiGOmetalloendopeptidase activity  extracellular space  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial matrix  proteolysis  protein processing involved in protein targeting to mitochondrion  zinc ion binding  
Ontology : EGO-EBImetalloendopeptidase activity  extracellular space  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial matrix  proteolysis  protein processing involved in protein targeting to mitochondrion  zinc ion binding  
NDEx NetworkPMPCA
Atlas of Cancer Signalling NetworkPMPCA
Wikipedia pathwaysPMPCA
Orthology - Evolution
OrthoDB23203
GeneTree (enSembl)ENSG00000165688
Phylogenetic Trees/Animal Genes : TreeFamPMPCA
HOVERGENQ10713
HOGENOMQ10713
Homologs : HomoloGenePMPCA
Homology/Alignments : Family Browser (UCSC)PMPCA
Gene fusions - Rearrangements
Tumor Fusion PortalPMPCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMPCA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMPCA
dbVarPMPCA
ClinVarPMPCA
1000_GenomesPMPCA 
Exome Variant ServerPMPCA
ExAC (Exome Aggregation Consortium)ENSG00000165688
GNOMAD BrowserENSG00000165688
Genetic variants : HAPMAP23203
Genomic Variants (DGV)PMPCA [DGVbeta]
DECIPHERPMPCA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPMPCA 
Mutations
ICGC Data PortalPMPCA 
TCGA Data PortalPMPCA 
Broad Tumor PortalPMPCA
OASIS PortalPMPCA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPMPCA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPMPCA
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PMPCA
DgiDB (Drug Gene Interaction Database)PMPCA
DoCM (Curated mutations)PMPCA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMPCA (select a term)
intoGenPMPCA
Cancer3DPMPCA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM213200    613036   
Orphanet1429   
DisGeNETPMPCA
MedgenPMPCA
Genetic Testing Registry PMPCA
NextProtQ10713 [Medical]
TSGene23203
GENETestsPMPCA
Target ValidationPMPCA
Huge Navigator PMPCA [HugePedia]
snp3D : Map Gene to Disease23203
BioCentury BCIQPMPCA
ClinGenPMPCA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23203
Chemical/Pharm GKB GenePA38629
Clinical trialPMPCA
Miscellaneous
canSAR (ICR)PMPCA (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePMPCA
EVEXPMPCA
GoPubMedPMPCA
iHOPPMPCA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:29:19 CET 2017

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