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PMPCB (peptidase, mitochondrial processing beta subunit)

Identity

Alias_namespeptidase (mitochondrial processing) beta
Alias_symbol (synonym)MPPB
MPPP52
Other aliasBeta-MPP
MPP11
P-52
HGNC (Hugo) PMPCB
LocusID (NCBI) 9512
Atlas_Id 51109
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 103297426 and ends at 103314686 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATL1 (14q22.1) / PMPCB (7q22.1)GOLIM4 (3q26.2) / PMPCB (7q22.1)PMPCB (7q22.1) / MAP4 (3p21.31)
PMPCB (7q22.1) / PCBD2 (5q31.1)PRKCH (14q23.1) / PMPCB (7q22.1)RPS24 (10q22.3) / PMPCB (7q22.1)
ZNF608 (5q23.2) / PMPCB (7q22.1)

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)PMPCB   9119
Cards
Entrez_Gene (NCBI)PMPCB  9512  peptidase, mitochondrial processing beta subunit
AliasesBeta-MPP; MPP11; MPPB; MPPP52; 
P-52
GeneCards (Weizmann)PMPCB
Ensembl hg19 (Hinxton)ENSG00000105819 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105819 [Gene_View]  chr7:103297426-103314686 [Contig_View]  PMPCB [Vega]
ICGC DataPortalENSG00000105819
TCGA cBioPortalPMPCB
AceView (NCBI)PMPCB
Genatlas (Paris)PMPCB
WikiGenes9512
SOURCE (Princeton)PMPCB
Genetics Home Reference (NIH)PMPCB
Genomic and cartography
GoldenPath hg38 (UCSC)PMPCB  -     chr7:103297426-103314686 +  7q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMPCB  -     7q22.1   [Description]    (hg19-Feb_2009)
EnsemblPMPCB - 7q22.1 [CytoView hg19]  PMPCB - 7q22.1 [CytoView hg38]
Mapping of homologs : NCBIPMPCB [Mapview hg19]  PMPCB [Mapview hg38]
OMIM603131   
Gene and transcription
Genbank (Entrez)AF054182 AI261792 AK000994 AK057656 AK090763
RefSeq transcript (Entrez)NM_004279
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PMPCB
Cluster EST : UnigeneHs.184211 [ NCBI ]
CGAP (NCI)Hs.184211
Alternative Splicing GalleryENSG00000105819
Gene ExpressionPMPCB [ NCBI-GEO ]   PMPCB [ EBI - ARRAY_EXPRESS ]   PMPCB [ SEEK ]   PMPCB [ MEM ]
Gene Expression Viewer (FireBrowse)PMPCB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9512
GTEX Portal (Tissue expression)PMPCB
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75439   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75439  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75439
Splice isoforms : SwissVarO75439
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 ]   
PhosPhoSitePlusO75439
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)PMPCB
DMDM Disease mutations9512
Blocks (Seattle)PMPCB
SuperfamilyO75439
Human Protein AtlasENSG00000105819
Peptide AtlasO75439
HPRD07539
IPIIPI00927892   IPI00909134   IPI00925866   IPI00926095   IPI00925183   IPI00289535   IPI00924722   
Protein Interaction databases
DIP (DOE-UCLA)O75439
IntAct (EBI)O75439
FunCoupENSG00000105819
BioGRIDPMPCB
STRING (EMBL)PMPCB
ZODIACPMPCB
Ontologies - Pathways
QuickGOO75439
Ontology : AmiGOmetalloendopeptidase activity  mitochondrion  mitochondrial respiratory chain complex III  mitochondrial matrix  mitochondrial electron transport, ubiquinol to cytochrome c  zinc ion binding  aerobic respiration  protein processing  
Ontology : EGO-EBImetalloendopeptidase activity  mitochondrion  mitochondrial respiratory chain complex III  mitochondrial matrix  mitochondrial electron transport, ubiquinol to cytochrome c  zinc ion binding  aerobic respiration  protein processing  
NDEx NetworkPMPCB
Atlas of Cancer Signalling NetworkPMPCB
Wikipedia pathwaysPMPCB
Orthology - Evolution
OrthoDB9512
GeneTree (enSembl)ENSG00000105819
Phylogenetic Trees/Animal Genes : TreeFamPMPCB
HOVERGENO75439
HOGENOMO75439
Homologs : HomoloGenePMPCB
Homology/Alignments : Family Browser (UCSC)PMPCB
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMPCB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMPCB
dbVarPMPCB
ClinVarPMPCB
1000_GenomesPMPCB 
Exome Variant ServerPMPCB
ExAC (Exome Aggregation Consortium)PMPCB (select the gene name)
Genetic variants : HAPMAP9512
Genomic Variants (DGV)PMPCB [DGVbeta]
DECIPHERPMPCB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPMPCB 
Mutations
ICGC Data PortalPMPCB 
TCGA Data PortalPMPCB 
Broad Tumor PortalPMPCB
OASIS PortalPMPCB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPMPCB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPMPCB
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 PMPCB
DgiDB (Drug Gene Interaction Database)PMPCB
DoCM (Curated mutations)PMPCB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMPCB (select a term)
intoGenPMPCB
Cancer3DPMPCB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603131   
Orphanet
MedgenPMPCB
Genetic Testing Registry PMPCB
NextProtO75439 [Medical]
TSGene9512
GENETestsPMPCB
Target ValidationPMPCB
Huge Navigator PMPCB [HugePedia]
snp3D : Map Gene to Disease9512
BioCentury BCIQPMPCB
ClinGenPMPCB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9512
Chemical/Pharm GKB GenePA33445
Clinical trialPMPCB
Miscellaneous
canSAR (ICR)PMPCB (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePMPCB
EVEXPMPCB
GoPubMedPMPCB
iHOPPMPCB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:11:00 CEST 2017

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