ENSG00000105819


Homo sapiens

Features
Gene ID: ENSG00000105819
  
Biological name :PMPCB
  
Synonyms : O75439 / peptidase, mitochondrial processing beta subunit / PMPCB
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q22.1
Gene start: 103297422
Gene end: 103329511
  
Corresponding Affymetrix probe sets: 1570542_a_at (Human Genome U133 Plus 2.0 Array)   201682_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000408682
Ensembl peptide - ENSP00000397884
Ensembl peptide - ENSP00000402859
Ensembl peptide - ENSP00000249269
Ensembl peptide - ENSP00000388934
Ensembl peptide - ENSP00000390035
NCBI entrez gene - 9512     See in Manteia.
OMIM - 603131
RefSeq - XM_006716181
RefSeq - NM_004279
RefSeq - XM_005250717
RefSeq Peptide - NP_004270
swissprot - G3V0E4
swissprot - F8WAZ6
swissprot - F8WEC8
swissprot - O75439
swissprot - F8WBE1
swissprot - F8WEA6
Ensembl - ENSG00000105819
  
Related genetic diseases (OMIM): 617954 - Multiple mitochondrial dysfunctions syndrome 6, 617954
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pmpcbENSDARG00000016979Danio rerio
 PMPCBENSGALG00000008280Gallus gallus
 PmpcbENSMUSG00000029017Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P31930 / UQCRC1 / ubiquinol-cytochrome c reductase core protein 1ENSG0000001025654


Protein motifs (from Interpro)
Interpro ID Name
 IPR001431  Peptidase M16, zinc-binding site
 IPR007863  Peptidase M16, C-terminal
 IPR011249  Metalloenzyme, LuxS/M16 peptidase-like
 IPR011765  Peptidase M16, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c IBA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006627 protein processing involved in protein targeting to mitochondrion IEA
 biological_processGO:0006851 mitochondrial calcium ion transmembrane transport TAS
 biological_processGO:0009060 aerobic respiration IBA
 biological_processGO:0016485 protein processing IBA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005750 mitochondrial respiratory chain complex III IBA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0017087 mitochondrial processing peptidase complex IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004175 endopeptidase activity IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding IBA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Mitochondrial protein import
Processing of SMDT1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000162972 MAIP1 / Q8WWC4 / matrix AAA peptidase interacting protein 1  / reaction
 ENSG00000141385 AFG3L2 / Q9Y4W6 / AFG3 like matrix AAA peptidase subunit 2  / reaction
 ENSG00000197912 SPG7 / Q9UQ90 / SPG7, paraplegin matrix AAA peptidase subunit  / reaction
 ENSG00000215021 PHB2 / Q99623 / prohibitin 2  / reaction
 ENSG00000167085 PHB / P35232 / prohibitin  / reaction
 ENSG00000166136 NDUFB8 / O95169 / NADH:ubiquinone oxidoreductase subunit B8  / reaction
 ENSG00000036473 OTC / P00480 / ornithine carbamoyltransferase  / reaction
 ENSG00000183172 SMDT1 / Q9H4I9 / single-pass membrane protein with aspartate rich tail 1  / reaction
 ENSG00000165688 PMPCA / Q10713 / peptidase, mitochondrial processing alpha subunit  / complex






 

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