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FLASH GENE
Symbol PMPCB contributors: mct - updated : 16-05-2018
HGNC name peptidase (mitochondrial processing) beta
HGNC id 9119
DNA
TYPE functioning gene
STRUCTURE 32.48 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status inconsistent : contradictory evidence
Map cen - D7S479 - ASNS - AZGP1 - D7S651 - D7S518 - PMPCB - D7S658 - D7S2545 - qter
Authors Gene Map (98)
Physical map
APS 7q22 adaptor protein with pleckstrin homology and src homology 2 domains LOC392083 7 similar to Cohesin subunit SA-3 (Stromal antigen 3) (SCC3 homolog 3) LOC389542 7 similar to Williams-Beuren syndrome critical region protein 19 LOC389543 7 similar to postmeiotic segregation increased 2-like 9 LOC392084 7 similar to Cohesin subunit SA-3 (Stromal antigen 3) (SCC3 homolog 3) PRKRIP1 7q22.1 PRKR interacting protein 1 (IL11 inducible) C7orf19 7q22.1 chromosome 7 open reading frame 19 FLJ20013 7q22.1 hypothetical protein FLJ20013 DKFZp434K1815 7q22.1 hypothetical protein DKFZp434K1815 POLR2J 7q11.2 polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa HSPC047 7q22.1 HSPC047 protein RASA4 7q22-q31.1 RAS p21 protein activator 4 POLR2J2 7q11.22 polymerase (RNA) II (DNA directed) polypeptide J, related gene MGC35361 7q22.1 hypothetical protein MGC35361 MGC21636 LRRC17 7q22 leucine rich repeat containing 17 SVH 7q22.1 SVH protein NAPE-PLD 7q22.1 N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D LOC392085 7 similar to 60S ribosomal protein L23a FLJ36166 7q22.1 hypothetical protein FLJ36166 LOC392086 7 similar to Putative S100 calcium-binding protein A11 pseudogene LOC389544 7 similar to hypothetical protein FLJ32949 PMPCB 7q21.3-q22.1 peptidase (mitochondrial processing) beta ZRF1 7q22.1-q22.3 zuotin related factor 1 PSMC2 7q22.1-q22.3 proteasome (prosome, macropain) 26S subunit, ATPase, 2 PRES 7q22.1 prestin (motor protein) RELN 7q22 reelin ORC5L 7q22 origin recognition complex, subunit 5-like (yeast) LOC392087 7 similar to lipoma HMGIC fusion partner-like 3
regionally located in a segment commonly deleted in myeloid malignancies
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 3939 - 489 - 2009 19580345
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately
Digestiveintestinelarge intestinecolon moderately
 liver   moderately
 stomach   highly
Lymphoid/Immunelymph node   moderately
 thymus   predominantly
Reproductivefemale systemuterus  moderately
 female systemplacenta  moderately
 male systemprostate  moderately
 male systemtestis  moderately
Respiratorylung   moderately
Urinarykidney   highly
Visualeye   moderately
cell lineage
cell lines
fluid/secretion blood
at STAGE
physiological period
cell cycle     cell cycle, M
Text M phase phosphoprotein
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
zinc binding region
conjugated PhosphoP
mono polymer heteromer , dimer
HOMOLOGY
Homologene
FAMILY
  • insulinase family
  • peptidase M16 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • acting as a mitochondrial processing peptidase
  • catalytic subunit cleaving presequences from mitochondrial protein precursors
  • catalytic subunit of the essential mitochondrial processing protease (MPP), which is required for maturation of the majority of mitochondrial precursor proteins
  • CELLULAR PROCESS protein, post translation
    PHYSIOLOGICAL PROCESS
    text involved in transit peptide
    PATHWAY
    metabolism
    signaling
    a component heterodimer of alpha and beta subunits
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+ (per subunit)
  • protein
  • mitochondrial processing peptidase PMPCB generates an intermediate form of AFG3L2 that is matured autocatalytically
  • new role for PMPCB in PINK1 import and mitochondrial quality control via the PINK1–Parkin pathway
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMDS6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS