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FLASH GENE
Symbol IMMT contributors: mct - updated : 21-11-2017
HGNC name inner membrane protein, mitochondrial (mitofilin)
HGNC id 6047
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiens
Digestiveesophagus   highly
 mouthtongue  highly
Reproductivemale systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Muscularstriatumcardiac   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ATP binding domain at the N terminus
  • long alpha helical domain forming coiled coil structure
  • secondary structure alpha helix
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text
  • mitochondrial inner membrane protein
  • basic FUNCTION
  • controls mitochondrial cristae morphology
  • critical organizer of the mitochondrial cristae morphology and thus indispensable for normal mitochondrial function
  • mediator of the mitochondrial function of DISC1
  • mitofilin distinctly functions in cristae remodeling and controls cytochrome c release during apoptosis
  • integrating role of MINOS subunits (IMMT, MINOS1, and CHCHD3) in the structural organization of the organelle in mitochondria
  • mitochondria protein, related to cardiac hypertrophy
  • plays a central role in mitochondrial morphology
  • unrecognized important role of IMMT in mtDNA transcription
  • has a critical role in the MICOS assembly, which determines the mitochondrial morphology and mitochondrial DNA (mtDNA) organization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • IMMT and CHCHD6, which physically interact, are two components of the MICOS
  • most important subunits of the MIB complex in human mitochondria are IMMT, CHCHD3 and an outer membrane component SAMM50
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • association with six other proteins, metaxins 1, and 2, CHCHD3, CHCHD6 and DNAJC11 SAMM50 (putative role in protein import related to maintenance of mitochondrial structure)
  • PARP1 interactor (promotes and is required for PARP1 mitochondrial localization)
  • interaction between PINK1 and Mitofilin
  • functional link between DISC1 and Mitofilin for the normal mitochondrial function
  • MINOS1 interacts with TOMM40 and SAMM50 independently and the core subunit IMMT is involved in biogenesis of outer membrane beta-barrel proteins
  • APOOL physically interacts with several subunits of the MINOS complex, namely IMMT, MINOS1, and SAMM50
  • interacts with mitochondrial transcription factors TFAM and TFB2M
  • SLC25A46 interacts with the inner membrane remodeling protein mitofilin (IMMT)
  • direct interaction between IMMT and CHCHD3, which is crucial for their stabilization in mammals
  • IMMT homeostasis regulated by YME1L1 is central to the MICOS assembly, which is required for maintenance of mitochondrial morphology and organization of mtDNA nucleoids
  • IMMT and CHCHD6 directly interacted with SAMM50
  • IMMT is a PRKACA substrate
  • transiently interacts with PINK1, and IMMT downregulation leads to a reduction in PINK1 and mislocalization of PRKN
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the hearts of patients with hypertrophic cardiomyopathy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS