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FLASH GENE
Symbol IMMT contributors: mct - updated : 21-11-2017
HGNC name inner membrane protein, mitochondrial (mitofilin)
HGNC id 6047
Location 2p11.2      Physical location : 86.371.055 - 86.422.893
Genatlas name heart muscle protein
Synonym name
  • mitofilin
  • proliferation-inducing gene 4
  • MICOS complex subunit MIC60
  • Synonym symbol(s) HMP, P87, P89, P87/89, MINOS2, Mic60, PIG4, PIG52, MGC111146, DKFZp779P1653
    DNA
    TYPE functioning gene
    STRUCTURE 51.84 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    KCMF1 2p11.2 potassium channel modulatory factor 1 LOC391388 2 hypothetical gene supported by AJ238095; NM_014463 TCF7L1 2p11.2 transcription factor 7-like 1 (T-cell specific, HMG-box) LOC388966 2 similar to hypothetical protein FLJ20296 TGOLN2 2p11.2 trans-golgi network protein 2 LOC388967 2 LOC388967 LOC388968 2 similar to Phosphatidylethanolamine-binding protein (PEBP) (Prostatic binding protein) (HCNPpp) (Neuropolypeptide h3) (Raf kinase inhibitor protein) (RKIP) FLJ20296 2p11.2 hypothetical protein FLJ20296 FLJ21977 2p11.2 hypothetical protein FLJ21977 CAPG 2cen-q24 capping protein (actin filament), gelsolin-like LOC284948 2p11.2 similar to B-cell linker; B cell linker protein MAT2A 2p11.2 methionine adenosyltransferase II, alpha GGCX 2p12 gamma-glutamyl carboxylase VAMP8 2p11.2-p11.1 vesicle-associated membrane protein 8 (endobrevin) VAMP5 2p11.2 vesicle-associated membrane protein 5 (myobrevin) LOC51255 2p11.2 hypothetical protein LOC51255 FLJ90024 2p11.2 fasting-inducible integral membrane protein TM6P1 LOC388969 2 LOC388969 USP39 2p11.2 ubiquitin specific protease 39 SFTPB 2p12-p11.2 surfactant, pulmonary-associated protein B GNLY 2p12-q11 granulysin HATH6 SIAT9 2p11.2 sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase) POLR1A 2p11.2 polymerase (RNA) 1 polypeptide A, 194kDa FLJ20758 2p11.2 FLJ20758 protein IMMT 2p11.2 inner membrane protein, mitochondrial (mitofilin) MRPL35 2p11.2 mitochondrial ribosomal protein L35 FLJ13110 2p11.2 hypothetical protein FLJ13110 JMJD1 2p11.2 jumonji domain containing 1 NEDF 2p24.3-p24.1 neuroendocrine differentiation factor RNF103 2p11.2 ring finger protein 103 FLJ13910 2p11.2 hypothetical protein FLJ13910 CD8A 2p12 CD8 antigen, alpha polypeptide (p32) CD8B1 2p12 CD8 antigen, beta polypeptide 1 (p37) LOC388970 2 similar to anaphase-promoting complex 1 (meiotic checkpoint regulator) PLGL 2p11-q11 plasminogen-like LOC388971 2 LOC388971 LOC285069 2p11.1 hypothetical protein LOC285069
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing - 88 ? - 1997 9168817
    - splicing - 90 ? - 1997 9168817
    15 - 3018 83.7 758 - 2007 17624330
    15 - 3015 83.5 757 - 2007 17624330
    15 - 2985 82.6 747 - 2007 17624330
    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
  • 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