Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol TIMMDC1 contributors: mct - updated : 23-03-2018
HGNC name translocase of inner mitochondrial membrane domain containing 1
HGNC id 1321
Location 3q13.33      Physical location : -
Synonym name
  • M5-14 protein
  • chromosome 3 open reading frame 1
  • transmembrane protein C3orf1
    • Synonym symbol(s) C3orf1
    DNA
    TYPE functioning gene
    STRUCTURE 25.76 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1596 - 285 - 2014 24344204
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four predicted transmembrane domains (TIMMDC1 is related structurally to the TIMM17A-TIMM22-TIMM23 family of proteins)
    • HOMOLOGY
    interspecies homolog to Drosophila RP140-upstream
    Homologene
    FAMILY
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus,nucleoplasm
    text
  • localized to the mitochondrial inner membrane but did not associate with components of the inner membrane translocon (TIMM17A or TIMM23)
    • basic FUNCTION
  • acting as a protein transporter
  • characteristics of TIMMDC1, of another assembly factor, TMEM126B, and of NDUFA11 suggest that they all participate in constructing the membrane arm of complex I
  • role for TIMMDC1 in assembly of membrane-embedded and soluble arms of the complex
  • functions likely in some way with the mitochondrial inner membrane translocon
  • important role for TIMMDC1 in Complex 1 function and mitochondrial homeostasis
  • is critical for mitochondrial function, migration, and proliferation in 95D lung carcinoma cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • reciprocally associate with multiple components of the ECSIT-TMEM126B-ACAD9-NDUFAF1 assembly factor complex (MCIA complex), as well as subunits of the soluble and matrix arms
  • associates tightly with components of the MCIA complex, as well as core components of Complex 1
  • C9orf72 specifically stabilizes translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), a crucial factor for the assembly of OXPHOS complex I
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerlung 
    may be a viable treatment target for lung carcinoma
    ANIMAL & CELL MODELS