Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NDUFAF4 contributors: mct/npt - updated : 22-08-2009
HGNC name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4
HGNC id 21034
Corresponding disease
ECMM encephalomyopathy with cardiomyopathy mitochondrial
Location 6q16.1      Physical location : 97.337.187 - 97.345.767
Synonym name
  • hormone-regulated proliferation-associated 20 kDa protein
  • chromosome 6 open reading frame 66
  • complex I assembly factor
  • Synonym symbol(s) My013, HSPC125, C6orf66, HRPAP20, bA22L21.1
    DNA
    TYPE functioning gene
    STRUCTURE 6.87 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1458 - 175 - Tozlu-Kara (2007)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Nervousbrain   highly
    Reproductivefemale systemuterus  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • HRPAP20 family
  • CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text colocalize with NDUFAF3 in the mitochondrial inner membrane (Saada 2009)
    basic FUNCTION
  • may be an assembly factor of complex I that promote breast cancer cell invasiveness
  • essential for the normal function of the mitochondrial respiratory chain
  • may be an important regulator of breast tumor cell invasion by a CALM1-mediated mechanism that leads to increased MMP9 secretion (Karp 2007)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bound to calmodulin (CALM1) via a conserved CaM-binding motif (Karp 2007)
  • predominantly interact with complex I core subunits NDUFS2 and NDUFS3 (Saada 2009)
  • bound to NDUFAF3, recruits a nuclear-DNA-encoded early assembly intermediate that contains at least NDUFS2 and NDUFS3 at the mitochondrial inner membrane (Saada 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ECMM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    dysregulation of expression in tumor cells may contribute to the observed phenotypic changes associated with breast cancer progression (Karp 2007)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS