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FLASH GENE
Symbol NDUFB11 contributors: mct - updated : 17-04-2015
HGNC name NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
HGNC id 20372
Corresponding disease
MLS3 microphthalmia linear skin defects 3
Location Xp11.3      Physical location : 47.001.615 - 47.004.609
Synonym name
  • neuronal protein 17.3
  • Synonym symbol(s) CTD-2522E6.3, ESSS, FLJ20494, MGC111182, NP17.3, Np15, P17.3
    EC.number 1.6.5.3
    DNA
    TYPE functioning gene
    STRUCTURE 2.99 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 splicing 1108 17.3 153 - 2013 23246602
    3 - 1138 - 163 - 2013 23246602
    insertion of 10 AA at position 111 of the short isoform predicts a dramatic alteration of the secondary structure
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineparathyroid   highly
    Lymphoid/Immunelymph node   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    one potential transmembrane helix
    HOMOLOGY
    interspecies homolog to subunit of bovine heart mitochondrial complex I
    Homologene
    FAMILY complex I NDUFB11 subunit family
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • involved in the transfer of electrons from NADH to the respiratory chain
  • may be involved in the growth, maintenance, and survival of neurons
  • post-transcriptional regulation of the NDUFB11 gene can be involved in the programmed cell death process
  • indispensable for assembly of the complexI (cI) membrane arm, for maturation of the cI holocomplex, and for cI-dependent mitochondrial respiration
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • level of the two isoforms of NDUFB11 is regulated by three DGGGD ESS elements located in exon 2 which can bind the HNRNPH1 protein
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MLS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS