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FLASH GENE
Symbol CISD1 contributors: mct - updated : 02-12-2014
HGNC name CDGSH iron sulfur domain 1
HGNC id 30880
Location 10q21.1      Physical location : 60.028.894 - 60.049.018
Synonym name
  • uncharacterized hematopoietic stem/progenitor cells protein MDS029
  • zinc finger CDGSH-type domain 1
  • mitochondria and the presence of the amino acid sequence Asn-Glu-Glu-Thr (NEET) near the C terminus
  • chromosome 10 open reading frame 70
  • Synonym symbol(s) C10orf70, MDS029, MGC14684, ZCD1, mitoNEET, mNT
    DNA
    TYPE pseudogene
    STRUCTURE 21.89 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2115 - 108 - Taminelli (2008)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-terminal anchor sequence tethers the protein to the outer membrane with the CDGSH domain oriented toward the cytoplasm
  • CDGSH domain harboring a redox-sensitive 2Fe-2S cluster that is surprisingly pH-labile
  • HOMOLOGY
    Homologene
    FAMILY NEET proteins family
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    text integral membrane protein
    basic FUNCTION
  • iron-containing outer mitochondrial membrane protein that regulates oxidative capacity
  • important iron-containing protein involved in the control of maximal mitochondrial respiratory rates
  • playing a role in regulation of electron transport and oxidative phosphorylation
  • role for CISD1, CISD2 in promoting mitochondrial biogenesis and autophagy resistance in cancer cells
  • likely role for CISD1 in [2Fe-2S] and/or iron transfer to acceptor proteins (pMID: 21788481)
  • inhibits mitochondrial iron transport into the matrix and, because iron is a rate-limiting component for electron transport, lowers the rate of beta-oxidation
  • mediate iron and reactive oxygen homeostasis in mitochondria
  • physiological role for CISD1, CISD2 in promoting mitochondrial function in cancer cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • NADPH can regulate both CISD1 [2Fe-2S] cluster levels in the cell as well as the ability of the protein to transfer [2Fe-2S] clusters to cytosolic or mitochondrial acceptors
  • protein
  • binds a Redox-active 2Fe-2S Cluster
  • cellular target of the antidiabetic drug pioglitazone
  • CISD1 linked to activation of the insulin regulator GLUD1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in cystic fibrosis cells, suggesting a possible mitochondrial failure in CF
    constitutional     --over  
    enhances lipid uptake and storage, leading to an expansion of the mass of adipose tissue
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    promising mitochondrial targets for cancer therapy
    ANIMAL & CELL MODELS