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FLASH GENE
Symbol LETM1 contributors: mct - updated : 09-05-2014
HGNC name leucine zipper-EF-hand containing transmembrane protein 1
HGNC id 6556
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal extracellular domain, with mitochondrial targeting sequences
  • a transmembrane segment (TM1),two EF-hand calcium Ca2 + binding sites
  • a C terminal leucine-zipper and phosphorylation sites
  • secondary structure an alpha helical domain forming a coiled coil
    HOMOLOGY
    interspecies ortholog to murine Letm1
    homolog to C.elegans F58G11.1b
    ortholog to yeast YOL027
    homolog to to yeast Mdm38
    Homologene
    FAMILY
  • EF-hand family of calcium-binding proteins
  • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • in the inner mitochondrial membrane
  • reside in the ER membrane
  • basic FUNCTION
  • may be involved in Ca(2+) signaling and/or homeostasis
  • playing a role in mitochondrial morphology
  • encoding factors involved in both K+ homeostasis and organelle volume control
  • regulates the volume of the mitochondrial matrix
  • binding partner for THEM4 that may play an important role in mitochondrial fragmentation via OPA1-cleavage
  • serves as an anchor protein for complex formation with the mitochondrial ribosome and regulates mitochondrial biogenesis
  • plays an essential role in mitochondrial K+ homeostasis by mediating the mitochondrial K+/H+ exchange that is of prime importance for organelle-volume control
  • acts as an anchor protein and associates with mitochondrial ribosome protein L36
  • served as an anchor protein for complex formation between mitochondria and ribosome, and regulated mitochondrial biogenesis
  • mitochondrial Ca2+/H+ antiporter that achieved mitochondrial Ca2+ sequestration at small Ca2+ increases
  • LETM1 and UCP2/3 independently contribute to two distinct, mitochondrial Ca2+ uptake pathways in intact endothelial cells
  • its activity is essential for ER Ca(2+) uptake
  • SLC8B1 but not LETM1, mediates Ca(2+) extrusion from mitochondria
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
    cell & other
    REGULATION
    Other regulated by BCS1L (stimulates the assembly of the LETM1 complex)
    ASSOCIATED DISORDERS
    corresponding disease(s) WHS , WHSCR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in most patients with the Wolf-Hirschhorn syndrome exhibiting seizures and putative contributor to the phenotype, but preserved in those without seizures
    tumoral     --over  
    significantly increased in multiple human cancer tissues compared with normals
    Susceptibility
    Variant & Polymorphism
    Candidate gene for seizures in Wolf-Hirschhorn syndrome
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerlung 
    adenovirus-mediated LETM1 may provide a useful target for designing lung tumor prevention and treatment
    ANIMAL & CELL MODELS