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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
Corresponding disease
WHS Wolf-Hirschhorn syndrome
WHSCR Wolf-Hirschhorn syndrome, mild form
Location 4p16.3      Physical location : 1.813.207 - 1.857.974
Synonym name
  • Mdm38 homolog (yeast)
  • LETM1 and EF-hand domain-containing protein 1, mitochondrial
  • DNA
    TYPE functioning gene
    STRUCTURE 44.77 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D4S166 - WHSC2 - WHSC1 - D4S3327 - LETM1 - D4S98 - FGFR3 - D4S168 - D4S96 - qter
    Physical map
    PCDH18 4q31.2-q32 protocadherin 18 LOC389255 4 similar to RSTI689 LOC152687 4p16.3 hypothetical protein LOC152687 AMBN 4q21 ameloblastin, enamel matrix protein FLJ90036 4p16.3 hypothetical protein FLJ90036 LOC391611 4 similar to Zinc finger protein 208 ZNF141 4p16.3 zinc finger protein 141 (clone pHZ-44) FLJ14297 4p16.3 hypothetical protein FLJ14297 FLJ20265 4p16.3 hypothetical protein FLJ20265 PDE6B 4p16.3 phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) ATP5I 4p16.3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e MYL5 4p16.3 myosin, light polypeptide 5, regulatory FLJ22269 4p16.3 hypothetical protein FLJ22269 RNF3 4p16.3 ring finger protein 3 CPLX1 4p16.3 complexin 1 GAK 4p16 cyclin G associated kinase MGC4618 4p16.3 hypothetical protein MGC4618 DGKQ 4p16.3 diacylglycerol kinase, theta 110kDa SLC26A1 4p16.3 solute carrier family 26 (sulfate transporter), member 1 IDUA 4p16.3 iduronidase, alpha-L- FGFRL1 4p16 fibroblast growth factor receptor-like 1 LOC285498 4p16.3 hypothetical protein LOC285498 LOC132969 4p16.3 similar to hornerin SPON2 4p16.3 spondin 2, extracellular matrix protein CTBP1 4p16 C-terminal binding protein 1 MGC21675 4p16.3 hypothetical protein MGC21675 MAEA 4p16.3 macrophage erythroblast attacher KIAA1530 4p16.3 KIAA1530 protein FLJ34443 4p16.3 hypothetical protein FLJ34443 HSPX153 4p16.3 HPX-153 homeobox LOC345375 4p16.3 similar to CG32656-PA LOC152877 4p16.3 similar to RIKEN cDNA 5430419M09 SLBP 4p16 stem-loop (histone) binding protein LOC92305 4p16.3 hypothetical protein BC009331 TACC3 4p16.3 transforming, acidic coiled-coil containing protein 3 FGFR3 4p16.3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) LETM1 4p16.3 leucine zipper-EF-hand containing transmembrane protein 1 WHSC1 4p16.3 Wolf-Hirschhorn syndrome candidate 1 WHSC2 4p16.3 Wolf-Hirschhorn syndrome candidate 2 LOC389195 4 hypothetical gene supported by BC038466; BC047038 FLJ37478 4p16.3 hypothetical protein FLJ37478 POLN 4p16.3 polymerase (DNA directed) nu MGC4701 4p16.3 hypothetical protein MGC4701 MXD4 4p16.3 MAX dimerization protein 4 KIAA1643 4p16.3 KIAA1643 protein LOC339985 4p16.3 hypothetical gene supported by BC010180 RNF4 4p16.3 ring finger protein 4 C4orf8 4p16.3 chromosome 4 open reading frame 8 TNIP2 4p16.3 TNFAIP3 interacting protein 2 LOC389196 4 LOC389196 SH3BP2 4p16.3 SH3-domain binding protein 2 ADD1 4p16.3 adducin 1 (alpha) TETRAN 4p16.3 tetracycline transporter-like protein C4orf9 4p16.3 chromosome 4 open reading frame 9 GPRK2L 4p16.3 G protein-coupled receptor kinase 2-like (Drosophila) HD 4p16.3 huntingtin (Huntington disease) LOC345222 4p16.3 hypothetical gene supported by BC043530 RGS12 4p16.3 regulator of G-protein signalling 12 HGFAC 4p16.3 HGF activator FLJ33718 4p16.3 hypothetical protein FLJ33718
    regionally located .
    RNA
    TRANSCRIPTS type messenger
    text four different transcript resulting from alternative polydenylation (Endele 1999)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 5462 - 739 - 2007 17606466
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Digestivesalivary gland   highly
    Nervousbrain    
    Reproductivefemale systembreastmammary gland highly
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Connectivebonesubchondral  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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