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FLASH GENE
Symbol YME1L1 contributors: mct - updated : 23-08-2017
HGNC name YME1-like 1 (S. cerevisiae)
HGNC id 12843
DNA
TYPE functioning gene
STRUCTURE 44.69 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif
MAPPING cloned Y linked N status confirmed
Map pter - D10S199 - CREM - D10S1780 - D10S578 - YME1L1 - RET - CXCL12 - D10S1669 - D10S604 - cen
Authors Gene Map (98)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 4403 - 773 - 2016 2692359
- - 2584 - 740 - 2016 2692359
19 - 4232 - 716 - 2016 2692359
18 - 4133 - 683 - 2016 2692359
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Lymphoid/Immunethymus   highly
Reproductivemale systemtestis  highly
Respiratoryrespiratory tracttrachea  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac highly
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • purine/pyrimidine phosphoribosyl transferase signal peptide, transmembrane region
  • integral membrane protein that exposes its C-terminus to the intermembrane space
  • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae Yme1A
    intraspecies homolog to paraplegin
    Homologene
    FAMILY AAA protein family, and peptidase M41 family
    CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text
  • 24is an AAA protease that is embedded in the mitochondrial inner membrane with its catalytic domain facing the mitochondrial inner-membrane space
  • basic FUNCTION
  • putative ATP-dependent protease involved in the degradation of unassembled COX2 subunit
  • putative proteolytic and chaperone-like activities at the inner mitochondrial membrane
  • plays a phylogenetically conserved role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies
  • involved in peptide generation in the intermembrane space and led to the induction of nuclear genes with functions in mitochondrial gene expression and the biogenesis of the respiratory chain
  • novel role for YME1L1 in the proteolytic regulation of respiratory chain biogenesis
  • is a stress-sensitive mitochondrial protease that is rapidly degraded in response to acute oxidative stress
  • stress-induced YME1L1 degradation is a biologic process that attenuates protective regulation of mitochondrial proteostasis and promotes cellular death in response to oxidative stress
  • YME1L1 and OMA1 are critical regulators of essential mitochondrial functions, including inner membrane proteostasis maintenance and mitochondrial dynamics
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS locomotion
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    binds 1 zinc ion
    protein
  • interacting with PARL and the COOH-terminus of Presenilin-1 and -2 (PSEN1 and PSEN2)
  • a subset of OPA1 isoforms is constitutively cleaved by YME1L1
  • IMMT homeostasis regulated by YME1L1 is central to the MICOS assembly, which is required for maintenance of mitochondrial morphology and organization of mtDNA nucleoids
  • differential degradation of YME1L1 and OMA1 alters their proteolytic processing of the dynamin-like GTPase OPA1, a critical regulator of mitochondrial inner membrane morphology, which influences the recovery of tubular mitochondria following membrane-depolarization-induced fragmentation
  • while ROMO1 is dispensable for general protein import along the presequence pathway, it participates in the dynamics of TIMM21 during respiratory chain biogenesis and is specifically required for import of YME1L1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OPA11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS