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FLASH GENE
Symbol YME1L1 contributors: mct - updated : 23-08-2017
HGNC name YME1-like 1 (S. cerevisiae)
HGNC id 12843
Corresponding disease
OPA11 optic atrophy 11
Location 10p12.1      Physical location : 27.399.384 - 27.443.321
Genatlas name paraplegin-related gene
Synonym name
  • ATP-dependent metalloprotease FtsH1 homolog
  • meg-4
  • presenilin-associated metalloprotease
  • Synonym symbol(s) FISH, FTSH, YME1L, MEG4, PAMP, OPA11
    EC.number 3.4.24.-
    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)
    Physical map
    GAD2 10p11.23 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) APBB1IP 10p12.2 amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein LOC387643 10 similar to amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein; proline-rich protein 73; Rap1-interacting adaptor molecule TPT 10p12.2-p12.1 trans-prenyltransferase SSH3BP1 10p11.2 spectrin SH3 domain binding protein 1 LOC387644 10 similar to amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein; proline-rich protein 73; Rap1-interacting adaptor molecule LOC338616 10p12.1 hypothetical gene supported by AK093172 LOC389944 10 similar to hypothetical protein KIAA1074 10pter-q22.1 KIAA1074 protein YME1L1 10p YME1-like 1 (S. cerevisiae) FLJ14813 10p12.1 hypothetical protein FLJ14813 ACBD5 10p12.1 acyl-Coenzyme A binding domain containing 5 LOC387645 10 similar to KIAA0563 protein LOC387646 10 similar to Hypothetical protein KIAA0563 LOC347806 10p12.1 similar to hypothetical protein FLJ10817 LOC340913 10p12.1 similar to breast cancer antigen NY-BR-1 LOC338617 10p12.1 similar to HSPC132 FLJ44037 10p12.1 FLJ44037 protein RAB18 10p12.1 RAB18, member RAS oncogene family C10orf48 10p12.1 chromosome 10 open reading frame 48 FLJ10817 MRPS21P5 10p12.1 mitochondrial ribosomal protein S21 pseudogene 5 FLJ32798
    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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OPA11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS