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FLASH GENE
Symbol ELAC2 contributors: mct/npt - updated : 02-10-2013
HGNC name elaC homolog 2 (E. coli)
HGNC id 14198
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ATP/GTP binding site motif A
  • a histidine motif in the middle portion domain constituting a metal dependent hydrolase
  • HOMOLOGY
    interspecies homolog to E.coli Elac2
    intraspecies homolog to SNM1,CPSF73
    Homologene
    FAMILY
  • metallobetalactamase superfamily
  • RNase Z family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • endonucleolytic cleavage of RNA, removing extra 3' nucleotides from tRNA precursor, generating 3'
  • termini of tRNAs
  • RNase Z(L) that is the enzyme involved in both, nuclear and mitochondrial tRNA 3 prime end maturation
  • functions as a tRNase Z in human mitochondria, suggesting that mt-tRNase Z preferentially cleaves molecules already processed by the proteinaceous mtRNase P
  • having an important transcriptional scaffold function in TGF-beta/Smad signaling mediated growth arrest
  • encodes a long form of RNase Z
  • role of ELAC2 in mt-tRNA processing
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • bind two zinc ions per molecule as cofactor.
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMTND8
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    by somatic mutations in rare prostatic cancer
    Susceptibility to prostate cancer (in caucasian) (minor role)
    Variant & Polymorphism SNP , insertion/deletion
  • common SNPs and haplotypes associated with risk of aggressive prostate cancer
  • major risk haplotype C-G-G-C-G of five SNPs within ELAC2 in Prostate cancer of African Americans (Beuten 2010)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS