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FLASH GENE
Symbol DALRD3 contributors: mct - updated : 25-09-2020
HGNC name DALR anticodon binding domain containing 3
HGNC id 25536
Corresponding disease
EIEE86 epileptic encephalopathy, early infantile, 85
Location 3p21.31      Physical location : 49.052.434 - 49.058.467
Synonym symbol(s) FLJ10496
DNA
TYPE functioning gene
STRUCTURE 6.11 kb     13 Exon(s)
MAPPING cloned Y linked N status confirmed
Map pter - D3S3560 - D3S1581 - DALRD3 - D3S3629 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 splicing 1748 59.2 543 - 2020 32427860
12 splicing 2227 41.5 376 - 2020 32427860
  • including an alternate 5' exon
  • using another translation start codon than variant 1
  • 12 - 1722 - 516 - 2020 32427860
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus    
    Reproductivefemale systemuteruscervix  
     male systemtestis   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a C-terminal sequence homologous to the “DALR” anticodon-binding domain found in arginyl tRNA synthetases from Archaea to Eukaryotes
  • HOMOLOGY
    interspecies homolog to rattus Dalrd3 (78.3 pc)
    homolog to murine Dalrd3 (78.3 pc)
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • acting as an arginine-tRNA ligase
  • unanticipated role for the DALRD3 protein in the recognition of specific arginine tRNAs for METTL2-catalyzed m3C formation, implicating the 3-methylcytosine (m3C) modification in proper neurological function
  • DALRD3 is required for efficient m3C formation in arginine tRNAs
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism other
    signaling
    arginyl-tRNA aminoacylation
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • DALRD3 is a tRNA-binding protein that interacts with the methyltransferase METTL2A and METTL2B (METTL2A forms a complex with DALR anticodon binding domain containing 3 (DALRD3) protein to recognize particular arginine tRNAs destined for m3C modification)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE86
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS