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FLASH GENE
Symbol PTRHD1 contributors: mct - updated : 30-10-2017
HGNC name peptidyl-tRNA hydrolase domain containing 1
HGNC id 33782
Corresponding disease
PARKID parkinsonism with intellectual disability
Location 2p23.3      Physical location : -
Synonym symbol(s) C2orf79
EC.number 3.1.1.29
DNA
TYPE functioning gene
STRUCTURE 3.12 kb     2 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 602 - 140 - 2016 27235175
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a PTH2 domain, that is a ubiquitin-like domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • UBL domain-binding protein that is known to participate in the ubiquitin-proteasome pathway and has been shown to suppress ubiquitin-mediated degradation
  • participate in the ubiquitin-proteasome pathway (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PARKID
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS