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FLASH GENE
Symbol UFSP2 contributors: mct - updated : 21-09-2011
HGNC name UFM1-specific peptidase 2
HGNC id 25640
Corresponding disease
BHD premature degenerative osteoarthropathy of the hip joints, Beukes type
Location 4q35.1      Physical location : 186.320.693 - 186.347.139
Synonym symbol(s) C4orf20, FLJ11200
EC.number 3.4.22.-
DNA
TYPE functioning gene
STRUCTURE 26.45 kb     2 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2379 - 469 - 2007 17182609
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal domain with a unique structure and playing a role in the recognition of its cellular substrate C20orf116, and a portion of this domain in the cytoplasm appeared as speckles, raising the possibility that the N-terminal domain plays a role in the localization of UFSP2 in subcellular organelles
  • a catalytic domain with a papain-like fold
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text
  • recruitment of UFSP2 to the endoplasmic reticulum, where C20orf116 predominantly localizes
    • basic FUNCTION
  • novel thiol proteases that specifically process the C terminus of UFM1
  • responsible for the removal of UFM1 from native intracellular conjugates
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interaction with C20orf116
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BHD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS