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FLASH GENE
Symbol JOSD1 contributors: mct - updated : 26-06-2013
HGNC name Josephin domain containing 1
HGNC id 28953
Location 22q13.1      Physical location : 39.081.548 - 39.096.459
Synonym name hypothetical protein KIAA0063
Synonym symbol(s) KIAA0063, dJ508I15.2
EC.number 3.4.19.12
DNA
TYPE functioning gene
STRUCTURE 14.91 kb     5 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 3435 - 202 - 2013 23625928
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland    
Endocrineadrenal gland    
Nervousbrain    
Reproductivefemale systemuteruscervix  
Skin/Tegumentskin    
Urinarybladder    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectiveadipose   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text umbilical cord
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one Josephin domain
  • HOMOLOGY
    interspecies homolog to murine Josd1 (97.0pc)
    homolog to rattus Josd1 (97.0pc)
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • preferentially localizes to the plasma membrane, particularly when ubiquitinated
  • basic FUNCTION
  • cleaves ubiquitin chains only after it is monoubiquitinated, a form of posttranslational-dependent regulation shared with ATXN3
  • could potentially participate in membrane-dependent events such as cell motility and endocytosis
  • membrane-associated deubiquitinating enzyme whose activity is regulated by ubiquitination, helps regulate membrane dynamics, cell motility, and endocytosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activate NR5A1 gene expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS