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FLASH GENE
Symbol UFD1 contributors: mct/npt - updated : 29-06-2020
HGNC name ubiquitin recognition factor in ER associated degradation 1
HGNC id 12520
RNA
TRANSCRIPTS type messenger
text with multiple protein isoforms (Novelli)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 1791 34.4 307 - 2018 29743725
12 - 1501 - 266 - 2018 29743725
11 - 2049 - 302 - 2018 29743725
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrinepancreas   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text liver, kidney, embryonic brain intermediate zone
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
HOMOLOGY
interspecies homolog to yeast ubiquitin fusion-degradation protein-1
Homologene
FAMILY
  • UFD1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in controlling neural crest development
  • plays a critical role in ER-associated degradation (ERAD) together with NPLOC4 and VCP
  • having a function in the ubiquitination reaction during ERAD, and playing a critical role in cholesterol metabolism
  • enhances the E3 activity of AMFR, accelerates the ubiquitination and degradation of reductase, and eventually promotes receptor-mediated uptake of low-density lipoprotein (Cao 2007)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • the VCP-UFD1L-NPLOC4 complex recognizes polyubiquitin chains and transfers the ubiquitinated proteins to the proteasome
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NPLOC4
  • directly interacts with AMFR and functions as a cofactor (enhances the E3 activity of AMFR, accelerates the ubiquitination and degradation of reductase, and eventually promotes receptor-mediated uptake of low-density lipoprotein)
  • UBXN7 may have a cooperative effect on VCP interaction with UFD1L
  • cell & other
    REGULATION
    activated by HAND2
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL22Q11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in DiGeorge/velocardiofacial syndrome
    constitutional     --low  
    in Bicuspid aortic valve (BAV)
    tumoral     --over  
    in adrenocortical carcinomas
    Susceptibility to schizophrenia in Chinese
    Variant & Polymorphism
    Candidate gene del22q11 (DEL22Q11)
    Marker
    Therapy target
    ANIMAL & CELL MODELS