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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
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