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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
Corresponding disease
DEL22Q11 chromosome 22q11.2 microdeletion syndrome
Location 22q11.21      Physical location : -
Synonym name
  • ubiquitin fusion degradation 1-like
  • UB fusion protein 1
  • ubiquitin fusion degradation protein 1 homolog
  • Synonym symbol(s) UFD1L
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head, opposite orientation
    text head to head with CDC45L
    STRUCTURE 29.28 kb     12 Exon(s)
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure bidirectional transcriptional control region between UFD1L and CDC45L
    MAPPING cloned Y linked N status provisional
    Map cen - UFD1L - HIRA - DVL1L1 - qter
    Authors Pizzuti (97)
    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