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FLASH GENE
Symbol HIF1AN contributors: mct - updated : 08-09-2012
HGNC name hypoxia-inducible factor 1, alpha subunit inhibitor
HGNC id 17113
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus
basic FUNCTION
  • asparaginyl hydroxylase enzyme regulating the transcriptional activity of hypoxia-inducible factor
  • regulates not only HIF activity, but also the NOTCH signaling output and, in addition, plays a role in how NOTCH signaling modulates the hypoxic response
  • role as a modulator of the growth of human tumor cells
  • its activity is essential for tumor growth through the suppression of the TP53-CDKN1A axis, the major barrier that prevents cancer progression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component HIF1AN forms a complex with APBA3, and these two factors co-localize within the perinuclear region
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NOTCH is likely to become efficiently hydroxylated by HIF1AN even under relatively severe hypoxic conditions, where HIF1A hydroxylation would be reduced
  • inhibits the activity of HIF1A by preventing HIF1alpha binding to EP300 via modification of the Asn(803) residue
  • functions as a cytosol retention factor of BAX, blocking BAXtranslocation from cytosol to mitochondria in response to apoptotic stimuli
  • is an UBE3A-interacting protein
  • KDM8 participates in roles independent of histone demethylation and may function as a protein hydroxylase given its structural homology with HIF1AN and JMJD6
  • cell & other
    REGULATION
    Other ubiquitinated by SIAH1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    silencing of HIF1AN significantly increased both the total and phosphorylated forms of the tumor suppressor TP53, leading to an increase in its direct target CDKN1A
    tumoral     --other  
    expressed in the majority of invasive breast carcinomas and shows distinct subcellular localization patterns
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS