Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HIF1AN contributors: mct - updated : 08-09-2012
HGNC name hypoxia-inducible factor 1, alpha subunit inhibitor
HGNC id 17113
Location 10q24.31      Physical location : 102.295.640 - 102.313.680
Synonym name
  • factor inhibiting HIF1
  • aspargynyl-hydroxylase factor inhibiting HIF-1alpha
    • Synonym symbol(s) FIH1, FLJ20615, FLJ22027
    EC.number 1.14.11.16/ 1.14.11.30
    DNA
    TYPE functioning gene
    STRUCTURE 18.04 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 6928 - 349 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinepancreas    
    Nervousbrainbasal nucleistriatum   Homo sapiens
     brainbasal nucleiputamen   Homo sapiens
     brainforebraincerebral cortex   Homo sapiens
     braindiencephalonthalamus highly Homo sapiens
     brainhindbraincerebellum   Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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