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FLASH GENE
Symbol PHYHIP contributors: mct - updated : 13-10-2020
HGNC name phytanoyl-CoA hydroxylase interacting protein
HGNC id 16865
DNA
TYPE functioning gene
SPECIAL FEATURE
text
  • PIWIL2 alternative promoter in exon 7 also functions as an enhancer for gene PHYHIP located 60Kb upstream
  • STRUCTURE 12.40 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned   linked   status
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1891 - 330 - 2005 15694837
    5 - 2976 - 330 - 2005 15694837
    7 - 2013 - 330 - 2005 15694837
    6 - 3098 - 330 - 2005 15694837
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • play likely a role in the development of neurological abnormalities observed in Down syndrome patients
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PIWIL2 alternative promoter in exon 7 is able to function as an enhancer only for PHYHIP promoter
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS