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FLASH GENE
Symbol HEPHL1 contributors: mct - updated : 15-05-2024
HGNC name hephaestin-like 1
HGNC id 30477
Corresponding disease
HJDD abnormal hair, joint laxity, and developmental delay
Location 11q21      Physical location : 93.754.377 - 93.847.374
Synonym name
  • zyklopen
  • ferroxidase HEPHL1
    • Synonym symbol(s) HJDD, ZP, DKFZp686F22190
    EC.number 1.16.3.1
    DNA
    TYPE functioning gene
    STRUCTURE 92.85 kb     18 Exon(s)
    MAPPING cloned N linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 5809 - 1159 - 2019 31125343
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Reproductivefemale systemplacenta  moderately Homo sapiens
     male systemtestis  moderately
    Respiratorylung   highly
    Skin/Tegumentskin   predominantly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductiveepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to rattus Panx1
    Homologene
    FAMILY
    CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • has ferroxidase activity
  • is not essential for the efficient transfer of iron to the fetus but may play a role in placental development
  • HMOX1, SLC40A1 and HEPHL1 are constitutively expressed in terminally differentiated keratinocytes and allow the recycling of iron from heme prior to the cornification of keratinocytes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • ion transport
    • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Cu2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HJDD
    Susceptibility to risk of advanced colorectal adenoma and cancer
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS