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FLASH GENE
Symbol HEPH contributors: - updated : 27-08-2007
HGNC name hephaestin
HGNC id 4866
Location Xq11-q12      Physical location : 65.382.432 - 65.487.228
Genatlas name putative multicopper ferroxidase
Synonym name
  • cDNA sequence,expressed in brain, 79kDa, related to ceruloplasmin precursor
  • Synonym symbol(s) KIAA0698, RP13-238N7.1, CPL
    DNA
    TYPE functioning gene
    STRUCTURE 104.00 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - DXZ1 - DXS7485 - DXS7507 - DXS1312 - DXS900 - DXS136 - DXS8026 - MSN - DXS1213 - HEPH - DXS1194 - DXS1159 - DXS1 - DXS1161 - DXS1412 - AR - DXS1430 - OPHN1 - DXS2493 - DXS7459 - DXS159 - DXS1111 - EFNB1 - DXS981 - DXS1125 - qter
    Authors Schueler (00)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 4279 - 1158 - Griffiths
    - - 4231 - 891 - Griffiths
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine    
     intestinelarge intestinecolon highly
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    putative C terminal transmembrane domain with a ceruloplamin-like domain
    HOMOLOGY
    interspecies homolog to murine Heph
    homolog to sla mutant
    intraspecies homolog to ceruloplasmin precursor
    Homologene
    FAMILY cerruloplasmin family
    CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • membrane-bound protein responsible for transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system
  • implicated in duodenal iron export
  • able to catalyze formation of diferric transferrin from Fe(II) and apotransferrin
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism
    signaling
    transport of iron from mucosal cell to the circulation
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein co-operate with divalent-metal-transporter-1 (SLC11A2) and SLC40A1, respectively, to transfer iron from the duodenal lumen to the circulation
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS