Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HEPH contributors: - updated : 27-08-2007
HGNC name hephaestin
HGNC id 4866
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