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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)
    Physical map
    HNRPDP Xq12 heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene FLJ39827 Xq11.2 hypothetical protein FLJ39827 ASB12 Xq11.2 ankyrin repeat and SOCS box-containing 12 MTMR8 Xq11.2 myotubularin related protein 8 LOC392481 X similar to SHC transforming protein LOC392482 X similar to protein kinase C inhibitor KCIP-1 isoform delta - sheep (fragment) LOC139281 Xq11.2 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 LOC392483 X similar to hypothetical protein HCA127 Xq12 hepatocellular carcinoma-associated antigen 127 LOC389863 X hypothetical gene supported by BC000228; NM_005077 LOC286449 Xq12 hypothetical gene supported by NM_005077; BC010100 LOC340554 Xq12 similar to KIAA1726 protein FLJ12525 Xq12-q13 hypothetical protein FLJ12525 FKSG43 Xq12 FKSG43 MSN Xq11.21-q12.1 moesin LOC392484 X similar to Nanog homeobox; homeobox transcription factor Nanog LOC347421 Xq12 similar to hypothetical protein FLJ40432 LOC389864 X hypothetical gene supported by AK091520; BC006550; BC007435; NM_002139 LOC389865 X LOC389865 Z39IG Xp11-q11 Homo sapiens Ig superfamily protein (Z39IG), mRNA. LOC392485 X similar to CG13379-PA LOC139272 Xq12 similar to eukaryotic initiation factor 4B HEPH Xq11-q12 hephaestin LOC392486 X similar to Probable G protein-coupled receptor GPR83 precursor LOC139270 Xq12 similar to Pyruvate kinase, M1 isozyme (Pyruvate kinase muscle isozyme) (Cytosolic thyroid hormone-binding protein) (CTHBP) (THBP1) XEDAR Xp22 similar to Pyruvate kinase, M1 isozyme (Pyruvate kinase muscle isozyme) (Cytosolic thyroid hormone-binding protein) (CTHBP) (THBP1) AR Xq11.21-q12.1 androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease) OPHN1 Xq12 oligophrenin 1 PGK1P1 Xq12 phosphoglycerate kinase 1, pseudogene 1
    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