Property Summary

NCBI Gene PubMed Count 28
PubMed Score 89.85
PubTator Score 50.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Protein-protein Interaction (1)

Gene RIF (14)

PMID Text
24988611 This review describes function of hephaestin as ferroxidase is essential for iron binding to apotransferrin in the lamina propria of the intestinal mucosa, a process that is important for further transport of iron to the liver by the portal vein.
23640881 Iron efflux from human brain microvasculature endothelial cells ferroportin requires the action of an exocytoplasmic ferroxidase which can be either endogenous hephaestin or extracellular ceruloplasmin.
22503983 These results support the hypothesis that hephaestin is involved in iron mobilization of iron from the intestine to circulation.
22170436 Heph is active in placenta but may not play a key role in placental iron transport.
21802403 In contrast to ceruloplasmin, hephaestin was incapable of direct oxidation of adrenaline and dopamine implying a difference in biological substrate specificities between these two homologous ferroxidases.
20587610 Observational study of gene-disease association. (HuGE Navigator)
20019163 Hephaestin is expressed in enterocytes, in the antral portion of the stomach, in the myenteric and submucous plexi, and in pancreatic beta-cells.
19452451 Repletion of copper in Caco2 cells leads to reconstitution of hephaestin protein expression, activity, and transepithelial iron transport.
18022819 stable complex between these Cp and Hp and Tf does not occur under the experimental conditions used
17486601 Results suggest the possibility that FPN-1 might associate and interact with Heph in the process of iron exit across the basolateral membrane of intestinal absorptive cell.
16274220 Reombinant hephaestin was shown to have both multicopper oxidase and ferroxidase activity.
16137899 The hephaestin protein mRNA expression is not significantly altered by variations in iron homeostasis. The effect of phlebotomy-induced erythropoiesis did not alter either gene transcript mRNA expression.
11932491 The gene structure, spanning approximately 100 kb, was assembled from the cDNA clones and the chromosome X genomic sequence data. Modelling supports its role as a membrane-tethered ferroxidase.
11891802 location was observed on or near the cell surface suggesting it might participate in surface membrane transport of iron

AA Sequence

MESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASSFLKSDKNRIG      1 - 70
GTYKKTIYKEYKDDSYTDEVAQPAWLGFLGPVLQAEVGDVILIHLKNFATRPYTIHPHGVFYEKDSEGSL     71 - 140
YPDGSSGPLKADDSVPPGGSHIYNWTIPEGHAPTDADPACLTWIYHSHVDAPRDIATGLIGPLITCKRGA    141 - 210
LDGNSPPQRQDVDHDFFLLFSVVDENLSWHLNENIATYCSDPASVDKEDETFQESNRMHAINGFVFGNLP    211 - 280
ELNMCAQKRVAWHLFGMGNEIDVHTAFFHGQMLTTRGHHTDVANIFPATFVTAEMVPWEPGTWLISCQVN    281 - 350
SHFRDGMQALYKVKSCSMAPPVDLLTGKVRQYFIEAHEIQWDYGPMGHDGSTGKNLREPGSISDKFFQKS    351 - 420
SSRIGGTYWKVRYEAFQDETFQEKMHLEEDRHLGILGPVIRAEVGDTIQVVFYNRASQPFSMQPHGVFYE    421 - 490
KDYEGTVYNDGSSYPGLVAKPFEKVTYRWTVPPHAGPTAQDPACLTWMYFSAADPIRDTNSGLVGPLLVC    491 - 560
RAGALGADGKQKGVDKEFFLLFTVLDENKSWYSNANQAAAMLDFRLLSEDIEGFQDSNRMHAINGFLFSN    561 - 630
LPRLDMCKGDTVAWHLLGLGTETDVHGVMFQGNTVQLQGMRKGAAMLFPHTFVMAIMQPDNLGTFEIYCQ    631 - 700
AGSHREAGMRAIYNVSQCPGHQATPRQRYQAARIYYIMAEEVEWDYCPDRSWEREWHNQSEKDSYGYIFL    701 - 770
SNKDGLLGSRYKKAVFREYTDGTFRIPRPRTGPEEHLGILGPLIKGEVGDILTVVFKNNASRPYSVHAHG    771 - 840
VLESTTVWPLAAEPGEVVTYQWNIPERSGPGPNDSACVSWIYYSAVDPIKDMYSGLVGPLAICQKGILEP    841 - 910
HGGRSDMDREFALLFLIFDENKSWYLEENVATHGSQDPGSINLQDETFLESNKMHAINGKLYANLRGLTM    911 - 980
YQGERVAWYMLAMGQDVDLHTIHFHAESFLYRNGENYRADVVDLFPGTFEVVEMVASNPGTWLMHCHVTD    981 - 1050
HVHAGMETLFTVFSRTEHLSPLTVITKETEKAVPPRDIEEGNVKMLGMQIPIKNVEMLASVLVAISVTLL   1051 - 1120
LVVLALGGVVWYQHRQRKLRRNRRSILDDSFKLLSFKQ                                   1121 - 1158
//

Text Mined References (30)

PMID Year Title
24988611 2014 [Ceruloplasmin, hephaestin and zyklopen: the three multicopper oxidases important for human iron metabolism].
23640881 2013 Ferroportin and exocytoplasmic ferroxidase activity are required for brain microvascular endothelial cell iron efflux.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22961397 2012 Functional role of the putative iron ligands in the ferroxidase activity of recombinant human hephaestin.
22666411 2012 An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12.
22503983 2012 Iron repletion relocalizes hephaestin to a proximal basolateral compartment in polarized MDCK and Caco2 cells.
22170436 2012 Ferroportin 1 and hephaestin expression in BeWo cell line with different iron treatment.
21802403 2011 Oxidation of organic and biogenic amines by recombinant human hephaestin expressed in Pichia pastoris.
20932654 2010 Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
20587610 2010 Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.
20019163 2010 Human hephaestin expression is not limited to enterocytes of the gastrointestinal tract but is also found in the antrum, the enteric nervous system, and pancreatic {beta}-cells.
19452451 2009 Decreased hephaestin expression and activity leads to decreased iron efflux from differentiated Caco2 cells.
18022819 2008 Neither human hephaestin nor ceruloplasmin forms a stable complex with transferrin.
17486601 2007 Colocalization of ferroportin-1 with hephaestin on the basolateral membrane of human intestinal absorptive cells.
16274220 2005 Recombinant expression and functional characterization of human hephaestin: a multicopper oxidase with ferroxidase activity.
16137899 Duodenal Dcytb and hephaestin mRNA expression are not significantly modulated by variations in body iron homeostasis.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12949720 2003 Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11932491 2002 Analysis of the human hephaestin gene and protein: comparative modelling of the N-terminus ecto-domain based upon ceruloplasmin.
11891802 2002 Cellular location of proteins related to iron absorption and transport.
10843811 2000 Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation.
9988272 1999 Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse.
9734811 1998 Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.