Human Gene HEPH (ENST00000519389.6) from GENCODE V44
Description: Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. (from RefSeq NM_138737) RefSeq Summary (NM_138737): This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. Gencode Transcript: ENST00000519389.6 Gencode Gene: ENSG00000089472.18 Transcript (Including UTRs) Position: hg38 chrX:66,162,671-66,268,867 Size: 106,197 Total Exon Count: 21 Strand: + Coding Region Position: hg38 chrX:66,170,571-66,266,672 Size: 96,102 Coding Exon Count: 20
ID:HEPH_HUMAN DESCRIPTION: RecName: Full=Hephaestin; EC=1.-.-.-; Flags: Precursor; FUNCTION: May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1. COFACTOR: Binds 6 copper ions per monomer (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential). TISSUE SPECIFICITY: Detected in breast, colon, bone trabecular cells and fibroblasts. SIMILARITY: Belongs to the multicopper oxidase family. SIMILARITY: Contains 6 plastocyanin-like domains. SEQUENCE CAUTION: Sequence=AAQ89349.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAX05385.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAX05388.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=Wikipedia; Note=Hephaestin entry; URL="http://en.wikipedia.org/wiki/Hephaestin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BQS7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC011561 - Homo sapiens hephaestin, mRNA (cDNA clone MGC:20135 IMAGE:4644318), complete cds. AK311043 - Homo sapiens cDNA, FLJ18085. AB014598 - Homo sapiens KIAA0698 mRNA for KIAA0698 protein. AY358990 - Homo sapiens clone DNA104875 HEPH (UNQ2562) mRNA, complete cds. AK307761 - Homo sapiens cDNA, FLJ97709. AJ296162 - Homo sapiens mRNA for hephaestin (HEPH gene). AF148860 - Homo sapiens hephaestin (HEPH) mRNA, complete cds. EU176678 - Synthetic construct Homo sapiens clone IMAGE:100011477; FLH184600.01L; RZPDo839E02255D hephaestin (HEPH) gene, encodes complete protein. EU831491 - Synthetic construct Homo sapiens clone HAIB:100066520; DKFZo008H0917 hephaestin protein (HEPH) gene, encodes complete protein. EU831578 - Synthetic construct Homo sapiens clone HAIB:100066607; DKFZo004H0918 hephaestin protein (HEPH) gene, encodes complete protein. DQ893628 - Synthetic construct clone IMAGE:100006258; FLH184601.01X; RZPDo839H09144D hephaestin (HEPH) gene, encodes complete protein. AB527160 - Synthetic construct DNA, clone: pF1KA0698, Homo sapiens HEPH gene for hephaestin, without stop codon, in Flexi system. JD422844 - Sequence 403868 from Patent EP1572962. JD328132 - Sequence 309156 from Patent EP1572962. JD278583 - Sequence 259607 from Patent EP1572962. JD233950 - Sequence 214974 from Patent EP1572962. JD171029 - Sequence 152053 from Patent EP1572962. JD556507 - Sequence 537531 from Patent EP1572962. JD519283 - Sequence 500307 from Patent EP1572962. JD509391 - Sequence 490415 from Patent EP1572962. JD146666 - Sequence 127690 from Patent EP1572962. JD320841 - Sequence 301865 from Patent EP1572962. JD265319 - Sequence 246343 from Patent EP1572962. JD393131 - Sequence 374155 from Patent EP1572962. JD214415 - Sequence 195439 from Patent EP1572962. JD377792 - Sequence 358816 from Patent EP1572962. JD268577 - Sequence 249601 from Patent EP1572962. JD086560 - Sequence 67584 from Patent EP1572962. JD467999 - Sequence 449023 from Patent EP1572962. AK294278 - Homo sapiens cDNA FLJ61228 complete cds, highly similar to Hephaestin precursor (EC 1.-.-.-). AK316231 - Homo sapiens cDNA, FLJ79130 complete cds, highly similar to Hephaestin precursor (EC 1.-.-.-). AK295456 - Homo sapiens cDNA FLJ60263 complete cds, highly similar to Hephaestin precursor (EC 1.-.-.-). AK022472 - Homo sapiens cDNA FLJ12410 fis, clone MAMMA1002938, highly similar to Homo sapiens mRNA for KIAA0698 protein. JD194136 - Sequence 175160 from Patent EP1572962. JD355105 - Sequence 336129 from Patent EP1572962. JD123164 - Sequence 104188 from Patent EP1572962. JD067371 - Sequence 48395 from Patent EP1572962. AF075034 - Homo sapiens full length insert cDNA YN55G07. JD277743 - Sequence 258767 from Patent EP1572962. JD510020 - Sequence 491044 from Patent EP1572962. JD046343 - Sequence 27367 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9BQS7 (Reactome details) participates in the following event(s):
R-HSA-442368 SLC40A1:HEPH:6Cu2+ transports Fe2+ from cytosol to extracellular region R-HSA-917933 SLC40A1:HEPH:6Cu2+ oxidises 4Fe2+ to 4Fe3+ R-HSA-425410 Metal ion SLC transporters R-HSA-917937 Iron uptake and transport R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds R-HSA-382551 Transport of small molecules R-HSA-425407 SLC-mediated transmembrane transport