BC011561
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
100,624 Da
NCBI Official Full Name
Homo sapiens hephaestin, mRNA
NCBI Official Synonym Full Names
hephaestin
NCBI Official Synonym Symbols
NCBI Protein Information
hephaestin
UniProt Protein Name
Hephaestin
UniProt Synonym Gene Names
UniProt Entry Name
HEPH_HUMAN
NCBI Summary for HEPH
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]
UniProt Comments for HEPH
HEPH: 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. Belongs to the multicopper oxidase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Oxidoreductase; Membrane protein, integral; EC 1.-.-.-
Chromosomal Location of Human Ortholog: Xq11-q12
Cellular Component: basolateral plasma membrane; intracellular; plasma membrane
Molecular Function: copper ion binding; ferrous iron binding; ferroxidase activity
Biological Process: cellular iron ion homeostasis; iron ion transport
Research Articles on HEPH
Precautions
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Disclaimer
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Pathways associated with HEPH cdna clone
Diseases associated with HEPH cdna clone
Organs/Tissues associated with HEPH cdna clone
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