Version 5.4
Homo sapiens Protein: HEPH
Summary
InnateDB Protein IDBP-73568.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEPH
Protein Name hephaestin
Synonyms CPL;
Species Homo sapiens
Ensembl Protein ENSP00000343939
InnateDB Gene IDBG-73560 (HEPH)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
Disease Associations
Tissue Specificity Detected in breast, colon, bone trabecular cells and fibroblasts.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004322 ferroxidase activity
GO:0005507 copper ion binding
GO:0008198 ferrous iron binding
GO:0016491 oxidoreductase activity
Biological Process
GO:0006825 copper ion transport
GO:0006826 iron ion transport
GO:0006879 cellular iron ion homeostasis
GO:0055085 transmembrane transport
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
Protein Structure and Domains
PDB ID
InterPro IPR008972 Cupredoxin
IPR011706 Multicopper oxidase, type 2
IPR011707 Multicopper oxidase, type 3
PFAM PF07731
PF07732
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BQS7
PhosphoSite PhosphoSite-Q9BQS7
TrEMBL Q5JZ07
UniProt Splice Variant
Entrez Gene 9843
UniGene Hs.31720
RefSeq
HUGO HGNC:4866
OMIM 300167
CCDS
HPRD 02159
IMGT
EMBL AB014598 AF148860 AJ296162 AK294278 AK316231 AL030998 AL157698 AY358990 BC011561 CH471132 DQ496100
GenPept AAH11561 AAK08131 AAQ89349 ABF47089 BAA31673 BAG57564 BAH14602 CAC35365 EAX05384 EAX05385 EAX05386 EAX05388

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca