Version 5.4
| Mus musculus Protein: Heph | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-253021.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | Heph | ||||||||
| Protein Name | hephaestin | ||||||||
| Synonyms | C130006F04Rik; Cpl; mKIAA0698; sla; | ||||||||
| Species | Mus musculus | ||||||||
| Ensembl Protein | ENSMUSP00000109469 | ||||||||
| InnateDB Gene | IDBG-161021 (Heph) | ||||||||
| Protein Structure |
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| 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 | Note=Defects in Heph are a cause of the sex-linked anemia (sla) that is characterized by moderate to severe microcytic hypochronic anemia. | ||||||||
| Tissue Specificity | |||||||||
| Comments | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||
| PDB ID | MGI:1332240 | ||||||||
| InterPro |
IPR008972
Cupredoxin IPR011706 Multicopper oxidase, type 2 IPR011707 Multicopper oxidase, type 3 |
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| PFAM |
PF07731
PF07732 |
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| PRINTS | |||||||||
| PIRSF | |||||||||
| SMART | |||||||||
| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | Q9Z0Z4 | ||||||||
| PhosphoSite | PhosphoSite-Q9Z0Z4 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 15203 | ||||||||
| UniGene | Mm.475343 | ||||||||
| RefSeq | NP_001153099 | ||||||||
| MGI ID | |||||||||
| MGI Symbol | Heph | ||||||||
| OMIM | |||||||||
| CCDS | CCDS30289 | ||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | AF082567 AK081330 AK129194 AL732365 BC048237 BC054442 CH466564 | ||||||||
| GenPept | AAD16035 AAH48237 AAH54442 BAC38197 BAC98004 CAM22078 EDL14216 | ||||||||