Hemojuvelin
| Hemojuvelin | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 21-45 kilodaltons / 200 - 426 amino acids (depending on isoform) | |
| Precursor | (426 aa) | |
| Isoforms | 2 cyt., 2 mem. | |
| Identifier | ||
| Gene names | HFE2 HFE2A; HJV; JH; RGMC | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Vertebrates | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 148738 | 69585 |
| Ensemble | ENSG00000168509 | ENSMUSG00000038403 |
| UniProt | Q6ZVN8 | Q7TQ32 |
| Refseq (mRNA) | NM_145277 | NM_027126 |
| Refseq (protein) | NP_660320 | NP_081402 |
| Gene locus | Chr 1: 146.02 - 146.02 Mb | Chr 3: 96.53 - 96.53 Mb |
| PubMed search | 148738 |
69585
|
Hemojuvelin (HJV, RGMc) is a protein in vertebrates that is involved both as a regulator of iron metabolism and in axonal targeting . In humans, HJV is expressed primarily in the liver , heart and skeletal muscles . There are at least three isoforms of the protein, some of which are cytosolic , some of which are membrane-bound and have different functions. Mutations at HFE2 - gene are responsible for juvenile hemochromatosis responsible (Type 2A).
Hepcidin binds to ferroportin in the intestine and thus prevents the iron absorbed by the mucosa cells from being released into the bloodstream. Mice that do not have the HFE2 gene also produce little hepcidin. It is therefore believed that one of the hemojuvelins is necessary for the expression of hepcidin. Further studies suggest that hemojuvelin uses the BMP signaling pathway for this purpose. This was confirmed by a study in which an inhibitor of this signaling pathway, dorsomorphin , was discovered for the first time .
Individual evidence
- ↑ Homologues at OMA
- ↑ UniProt Q6ZVN8
- ↑ Niederkofler V, Salie R, Arber S: Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload . In: J. Clin. Invest. . 115, No. 8, August 2005, pp. 2180-6. doi : 10.1172 / JCI25683 . PMID 16075058 . PMC 1180556 (free full text).
- ↑ Babitt JL, Huang FW, Wrighting DM, et al. : Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression Archived from the original on February 5, 2015. Info: The archive link has been inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. (PDF) In: Nat. Genet. . 38, No. 5, May 2006, pp. 531-9. doi : 10.1038 / ng1777 . PMID 16604073 .
- ↑ Yu PB, Hong CC, Sachidanandan C, et al. : Dorsomorphin inhibits BMP signals required for embryogenesis and iron metabolism . In: Nat. Chem. Biol . 4, No. 1, January 2008, pp. 33-41. doi : 10.1038 / nchembio.2007.54 . PMID 18026094 . PMC 2727650 (free full text).
