| IED ID | IndEnz0002008709 |
| Enzyme Type ID | protease008709 |
| Protein Name |
Hemojuvelin Hemochromatosis type 2 protein Hemojuvelin BMP coreceptor RGM domain family member C |
| Gene Name | HJV HFE2 RGMC |
| Organism | Homo sapiens (Human) |
| Taxonomic Lineage | cellular organisms Eukaryota Opisthokonta Metazoa Eumetazoa Bilateria Deuterostomia Chordata Craniata Vertebrata Gnathostomata (jawed vertebrates) Teleostomi Euteleostomi Sarcopterygii Dipnotetrapodomorpha Tetrapoda Amniota Mammalia Theria Eutheria Boreoeutheria Euarchontoglires Primates Haplorrhini Simiiformes Catarrhini Hominoidea (apes) Hominidae (great apes) Homininae Homo Homo sapiens (Human) |
| Enzyme Sequence | MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSGALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCSRQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ |
| Enzyme Length | 426 |
| Uniprot Accession Number | Q6ZVN8 |
| Absorption | |
| Active Site | |
| Activity Regulation | |
| Binding Site | |
| Calcium Binding | |
| catalytic Activity | |
| DNA Binding | |
| EC Number | |
| Enzyme Function | FUNCTION: Acts as a bone morphogenetic protein (BMP) coreceptor (PubMed:18976966). Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis (PubMed:18976966). {ECO:0000269|PubMed:18976966}. |
| Temperature Dependency | |
| PH Dependency | |
| Pathway | |
| nucleotide Binding | |
| Features | Alternative sequence (2); Chain (1); Disulfide bond (2); Glycosylation (3); Helix (4); Lipidation (1); Modified residue (1); Natural variant (15); Propeptide (1); Region (1); Sequence conflict (2); Signal peptide (1); Site (1) |
| Keywords | 3D-structure;Alternative splicing;Autocatalytic cleavage;Cell membrane;Disease variant;Disulfide bond;GPI-anchor;Glycoprotein;Lipoprotein;Membrane;Phosphoprotein;Reference proteome;Signal |
| Interact With | P12643; Q92859; Q8IU80-4; P12643; P55061 |
| Induction | |
| Subcellular Location | SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}. Note=Also released in the extracellular space. {ECO:0000269|PubMed:25156943}. |
| Modified Residue | MOD_RES 46; /note=Phosphotyrosine; /evidence=ECO:0000250|UniProtKB:Q7TQ32 |
| Post Translational Modification | PTM: Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds (PubMed:25156943). Also proteolytically processed by TMPRSS6, several fragments being released in the extracellular space; regulates HJV activity in BMP signaling and thefore iron homeostasis (PubMed:18976966, PubMed:25156943). {ECO:0000269|PubMed:18976966, ECO:0000269|PubMed:25156943}. |
| Signal Peptide | SIGNAL 1..35; /evidence=ECO:0000255 |
| Structure 3D | X-ray crystallography (2) |
| Cross Reference PDB | 4UI1; 6Z3L; |
| Mapped Pubmed ID | 15138164; 15194541; 15254010; 15258591; 15315789; 15528154; 15590393; 15610137; 15610558; 15611318; 15685557; 15710580; 15811010; 15967692; 15998830; 16099526; 16103117; 16103673; 16932966; 17264300; 17339196; 17768121; 17847004; 17869549; 17938254; 18287331; 18326817; 18335997; 18445598; 18725184; 18762941; 18827264; 19029439; 19214511; 19287179; 19564337; 19787796; 19847924; 20530805; 20549515; 20587610; 20593054; 20704562; 20713458; 20937842; 21039223; 21088809; 21411349; 21495455; 21863061; 22076499; 22365732; 22398782; 22728873; 23375327; 23901875; 24356769; 24584909; 24635876; 25152992; 25567873; 25666510; 25704252; 25938661; 26405701; 26633544; 27051019; 28130911; 28363629; 28476747; 29386545; 30166352; 30389309; 30884219; 31307288; 32576689; |
| Motif | |
| Gene Encoded By | |
| Mass | 45,080 |
| Kinetics | |
| Metal Binding | |
| Rhea ID | |
| Cross Reference Brenda |