| URN | urn:agi-llid:57817 |
|---|---|
| Total Entities | 0 |
| Connectivity | 767 |
| Name | Hamp |
| Description | hepcidin antimicrobial peptide |
| Notes | The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Jul 2008] |
| GO Molecular Function | hormone activity |
|---|
| GO Cellular Component | extracellular region |
|---|---|
| apical cortex |
| GO Biological Process | immune response |
|---|---|
| cellular iron ion homeostasis | |
| killing of cells of other organism | |
| defense response to bacterium | |
| defense response to fungus |
| Pathway | Proteins Involved in Pathogenesis of Atherosclerosis |
|---|---|
| Proteins Involved in Pathogenesis of Myocardial Ischemia | |
| BMP7-ACVR2 Expression Targets | |
| INHBA-ACVR2/ACVR1 Expression Targets | |
| BMP2-BMPR2 Expression Targets | |
| BMP4-BMPR2 Expression Targets | |
| BMP7-BMPR2/ACVR2 Expression Targets | |
| BMP6-ACVR2A Expression Targets | |
| IL6 Expression Targets | |
| LIF Expression Targets | |
| IFNG-IFNR Expression Targets | |
| Leptin/ELK-SRF Expression Targets | |
| Leptin/STAT Expression Targets | |
| IL1A Expression Targets | |
| INHBA-ACVR2/BMPR Expression Targets | |
| TGFB1-TGFBR1 Expression Targets | |
| TGFB1-ACVRL1 Expression Targets | |
| TLR4/AP-1/EGR1/HIF1A Expression Targets | |
| IL1B Expression Targets | |
| iron homeostasis pathway |
| Group | HAMP |
|---|---|
| immune response | |
| cellular iron ion homeostasis | |
| killing of cells of other organism | |
| defense response to bacterium | |
| defense response to fungus | |
| hormone activity | |
| extracellular region | |
| apical cortex | |
| Secreted proteins | |
| Biofluids assayable substances |
| LocusLink ID | 57817 |
|---|
| Cell Localization | Extracellular |
|---|---|
| Secreted |
| GO ID | 0005179 |
|---|---|
| 0006879 | |
| 0042742 | |
| 0050832 | |
| 0006955 | |
| 0031640 | |
| 0045179 | |
| 0005576 |
| Alias | HEPC |
|---|---|
| PLTR | |
| HFE2B | |
| LEAP1 | |
| UNQ487/PRO1003 | |
| hepcidin | |
| putative liver tumor regressor | |
| liver-expressed antimicrobial peptide 1 | |
| LEAP I | |
| liver-expressed antimicrobial peptide | |
| Hamp | |
| HAMP1 | |
| hepcidin antimicrobial peptide | |
| Antimicrobial peptide hepcidin | |
| HEPC I | |
| HEPC1 |
| OMIM ID | 606464 |
|---|---|
| 613313 |
| Hugo ID | 15598 |
|---|
| Human chromosome position | 19q13.1 |
|---|
| Swiss-Prot Accession | P81172 |
|---|---|
| Q1HE14 | |
| Q9BY68 |
| Unigene ID | Hs.8821 |
|---|
| KEGG ID | hsa:57817 |
|---|
| Swiss-Prot ID | HEPC_HUMAN |
|---|
| Organism | Homo sapiens |
|---|
| RGD ID | 70971 |
|---|
| MedScan ID | 57817 |
|---|