HAMP

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 against bacteria and fungi. 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, Oct 2014]

Full Name

Hepcidin Antimicrobial Peptide

Function

Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin/SLC40A1, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma (PubMed:22682227, PubMed:29237594, PubMed:32814342).

Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes (PubMed:22306005).

Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa (PubMed:11113131, PubMed:11034317).

Biological Process

Acute-phase response Source: Ensembl
Aging Source: Ensembl
Antimicrobial humoral immune response mediated by antimicrobial peptide Source: UniProtKB
Cellular iron ion homeostasis Source: BHF-UCL
Cellular response to bile acid Source: Ensembl
Cellular response to interleukin-6 Source: Ensembl
Cellular response to lipopolysaccharide Source: Ensembl
Cellular response to tumor necrosis factor Source: Ensembl
Cellular response to X-ray Source: Ensembl
Defense response to bacterium Source: GO_Central
Defense response to fungus Source: UniProtKB
Defense response to Gram-negative bacterium Source: UniProtKB
Defense response to Gram-positive bacterium Source: UniProtKB
Immune response Source: UniProtKB
Killing of cells of other organism Source: UniProtKB
Liver regeneration Source: Ensembl
Multicellular organismal iron ion homeostasis Source: BHF-UCL
Myeloid cell homeostasis Source: Ensembl
Negative regulation of bone resorption Source: Ensembl
Negative regulation of inflammatory response Source: Ensembl
Negative regulation of intestinal absorption Source: BHF-UCL
Negative regulation of ion transmembrane transporter activity Source: BHF-UCL
Negative regulation of iron export across plasma membrane Source: BHF-UCL
Negative regulation of iron ion transmembrane transport Source: GO_Central
Negative regulation of iron ion transmembrane transporter activity Source: BHF-UCL
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of cell growth involved in cardiac muscle cell development Source: Ensembl
Positive regulation of cellular protein catabolic process Source: Ensembl
Positive regulation of macrophage activation Source: Ensembl
Positive regulation of protein polyubiquitination Source: BHF-UCL
Positive regulation of receptor catabolic process Source: BHF-UCL
Positive regulation of receptor internalization Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: Ensembl
Receptor signaling pathway via JAK-STAT Source: Ensembl
Response to erythropoietin Source: Ensembl
Response to ethanol Source: Ensembl
Response to iron ion Source: BHF-UCL
Response to iron ion starvation Source: Ensembl
Response to vitamin A Source: Ensembl
Response to zinc ion Source: Ensembl

Cellular Location

Secreted

Involvement in disease

Hemochromatosis 2B (HFE2B):
A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.