HAMP - hepcidin antimicrobial peptide Gene
Also Known as HEPC; PLTR; HFE2B; LEAP1
Species: Homo sapiens
About HAMP
This gene has 3 transcripts (splice variants), 85 orthologues and is associated with 3 phenotypes. Biased expression in liver (RPKM 88.9) and heart (RPKM 10.6).
Summary
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]
HAMP Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_021175.4 | NP_066998.1 | hepcidin preproprotein |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables hormone activity |
IDA
IDA: Inferred from direct assay
|
15514116 | GOA |
| enables iron ion transmembrane transporter inhibitor activity |
IDA
IDA: Inferred from direct assay
|
15514116 | GOA |
| enables signaling receptor binding |
IPI
IPI: Inferred from physical interaction
|
15514116 | GOA |
| enables transporter regulator activity |
IDA
IDA: Inferred from direct assay
|
29237594 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| is active in extracellular space |
IDA
IDA: Inferred from direct assay
|
37277838 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
11113131 | GOA |
HAMP Protein Structure
Hepcidin: Hepcidin (33 - 84)
- 0
- 84 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hepcidin |
|
Recombinant HAMP Proteins
| Art. -Nr. | Produktname | Accession | Reinheit |
|---|---|---|---|
| HY-P70400 | Hepcidin/HAMP Protein, Human (GST) | P81172 (D60-T84) | ≥ 90%, as determined by reducing SDS-PAGE. |
HAMP Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P86908 | Hepcidin Antibody (YA6601) | WB, IHC-P | Human, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hemochromatosis, Type 2b |
|
|
| Hemochromatosis Type 2 |
|
|
| Hemochromatosis, Type 1 |
|
|
| Deficiency Anemia |
|
|
| Iron Deficiency Anemia |
|
|
| Porphyria Cutanea Tarda |
|
|
| Metal Metabolism Disorder |
|
|
| Rare Hereditary Hemochromatosis |
|
|
| Hemochromatosis, Type 4 |
|
|
| Porphyria |
|
|
| Anemia, Sideroblastic, 1 |
|
|
| Beta-Thalassemia Intermedia |
|
|
| Atransferrinemia |
|
|
| Sideroblastic Anemia |
|
|
| Thalassemia |
|
|
| Beta-Thalassemia |
|
|
| Restless Legs Syndrome |
|
|
| Hemochromatosis, Type 3 |
|
|
| Folic Acid Deficiency Anemia |
|
|
| Anemia Of Prematurity |
|
|
| Polycythemia |
|
|
| Beta-Thalassemia Major |
|
|
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
|
| Arthropathy |
|
|
| Iron Overload In Africa |
|
|
| Hypochromic Microcytic Anemia |
|
|
| Alpha-1-Antitrypsin Deficiency |
|
|
| Hemosiderosis |
|
|
| Malaria |
|
|
| Iron Metabolism Disease |
|
|
| Microcytic Anemia |
|
|
| Nutritional Deficiency Disease |
|
|
| Thalassemia Minor |
|
|
| Polycythemia Vera |
|
|
| Hyperferritinemia With Or Without Cataract |
|
|
| Siderosis |
|
|
| Neonatal Anemia |
|
|
| Mineral Metabolism Disease |
|
|
| Congenital Dyserythropoietic Anemia |
|
|
| Acute Porphyria |
|
|
| Hemoglobin H Disease |
|
|
| Congenital Hemolytic Anemia |
|
|
| Hemoglobinopathy |
|
|
| Vitamin B12 Deficiency |
|
|
| Cutaneous Porphyria |
|
|
| Vitamin Metabolic Disorder |
|
|
| Multicentric Castleman Disease |
|
|
| Erythrocytosis, Familial, 2 |
|
|
| Sickle Cell Anemia |
|
|
| Lung Clear Cell Carcinoma |
|
|
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
|
| Aceruloplasminemia |
|
|
| Hemolytic Anemia |
|
|
| Hereditary Spherocytosis |
|
|
| Osteoporosis |
|
|
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
|
| Autosomal Dominant Beta Thalassemia |
|
|
| Alpha-Thalassemia |
|
|
| Intracranial Cavernous Angioma |
|
|
| Intracranial Structure Hemangioma |
|
|
| Diamond-Blackfan Anemia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | HAMP | VGNC | VGNC:29745 |
| Canis familiaris | HAMP | VGNC | VGNC:41588 |
| Mus musculus | HAMP | MGD | MGI:1933533 |
| Rattus norvegicus | HAMP | RGD | RGD:70971 |
| Macaca mulatta | HAMP | VGNC | VGNC:73171 |
| Others | HAMP | NCBI |