P81172 · HEPC_HUMAN
- ProteinHepcidin
- GeneHAMP
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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).
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:11034317, PubMed:11113131).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameHepcidin
- Alternative names
- Cleaved into 2 chains
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP81172
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Hemochromatosis 2B (HFE2B)
- Note
- DescriptionA 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.
- See alsoMIM:613313
Natural variants in HFE2B
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_042512 | 59 | R>G | in HFE2B; dbSNP:rs779021719 | |
VAR_042513 | 70 | C>R | in HFE2B; dbSNP:rs1374259518 | |
VAR_026648 | 71 | G>D | in HFE2B; dbSNP:rs104894696 | |
VAR_042514 | 78 | C>Y | in HFE2B; dbSNP:rs1462013476 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_042512 | 59 | in HFE2B; dbSNP:rs779021719 | |||
Sequence: R → G | ||||||
Natural variant | VAR_042513 | 70 | in HFE2B; dbSNP:rs1374259518 | |||
Sequence: C → R | ||||||
Natural variant | VAR_026648 | 71 | in HFE2B; dbSNP:rs104894696 | |||
Sequence: G → D | ||||||
Natural variant | VAR_042514 | 78 | in HFE2B; dbSNP:rs1462013476 | |||
Sequence: C → Y |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 119 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, propeptide, peptide, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-24 | |||||
Sequence: MALSSQIWAACLLLLLLLASLTSG | ||||||
Propeptide | PRO_0000013378 | 25-54 | ||||
Sequence: SVFPQQTGQLAELQPQDRAGARASWMPMFQ | ||||||
Peptide | PRO_0000013379 | 60-84 | Hepcidin-25 | |||
Sequence: DTHFPICIFCCGCCHRSKCGMCCKT | ||||||
Peptide | PRO_0000013380 | 65-84 | Hepcidin-20 | |||
Sequence: ICIFCCGCCHRSKCGMCCKT | ||||||
Disulfide bond | 66↔82 | |||||
Sequence: CIFCCGCCHRSKCGMCC | ||||||
Disulfide bond | 69↔72 | |||||
Sequence: CCGC | ||||||
Disulfide bond | 70↔78 | |||||
Sequence: CGCCHRSKC | ||||||
Disulfide bond | 73↔81 | |||||
Sequence: CHRSKCGMC |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Highest expression in liver and to a lesser extent in heart and brain. Low levels in lung, tonsils, salivary gland, trachea, prostate gland, adrenal gland and thyroid gland. Secreted into the urine and blood (PubMed:11034317).
Expressed by hepatocytes (PubMed:15124018).
Expressed by hepatocytes (PubMed:15124018).
Induction
Expression in hepatocytes is induced by LPS stimulus and the induction is mediated by IL6 (PubMed:15124018).
Expression is inhibited in presence of TNF (PubMed:15124018).
Expression is inhibited in presence of TNF (PubMed:15124018).
Gene expression databases
Organism-specific databases
Structure
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length84
- Mass (Da)9,408
- Last updated2000-12-01 v2
- Checksum5F8DCA23D19D29F7
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 31 | in Ref. 3; AAK14912 | ||||
Sequence: T → M |
Mass Spectrometry
Hepcidin-25
Molecular mass is 2,789.8 Da. Determined by MALDI.Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF309489 EMBL· GenBank· DDBJ | AAG23966.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ277280 EMBL· GenBank· DDBJ | CAC09419.1 EMBL· GenBank· DDBJ | mRNA | ||
AF131292 EMBL· GenBank· DDBJ | AAK14912.1 EMBL· GenBank· DDBJ | mRNA | ||
AY358669 EMBL· GenBank· DDBJ | AAQ89032.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ496109 EMBL· GenBank· DDBJ | ABF47098.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AD000684 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC020612 EMBL· GenBank· DDBJ | AAH20612.1 EMBL· GenBank· DDBJ | mRNA |