HAMP

Protein identityUniProt · HPA

UniProt accession

P81172

Gene

HAMP

Ensembl

ENSG00000105697

Chromosome

19

Canonical length

84 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted secreted proteins, Transporters

Secretome location

Secreted to blood

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

84 residues, UniProt reviewed canonical sequence.

>P81172|HAMP
     1  MALSSQIWAA CLLLLLLLAS LTSGSVFPQQ TGQLAELQPQ DRAGARASWM PMFQRRRRRD
    61  THFPICIFCC GCCHRSKCGM CCKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HAMP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.58

Highest tissue expression

3,624 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HAMP.

Disease | AllUniProt

Conditions HAMP is implicated in, by any mechanism.

• Hemochromatosis 2B (HFE2B) MIM:613313

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 95 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hemochromatosis type 2B
• Hereditary hemochromatosis
• Hemochromatosis, juvenile, digenic

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.81

gnomAD pLI

0.01

gnomAD missense Z

0.15

DepMap mean gene effect

-0.24

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• defense response to bacterium
• defense response to fungus
• immune response
• intracellular iron ion homeostasis
• killing of cells of another organism
• multicellular organismal-level iron ion homeostasis
• negative regulation of transcription by RNA polymerase II
• positive regulation of proteasomal ubiquitin-dependent protein catabolic process
• response to iron ion
• negative regulation of intestinal absorption
• negative regulation of iron export across plasma membrane
• negative regulation of iron ion transmembrane transport

Molecular functions

• hormone activity
• transporter regulator activity

Cellular components

• extracellular region
• extracellular space

Protein domainsUniProt · Pfam · InterPro

• Hepcidin
• Hepcidin

KeywordsUniProt

• Antibiotic
• Antimicrobial
• Cleavage on pair of basic residues
• Disulfide bond
• Fungicide
• Hormone
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of HAMP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SLC40A1