HAMP
entrez
57817
canonical
uniprot
P81172
canonical
ensembl
ENSG00000105697
resolver
ensp
ENSP00000222304
resolver
ensp
ENSP00000471894
resolver
enst
ENST00000222304
resolver
enst
ENST00000598398
resolver
genesymbol
HAMP
resolver
genesymbol_syn
HEPC
resolver
genesymbol_syn
LEAP1
resolver
hgnc
HGNC:15598
resolver
uniprot
Q1HE14
resolver
uniprot
Q9BY68
resolver
uniprot_entry
HEPC_HUMAN
resolver
uniprot_sec
Q1HE14
resolver
uniprot_sec
Q9BY68
resolver
amino_acid_sequence
MALSSQIWAACLLLLLLLASLTSGSVFPQQTGQLAELQPQDRAGARASWMPMFQRRRRRDTHFPICIFCCGCCHRSKCGMCCKT
uniprot
proteins
disease_involvement
DISEASE: Hemochromatosis 2B (HFE2B) [MIM:613313]: 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. {ECO:0000269|PubMed:12915468, ECO:0000269|PubMed:14630809, ECO:0000269|PubMed:14633868, ECO:0000269|PubMed:14670915, ECO:0000269|PubMed:15099344}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
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). {ECO:0000269|PubMed:22306005, ECO:0000269|PubMed:22682227, ECO:0000269|PubMed:29237594, ECO:0000269|PubMed:32814342}.; FUNCTION: 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). {ECO:0000269|PubMed:11034317, ECO:0000269|PubMed:11113131}.
uniprot
proteins
mass_dalton
9408
uniprot
proteins
protein_family
Hepcidin family
uniprot
proteins
pubmed
11034317
uniprot
proteins
pubmed
11113131
uniprot
proteins
pubmed
12010514
uniprot
proteins
pubmed
12138110
uniprot
proteins
pubmed
12915468
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14630809
uniprot
proteins
pubmed
14633868
uniprot
proteins
pubmed
14670915
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15099344
uniprot
proteins
pubmed
15124018
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19553669
uniprot
proteins
pubmed
22306005
uniprot
proteins
pubmed
22682227
uniprot
proteins
pubmed
29237594
uniprot
proteins
pubmed
32814342
uniprot
proteins
sequence_length
84
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11034317}.
uniprot
proteins