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Gene id

57817

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HAMP Gene UCSC Ensembl

Aliases

HEPC, HFE2B, LEAP1, PLTR

Gene name

hepcidin antimicrobial peptide

Alternate names

hepcidin, liver-expressed antimicrobial peptide 1, putative liver tumor regressor,

Gene location

19q13.12 (35282345: 35285142) Exons: 3 NC_000019.10

Gene summary(Entrez)

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]

OMIM

606464

Protein Summary

Protein general information

P81172

Name: Hepcidin (Liver expressed antimicrobial peptide 1) (LEAP 1) (Putative liver tumor regressor) (PLTR) [Cleaved into: Hepcidin 25 (Hepc25); Hepcidin 20 (Hepc20)]

Length: 84 Mass: 9,408

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. {ECO

Sequence

MALSSQIWAACLLLLLLLASLTSGSVFPQQTGQLAELQPQDRAGARASWMPMFQRRRRRDTHFPICIFCCGCCHR
SKCGMCCKT

Structural information

Interpro:	IPR010500
Pfam:	PF06446
PDB:	1M4E 1M4F 2KEF 3H0T 4QAE
PDBsum:	1M4E 1M4F 2KEF 3H0T 4QAE
STRING:	ENSP00000222304;

Other Databases

GeneCards: HAMP; Malacards: HAMP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0002092	positive regulation of re ceptor internalization	IDA	biological_process
GO:0005102	receptor binding	IPI	molecular_function
GO:0005102	receptor binding	IPI	molecular_function
GO:0005179	hormone activity	IEA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005623	cell	IEA	cellular_component
GO:0006879	cellular iron ion homeost asis	IDA	biological_process
GO:0006879	cellular iron ion homeost asis	IDA	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0010039	response to iron ion	IMP	biological_process
GO:0031640	killing of cells of other organism	IEA	biological_process
GO:0032413	negative regulation of io n transmembrane transport er activity	IDA	biological_process
GO:0042742	defense response to bacte rium	IBA	biological_process
GO:0045179	apical cortex	IEA	cellular_component
GO:0050832	defense response to fungu s	IEA	biological_process
GO:0060586	multicellular organismal iron ion homeostasis	IMP	biological_process
GO:0097690	iron channel inhibitor ac tivity	IDA	molecular_function
GO:1902916	positive regulation of pr otein polyubiquitination	IDA	biological_process
GO:1904039	negative regulation of fe rrous iron export	IDA	biological_process
GO:1904255	negative regulation of ir on channel activity	IDA	biological_process
GO:1904479	negative regulation of in testinal absorption	IMP	biological_process
GO:2000646	positive regulation of re ceptor catabolic process	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0002092	positive regulation of re ceptor internalization	IDA	biological_process
GO:0005102	receptor binding	IPI	molecular_function
GO:0005102	receptor binding	IPI	molecular_function
GO:0005179	hormone activity	IEA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	NAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005623	cell	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006879	cellular iron ion homeost asis	IEA	biological_process
GO:0006879	cellular iron ion homeost asis	IEA	biological_process
GO:0006879	cellular iron ion homeost asis	IDA	biological_process
GO:0006879	cellular iron ion homeost asis	IDA	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0010039	response to iron ion	IMP	biological_process
GO:0031640	killing of cells of other organism	IEA	biological_process
GO:0032413	negative regulation of io n transmembrane transport er activity	IDA	biological_process
GO:0042742	defense response to bacte rium	IBA	biological_process
GO:0042742	defense response to bacte rium	IEA	biological_process
GO:0045179	apical cortex	IEA	cellular_component
GO:0050832	defense response to fungu s	IEA	biological_process
GO:0060586	multicellular organismal iron ion homeostasis	IMP	biological_process
GO:0097690	iron channel inhibitor ac tivity	IDA	molecular_function
GO:1902916	positive regulation of pr otein polyubiquitination	IDA	biological_process
GO:1904039	negative regulation of fe rrous iron export	IDA	biological_process
GO:1904255	negative regulation of ir on channel activity	IDA	biological_process
GO:1904479	negative regulation of in testinal absorption	IMP	biological_process
GO:2000646	positive regulation of re ceptor catabolic process	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0002092	positive regulation of re ceptor internalization	IDA	biological_process
GO:0005102	receptor binding	IPI	molecular_function
GO:0005102	receptor binding	IPI	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005179	hormone activity	IDA	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0006879	cellular iron ion homeost asis	IDA	biological_process
GO:0006879	cellular iron ion homeost asis	IDA	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0010039	response to iron ion	IMP	biological_process
GO:0032413	negative regulation of io n transmembrane transport er activity	IDA	biological_process
GO:0042742	defense response to bacte rium	IBA	biological_process
GO:0060586	multicellular organismal iron ion homeostasis	IMP	biological_process
GO:0097690	iron channel inhibitor ac tivity	IDA	molecular_function
GO:1902916	positive regulation of pr otein polyubiquitination	IDA	biological_process
GO:1904039	negative regulation of fe rrous iron export	IDA	biological_process
GO:1904255	negative regulation of ir on channel activity	IDA	biological_process
GO:1904479	negative regulation of in testinal absorption	IMP	biological_process
GO:2000646	positive regulation of re ceptor catabolic process	IDA	biological_process

Diseases

Associated diseases	References
Endometriosis	PMID: 26137768
Hemochromatosis	PMID: 17847004, OMIM: 606464, KEGG: H00211
Endometriosis	INFBASE26137768

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26137768	Endometrio sis			53 (women with endometriosis ( EM), a control group)	Female infertility		Show abstract