• Gene id: 57817

Gene Summary

• Gene Symbol: HAMP   Gene   UCSC   Ensembl
• Aliases: HEPC, HFE2B, LEAP1, PLTR
• Gene name: hepcidin antimicrobial peptide
• Alternate names: hepcidin, hepcidin preproprotein, liver-expressed antimicrobial peptide 1, putative liver tumor regressor,
• Gene location: 19q13.12 (35282527: 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 p
• OMIM: 606095

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: 9408
  • 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  
  • PDB: 1M4E 1M4F 2KEF 3H0T 4QAE
  • PDBsum: 1M4E 1M4F 2KEF 3H0T 4QAE
  • STRING: ENSP00000471894
• Other Databases: GeneCards:  HAMP  Malacards:  HAMP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006879	cellular iron ion homeostasis	IDA	biological process
GO:0034760	negative regulation of iron ion transmembrane transport	IBA	biological process
GO:0006879	cellular iron ion homeostasis	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0042742	defense response to bacterium	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0050832	defense response to fungus	IEA	biological process
GO:0031640	killing of cells of other organism	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0042742	defense response to bacterium	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0014704	intercalated disc	IEA	cellular component
GO:0036017	response to erythropoietin	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071481	cellular response to X-ray	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006953	acute-phase response	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0045179	apical cortex	IEA	cellular component
GO:0061051	positive regulation of cell growth involved in cardiac muscle cell development	IEA	biological process
GO:0071354	cellular response to interleukin-6	IEA	biological process
GO:0097421	liver regeneration	IEA	biological process
GO:1903413	cellular response to bile acid	IEA	biological process
GO:1990641	response to iron ion starvation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:1904479	negative regulation of intestinal absorption	IMP	biological process
GO:0010039	response to iron ion	IMP	biological process
GO:0060586	multicellular organismal iron ion homeostasis	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0005576	extracellular region	NAS	cellular component
GO:0006955	immune response	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Hemochromatosis	KEGG:H00211
Hemochromatosis	KEGG:H00211
Non-alcoholic fatty liver disease	PMID:28051796
Primary biliary cirrhosis	PMID:19652645
Beta thalassemia	PMID:23905873
Hemochromatosis	PMID:12469120
Anemia	PMID:22689680
congestive heart failure	PMID:21080339
hepatocellular carcinoma	PMID:29235098
hepatocellular carcinoma	PMID:29235098
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R