Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Hamp. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. 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, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Hamp
  • participates in the following biological processes:
    • cellular iron ion homeostasis ^[1]
    • defense response to bacterium ^[2]
    • defense response to fungus ^[3]
  • is located in the following cellular components:
    • extracellular region ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Hamp:
  • participates in the following biological processes:
    • cellular iron ion homeostasis
  • is located in the following cellular components:
    • apical cortex
    • cytoplasm

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Hamp indicates that it:
  • performs the following molecular functions:
    • hormone activity

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References

1. Nicolas G et al. (2001) Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A, 98:8780-5. (PubMed:11447267)
2. Park CH et al. (2001) Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem, 276:7806-10. (PubMed:11113131)
3. Venta PJ et al. (1985) Structure and exon to protein domain relationships of the mouse carbonic anhydrase II gene. J Biol Chem, 260:12130-5. (PubMed:2995362)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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