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

GO curators for mouse genes have assigned the following annotations to the gene product of Hfe. (This text reflects annotations as of Tuesday, May 21, 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 protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

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

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Hfe
  • participates in the following biological processes:
    • hormone biosynthetic process ^[2]
    • iron ion homeostasis ^[2]
    • iron ion import into cell ^[1]
    • multicellular organismal iron ion homeostasis ^[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 Hfe:
  • participates in the following biological processes:
    • iron ion import into cell
  • performs the following molecular functions:
    • receptor binding
  • is located in the following cellular components:
    • apical part of cell
    • basal part of cell
    • cytoplasmic vesicle
    • early endosome
    • perinuclear region of cytoplasm
    • recycling endosome

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Summary text based on GO annotations supported by structural data

• Hfe encodes a protein or proteins that contain the following InterPro domains: Immunoglobulin C1-set, Immunoglobulin-like domain, Immunoglobulin-like fold, Immunoglobulin/major histocompatibility complex, conserved site, MHC class I, alpha chain, alpha1/alpha2, MHC class I-like antigen recognition, MHC classes I/II-like antigen recognition protein, indicating that the gene product:
  • participates in the following biological processes:
    • antigen processing and presentation
    • immune response
  • is located in the following cellular components:
    • membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Hfe indicates that it:
  • participates in the following biological processes:
    • antigen processing and presentation of peptide antigen via MHC class I
  • is located in the following cellular components:
    • integral to membrane
    • membrane
    • MHC class I protein complex

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References

1. Fleming RE et al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. Proc Natl Acad Sci U S A, 96:3143-8. (PubMed:10077651)
2. Makui H et al. (2005) Contribution of Hfe expression in macrophages to the regulation of hepatic hepcidin levels and iron loading. Blood, 106:2189-95. (PubMed:15914561)

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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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