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Gene Ontology Classifications
Symbol
Name
ID
Fech
ferrochelatase
MGI:95513

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

GO curators for mouse genes have assigned the following annotations to the gene product of Fech. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of June 15, 2009. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
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 localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Bloks V et al. (2001) Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice. J Lipid Res, 42:41-50. (PubMed:11160364)
  2. Boulechfar S et al. (1993) Ferrochelatase structural mutant (Fechm1Pas) in the house mouse. Genomics, 16:645-8. (PubMed:8325637)
  3. Chernova T et al. (2006) Heme deficiency is associated with senescence and causes suppression of N-methyl-D-aspartate receptor subunits expression in primary cortical neurons. Mol Pharmacol, 69:697-705. (PubMed:16306232)
  4. Ferreira GC. (1995) Ferrochelatase binds the iron-responsive element present in the erythroid 5-aminolevulinate synthase mRNA. Biochem Biophys Res Commun, 214:875-8. (PubMed:7575558)
  5. Franco R et al. (2005) Porphyrin-substrate binding to murine ferrochelatase: effect on the thermal stability of the enzyme. Biochem J, 386:599-605. (PubMed:15496139)
  6. Han AP et al. (2005) Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia. J Clin Invest, 115:1562-1570. (PubMed:15931390)
  7. Lyoumi S et al. (2007) Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. Blood, 109:811-8. (PubMed:17003376)
  8. Magness ST et al. (1999) Targeted disruption of the mouse ferrochelatase gene producing an exon 10 deletion. Biochim Biophys Acta, 1453:161-74. (PubMed:9989256)
  9. Magness ST et al. (2002) An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and causes mild protoporphyria. Blood, 100:1470-7. (PubMed:12149233)
  10. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)
  11. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell, 134:112-23. (PubMed:18614015)
  12. Sellers VM et al. (1996) Function of the [2FE-2S] cluster in mammalian ferrochelatase: a possible role as a nitric oxide sensor. Biochemistry, 35:2699-704. (PubMed:8611576)
  13. Shi Z et al. (2004) Probing the active site loop motif of murine ferrochelatase by random mutagenesis. J Biol Chem, 279:19977-86. (PubMed:14981080)
  14. Shi Z et al. (2006) The conserved active-site loop residues of ferrochelatase induce porphyrin conformational changes necessary for catalysis. Biochemistry, 45:2904-12. (PubMed:16503645)
  15. Tutois S et al. (1991) Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. J Clin Invest, 88:1730-6. (PubMed:1939658)
  16. White C et al. (2013) HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis. Cell Metab, 17:261-70. (PubMed:23395172)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


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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last database update
09/02/2014
MGI 5.19
The Jackson Laboratory