Property Summary

NCBI Gene PubMed Count 84
PubMed Score 504.98
PubTator Score 464.51

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
astrocytic glioma -1.200 4.9e-02
psoriasis 1.300 1.0e-03
osteosarcoma -3.218 5.5e-05
pancreatic ductal adenocarcinoma liver m... -1.315 6.6e-04
lung cancer 2.400 3.7e-03
cystic fibrosis -1.200 7.3e-05
group 3 medulloblastoma 1.100 3.3e-03
Pick disease -1.500 5.2e-05
ovarian cancer -1.800 2.7e-12
pituitary cancer 1.200 6.2e-03
sarcoidosis 1.100 4.1e-02

Protein-protein Interaction (11)

Gene RIF (47)

PMID Text
26789144 a novel mutation, c.84G >A, in the FECH gene in four individuals with Erythropoietic Protoporphyria, is reported.
25414439 High ferrochelatase expression is associated with growth of malarial parasites in erythropoietic protoporphyria patients.
24680888 of ASO-V1 into developing human erythroblasts from an overtly EPP subject markedly increased the production of WT FECH mRNA and reduced the accumulation of PPIX to a level similar to that measured in asymptomatic EPP subjects
23600449 Sequence analysis of the FECH gene identified a novel missense mutation in exon 4 (c.418>A, G140R) of the FECH gene, as well as the common FECH IVS3-48 polymorphism in erythropoietic protoporphyria.
23446439 Molecular dynamic simulations provided insight into the conformational movements and function of the active site residues of human ferrochelatase.
23364466 Loss-of-function FECH and gain-of-function erythroid-specific ALAS2 mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
22712763 function of solvent-filled channels in human ferrochelatase
22190034 HIV-1 Pol is identified to have a physical interaction with ferrochelatase (FECH) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
21659066 Erythropoietic protoporphyria patients and their mother revealed heterozygosity for a novel mutation (c.1052delA) in FECH gene of both children, and heterozygosity for the hypomorphic allele IVS3-48T>C in all of them.
21132468 role of IVS3-48C allele in erythropoietic protoporphyria
20966079 analysis of the inhibitory metal ion-binding site in ferrochelatase
20877624 Observational study of gene-disease association. (HuGE Navigator)
20850938 More than 96% of unrelated EPP patients have ferrochelatase deficiency (MIM 177000). Inheritance of a common hypomorphic IVS3-48C FECH allele trans to a deleterious FECH mutation reduces FECH activity below a critical threshold. Review.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20337824 A novel homoallelic missense mutation (p.Ser318Tyr) was identified in the FECH gene in erythropoietic protoporphyria and palmar keratoderma
19965627 the stability of newly formed ferrochelatase protein was dramatically decreased during iron deficiency
19888946 A novel splicing FECH mutation in a Chinese erythropoietic protoporphyria family is believed to be responsible for generating the phenotypic symptoms in this family.
19767646 analysis of ion selectivity and substrate inhibition in the metal ion chelation catalyzed by human ferrochelatase
19703464 The findings show that at least in the cases of Mn, Pb, Cd, and Hg, metal "inhibition" of ferrochelatase occurs after metal insertion and results from poor or diminished product release.
19691493 ferrochelatase localizes to both the mitochondrial outer and inner membranes, and the change in the equilibrium position of the forward and reverse activities may be regulated by the phosphorylation of ferrochelatase
19657351 analysis of skin ferrochelatase and photosensitivity in mice and man
19656459 Sequencing of the ferrochelatase gene did not show a mutation in any of the patients studied. Furthermore, the hypomorphic allele IVS3-48C was absent in all individuals.
19656458 The mutation analysis in the FECH gene identified different genotypes with the t/t genotype, 7 with the t/M genotype, 14 with the c/t genotype and 10 with c/M genotype from different EPP families.
18787536 analysis of FECH mutations in patients with seasonal palmar keratoderma in erythropoietic protoporphyria
18758989 Report ferrochelatase functional variants resulting in erythropoietic protoporphyria in an Ashkenazi Jewish family.
18160121 a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.
17884090 Data shows ferrochelatase undergoes significant changes in secondary structure during the catalytic cycle.
17875872 most cases of EPP result from the coinheritance of IVS3-48C and a mutation in the FECH gene, and also document the existence of patients with mutations in homozygosity that may present a more severe form of the disease.
17875605 show that in malignant tissue a transcriptional down-regulation of FECH occurs, which causes endogenous protoporphyrin-IX accumulation
17723290 mutation associated with erythropoietic protoporphyria in Chinese family
17597821 large deletions of the FECH gene are an important cause of erythropoietic protoporphyria
17567154 It was found that in the H263C and H341C variants, but not the F337A variant enzymes, the side chains of N75, M76, R164, H263, F337, H341, and E343 are oriented in a fashion similar to what is found in ferrochelatase with the bound porphyrin substrate
17566985 results highlight a novel, profilin2-dependent pathway, regulating synaptic physiology, neuronal excitability, and complex behavior
17261801 Substrate is bound deep within an enclosed pocket, and the binding sites with protoporphyrin IX are mapped in detail.
17196862 Mutations and a low-expressed allele IVS3-48c (in trans to the mutation) of the ferrochelatase (FECH) gene are responsible for erythropoietic protoporphyria (EPP) which is characterized clinically by cutaneous photosensitivity.
16844398 These data suggest that the first 62 amino acids of ferrochelatase allow targeting to mitochondria but do not contain sufficient information for efficient processing of the protein.
16819399 Patients with erythropoietic protoporphyria usually have a mutation in 1 Ferrochelatase allele that alters enzyme structure/function, together with a polymorphism in the nonmutant allele that causes low gene expression.
16385445 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
16385445 A common single-nucleotide polymorphism of FECH gene contributes to the genetic predisposition for erythropoietic protoporphyria.
15850836 mutation in promoter affects binding of a transcription factor and causes erythropoietic protoporphyria phenotype
15831704 data for 12 ferrochelatase wild-type/EPP mutant heterodimers show that some mutations result in heterodimers with the residual activity anticipated, whereas others result in heterodimers with significantly lower activity than would be predicted
15286165 Identification of autosomal recessive FECH mutations in erythropoietic protoporphyria patients with higher risk of severe liver disease in the United Kingdom.
15123683 analysis of frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis
15046047 Mutation in ferrochelatase is associated with erythropoietic porphyria.
14669009 Modulation of penetrance by the wild-type allele in dominantly inherited erythrohepatic and acute hepatic porphyrias was studied using FECH.
11929053 Data indicate a significant genotype-phenotype correlation between "null allele" mutation and protoporphyrin related liver disease in erythropoietic protoporphyria.
11929052 Mutations in the FECH gene could not account the development of liver disease in the severe phenotype of erythropoietic protoporphyria(EPP).

AA Sequence

MRSLGANMAAALRAAGVLLRDPLASSSWRVCQPWRWKSGAAAAAVTTETAQHAQGAKPQVQPQKRKPKTG      1 - 70
ILMLNMGGPETLGDVHDFLLRLFLDRDLMTLPIQNKLAPFIAKRRTPKIQEQYRRIGGGSPIKIWTSKQG     71 - 140
EGMVKLLDELSPNTAPHKYYIGFRYVHPLTEEAIEEMERDGLERAIAFTQYPQYSCSTTGSSLNAIYRYY    141 - 210
NQVGRKPTMKWSTIDRWPTHHLLIQCFADHILKELDHFPLEKRSEVVILFSAHSLPMSVVNRGDPYPQEV    211 - 280
SATVQKVMERLEYCNPYRLVWQSKVGPMPWLGPQTDESIKGLCERGRKNILLVPIAFTSDHIETLYELDI    281 - 350
EYSQVLAKECGVENIRRAESLNGNPLFSKALADLVHSHIQSNELCSKQLTLSCPLCVNPVCRETKSFFTS    351 - 420
QQL                                                                       421 - 423
//

Text Mined References (86)

PMID Year Title
27599036 2016 A Novel Role for Progesterone Receptor Membrane Component 1 (PGRMC1): A Partner and Regulator of Ferrochelatase.
26789144 2015 A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25414439 2015 Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.
24680888 2014 Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23600449 2013 New mutation identified in two sisters with adult-onset erythropoietic protoporphyria.
23446439 2013 Investigation by MD simulation of the key residues related to substrate-binding and heme-release in human ferrochelatase.
23364466 2013 Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
22712763 2012 Identification and characterization of solvent-filled channels in human ferrochelatase.
21659066 Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.
21269460 2011 Initial characterization of the human central proteome.
21132468 2010 The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria.
20966079 2010 Identification and characterization of an inhibitory metal ion-binding site in ferrochelatase.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20850938 2010 [Inheritance in erythropoietic protoporphyria].
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20337824 2010 A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
19965627 2010 Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.
19888946 2010 A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria.
19767646 2009 Metal ion selectivity and substrate inhibition in the metal ion chelation catalyzed by human ferrochelatase.
19703464 2009 Product release rather than chelation determines metal specificity for ferrochelatase.
19691493 2009 Dual mitochondrial localization and different roles of the reversible reaction of mammalian ferrochelatase.
19657351 2010 Skin ferrochelatase and photosensitivity in mice and man.
19656459 2009 Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma.
19656458 2009 Variations in the length of poly-C and poly-T tracts in intron 3 of the human ferrochelatase gene.
18787536 2009 Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
18758989 2008 Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
18160121 2008 Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.
17884090 2007 A pi-helix switch selective for porphyrin deprotonation and product release in human ferrochelatase.
17875872 2007 Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.
17875605 2008 Silencing of human ferrochelatase causes abundant protoporphyrin-IX accumulation in colon cancer.
17723290 2007 A novel mutation of the FECH gene in a Chinese family with erythropoietic protoporphyria.
17597821 2007 Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
17567154 2007 Altered orientation of active site residues in variants of human ferrochelatase. Evidence for a hydrogen bond network involved in catalysis.
17566985 2007 Direct measurement of metal ion chelation in the active site of human ferrochelatase.
17261801 2007 Substrate interactions with human ferrochelatase.
17196862 2007 Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.
16844398 2006 Erythropoietic protoporphyria: a functional analysis of the leader sequence of human ferrochelatase.
16819399 2006 Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
16385445 2006 Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15850836 2005 A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria.
15831704 2005 Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.
15574461 2005 Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15286165 2004 Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease.
15123683 2004 Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis.
15046047 2004 Human gene mutations. Gene symbol: FECH. Disease: Porphyria, erythropoietic.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14669009 2004 Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
12601550 2003 Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.
12480705 2003 Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12139757 2002 Erythroid 5-aminolevulinate synthase, ferrochelatase and DMT1 expression in erythroid progenitors: differential pathways for erythropoietin and iron-dependent regulation.
12081474 2002 Binding of protoporphyrin IX and metal derivatives to the active site of wild-type mouse ferrochelatase at low porphyrin-to-protein ratios.
12063482 2002 Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.
11929053 2002 A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.
11929052 2002 Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.
11375302 2001 New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.
11175906 2001 The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis.
10942404 2000 Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.
9740232 1998 Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.
9712849 1998 Evidence that the fourth ligand to the [2Fe-2S] cluster in animal ferrochelatase is a cysteine. Characterization of the enzyme from Drosophila melanogaster.
9649563 1998 Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.
9585598 1998 Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
9211198 1997 Erythropoietic protoporphyria.
8973195 1996 Site-directed mutagenesis and spectroscopic characterization of human ferrochelatase: identification of residues coordinating the [2Fe-2S] cluster.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8757534 1996 A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria.
8500787 1993 Molecular defect in human erythropoietic protoporphyria with fatal liver failure.
8481408 1993 A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.
8276824 1994 Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7983009 1994 A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene.
7910885 1994 Recessive inheritance of erythropoietic protoporphyria with liver failure.
7629135 1995 Effect of cellular location on the function of ferrochelatase.
3940245 1986 Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect.
3047929 1988 The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria.
2340297 1990 Inhibition of human lymphocyte ferrochelatase activity by hemin.
2260980 1990 Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase.
1755842 1991 Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
1729699 1992 The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.
1376018 1992 A molecular defect in human protoporphyria.
1184741 1975 Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts.
180343 1976 Steroids and the practical aspects of performing binding studies.