Property Summary

NCBI Gene PubMed Count 84
Grant Count 129
R01 Count 83
Funding $17,750,503.85
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 0.049
psoriasis 1.300 0.001
osteosarcoma -3.218 0.000
pancreatic ductal adenocarcinoma liver m... -1.315 0.001
lung cancer 2.400 0.004
cystic fibrosis -1.200 0.000
group 3 medulloblastoma 1.100 0.003
Pick disease -1.500 0.000
ovarian cancer -1.800 0.000
pituitary cancer 1.200 0.006
sarcoidosis 1.100 0.041

Synonym

Accession P22830 A8KA72 Q8IXN1 Q8NAN0
Symbols EPP
FCE

Gene

PDB

1HRK   2HRC   2HRE   2PNJ   2PO5   2PO7   2QD1   2QD2   2QD3   2QD4   2QD5   3AQI   3HCN   3HCO   3HCP   3HCR   3W1W   4F4D   4KLA   4KLC   4KLR   4KMM   4MK4  

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
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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.
More...