FECH (ferrochelatase)

2016-10-01  

Identity

HGNC
LOCATION
18q21.31
LOCUSID
ALIAS
EPP,EPP1,FCE
FUSION GENES

Other Information

Locus ID:

NCBI: 2235
MIM: 612386
HGNC: 3647
Ensembl: ENSG00000066926

Variants:

dbSNP: 2235
ClinVar: 2235
TCGA: ENSG00000066926
COSMIC: FECH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066926ENST00000262093P22830
ENSG00000066926ENST00000382873A0A499FJN5
ENSG00000066926ENST00000585494K7EJM8
ENSG00000066926ENST00000591977K7EJX5
ENSG00000066926ENST00000592699K7ELX4
ENSG00000066926ENST00000652755P22830

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Porphyrin and chlorophyll metabolismKEGGko00860
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of porphyrinsREACTOMER-HSA-189445
Heme biosynthesisREACTOMER-HSA-189451

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
151236832004Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
199656272010Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.38
163854452006Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.35
163854452006Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.35
172618012007Substrate interactions with human ferrochelatase.35
178840902007A pi-helix switch selective for porphyrin deprotonation and product release in human ferrochelatase.26
178756052008Silencing of human ferrochelatase causes abundant protoporphyrin-IX accumulation in colon cancer.22
197034642009Product release rather than chelation determines metal specificity for ferrochelatase.18
175669852007Direct measurement of metal ion chelation in the active site of human ferrochelatase.17

Citation

Dessen P

FECH (ferrochelatase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56011/fech