Homo sapiens Protein: FECH
Summary
InnateDB Protein IDBP-3743.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FECH
Protein Name ferrochelatase
Synonyms EPP; FCE;
Species Homo sapiens
Ensembl Protein ENSP00000372326
InnateDB Gene IDBG-3741 (FECH)
Protein Structure
UniProt Annotation
Function Catalyzes the ferrous insertion into protoporphyrin IX.
Subcellular Localization Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
Disease Associations Erythropoietic protoporphyria (EPP) [MIM:177000]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals. {ECO:0000269PubMed:10942404, ECO:0000269PubMed:11375302, ECO:0000269PubMed:12063482, ECO:0000269PubMed:12601550, ECO:0000269PubMed:1376018, ECO:0000269PubMed:15286165, ECO:0000269PubMed:17196862, ECO:0000269PubMed:1755842, ECO:0000269PubMed:7910885, ECO:0000269PubMed:8757534, ECO:0000269PubMed:9585598, ECO:0000269PubMed:9740232}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 19 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004325 ferrochelatase activity
GO:0005506 iron ion binding
GO:0005515 protein binding
GO:0008198 ferrous iron binding
GO:0020037 heme binding
GO:0030350 iron-responsive element binding
GO:0046906 tetrapyrrole binding
GO:0051537 2 iron, 2 sulfur cluster binding
Biological Process
GO:0006091 generation of precursor metabolites and energy
GO:0006778 porphyrin-containing compound metabolic process
GO:0006779 porphyrin-containing compound biosynthetic process
GO:0006783 heme biosynthetic process
GO:0008203 cholesterol metabolic process
GO:0009416 response to light stimulus
GO:0009589 detection of UV
GO:0010038 response to metal ion
GO:0010288 response to lead ion
GO:0010468 regulation of gene expression
GO:0010999 regulation of eIF2 alpha phosphorylation by heme
GO:0017085 response to insecticide
GO:0030218 erythrocyte differentiation
GO:0034379 very-low-density lipoprotein particle assembly
GO:0042493 response to drug
GO:0044281 small molecule metabolic process
GO:0045471 response to ethanol
GO:0046501 protoporphyrinogen IX metabolic process
GO:0046685 response to arsenic-containing substance
GO:0046984 regulation of hemoglobin biosynthetic process
GO:0051597 response to methylmercury
GO:0055072 iron ion homeostasis
GO:0070541 response to platinum ion
GO:0071549 cellular response to dexamethasone stimulus
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR001015 Ferrochelatase
PFAM PF00762
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P22830
PhosphoSite PhosphoSite-P22830
TrEMBL Q8TD50
UniProt Splice Variant
Entrez Gene 2235
UniGene Hs.710934
RefSeq NP_001012533
HUGO HGNC:3647
OMIM 612386
CCDS CCDS32836
HPRD 01509
IMGT
EMBL AC100847 AF495859 AF495860 AJ250235 AK092416 AK292937 AK299643 BC039841 BT019958 CH471096 D00726 L36178
GenPept AAA64787 AAH39841 AAM18070 AAM18071 AAV38761 BAA00628 BAC03882 BAF85626 BAG61566 CAB65962 EAW63046