Homo sapiens Protein: FECH
Summary
InnateDB Protein IDBP-3745.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FECH
Protein Name ferrochelatase
Synonyms EPP; FCE;
Species Homo sapiens
Ensembl Protein ENSP00000262093
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:0005515 protein binding
GO:0008198 ferrous iron 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:0006783 heme biosynthetic process
GO:0009416 response to light stimulus
GO:0044281 small molecule metabolic process
GO:0046501 protoporphyrinogen IX metabolic process
Cellular Component
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_000131
HUGO HGNC:3647
OMIM 612386
CCDS CCDS11964
HPRD 01509
IMGT
EMBL AC100847 AF495859 AF495860 AJ250235 AK092416 AK292937 AK299643 BC039841 BT019958 BX571744 CH471096 D00726 L36178
GenPept AAA64787 AAH39841 AAM18070 AAM18071 AAV38761 BAA00628 BAC03882 BAF85626 BAG61566 CAB65962 CAE11869 EAW63046