InnateDB Protein
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IDBP-3745.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FECH
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Protein Name
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ferrochelatase
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Synonyms
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EPP; FCE;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000262093
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InnateDB Gene
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IDBG-3741 (FECH)
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Protein Structure
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Function |
Catalyzes the ferrous insertion into protoporphyrin IX.
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Subcellular Localization |
Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
19
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001015
Ferrochelatase
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PFAM |
PF00762
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P22830
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PhosphoSite |
PhosphoSite-P22830
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TrEMBL |
Q8TD50
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UniProt Splice Variant |
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Entrez Gene |
2235
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UniGene |
Hs.710934
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RefSeq |
NP_000131
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HUGO |
HGNC:3647
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OMIM |
612386
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CCDS |
CCDS11964
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HPRD |
01509
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IMGT |
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EMBL |
AC100847
AF495859
AF495860
AJ250235
AK092416
AK292937
AK299643
BC039841
BT019958
BX571744
CH471096
D00726
L36178
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GenPept |
AAA64787
AAH39841
AAM18070
AAM18071
AAV38761
BAA00628
BAC03882
BAF85626
BAG61566
CAB65962
CAE11869
EAW63046
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