• Gene id: 2235

Gene Summary

• Gene Symbol: FECH   Gene   UCSC   Ensembl
• Aliases: EPP, EPP1, FCE
• Gene name: ferrochelatase
• Alternate names: ferrochelatase, mitochondrial, heme synthase, heme synthetase, protoheme ferro-lyase, protoporphyria,
• Gene location: 18q21.31 (57586707: 57544376)     Exons: 12     NC_000018.10
• Gene summary(Entrez): The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria
• OMIM: 612386

Protein Summary

• Protein general information: P22830  
  • Name: Ferrochelatase, mitochondrial (EC 4.99.1.1) (Heme synthase) (Protoheme ferro lyase)
  • Length: 423  
  • Mass: 47862
• Sequence:

  MRSLGANMAAALRAAGVLLRDPLASSSWRVCQPWRWKSGAAAAAVTTETAQHAQGAKPQVQPQKRKPKTGILMLN
  MGGPETLGDVHDFLLRLFLDRDLMTLPIQNKLAPFIAKRRTPKIQEQYRRIGGGSPIKIWTSKQGEGMVKLLDEL
  SPNTAPHKYYIGFRYVHPLTEEAIEEMERDGLERAIAFTQYPQYSCSTTGSSLNAIYRYYNQVGRKPTMKWSTID
  RWPTHHLLIQCFADHILKELDHFPLEKRSEVVILFSAHSLPMSVVNRGDPYPQEVSATVQKVMERLEYCNPYRLV
  WQSKVGPMPWLGPQTDESIKGLCERGRKNILLVPIAFTSDHIETLYELDIEYSQVLAKECGVENIRRAESLNGNP
  LFSKALADLVHSHIQSNELCSKQLTLSCPLCVNPVCRETKSFFTSQQL

• Structural information:
  • Interpro: IPR001015  IPR019772  IPR033644  IPR033659  
  • Prosite: PS00534
  • CDD: cd00419 cd03411
  • PDB: 1HRK 2HRC 2HRE 2PNJ 2PO5 2PO7 2QD1 2QD2 2QD3 2QD4 2QD5 3AQI 3HCN 3HCO 3HCP 3HCR 3W1W 4F4D 4KLA 4KLC 4KLR 4KMM 4MK4
  • PDBsum: 1HRK 2HRC 2HRE 2PNJ 2PO5 2PO7 2QD1 2QD2 2QD3 2QD4 2QD5 3AQI 3HCN 3HCO 3HCP 3HCR 3W1W 4F4D 4KLA 4KLC 4KLR 4KMM 4MK4
  • DIP: 39632
  • STRING: ENSP00000372326
• Other Databases: GeneCards:  FECH  Malacards:  FECH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004325	ferrochelatase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0006783	heme biosynthetic process	IBA	biological process
GO:0006783	heme biosynthetic process	IDA	biological process
GO:0004325	ferrochelatase activity	IDA	molecular function
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0004325	ferrochelatase activity	IEA	molecular function
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0006779	porphyrin-containing compound biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004325	ferrochelatase activity	TAS	molecular function
GO:0008198	ferrous iron binding	TAS	molecular function
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0009416	response to light stimulus	TAS	biological process
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0004325	ferrochelatase activity	IEA	molecular function
GO:0004325	ferrochelatase activity	IDA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045471	response to ethanol	IEA	biological process
GO:0017085	response to insecticide	IEA	biological process
GO:0010288	response to lead ion	IEA	biological process
GO:0071549	cellular response to dexamethasone stimulus	IEA	biological process
GO:0070541	response to platinum ion	IEA	biological process
GO:0051597	response to methylmercury	IEA	biological process
GO:0046685	response to arsenic-containing substance	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0010038	response to metal ion	IEA	biological process
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004325	ferrochelatase activity	IEA	molecular function
GO:0004325	ferrochelatase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046501	protoporphyrinogen IX metabolic process	IDA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00860	Porphyrin and chlorophyll metabolism

Diseases

Associated diseases	References
Porphyria	KEGG:H01763
Erythropoietic porphyria	KEGG:H00201
Porphyria	KEGG:H01763
Erythropoietic porphyria	KEGG:H00201
erythropoietic protoporphyria	PMID:10942404
cutaneous porphyria	PMID:8601739
colon adenocarcinoma	PMID:28075030
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)