Entity Details

Primary name HEMH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP22830
EntryNameHEMH_HUMAN
FullNameFerrochelatase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length423
SequenceStatuscomplete
DateCreated1991-08-01
DateModified2021-06-02

Ontological Relatives

GenesFECH

GO terms

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GOName
GO:0004325 ferrochelatase activity
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0006091 generation of precursor metabolites and energy
GO:0006783 heme biosynthetic process
GO:0008198 ferrous iron binding
GO:0009416 response to light stimulus
GO:0010288 response to lead ion
GO:0017085 response to insecticide
GO:0042493 response to drug
GO:0045471 response to ethanol
GO:0046501 protoporphyrinogen IX metabolic process
GO:0046685 response to arsenic-containing substance
GO:0051537 2 iron, 2 sulfur cluster binding
GO:0051597 response to methylmercury
GO:0070541 response to platinum ion
GO:0071549 cellular response to dexamethasone stimulus

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR001015 FerrochelataseFamilyFamily
IPR019772 Ferrochelatase, active siteSiteActive site
IPR033644 Ferrochelatase, C-terminalDomainDomain
IPR033659 Ferrochelatase, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
177000 OMIMProtoporphyria, erythropoietic, 1 (EPP1)An autosomal recessive form of porphyria with onset usually before age 10 years. 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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB02659 Cholic AcidDrugbanksmall molecule