Human Gene FECH (ENST00000262093.11) from GENCODE V44
Description: Homo sapiens ferrochelatase (FECH), transcript variant 5, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001374778) RefSeq Summary (NM_000140): 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. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000262093.11 Gencode Gene: ENSG00000066926.13 Transcript (Including UTRs) Position: hg38 chr18:57,544,377-57,586,702 Size: 42,326 Total Exon Count: 11 Strand: - Coding Region Position: hg38 chr18:57,550,712-57,586,620 Size: 35,909 Coding Exon Count: 11
ID:HEMH_HUMAN DESCRIPTION: RecName: Full=Ferrochelatase, mitochondrial; EC=4.99.1.1; AltName: Full=Heme synthase; AltName: Full=Protoheme ferro-lyase; Flags: Precursor; FUNCTION: Catalyzes the ferrous insertion into protoporphyrin IX. CATALYTIC ACTIVITY: Protoheme + 2 H(+) = protoporphyrin + Fe(2+). COFACTOR: Binds 1 2Fe-2S cluster. ENZYME REGULATION: Inhibited by nitric oxide (NO). The 2Fe-2S cluster could act as a NO sensor. PATHWAY: Porphyrin metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step 1/1. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. DISEASE: Defects in FECH are the cause of erythropoietic protoporphyria (EPP) [MIM:177000]. 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. EPP is a form of porphyria 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. SIMILARITY: Belongs to the ferrochelatase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FECH"; WEB RESOURCE: Name=Wikipedia; Note=Ferrochelatase entry; URL="http://en.wikipedia.org/wiki/Ferrochelatase";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P22830
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006091 generation of precursor metabolites and energy GO:0006779 porphyrin-containing compound biosynthetic process GO:0006783 heme biosynthetic process GO:0009416 response to light stimulus GO:0010038 response to metal ion 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:0051597 response to methylmercury GO:0070541 response to platinum ion GO:0071549 cellular response to dexamethasone stimulus
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