鉄付加酵素
| フェロキラターゼ | |||||||||
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| 識別子 | |||||||||
| 略号 | Ferrochelatase | ||||||||
| Pfam | PF00762 | ||||||||
| InterPro | IPR001015 | ||||||||
| PROSITE | PDOC00462 | ||||||||
| SCOP | 1ak1 | ||||||||
| SUPERFAMILY | 1ak1 | ||||||||
| OPM superfamily | 137 | ||||||||
| OPM protein | 1hrk | ||||||||
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鉄付加酵素（てつふかこうそ、ferrochelatase (FECH)）は、プロトポルフィリンIXをヘムに変換するヘム生合成8段階の最後の反応酵素である。プロトポルフィリンにFe2+を付加する反応を触媒する。触媒反応は、
- プロトポルフィリン + Fe++ ↔ プロトヘム + 2 H+
鉄付加酵素は、497個のアミノ残基で構成され、分子量は55.4 kDaである[1]。
+ Fe2+ ⇔
+ 2H+ プロトポルフィリンIX ヘム
| 鉄付加酵素 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 PDB rendering based on 1hrk. | |||||||||||||
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| 識別記号 | |||||||||||||
| 記号 | FECH; EPP; FCE | ||||||||||||
| その他ID | OMIM: 177000 MGI: 95513 HomoloGene: 113 GeneCards: FECH Gene | ||||||||||||
| EC番号 | 4.99.1.1 | ||||||||||||
| RNA発現パターン | |||||||||||||
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| その他参照発現データ | |||||||||||||
| オルソログ | |||||||||||||
| 種 | ヒト | マウス | |||||||||||
| Entrez | 2235 | 14151 | |||||||||||
| Ensembl | ENSG00000066926 | ENSMUSG00000024588 | |||||||||||
| UniProt | P22830 | Q3UC49 | |||||||||||
| RefSeq (mRNA) | NM_000140 | XM_001000060 | |||||||||||
| RefSeq (protein) | NP_000131 | XP_001000060 | |||||||||||
| Location (UCSC) |
Chr 18: 53.37 - 53.4 Mb |
Chr 18: 64.58 - 64.61 Mb | |||||||||||
| PubMed search | [1] | [2] | |||||||||||
| KEGG GENES | hsa:2235 | mmu:14151 | |||||||||||
鉄付加酵素は、ミトコンドリアに所在し、ヘム生合成においてプロトポルフィリンIXに鉄（Fe2+）を付加する反応を触媒する。鉄付加酵素の欠乏は、骨髄性プロトポルフィリアの発症に関係する。この遺伝について、異なる異性体を記述した2つの転写変異が見つかっている[2]。
脚注
- ^ “Entrez Gene: FECH ferrochelatase (protoporphyria)”. 2010年7月10日閲覧。
- ^ Taketani, Shigeru; Kakimoto Kazuhiro, Ueta Hiromi, Masaki Ryuichi, Furukawa Takako (Apr. 2003). “Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase”. Blood (United States) 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. ISSN 0006-4971. PMID 12480705.
参考文献
*Cox TM (1997). “Erythropoietic protoporphyria.”. J. Inherit. Metab. Dis. 20 (2): 258–69. doi:10.1023/A:1005317124985. PMID 9211198.
- Buller RE, Schrader WT, O'Maller BW (1976). “Steroids and the practical aspects of performing binding studies.”. J. Steroid Biochem. 7 (5): 321–6. doi:10.1016/0022-4731(76)90090-X. PMID 180343.
- Bonkowsky HL, Bloomer JR, Ebert PS, Mahoney MJ (1976). “Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts”. J. Clin. Invest. 56 (5): 1139–48. doi:10.1172/JCI108189. PMC 301976. PMID 1184741.
- Brenner DA, Didier JM, Frasier F et al. (1992). “A molecular defect in human protoporphyria”. Am. J. Hum. Genet. 50 (6): 1203–10. PMC 1682545. PMID 1376018.
- Nakahashi Y, Fujita H, Taketani S et al. (1992). “The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria”. Proc. Natl. Acad. Sci. U.S.A. 89 (1): 281–5. doi:10.1073/pnas.89.1.281. PMC 48220. PMID 1729699.
- Lamoril J, Boulechfar S, de Verneuil H et al. (1992). “Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene”. Biochem. Biophys. Res. Commun. 181 (2): 594–9. doi:10.1016/0006-291X(91)91231-Z. PMID 1755842.
- Diep A, Li C, Klisak I et al. (1992). “Assignment of the gene for cyclic AMP-response element binding protein 2 (CREB2) to human chromosome 2q24.1-q32”. Genomics 11 (4): 1161–3. doi:10.1016/0888-7543(91)90047-I. PMID 1838349.
- Nakahashi Y, Taketani S, Okuda M et al. (1991). “Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase”. Biochem. Biophys. Res. Commun. 173 (2): 748–55. doi:10.1016/S0006-291X(05)80099-3. PMID 2260980.
- Rossi E, Attwood PV, Garcia-Webb P, Costin KA (1990). “Inhibition of human lymphocyte ferrochelatase activity by hemin”. Biochim. Biophys. Acta 1038 (3): 375–81. doi:10.1016/0167-4838(90)90251-A. PMID 2340297.
- Polson RJ, Lim CK, Rolles K et al. (1988). “The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria”. Transplantation 46 (3): 386–9. doi:10.1097/00007890-198809000-00010. PMID 3047929.
- Bonkovsky HL, Schned AR (1986). “Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect”. Gastroenterology 90 (1): 191–201. PMID 3940245.
- Prasad AR, Dailey HA (1995). “Effect of cellular location on the function of ferrochelatase”. J. Biol. Chem. 270 (31): 18198–200. doi:10.1074/jbc.270.31.18198. PMID 7629135.
- Sarkany RP, Alexander GJ, Cox TM (1994). “Recessive inheritance of erythropoietic protoporphyria with liver failure”. Lancet 343 (8910): 1394–6. doi:10.1016/S0140-6736(94)92525-9. PMID 7910885.
- Tugores A, Magness ST, Brenner DA (1995). “A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene”. J. Biol. Chem. 269 (49): 30789–97. PMID 7983009.
- Maruyama K, Sugano S (1994). “Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides”. Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Dailey HA, Sellers VM, Dailey TA (1994). “Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases”. J. Biol. Chem. 269 (1): 390–5. PMID 8276824.
- Wang X, Poh-Fitzpatrick M, Carriero D et al. (1993). “A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing”. Biochim. Biophys. Acta 1181 (2): 198–200. PMID 8481408.
- Nakahashi Y, Miyazaki H, Kadota Y et al. (1993). “Molecular defect in human erythropoietic protoporphyria with fatal liver failure”. Hum. Genet. 91 (4): 303–6. doi:10.1007/BF00217346. PMID 8500787.
- Imoto S, Tanizawa Y, Sato Y et al. (1996). “A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria”. Br. J. Haematol. 94 (1): 191–7. doi:10.1046/j.1365-2141.1996.d01-1771.x. PMID 8757534.
- Crouse BR, Sellers VM, Finnegan MG et al. (1997). “Site-directed mutagenesis and spectroscopic characterization of human ferrochelatase: identification of residues coordinating the [2Fe-2S] cluster”. Biochemistry 35 (50): 16222–9. doi:10.1021/bi9620114. PMID 8973195.