Structural highlights
23pg is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
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| Method: | Electron Microscopy, Resolution 2.87Å |
| Ligands: | ADP, CL, GSH, MG, VO4 |
| Resources: | FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT |
Disease
ABCB7_HUMAN X-linked sideroblastic anemia and spinocerebellar ataxia. The disease is caused by variants affecting the gene represented in this entry.
Function
ABCB7_HUMAN Exports glutathione-coordinated iron-sulfur clusters such as [2Fe-2S]-(GS)4 cluster from the mitochondria to the cytosol in an ATP-dependent manner allowing the assembly of the cytosolic iron-sulfur (Fe/S) cluster-containing proteins and participates in iron homeostasis (PubMed:10196363, PubMed:17192393, PubMed:33157103). Moreover, through a functional complex formed of ABCB7, FECH and ABCB10, also plays a role in the cellular iron homeostasis, mitochondrial function and heme biosynthesis (PubMed:30765471). In cardiomyocytes, regulates cellular iron homeostasis and cellular reactive oxygen species (ROS) levels through its interaction with COX4I1 (By similarity). May also play a role in hematopoiesis (By similarity).[UniProtKB:Q61102][UniProtKB:Q704E8][1] [2] [3] [4]
References
- ↑ Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet. 1999 May;8(5):743-9. doi: 10.1093/hmg/8.5.743. PMID:10196363 doi:https://dx.doi.org/10.1093/hmg/8.5.743
- ↑ Cavadini P, Biasiotto G, Poli M, Levi S, Verardi R, Zanella I, Derosas M, Ingrassia R, Corrado M, Arosio P. RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload. Blood. 2007 Apr 15;109(8):3552-9. doi: 10.1182/blood-2006-08-041632. Epub 2006 , Dec 27. PMID:17192393 doi:https://dx.doi.org/10.1182/blood-2006-08-041632
- ↑ Maio N, Kim KS, Holmes-Hampton G, Singh A, Rouault TA. Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis. Haematologica. 2019 Sep;104(9):1756-1767. doi: 10.3324/haematol.2018.214320. Epub , 2019 Feb 14. PMID:30765471 doi:https://dx.doi.org/10.3324/haematol.2018.214320
- ↑ Pearson SA, Cowan JA. Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)(4) cluster exporter and the molecular mechanism of an E433K disease-causing mutation. Arch Biochem Biophys. 2021 Jan 15;697:108661. PMID:33157103 doi:10.1016/j.abb.2020.108661
