Calcium uptake protein 1
From Proteopedia
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When it is not linked to Ca2+ it has an hexameric conformation. In this conformation MICU 1 silences the activity of MCU/EMRE and stop the Ca 2+ from entering the mitochondria by blocking the entrance of the channel. | When it is not linked to Ca2+ it has an hexameric conformation. In this conformation MICU 1 silences the activity of MCU/EMRE and stop the Ca 2+ from entering the mitochondria by blocking the entrance of the channel. | ||
When there is a lot of calcium in the intermembrane so in the cytoplasm, Ca2+ binds to MICU1, then it changes its conformation, separates into multiple homooligomers that results in opens the “gate” in front of the MCU channel, letting the calcium enter into the matrix. | When there is a lot of calcium in the intermembrane so in the cytoplasm, Ca2+ binds to MICU1, then it changes its conformation, separates into multiple homooligomers that results in opens the “gate” in front of the MCU channel, letting the calcium enter into the matrix. | ||
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| - | == Disease == | ||
| - | If MICU1 gene is modified, Ca2+ can be load in higher concentration in the mitochondry resulting Myopathy with extrapyramidal signs (MPXPS). This is an autosomal recessive disorder characterized by early-onset proximal muscle weakness with a static course and moderately to grossly elevated serum creatine kinase levels accompanied by learning difficulties. Most patients develop subtle extrapyramidal motor signs that progress to a debilitating disorder of involuntary movement with variable features, including chorea, tremor, dystonic posturing and orofacial dyskinesia. Additional variable features include ataxia, microcephaly, ophthalmoplegia, ptosis, optic atrophy and axonal peripheral neuropathy. | ||
== Structural highlights == | == Structural highlights == | ||
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:- Polybasic region : it’s a domain which permits protein-protein interactions | :- Polybasic region : it’s a domain which permits protein-protein interactions | ||
:- <scene name='72/723172/Ef_domains/1'>EF-hand domains</scene> There are 2 of them. They are the most important domains in MICU1 protein because they contain the Ca2+ binding region and detect the concentration of calcium in the cell for activation of signalling. An EF-hand domain is a calcium sensor. An EF-hand domain is a helix loop helix structural domain that means that it is 2 alpha helices linked by a short loop region. Ca2+ ions are coordinated in this space thanks to ligands within the loop : in EF-1 residues concerning are Asp231, Asn233, Asp235, Glu237 and Glu242 and in EF-2 they are Asp421, Asp423, Asn425, Glu427 and Glu432. When Ca2+ binds itself to this domain, the protein changes its conformation to expose a domain that can interact with other proteins. | :- <scene name='72/723172/Ef_domains/1'>EF-hand domains</scene> There are 2 of them. They are the most important domains in MICU1 protein because they contain the Ca2+ binding region and detect the concentration of calcium in the cell for activation of signalling. An EF-hand domain is a calcium sensor. An EF-hand domain is a helix loop helix structural domain that means that it is 2 alpha helices linked by a short loop region. Ca2+ ions are coordinated in this space thanks to ligands within the loop : in EF-1 residues concerning are Asp231, Asn233, Asp235, Glu237 and Glu242 and in EF-2 they are Asp421, Asp423, Asn425, Glu427 and Glu432. When Ca2+ binds itself to this domain, the protein changes its conformation to expose a domain that can interact with other proteins. | ||
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| + | == Disease == | ||
| + | If MICU1 gene is modified, Ca2+ can be load in higher concentration in the mitochondry resulting Myopathy with extrapyramidal signs (MPXPS). This is an autosomal recessive disorder characterized by early-onset proximal muscle weakness with a static course and moderately to grossly elevated serum creatine kinase levels accompanied by learning difficulties. Most patients develop subtle extrapyramidal motor signs that progress to a debilitating disorder of involuntary movement with variable features, including chorea, tremor, dystonic posturing and orofacial dyskinesia. Additional variable features include ataxia, microcephaly, ophthalmoplegia, ptosis, optic atrophy and axonal peripheral neuropathy. | ||
== See Also == | == See Also == | ||
Revision as of 15:57, 28 January 2016
Structure
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