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Cytochrome c oxidase subunit I

Cytochrome c oxidase I (COX1) also known as mitochondrially encoded cytochrome c oxidase I (MT-CO1) is a protein that is encoded by the MT-CO1 gene in eukaryotes. The gene is also called COX1, CO1, or COI. Cytochrome c oxidase I is the main subunit of the cytochrome c oxidase complex. In humans, mutations in MT-CO1 have been associated with Leber's hereditary optic neuropathy (LHON), acquired idiopathic sideroblastic anemia, Complex IV deficiency, colorectal cancer, sensorineural deafness, and recurrent myoglobinuria.

Structure
In humans, the MT-CO1 gene is located from nucleotide pairs 5904 to 7444 on the guanine-rich heavy (H) section of mtDNA. The gene product is a 57 kDa protein composed of 513 amino acids. == Function ==
Function
Cytochrome c oxidase subunit I (CO1 or MT-CO1) is one of three mitochondrial DNA (mtDNA) encoded subunits (MT-CO1, MT-CO2, MT-CO3) of cytochrome c oxidase, also known as complex IV. Cytochrome c oxidase () is a key enzyme in aerobic metabolism. It is the third and final enzyme of the electron transport chain of mitochondrial oxidative phosphorylation. Some terminal oxidases generate a transmembrane proton gradient across the plasma membrane (prokaryotes) or the mitochondrial inner membrane (eukaryotes). The enzyme complex consists of 3-4 subunits (prokaryotes) up to 13 polypeptides (mammals) of which only the catalytic subunit (equivalent to mammalian subunit I (COI)) is found in all heme-copper respiratory oxidases. The presence of a bimetallic centre (formed by a high-spin heme and copper B) as well as a low-spin heme, both ligated to six conserved histidine residues near the outer side of four transmembrane spans within COI is common to all family members. In contrast to eukaryotes the respiratory chain of prokaryotes is branched to multiple terminal oxidases. The enzyme complexes vary in heme and copper composition, substrate type and substrate affinity. The different respiratory oxidases allow the cells to customize their respiratory systems according to a variety of environmental growth conditions. == Clinical significance ==
Clinical significance
Mutations in this gene in humans are associated with Leber's hereditary optic neuropathy (LHON), acquired idiopathic sideroblastic anemia, Complex IV deficiency, colorectal cancer, sensorineural deafness, and recurrent myoglobinuria. == Subfamilies ==
Use in DNA barcoding
MT-CO1 is a gene that is often used as a DNA barcode to identify animal species. The MT-CO1 gene sequence is suitable for this role because its mutation rate is generally fast enough to distinguish closely related species and also because its sequence is conserved among conspecifics. Contrary to the primary objection raised by skeptics that MT-CO1 sequence differences are too small to be detected between closely related species, more than 2% sequence divergence is typically detected between closely related animal species, suggesting that the barcode is effective for most animals. In most if not all seed plants, however, the rate of evolution of MT-CO1 is very slow. It has also been suggested that MT-CO1 may be a better gene for DNA barcoding of soil fungi than ITS (the genetic region most commonly used for mycological barcoding). == MT-COI (= CCOI) in colonic crypts ==
MT-COI (= CCOI) in colonic crypts
) within four tissue sections. The cells have been stained by immunohistochemistry to show a brown-orange color if the cells produce the mitochondrial protein cytochrome c oxidase subunit I (CCOI, synonym for MT-COI), and the nuclei of the cells (located at the outer edges of the cells lining the walls of the crypts) are stained blue-gray with haematoxylin. Panels A, B were cut across the long axes of the crypts and panels C, D were cut parallel to the long axes of the crypts. In panel A the bar shows 100 μm and allows an estimate of the frequency of crypts in the colonic epithelium. Panel B includes three crypts in cross-section, each with one segment deficient for MT-COI expression and at least one crypt, on the right side, undergoing fission into two crypts. Panel C shows, on the left side, a crypt fissioning into two crypts. Panel D shows typical small clusters of two and three MT-COI deficient crypts (the bar shows 50 μm). The images were made from original photomicrographs, but panels A, B and D were also included in an article and illustrations were published with Creative Commons Attribution-Noncommercial License allowing re-use. The MT-COI protein, also known as CCOI, is usually expressed at a high level in the cytoplasm of colonic crypts of the human large intestine (colon). However, MT-COI is frequently lost in colonic crypts with age in humans and is also often absent in field defects that give rise to colon cancers as well as in portions of colon cancers. showed that deficiencies of MT-COI in colonic crypts are due to mutations in the MT-COI gene. As seen in panel B, a portion of the stem cells of three crypts appear to have a mutation in MT-COI, so that 40% to 50% of the cells arising from those stem cells form a white segment in the cross-cut area. In humans, the percent of colonic crypts deficient for MT-COI is less than 1% before age 40, but then increases linearly with age. Based on these measurements, crypts have between 1725 and 2530 cells. Another report gave a range of 1500 to 4900 cells per colonic crypt. The occurrence of frequent crypts with almost complete loss of MT-COI in their 1700 to 5,000 cells suggests a process of natural selection. However, it has also been shown that a deficiency throughout a particular crypt due to an initial mitochondrial DNA mutation may occasionally occur through a stochastic process. Nevertheless, the frequent occurrence of MT-COI deficiency in many crypts within a colon epithelium indicates that absence of MT-COI likely provides a selective advantage. MT-COI is coded for by the mitochondrial chromosome. There are multiple copies of the chromosome in most mitochondria, usually between 2 and 6 per mitochondrion. If a mutation occurs in MT-COI in one chromosome of a mitochondrion, there may be random segregation of the chromosomes during mitochondrial fission to generate new mitochondria. This can give rise to a mitochondrion with primarily or solely MT-COI-mutated chromosomes. A mitochondrion with largely MT-COI-mutated chromosomes would need to have a positive selection bias in order to frequently become the main type of mitochondrion in a cell (a cell with MT-COI-deficient homoplasmy). There are about 100 to 700 mitochondria per cell, depending on cell type. and in mice is about 2 days. In humans it is likely that the half life of mitochondria is also a matter of days to weeks. A stem cell at the base of a colonic crypt that was largely MT-COI-deficient may compete with the other 4 or 5 stem cells to take over the stem cell niche. If this occurs, then the colonic crypt would be deficient in MT-COI in all 1700 to 5,000 cells, as is indicated for some crypts in panels A, B and D of the image. Crypts of the colon can reproduce by fission, as seen in panel C, where a crypt is fissioning to form two crypts, and in panel B where at least one crypt appears to be fissioning. Most crypts deficient in MT-COI are in clusters of crypts (clones of crypts) with two or more MT-COI-deficient crypts adjacent to each other (see panel D). These two factors may contribute to the frequent occurrence of MT-COI-deficient colonic crypts with age or during carcinogenesis in the human colon. == Interactions ==
Interactions
Within the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase) complex, the encoded protein interacts with COA3 and SMIM20/MITRAC7. This interaction with SMIM20 stabilizes the newly synthesized MT-CO1 and prevents its premature turnover. Additionally, it interacts with TMEM177 in a COX20-dependent manner. == References ==
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