COX6B1: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
'''Cytochrome c oxidase subunit 6B1''' is an [[enzyme]] that in humans is encoded by the ''COX6B1'' [[gene]].<ref name="pmid1650756">{{cite journal | vauthors = Taanman JW, van der Veen AY, Schrage C, de Vries H, Buys CH | title = Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation | journal = Human Genetics | volume = 87 | issue = 3 | pages = 325–7 | date = Jul 1991 | pmid = 1650756 | pmc =  | doi = 10.1007/bf00200913 }}</ref> Cytochrome ''c'' oxidase 6B1 is a subunit of the cytochrome ''c'' oxidase complex, also known as [[Complex IV]], the last enzyme in the [[mitochondrion|mitochondrial]] [[electron transport chain]]. Mutations of the COX6B1 gene are associated with severe infantile [[encephalomyopathy]] and mitochondrial complex IV deficiency (MT-C4D).<ref name="entrez">{{cite web | title = Entrez Gene: COX6B1 cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1340| accessdate = }}</ref>
'''Cytochrome c oxidase subunit 6B1''' is an [[enzyme]] that in humans is encoded by the ''COX6B1'' [[gene]].<ref name="pmid1650756">{{cite journal | vauthors = Taanman JW, van der Veen AY, Schrage C, de Vries H, Buys CH | title = Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation | journal = Human Genetics | volume = 87 | issue = 3 | pages = 325–7 | date = July 1991 | pmid = 1650756 | pmc =  | doi = 10.1007/bf00200913 }}</ref> Cytochrome ''c'' oxidase 6B1 is a subunit of the cytochrome ''c'' oxidase complex, also known as [[Complex IV]], the last enzyme in the [[mitochondrion|mitochondrial]] [[electron transport chain]]. Mutations of the COX6B1 gene are associated with severe infantile [[encephalomyopathy]] and mitochondrial complex IV deficiency (MT-C4D).<ref name="entrez">{{cite web | title = Entrez Gene: COX6B1 cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1340| access-date = }}</ref>


== Structure ==
== Structure ==


The COX6B1 gene, located on the q arm of [[chromosome 19]] in position 13.1, contains 4 [[exons]] and is 10,562 [[base pairs]] in length.<ref name="entrez" /> The COX6B1 protein weighs 10 kDa and is composed of 86 amino acids.<ref name=COPaKB>{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = Oct 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}</ref><ref name="url_COPaKB">{{cite web | url = http://www.heartproteome.org/copa/ProteinInfo.aspx?QType=Protein%20ID&QValue=P14854 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = Cytochrome c oxidase subunit 6B1 }}</ref> The protein is a subunit of [[Complex IV]], a heteromeric complex consisting of 3 catalytic subunits encoded by [[mitochondrion|mitochondrial]] genes and multiple structural subunits encoded by nuclear genes.<ref name="entrez" />
The COX6B1 gene, located on the q arm of [[chromosome 19]] in position 13.1, contains 4 [[exons]] and is 10,562 [[base pairs]] in length.<ref name="entrez" /> The COX6B1 protein weighs 10 kDa and is composed of 86 amino acids.<ref name=COPaKB>{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = October 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}</ref><ref name="url_COPaKB">{{cite web | url = https://amino.heartproteome.org/web/protein/P14854 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = Cytochrome c oxidase subunit 6B1 }}</ref> The protein is a subunit of [[Complex IV]], a heteromeric complex consisting of 3 catalytic subunits encoded by [[mitochondrion|mitochondrial]] genes, and multiple structural subunits encoded by nuclear genes.<ref name="entrez" />


== Function ==
== Function ==
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== Clinical significance ==
== Clinical significance ==


Mutations affecting the COX6B1 gene are associated with mitochondrial complex IV deficiency (MT-C4D), a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated [[myopathy]] to severe multisystem disease affecting several tissues and organs. Features include [[hypertrophic]] [[cardiomyopathy]], [[hepatomegaly]] and [[liver dysfunction]], [[hypotonia]], muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest [[Leigh's syndrome]].<ref>{{cite web|title=COX6B1|url=http://ghr.nlm.nih.gov/gene/COX6B1|website=Genetics Home Reference|publisher=U.S. National Library of Medicine|accessdate=3 April 2015}}</ref>
Mutations affecting the ''COX6B1'' gene are associated with mitochondrial complex IV deficiency (MT-C4D), a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated [[myopathy]] to severe multisystem disease affecting several tissues and organs. Features include [[hypertrophic]] [[cardiomyopathy]], [[hepatomegaly]] and [[liver dysfunction]], [[hypotonia]], [[muscle weakness]], [[exercise intolerance]], [[developmental delay]], [[delayed motor development]], and [[Intellectual disability|mental retardation]]. Some affected individuals manifest a fatal [[hypertrophic cardiomyopathy]] resulting in neonatal death. A subset of patients manifest [[Leigh's syndrome]].<ref>{{cite web|title=COX6B1|url=http://ghr.nlm.nih.gov/gene/COX6B1|website=Genetics Home Reference|publisher=U.S. National Library of Medicine|access-date=3 April 2015}}</ref> A ''COX6B1'' R20C [[missense mutation]] has been linked to complex IV deficiency with [[Encephalopathy|encephalomyopathy]], [[hydrocephalus]], and hypertrophic cardiomyopathy.<ref>{{cite journal | vauthors = Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A | title = Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy | journal = European Journal of Human Genetics | volume = 23 | issue = 2 | pages = 159–64 | date = February 2015 | pmid = 24781756 | pmc = 4297913 | doi = 10.1038/ejhg.2014.85 }}</ref>
 
== Interactions ==
COX6B1 has been shown to have 548 binary [[Protein–protein interaction|protein-protein interactions]] including 547 co-complex interactions.<ref>{{cite web | url = https://www.ebi.ac.uk/intact/interactions?conversationContext=3&query=COX6B1 | title = 548 binary interactions found for search term COX6B1 | work = IntAct Molecular Interaction Database | publisher = EMBL-EBI | access-date = 2018-08-25 }}</ref>


== References ==
== References ==
Line 22: Line 25:
== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Taanman JW, Schrage C, Bokma E, Reuvekamp P, Agsteribbe E, De Vries H | title = Nucleotide sequence of the last exon of the gene for human cytochrome c oxidase subunit VIb and its flanking regions | journal = Biochimica et Biophysica Acta | volume = 1089 | issue = 2 | pages = 283–5 | date = Jun 1991 | pmid = 1647217 | doi = 10.1016/0167-4781(91)90027-J }}
* {{cite journal | vauthors = Taanman JW, Schrage C, Bokma E, Reuvekamp P, Agsteribbe E, De Vries H | title = Nucleotide sequence of the last exon of the gene for human cytochrome c oxidase subunit VIb and its flanking regions | journal = Biochimica et Biophysica Acta | volume = 1089 | issue = 2 | pages = 283–5 | date = June 1991 | pmid = 1647217 | doi = 10.1016/0167-4781(91)90027-J }}
* {{cite journal | vauthors = Carrero-Valenzuela RD, Quan F, Lightowlers R, Kennaway NG, Litt M, Forte M | title = Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family | journal = Gene | volume = 102 | issue = 2 | pages = 229–36 | date = Jun 1991 | pmid = 1651883 | doi = 10.1016/0378-1119(91)90082-M }}
* {{cite journal | vauthors = Carrero-Valenzuela RD, Quan F, Lightowlers R, Kennaway NG, Litt M, Forte M | title = Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family | journal = Gene | volume = 102 | issue = 2 | pages = 229–36 | date = June 1991 | pmid = 1651883 | doi = 10.1016/0378-1119(91)90082-M }}
* {{cite journal | vauthors = Taanman JW, Schrage C, Ponne NJ, Das AT, Bolhuis PA, de Vries H, Agsteribbe E | title = Isolation of cDNAs encoding subunit VIb of cytochrome c oxidase and steady-state levels of coxVIb mRNA in different tissues | journal = Gene | volume = 93 | issue = 2 | pages = 285–91 | date = Sep 1990 | pmid = 2172092 | doi = 10.1016/0378-1119(90)90237-L }}
* {{cite journal | vauthors = Taanman JW, Schrage C, Ponne NJ, Das AT, Bolhuis PA, de Vries H, Agsteribbe E | title = Isolation of cDNAs encoding subunit VIb of cytochrome c oxidase and steady-state levels of coxVIb mRNA in different tissues | journal = Gene | volume = 93 | issue = 2 | pages = 285–91 | date = September 1990 | pmid = 2172092 | doi = 10.1016/0378-1119(90)90237-L }}
* {{cite journal | vauthors = Taanman JW, Schrage C, Ponne N, Bolhuis P, de Vries H, Agsteribbe E | title = Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase | journal = Nucleic Acids Research | volume = 17 | issue = 4 | pages = 1766 | date = Feb 1989 | pmid = 2537962 | pmc = 331842 | doi = 10.1093/nar/17.4.1766 }}
* {{cite journal | vauthors = Taanman JW, Schrage C, Ponne N, Bolhuis P, de Vries H, Agsteribbe E | title = Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase | journal = Nucleic Acids Research | volume = 17 | issue = 4 | pages = 1766 | date = February 1989 | pmid = 2537962 | pmc = 331842 | doi = 10.1093/nar/17.4.1766 }}
* {{cite journal | vauthors = Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N, Yokoyama-Kobayashi M, Aoki T | title = Construction of a human full-length cDNA bank | journal = Gene | volume = 150 | issue = 2 | pages = 243–50 | date = Dec 1994 | pmid = 7821789 | doi = 10.1016/0378-1119(94)90433-2 }}
* {{cite journal | vauthors = Schmidt TR, Goodman M, Grossman LI | title = Amino acid replacement is rapid in primates for the mature polypeptides of COX subunits, but not for their targeting presequences | journal = Gene | volume = 286 | issue = 1 | pages = 13–9 | date = March 2002 | pmid = 11943455 | doi = 10.1016/S0378-1119(01)00800-9 }}
* {{cite journal | vauthors = Schmidt TR, Goodman M, Grossman LI | title = Amino acid replacement is rapid in primates for the mature polypeptides of COX subunits, but not for their targeting presequences | journal = Gene | volume = 286 | issue = 1 | pages = 13–9 | date = Mar 2002 | pmid = 11943455 | doi = 10.1016/S0378-1119(01)00800-9 }}
* {{cite journal | vauthors = Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D | title = Large-scale mapping of human protein-protein interactions by mass spectrometry | journal = Molecular Systems Biology | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }}
* {{cite journal | vauthors = Sirchia R, Luparello C | title = Mid-region parathyroid hormone-related protein (PTHrP) and gene expression of MDA-MB231 breast cancer cells | journal = Biological Chemistry | volume = 388 | issue = 5 | pages = 457–65 | date = May 2007 | pmid = 17516841 | doi = 10.1515/BC.2007.059 }}
* {{cite journal | vauthors = Sirchia R, Luparello C | title = Mid-region parathyroid hormone-related protein (PTHrP) and gene expression of MDA-MB231 breast cancer cells | journal = Biological Chemistry | volume = 388 | issue = 5 | pages = 457–65 | date = May 2007 | pmid = 17516841 | doi = 10.1515/BC.2007.059 }}
{{refend}}
{{refend}}

Latest revision as of 21:38, 28 August 2018

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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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Wikidata
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Cytochrome c oxidase subunit 6B1 is an enzyme that in humans is encoded by the COX6B1 gene.[1] Cytochrome c oxidase 6B1 is a subunit of the cytochrome c oxidase complex, also known as Complex IV, the last enzyme in the mitochondrial electron transport chain. Mutations of the COX6B1 gene are associated with severe infantile encephalomyopathy and mitochondrial complex IV deficiency (MT-C4D).[2]

Structure

The COX6B1 gene, located on the q arm of chromosome 19 in position 13.1, contains 4 exons and is 10,562 base pairs in length.[2] The COX6B1 protein weighs 10 kDa and is composed of 86 amino acids.[3][4] The protein is a subunit of Complex IV, a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes.[2]

Function

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively.[2]

Summary reaction:

4 Fe2+-cytochrome c + 8 H+in + O2 → 4 Fe3+-cytochrome c + 2 H2O + 4 H+out[5]

Clinical significance

Mutations affecting the COX6B1 gene are associated with mitochondrial complex IV deficiency (MT-C4D), a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development, and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh's syndrome.[6] A COX6B1 R20C missense mutation has been linked to complex IV deficiency with encephalomyopathy, hydrocephalus, and hypertrophic cardiomyopathy.[7]

Interactions

COX6B1 has been shown to have 548 binary protein-protein interactions including 547 co-complex interactions.[8]

References

  1. ↑ Taanman JW, van der Veen AY, Schrage C, de Vries H, Buys CH (July 1991). "Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation". Human Genetics. 87 (3): 325–7. doi:10.1007/bf00200913. PMID 1650756.
  2. ↑ 2.0 2.1 2.2 2.3 "Entrez Gene: COX6B1 cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)".
  3. ↑ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  4. ↑ "Cytochrome c oxidase subunit 6B1". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
  5. ↑ Voet D, Voet JG, Pratt CW (2013). "Chapter 18". Fundamentals of biochemistry: life at the molecular level (4th ed.). Hoboken, NJ: Wiley. pp. 581–620. ISBN 978-0-470-54784-7.
  6. ↑ "COX6B1". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 3 April 2015.
  7. ↑ Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A (February 2015). "Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy". European Journal of Human Genetics. 23 (2): 159–64. doi:10.1038/ejhg.2014.85. PMC 4297913. PMID 24781756.
  8. ↑ "548 binary interactions found for search term COX6B1". IntAct Molecular Interaction Database. EMBL-EBI. Retrieved 2018-08-25.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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