ATP5G3

ATP5MC3
Identifiers
Aliases	ATP5MC3 , P3, ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9), ATP synthase membrane subunit c locus 3, ATP5G3, DYTSPG
External IDs	OMIM: 602736 MGI: 2442035 HomoloGene: 133873 GeneCards: ATP5MC3
Gene location (Human)
Chr.	Chromosome 2 (human)
End	175,181,710 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	73,741,670 bp
RNA expression pattern
	Top expressed in
	right ventricle; ; body of tongue; ; renal medulla; ; pons; ; vena cava; ; thoracic diaphragm; ; atrium; ; jejunum; ; human penis; ; duodenum;
	Top expressed in
	myocardium of ventricle; ; atrioventricular valve; ; endocardial cushion; ; digastric muscle; ; extraocular muscle; ; thoracic diaphragm; ; cardiac muscles; ; renal corpuscle; ; atrium; ; medial vestibular nucleus;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	transporter activity ; proton transmembrane transporter activity ; lipid binding ; proton-transporting ATP synthase activity, rotational mechanism ;
Cellular component	integral component of membrane ; proton-transporting two-sector ATPase complex, proton-transporting domain ; mitochondrial proton-transporting ATP synthase complex ; membrane ; mitochondrial membrane ; mitochondrial outer membrane ; mitochondrion ; proton-transporting ATP synthase complex, coupling factor F(o) ; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) ;
Biological process	ion transport ; ATP biosynthetic process ; ATP synthesis coupled proton transport ; cristae formation ; mitochondrial ATP synthesis coupled proton transport ;
	Sources:Amigo / QuickGO
Orthologs
	518
	228033
	ENSG00000154518
	ENSMUSG00000018770
	P48201
	P56384
	NM_001689 ; NM_001002258 ; NM_001190329 ; NM_001002256
	NM_001301721 ; NM_001301722 ; NM_175015
	NP_001002258 ; NP_001177258 ; NP_001680
	NP_001288650 ; NP_001288651 ; NP_778180
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated March 04, 2023

The ATP5MC3 gene is one of three human paralogs that encode membrane subunit c of the mitochondrial ATP synthase.^[5]^[6]

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified.^[6]

Related Research Articles

ATP synthase is a protein that catalyzes the formation of the energy storage molecule adenosine triphosphate (ATP) using adenosine diphosphate (ADP) and inorganic phosphate (P_i). ATP synthase is a molecular machine. The overall reaction catalyzed by ATP synthase is:

MT-ATP8 is a mitochondrial gene with the full name 'mitochondrially encoded ATP synthase membrane subunit 8' that encodes a subunit of mitochondrial ATP synthase, ATP synthase F_o subunit 8. This subunit belongs to the F_o complex of the large, transmembrane F-type ATP synthase. This enzyme, which is also known as complex V, is responsible for the final step of oxidative phosphorylation in the electron transport chain. Specifically, one segment of ATP synthase allows positively charged ions, called protons, to flow across a specialized membrane inside mitochondria. Another segment of the enzyme uses the energy created by this proton flow to convert a molecule called adenosine diphosphate (ADP) to ATP. Subunit 8 differs in sequence between Metazoa, plants and Fungi.

MT-ATP6 is a mitochondrial gene with the full name 'mitochondrially encoded ATP synthase membrane subunit 6' that encodes the ATP synthase F_o subunit 6. This subunit belongs to the F_o complex of the large, transmembrane F-type ATP synthase. This enzyme, which is also known as complex V, is responsible for the final step of oxidative phosphorylation in the electron transport chain. Specifically, one segment of ATP synthase allows positively charged ions, called protons, to flow across a specialized membrane inside mitochondria. Another segment of the enzyme uses the energy created by this proton flow to convert a molecule called adenosine diphosphate (ADP) to ATP. Mutations in the MT-ATP6 gene have been found in approximately 10 to 20 percent of people with Leigh syndrome.

Cytochrome c oxidase subunit III (COX3) is an enzyme that in humans is encoded by the MT-CO3 gene. It is one of main transmembrane subunits of cytochrome c oxidase. It is also one of the three mitochondrial DNA (mtDNA) encoded subunits of respiratory complex IV. Variants of it have been associated with isolated myopathy, severe encephalomyopathy, Leber hereditary optic neuropathy, mitochondrial complex IV deficiency, and recurrent myoglobinuria.

ATP synthase F1 subunit beta, mitochondrial is an enzyme that in humans is encoded by the ATP5F1B gene.

ATP synthase F1 subunit alpha, mitochondrial is an enzyme that in humans is encoded by the ATP5F1A gene.

ATP synthase-coupling factor 6, mitochondrial is an enzyme subunit that in humans is encoded by the ATP5PF gene.

The ATP5MC1 gene is one of three human paralogs that encode membrane subunit c of the mitochondrial ATP synthase.

The ATP5MF gene encodes the ATP synthase subunit f, mitochondrial enzyme in humans.

ATP synthase subunit g, mitochondrial is an enzyme that in humans is encoded by the ATP5MG gene.

The human ATP5F1C gene encodes the gamma subunit of an enzyme called mitochondrial ATP synthase.

ATP synthase subunit b, mitochondrial is an enzyme that in humans is encoded by the ATP5PB gene.

ATP synthase subunit s, mitochondrial is an enzyme that in humans is encoded by the ATP5S gene.

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 is an enzyme that in humans is encoded by the NDUFA5 gene. The NDUFA5 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.

The ATP5MC2 gene is one of three human paralogs that encode membrane subunit c of the mitochondrial ATP synthase.

ATP synthase subunit e, mitochondrial is an enzyme that in humans is encoded by the ATP5ME gene.

The human gene ATP5PD encodes subunit d of the peripheral stalk part of the enzyme mitochondrial ATP synthase.

ATP synthase subunit delta, mitochondrial, also known as ATP synthase F1 subunit delta or F-ATPase delta subunit is an enzyme that in humans is encoded by the ATP5F1D gene. This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation.

ATP synthase F1 subunit epsilon, mitochondrial is an enzyme that in humans is encoded by the ATP5F1E gene. The protein encoded by ATP5F1E is a subunit of ATP synthase, also known as Complex V. Variations of this gene have been associated with mitochondrial complex V deficiency, nuclear 3 (MC5DN3) and Papillary Thyroid Cancer.

ATP synthase subunit O, mitochondrial is an enzyme that in humans is encoded by the ATP5PO gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000154518 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000018770 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Yan WL, Lerner TJ, Haines JL, Gusella JF (May 1995). "Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3)". Genomics. 24 (2): 375–7. doi:10.1006/geno.1994.1631. PMID 7698763.
1 2 "Entrez Gene: ATP synthase membrane subunit c locus 3".

External links

Human ATP5MC3 genome location and ATP5MC3 gene details page in the UCSC Genome Browser .

Farrell LB, Nagley P (1987). "Human liver cDNA clones encoding proteolipid subunit 9 of the mitochondrial ATPase complex". Biochem. Biophys. Res. Commun. 144 (3): 1257–64. doi:10.1016/0006-291X(87)91446-X. PMID 2883974.
Dyer MR, Walker JE (1993). "Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase". Biochem. J. 293 (1): 51–64. doi:10.1042/bj2930051. PMC 1134319 . PMID 8328972.
Elston T, Wang H, Oster G (1998). "Energy transduction in ATP synthase". Nature. 391 (6666): 510–3. Bibcode:1998Natur.391..510E. doi:10.1038/35185. PMID 9461222. S2CID 4406161.
Wang H, Oster G (1998). "Energy transduction in the F1 motor of ATP synthase". Nature. 396 (6708): 279–82. Bibcode:1998Natur.396..279W. doi:10.1038/24409. PMID 9834036. S2CID 4424498.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Lehner B, Semple JI, Brown SE, et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID 14667819.
Cross RL (2004). "Molecular motors: turning the ATP motor". Nature. 427 (6973): 407–8. Bibcode:2004Natur.427..407C. doi: 10.1038/427407b . PMID 14749816. S2CID 52819856.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi: 10.1038/nature03466 . PMID 15815621.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000154518 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000018770 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7698763-5] Yan WL, Lerner TJ, Haines JL, Gusella JF (May 1995). "Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3)". Genomics. 24 (2): 375–7. doi:10.1006/geno.1994.1631. PMID 7698763.

[entrez-6] 1 2 "Entrez Gene: ATP synthase membrane subunit c locus 3".

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ATP5G3

Contents

Related Research Articles

References

External links

Further reading