ATP5MC1

ATP5MC1
Identifiers
Aliases	ATP5MC1 , ATP5A, ATP5G, ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9), ATP synthase membrane subunit c locus 1, ATP5G1
External IDs	OMIM: 603192; MGI: 107653; HomoloGene: 38017; GeneCards: ATP5MC1; OMA:ATP5MC1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	48,895,871 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	95,966,496 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; mucosa of transverse colon; ; right auricle; ; rectum; ; left ventricle; ; muscle of thigh; ; gastrocnemius muscle; ; body of stomach; ; right frontal lobe; ; prefrontal cortex;
	Top expressed in
	right kidney; ; muscle of thigh; ; blastocyst; ; morula; ; lip; ; superior frontal gyrus; ; yolk sac; ; primary visual cortex; ; dentate gyrus of hippocampal formation granule cell; ; embryo;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	lipid binding ; transporter activity ; proton transmembrane transporter activity ; protein binding ; proton-transporting ATP synthase activity, rotational mechanism ;
Cellular component	proton-transporting ATP synthase complex, coupling factor F(o) ; membrane ; integral component of membrane ; mitochondrion ; mitochondrial membranes ; proton-transporting two-sector ATPase complex, proton-transporting domain ; mitochondrial proton-transporting ATP synthase complex ; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) ; mitochondrial inner membrane ;
Biological process	ion transport ; ATP biosynthetic process ; ATP synthesis coupled proton transport ; cristae formation ; mitochondrial ATP synthesis coupled proton transport ;
	Sources:Amigo / QuickGO
Orthologs
	516
	11951
	ENSG00000159199
	ENSMUSG00000006057
	P05496
	Q9CR84
	NM_005175 ; NM_001002027
	NM_001161419 ; NM_007506
	NP_001002027 ; NP_005166
	NP_001154891 ; NP_031532
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 13, 2025

The ATP5MC1 gene is one of three human paralogs that encode membrane subunit c of the mitochondrial ATP synthase.^[5]^[6]

Function

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

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.

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

NAD(P) transhydrogenase, mitochondrial is an enzyme that in humans is encoded by the NNT gene on chromosome 5.

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

HIG1 domain family member 1A (HIGD1A), also known as hypoglycemia/hypoxia inducible mitochondrial protein1-a (HIMP1-a) and hypoxia induced gene 1 (HIG1), is a protein that in humans is encoded by the HIGD1A gene on chromosome 3. This protein promotes mitochondrial homeostasis and survival of cells under stress and is involved in inflammatory and hypoxia-related diseases, including atherosclerosis, ischemic heart disease, and Alzheimer's disease, as well as cancer.

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.

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.

39S ribosomal protein L15, mitochondrial is a protein that in humans is encoded by the MRPL15 gene.

39S ribosomal protein L18, mitochondrial is a protein that in humans is encoded by the MRPL18 gene.

NADH dehydrogenase [ubiquinone] 1 subunit C2 is an enzyme that in humans is encoded by the NDUFC2 gene.

The ATP5MC3 gene is one of three human paralogs that encode membrane subunit c of the mitochondrial ATP synthase.

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

FAD-dependent oxidoreductase domain-containing protein 1 (FOXRED1), also known as H17, or FP634 is an enzyme that in humans is encoded by the FOXRED1 gene. FOXRED1 is an oxidoreductase and complex I-specific molecular chaperone involved in the assembly and stabilization of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in FOXRED1 have been associated with Leigh syndrome and infantile-onset mitochondrial encephalopathy.

Mitochondrial import receptor subunit TOM40B is a protein that in humans is encoded by the TOMM40L gene.

ATP synthase mitochondrial F1 complex assembly factor 2 is an enzyme that in humans is encoded by the ATPAF2 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000159199 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006057 – 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.
↑ Dyer MR, Walker JE (Jul 1993). "Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase". The Biochemical Journal. 293 (Pt 1): 51–64. doi:10.1042/bj2930051. PMC 1134319 . PMID 8328972.
1 2 "Entrez Gene: ATP5MC1 ATP synthase membrane subunit c locus 1".

External links

Human ATP5MC1 genome location and ATP5MC1 gene details page in the UCSC Genome Browser .

Farrell LB, Nagley P (May 1987). "Human liver cDNA clones encoding proteolipid subunit 9 of the mitochondrial ATPase complex". Biochemical and Biophysical Research Communications. 144 (3): 1257–64. doi:10.1016/0006-291X(87)91446-X. PMID 2883974.
Yan WL, Lerner TJ, Haines JL, Gusella JF (Nov 1994). "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.
Higuti T, Kawamura Y, Kuroiwa K, Miyazaki S, Tsujita H (Apr 1993). "Molecular cloning and sequence of two cDNAs for human subunit c of H(+)-ATP synthase in mitochondria". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1173 (1): 87–90. doi:10.1016/0167-4781(93)90249-D. PMID 8485160.
Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID 8889548.
Elston T, Wang H, Oster G (Jan 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 (Nov 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.
Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948 . PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072 . PMID 11230166.
Cross RL (Jan 2004). "Molecular motors: turning the ATP motor". Nature. 427 (6973): 407–8. Bibcode:2004Natur.427..407C. doi: 10.1038/427407b . PMID 14749816. S2CID 52819856.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (Oct 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930 . PMID 15489336.
Wang HL, Zhu ZM, Yerle M, Wu X, Wang H, Yang SL, Li K (2005). "Full-length coding sequences and mapping of porcine ATP6VOE and ATP5G1 genes". Cytogenetic and Genome Research. 109 (4): 533. doi: 10.1159/000084223 . PMID 15906478.
Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (Jan 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501 . PMID 16381901.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000159199 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006057 – 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.

[pmid8328972-5] Dyer MR, Walker JE (Jul 1993). "Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase". The Biochemical Journal. 293 (Pt 1): 51–64. doi:10.1042/bj2930051. PMC 1134319 . PMID 8328972.

[entrez-6] 1 2 "Entrez Gene: ATP5MC1 ATP synthase membrane subunit c locus 1".

[1]

[2]

[3]

[4]

[5]

[6]

ATP5MC1

Contents

Function

Related Research Articles

References

External links

Further reading