USMG5

Last updated
ATP5MK
Identifiers
Aliases ATP5MK , DAPIT, HCVFTP2, bA792D24.4, up-regulated during skeletal muscle growth 5 homolog (mouse), USMG5, ATP synthase membrane subunit DAPIT, MC5DN6, AGP, ATP5MD, ATP synthase membrane subunit k
External IDs OMIM: 615204 MGI: 1891435 HomoloGene: 11331 GeneCards: ATP5MK
Orthologs
SpeciesHumanMouse
Entrez

84833

66477

Ensembl

ENSG00000173915

ENSMUSG00000071528

UniProt

Q96IX5

Q78IK2

RefSeq (mRNA)

NM_032747
NM_001206426
NM_001206427

NM_023211

RefSeq (protein)

NP_001193355
NP_001193356
NP_116136

NP_075700

Location (UCSC) Chr 10: 103.39 – 103.4 Mb Chr 19: 47.07 – 47.08 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Up-regulated during skeletal muscle growth protein 5 (USMG5), also known as ATP synthase membrane subunit DAPIT (ATP5MD), Diabetes-associated protein in insulin-sensitive tissues, or HCV F-transactivated protein 2 is a protein that in humans is encoded by the USMG5 gene. [5] [6] [7]

Contents

Structure

The USMG5 gene is located on the q arm of chromosome 10 at position 24.33 and it spans 7,463 base pairs. [5] The USMG5 gene produces a 6.46 kDa protein composed of 58 amino acids. [8] [9] USMG5 is a small subunit of the mitochondrial ATP synthase (complex V), as well as the lysosomal V-ATPase. [10] The protein is associated with the ATP synthase in a stoichiometric manner. [11] The structure of the protein contains a putative transmembrane segment and a single presumed α-helix that spans from amino acid 23 to 45. The structure has been found to be similar to its putative yeast ortholog. [12]

Function

The human USMG5 gene codes for a protein with a role in maintaining and regulating the ATP synthase population in the mitochondria. [6] [7] [12] The protein is responsible for several minor roles that are expendable for the core function of complex V. [11] A knockdown of the protein has been shown to lead to reduced ATP synthesis rate and CV dimer expression, while the wild type has been shown to boost the dimerization of complex V as well as enhance the ATP synthesis rate. [13]

Clinical Significance

Mutations in USMG5 has been found to result in mitochondrial deficiencies and associated disorders of the mitochondrial ATP synthase (complex V). Homozygous splice-site mutations (c.87 + 1G>C) in the Ashkenazi Jewish population have been associated with cases of leigh syndrome caused by the decrease of Complex V dimerization and ATP synthesis. Leigh syndrome is a heterogeneous mitochondrial oxidative phosphorylation (OXPHOS) disease that is characterized by psychomotor retardation and necrotizing lesions in the brain. [13]

Interactions

USMG5 is a component of the ATP synthase complex, and has co-complex interactions with ATP5F1, ATP5MC1, TP5F1E, ATP5H, ATP5ME, ATP5J, ATP5J2, and others. [6] [7]

Related Research Articles

<span class="mw-page-title-main">AMP-activated protein kinase</span> Class of enzymes

5' AMP-activated protein kinase or AMPK or 5' adenosine monophosphate-activated protein kinase is an enzyme that plays a role in cellular energy homeostasis, largely to activate glucose and fatty acid uptake and oxidation when cellular energy is low. It belongs to a highly conserved eukaryotic protein family and its orthologues are SNF1 in yeast, and SnRK1 in plants. It consists of three proteins (subunits) that together make a functional enzyme, conserved from yeast to humans. It is expressed in a number of tissues, including the liver, brain, and skeletal muscle. In response to binding AMP and ADP, the net effect of AMPK activation is stimulation of hepatic fatty acid oxidation, ketogenesis, stimulation of skeletal muscle fatty acid oxidation and glucose uptake, inhibition of cholesterol synthesis, lipogenesis, and triglyceride synthesis, inhibition of adipocyte lipogenesis, inhibition of adipocyte lipolysis, and modulation of insulin secretion by pancreatic β-cells.

<span class="mw-page-title-main">MT-ATP8</span> Mitochondrial protein-coding gene whose product is involved in ATP synthesis

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 Fo subunit 8. This subunit belongs to the Fo 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.

<span class="mw-page-title-main">MT-ATP6</span> Mitochondrial protein-coding gene whose product is involved in ATP synthesis

MT-ATP6 is a mitochondrial gene with the full name 'mitochondrially encoded ATP synthase membrane subunit 6' that encodes the ATP synthase Fo subunit 6. This subunit belongs to the Fo 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.

<span class="mw-page-title-main">ATP5B</span> Protein-coding gene in humans

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

<span class="mw-page-title-main">ATP5F1A</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">ATP5PF</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">ATP5C1</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">ATP5F1</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">ATP5S</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">SUCLA2</span> Protein-coding gene in the species Homo sapiens

Succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2), also known as ADP-forming succinyl-CoA synthetase (SCS-A), is an enzyme that in humans is encoded by the SUCLA2 gene on chromosome 13.

<span class="mw-page-title-main">ATP5H</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">ATP5D</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">COX6A1</span> Protein-coding gene in the species Homo sapiens

Cytochrome c oxidase subunit 6A1, mitochondrial is a protein that in humans is encoded by the COX6A1 gene. Cytochrome c oxidase 6A1 is a subunit of the cytochrome c oxidase complex, also known as Complex IV, the last enzyme in the mitochondrial electron transport chain. A mutation of the COX6A1 gene is associated with a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

<span class="mw-page-title-main">ATP5E</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">ATP5G3</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">FOXRED1</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">UQCRC2</span> Protein-coding gene in the species Homo sapiens

Cytochrome b-c1 complex subunit 2, mitochondrial (UQCRC2), also known as QCR2, UQCR2, or MC3DN5 is a protein that in humans is encoded by the UQCRC2 gene. The product of UQCRC2 is a subunit of the respiratory chain protein Ubiquinol Cytochrome c Reductase, which consists of the products of one mitochondrially encoded gene, MTCYTB and ten nuclear genes: UQCRC1, UQCRC2, Cytochrome c1, UQCRFS1, UQCRB, "11kDa protein", UQCRH, Rieske Protein presequence, "cyt. c1 associated protein", and "Rieske-associated protein." Defects in UQCRC2 are associated with mitochondrial complex III deficiency, nuclear, type 5.

<span class="mw-page-title-main">ATPAF2</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">COX15</span> Protein-coding gene in the species Homo sapiens

Cytochrome c oxidase assembly protein COX15 homolog (COX15), also known as heme A synthase, is a protein that in humans is encoded by the COX15 gene. This protein localizes to the inner mitochondrial membrane and involved in heme A biosynthesis. COX15 is also part of a three-component mono-oxygenase that catalyses the hydroxylation of the methyl group at position eight of the protoheme molecule. Mutations in this gene has been reported in patients with hypertrophic cardiomyopathy as well as Leigh syndrome, and characterized by delayed onset of symptoms, hypotonia, feeding difficulties, failure to thrive, motor regression, and brain stem signs.

<span class="mw-page-title-main">TMEM70</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 70 is a protein that in humans is encoded by the TMEM70 gene. It is a transmembrane protein located in the mitochondrial inner membrane involved in the assembly of the F1 and Fo structural subunits of ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalo-cardiomyopathy due to ATP synthase deficiency, causing a wide variety of symptoms including 3-methylglutaconic aciduria, lactic acidosis, mitochondrial myopathy, and cardiomyopathy.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000173915 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000071528 - 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.
  5. 1 2 "Entrez Gene: ATP synthase membrane subunit DAPIT" . Retrieved 2018-08-14.PD-icon.svg This article incorporates text from this source, which is in the public domain .
  6. 1 2 3 "USMG5 - Up-regulated during skeletal muscle growth protein 5 - Homo sapiens (Human) - USMG5 gene & protein" . Retrieved 2018-08-07. CC BY icon-80x15.png  This article incorporates text available under the CC BY 4.0 license.
  7. 1 2 3 "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC   5210571 . PMID   27899622.
  8. ↑ 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 (Oct 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.
  9. ↑ "Up-regulated during skeletal muscle growth protein 5". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 2018-08-15. Retrieved 2018-08-14.
  10. ↑ Kontro, H; Hulmi, JJ; Rahkila, P; Kainulainen, H (22 May 2012). "Cellular and tissue expression of DAPIT, a phylogenetically conserved peptide". European Journal of Histochemistry. 56 (2): e18. doi:10.4081/ejh.2012.18. PMC   3428967 . PMID   22688299.
  11. 1 2 Ohsakaya S, Fujikawa M, Hisabori T, Yoshida M (June 2011). "Knockdown of DAPIT (diabetes-associated protein in insulin-sensitive tissue) results in loss of ATP synthase in mitochondria". J. Biol. Chem. 286 (23): 20292–6. doi: 10.1074/jbc.M110.198523 . PMC   3121504 . PMID   21345788.
  12. 1 2 Kontro H, Hulmi JJ, Rahkila P, Kainulainen H (May 2012). "Cellular and tissue expression of DAPIT, a phylogenetically conserved peptide". Eur J Histochem. 56 (2): e18. doi:10.4081/ejh.2012.18. PMC   3428967 . PMID   22688299.
  13. 1 2 Barca, E; Ganetzky, RD; Potluri, P; Juanola-Falgarona, M; Gai, X; Li, D; Jalas, C; Hirsch, Y; Emmanuele, V; Tadesse, S; Ziosi, M; Akman, HO; Chung, WK; Tanji, K; McCormick, E; Place, E; Consugar, M; Pierce, EA; Hakonarson, H; Wallace, DC; Hirano, M; Falk, MJ (18 June 2018). "USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis". Human Molecular Genetics. 27 (19): 3305–3312. doi:10.1093/hmg/ddy231. PMC   6140788 . PMID   29917077.

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