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

Quick Facts ATP5MC3, Identifiers ...

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; OMA:ATP5MC3 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q31.1 Start 175,176,258 bp[1] End 175,181,710 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 C3 Start 73,738,791 bp[2] End 73,741,670 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right ventricle myocardium of left ventricle body of tongue renal medulla pons apex of heart vena cava thoracic diaphragm mucosa of transverse colon atrium 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 BioGPS 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 membranes 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 Species Human Mouse Entrez 518 228033 Ensembl ENSG00000154518 ENSMUSG00000018770 UniProt P48201 P56384 RefSeq (mRNA) NM_001689 NM_001002258 NM_001190329 NM_001002256 NM_001301721 NM_001301722 NM_175015 RefSeq (protein) NP_001002258 NP_001177258 NP_001680 NP_001288650 NP_001288651 NP_778180 Location (UCSC) Chr 2: 175.18 – 175.18 Mb Chr 2: 73.74 – 73.74 Mb PubMed search [3] [4]
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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]