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Details on Person UniProt:P48201 ATP5MC3

Class:IdReferenceGeneProduct:50437
_chainChangeLogtransit peptide:1-67 added on Fri February 6 2015;chain:68-142 added on Fri February 6 2015
_displayNameUniProt:P48201 ATP5MC3
_timestamp2024-11-03 19:55:13
chaintransit peptide:1-67
chain:68-142
checksum19EC0D1710A0AA3F
commentFUNCTION Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.SUBUNIT F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Interacts with TMEM70 and TMEM242 (PubMed:33753518).SUBCELLULAR LOCATION Trimethylated by ATPSCKMT at Lys-110. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify precursors with different import sequences but identical mature proteins. Is the major protein stored in the storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease).SIMILARITY Belongs to the ATPase C chain family.
descriptionrecommendedName: fullName evidence="7"ATP synthase F(0) complex subunit C3, mitochondrial alternativeName: ATP synthase lipid-binding protein alternativeName: fullName evidence="8"ATP synthase membrane subunit c locus 3 alternativeName: ATP synthase proteolipid P3 alternativeName: ATP synthase proton-transporting mitochondrial F(0) complex subunit C3 alternativeName: ATPase protein 9 alternativeName: ATPase subunit c
geneNameATP5MC3
ATP5G3
identifierP48201
isSequenceChangedFALSE
keywordCF(0)
Disease variant
Dystonia
Hereditary spastic paraplegia
Hydrogen ion transport
Ion transport
Lipid-binding
Membrane
Methylation
Mitochondrion
Neurodegeneration
Proteomics identification
Reference proteome
Transit peptide
Transmembrane
Transmembrane helix
Transport
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameATP5MC3
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8994068] ENSEMBL:ENSG00000154518 ATP5MC3 [Homo sapiens]
secondaryIdentifierAT5G3_HUMAN
B2R4Z0
D3DPF0
Q4ZFX7
sequenceLength142
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:5216110] ATP5MC3 [mitochondrial inner membrane] [Homo sapiens]
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