ATP5MC3
entrez
518
canonical
uniprot
P48201
canonical
ensembl
ENSG00000154518
resolver
ensp
ENSP00000284727
resolver
ensp
ENSP00000376324
resolver
ensp
ENSP00000387317
resolver
ensp
ENSP00000547917
resolver
ensp
ENSP00000547919
resolver
ensp
ENSP00000547920
resolver
ensp
ENSP00000607405
resolver
ensp
ENSP00000607406
resolver
ensp
ENSP00000607407
resolver
ensp
ENSP00000607408
resolver
ensp
ENSP00000647874
resolver
enst
ENST00000284727
resolver
enst
ENST00000392541
resolver
enst
ENST00000409194
resolver
enst
ENST00000877858
resolver
enst
ENST00000877860
resolver
enst
ENST00000877861
resolver
enst
ENST00000937346
resolver
enst
ENST00000937347
resolver
enst
ENST00000937348
resolver
enst
ENST00000937349
resolver
genesymbol
ATP5MC3
resolver
genesymbol_syn
ATP5G3
resolver
hgnc
HGNC:843
resolver
uniprot
B2R4Z0
resolver
uniprot
D3DPF0
resolver
uniprot
Q4ZFX7
resolver
uniprot_entry
AT5G3_HUMAN
resolver
uniprot_sec
B2R4Z0
resolver
uniprot_sec
D3DPF0
resolver
uniprot_sec
Q4ZFX7
resolver
amino_acid_sequence
MFACAKLACTPSLIRAGSRVAYRPISASVLSRPEASRTGEGSTVFNGAQNGVSQLIQREFQTSAISRDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIGYARNPSLKQQLFSYAILGFALSEAMGLFCLMVAFLILFAM
uniprot
proteins
disease_involvement
DISEASE: Dystonia, early-onset, and/or spastic paraplegia (DYTSPG) [MIM:619681]: An autosomal dominant, highly penetrant movement disorder characterized by spastic paraplegia and/or dystonia to varying degrees in affected individuals. Cognition is not affected. There is high intra- and interfamilial variability in phenotype and age of onset. Some patients have onset of progressive focal or generalized dystonia in the first decade, whereas others develop progressive spastic paraplegia as adults. Some affected individuals have manifestations of both disorders. {ECO:0000269|PubMed:34636445, ECO:0000269|PubMed:34954817}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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.
uniprot
proteins
mass_dalton
14693
uniprot
proteins
post_translational_modification
PTM: Trimethylated by ATPSCKMT at Lys-110. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration. {ECO:0000269|PubMed:30530489}.
uniprot
proteins
protein_family
ATPase C chain family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
30530489
uniprot
proteins
pubmed
33753518
uniprot
proteins
pubmed
34636445
uniprot
proteins
pubmed
34954817
uniprot
proteins
pubmed
7698763
uniprot
proteins
sequence_length
142
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 83..103; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 118..138; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins