TMEM70
entrez
54968
canonical
uniprot
Q9BUB7
canonical
ensembl
ENSG00000175606
resolver
ensp
ENSP00000312599
resolver
ensp
ENSP00000429467
resolver
genesymbol
TMEM70
resolver
hgnc
HGNC:26050
resolver
uniprot
E9PDY9
resolver
uniprot
Q9NWY5
resolver
uniprot_entry
TMM70_HUMAN
resolver
uniprot_sec
E9PDY9
resolver
uniprot_sec
Q9NWY5
resolver
amino_acid_sequence
MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRASSSSGPSGPVAGWSTGPSGAARLLRRPGRAQIPVYWEGYVRFLNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIGLTFLPYIFTQNNAISESVPLPIQIIFYGIMGSFTVITPVLLHFITKGYVIRLYHEATTDTYKAITYNAMLAETSTVFHQNDVKIPDAKHVFTTFYAKTKSLLVNPVLFPNREDYIHLMGYDKEEFILYMEETSEEKRHKDDK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex V deficiency, nuclear type 2 (MC5DN2) [MIM:614052]: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. {ECO:0000269|PubMed:18953340, ECO:0000269|PubMed:22986587}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Scaffold protein that participates in the c-ring assembly of mitochondrial ATP synthase (F(1)F(0) ATP synthase or complex V) by facilitating the membrane insertion and oligomer formation of the subunit c/ATP5MC1 through its interaction (PubMed:31652072, PubMed:32275929, PubMed:33359711, PubMed:33753518). Therefore, participates in the early stage of mitochondrial ATP synthase biogenesis and also protects subunit c/ATP5MC1 against intramitochondrial proteolysis (PubMed:18953340, PubMed:20937241, PubMed:31652072, PubMed:33359711). In addition, binds the mitochondrial proton-transporting ATP synthase complexes I and may play a role in the stability of its membrane-bound subassemblies (PubMed:32275929). {ECO:0000269|PubMed:18953340, ECO:0000269|PubMed:20937241, ECO:0000269|PubMed:31652072, ECO:0000269|PubMed:32275929, ECO:0000269|PubMed:33359711, ECO:0000269|PubMed:33753518}.
uniprot
proteins
mass_dalton
28969
uniprot
proteins
protein_family
TMEM70 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
18953340
uniprot
proteins
pubmed
20937241
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22986587
uniprot
proteins
pubmed
24576557
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31652072
uniprot
proteins
pubmed
32275929
uniprot
proteins
pubmed
33359711
uniprot
proteins
pubmed
33753518
uniprot
proteins
sequence_length
260
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:20937241, ECO:0000269|PubMed:24576557, ECO:0000269|PubMed:33359711}; Multi-pass membrane protein {ECO:0000269|PubMed:20937241, ECO:0000269|PubMed:24576557}. Note=Mostly located within the inner cristae membrane. {ECO:0000269|PubMed:33359711}.
uniprot
proteins
transmembrane_region
TRANSMEM 103..123; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 142..162; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins