TSFM
entrez
10102
canonical
uniprot
P43897
canonical
ensembl
ENSG00000123297
resolver
ensp
ENSP00000313877
resolver
ensp
ENSP00000439342
resolver
ensp
ENSP00000440987
resolver
ensp
ENSP00000499171
resolver
genesymbol
TSFM
resolver
hgnc
HGNC:12367
resolver
uniprot
B4E391
resolver
uniprot
E5KS95
resolver
uniprot
F5H2T7
resolver
uniprot
Q561V7
resolver
uniprot
Q8TBC2
resolver
uniprot
Q9UQK0
resolver
uniprot_entry
E5KS95_HUMAN
resolver
uniprot_entry
EFTS_HUMAN
resolver
uniprot_sec
B4E391
resolver
uniprot_sec
F5H2T7
resolver
uniprot_sec
Q561V7
resolver
uniprot_sec
Q8TBC2
resolver
uniprot_sec
Q9UQK0
resolver
amino_acid_sequence
MSLLRSLRVFLVARTGSYPAGSLLRQSPQPRHTFYAGPRLSASASSKELLMKLRRKTGYSFVNCKKALETCGGDLKQAEIWLHKEAQKEGWSKAAKLQGRKTKEGLIGLLQEGNTTVLVEVNCETDFVSRNLKFQLLVQQVALGTMMHCQTLKDQPSAYSKGFLNSSELSGLPAGPDREGSLKDQLALAIGKLGENMILKRAAWVKVPSGFYVGSYVHGAMQSPSLHKLVLGKYGALVICETSEQKTNLEDVGRRLGQHVVGMAPLSVGSLDDEPGGEAETKMLSQPYLLDPSITLGQYVQPQGVSVVDFVRFECGEGEEAAETE
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 3 (COXPD3) [MIM:610505]: A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes. {ECO:0000269|PubMed:17033963, ECO:0000269|PubMed:21741925, ECO:0000269|PubMed:22499341, ECO:0000269|PubMed:25037205, ECO:0000269|PubMed:27677415, ECO:0000269|PubMed:30911037}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome. Participates in mitochondrial translation (PubMed:27677415). {ECO:0000255|HAMAP-Rule:MF_03135, ECO:0000269|PubMed:27677415}.
uniprot
proteins
mass_dalton
35391
uniprot
proteins
pathway_participation
PATHWAY: Protein biosynthesis; polypeptide chain elongation. {ECO:0000250|UniProtKB:P43896}.
uniprot
proteins
protein_family
EF-Ts family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17033963
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21741925
uniprot
proteins
pubmed
22499341
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25037205
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27677415
uniprot
proteins
pubmed
30911037
uniprot
proteins
pubmed
7615523
uniprot
proteins
sequence_length
325
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:P43896}.
uniprot
proteins