TUFM
entrez
7284
canonical
uniprot
P49411
canonical
ensembl
ENSG00000178952
resolver
ensp
ENSP00000322439
resolver
ensp
ENSP00000534116
resolver
enst
ENST00000313511
resolver
genesymbol
TUFM
resolver
hgnc
HGNC:12420
resolver
uniprot
A0A384ME17
resolver
uniprot
O15276
resolver
uniprot_entry
A0A384ME17_HUMAN
resolver
uniprot_entry
EFTU_HUMAN
resolver
uniprot_sec
O15276
resolver
amino_acid_sequence
MTTMAAATLLRATPHFSGLAAGRTFLLQGLLRLLKAPALPLLCRGLAVEAKKTYVRDKPHVNVGTIGHVDHGKTTLTAAITKILAEGGGAKFKKYEEIDNAPEERARGITINAAHVEYSTAARHYAHTDCPGHADYVKNMITGTAPLDGCILVVAANDGPMPQTREHLLLARQIGVEHVVVYVNKADAVQDSEMVELVELEIRELLTEFGYKGEETPVIVGSALCALEGRDPELGLKSVQKLLDAVDTYIPVPARDLEKPFLLPVEAVYSVPGRGTVVTGTLERGILKKGDECELLGHSKNIRTVVTGIEMFHKSLERAEAGDNLGALVRGLKREDLRRGLVMVKPGSIKPHQKVEAQVYILSKEEGGRHKPFVSHFMPVMFSLTWDMACRIILPPEKELAMPGEDLKFNLILRQPMILEKGQRFTLRDGNRTIGTGLVTNTLAMTEEEKNIKWG
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 4 (COXPD4) [MIM:610678]: A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes. {ECO:0000269|PubMed:17160893}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.3
uniprot
proteins
function
FUNCTION: GTP hydrolase that promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Participates in mitochondrial translation (By similarity). Also plays a role in the regulation of autophagy and innate immunity (PubMed:22749352, PubMed:28407488). Recruits ATG5-ATG12 and NLRX1 at mitochondria and serves as a checkpoint of the RIGI-MAVS pathway (PubMed:28407488). In turn, inhibits RLR-mediated type I interferon while promoting autophagy (PubMed:22749352). {ECO:0000250|UniProtKB:P49410, ECO:0000269|PubMed:22749352, ECO:0000269|PubMed:28407488}.
uniprot
proteins
mass_dalton
49875
uniprot
proteins
pathway_participation
PATHWAY: Protein biosynthesis; polypeptide chain elongation. {ECO:0000250|UniProtKB:P49410}.
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
EF-Tu/EF-1A subfamily
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17160893
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22749352
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28407488
uniprot
proteins
pubmed
31091447
uniprot
proteins
pubmed
7828719
uniprot
proteins
pubmed
8547323
uniprot
proteins
pubmed
9332382
uniprot
proteins
sequence_length
455
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:22749352}.
uniprot
proteins