GUF1
entrez
60558
canonical
uniprot
Q8N442
canonical
ensembl
ENSG00000151806
resolver
ensp
ENSP00000281543
resolver
ensp
ENSP00000578264
resolver
ensp
ENSP00000789393
resolver
enst
ENST00000281543
resolver
genesymbol
GUF1
resolver
hgnc
HGNC:25799
resolver
uniprot
Q5XKM8
resolver
uniprot
Q9H710
resolver
uniprot
Q9H8U4
resolver
uniprot_entry
GUF1_HUMAN
resolver
uniprot_sec
Q5XKM8
resolver
uniprot_sec
Q9H710
resolver
uniprot_sec
Q9H8U4
resolver
amino_acid_sequence
MWTLVGRGWGCARALAPRATGAALLVAPGPRSAPTLGAAPESWATDRLYSSAEFKEKLDMSRFPVENIRNFSIVAHVDHGKSTLADRLLELTGTIDKTKNNKQVLDKLQVERERGITVKAQTASLFYNCEGKQYLLNLIDTPGHVDFSYEVSRSLSACQGVLLVVDANEGIQAQTVANFFLAFEAQLSVIPVINKIDLKNADPERVENQIEKVFDIPSDECIKISAKLGTNVESVLQAIIERIPPPKVHRKNPLRALVFDSTFDQYRGVIANVALFDGVVSKGDKIVSAHTQKTYEVNEVGVLNPNEQPTHKLYAGQVGYLIAGMKDVTEAQIGDTLCLHKQPVEPLPGFKSAKPMVFAGMYPLDQSEYNNLKSAIEKLTLNDSSVTVHRDSSLALGAGWRLGFLGLLHMEVFNQRLEQEYNASVILTTPTVPYKAVLSSSKLIKEHREKEITIINPAQFPDKSKVTEYLEPVVLGTIITPDEYTGKIMMLCEARRAVQKNMIFIDQNRVMLKYLFPLNEIVVDFYDSLKSLSSGYASFDYEDAGYQTAELVKMDILLNGNTVEELVTVVHKDKAHSIGKAICERLKDSLPRQLFEIAIQAAIGSKIIARETVKAYRKNVLAKCYGGDITRKMKLLKRQAEGKKKLRKIGNVEVPKDAFIKVLKTQSSK
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 40 (DEE40) [MIM:617065]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE40 inheritance is autosomal recessive. {ECO:0000269|PubMed:26486472}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner. {ECO:0000255|HAMAP-Rule:MF_03137}.
uniprot
proteins
mass_dalton
74328
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
LepA subfamily
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
26486472
uniprot
proteins
sequence_length
669
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03137}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03137}; Matrix side {ECO:0000255|HAMAP-Rule:MF_03137}.
uniprot
proteins