GFM2
entrez
84340
canonical
uniprot
Q969S9
canonical
ensembl
ENSG00000164347
resolver
ensp
ENSP00000296804
resolver
ensp
ENSP00000296805
resolver
ensp
ENSP00000405808
resolver
ensp
ENSP00000575429
resolver
ensp
ENSP00000575430
resolver
ensp
ENSP00000628357
resolver
ensp
ENSP00000732420
resolver
genesymbol
GFM2
resolver
genesymbol_syn
EFG2
resolver
hgnc
HGNC:29682
resolver
uniprot
A0AR28
resolver
uniprot
Q8N6D8
resolver
uniprot
Q8WYI0
resolver
uniprot
Q9H6Z1
resolver
uniprot_entry
RRF2M_HUMAN
resolver
uniprot_sec
A0AR28
resolver
uniprot_sec
Q8N6D8
resolver
uniprot_sec
Q8WYI0
resolver
uniprot_sec
Q9H6Z1
resolver
amino_acid_sequence
MLTNLRIFAMSHQTIPSVYINNICCYKIRASLKRLKPHVPLGRNCSSLPGLIGNDIKSLHSIINPPIAKIRNIGIMAHIDAGKTTTTERILYYSGYTRSLGDVDDGDTVTDFMAQERERGITIQSAAVTFDWKGYRVNLIDTPGHVDFTLEVERCLRVLDGAVAVFDASAGVEAQTLTVWRQADKHNIPRICFLNKMDKTGASFKYAVESIREKLKAKPLLLQLPIGEAKTFKGVVDVVMKEKLLWNCNSNDGKDFERKPLLEMNDPELLKETTEARNALIEQVADLDDEFADLVLEEFSENFDLLPAEKLQTAIHRVTLAQTAVPVLCGSALKNKGIQPLLDAVTMYLPSPEERNYEFLQWYKDDLCALAFKVLHDKQRGPLVFMRIYSGTIKPQLAIHNINGNCTERISRLLLPFADQHVEIPSLTAGNIALTVGLKHTATGDTIVSSKSSALAAARRAEREGEKKHRQNNEAERLLLAGVEIPEPVFFCTIEPPSLSKQPDLEHALKCLQREDPSLKVRLDPDSGQTVLCGMGELHIEIIHDRIKREYGLETYLGPLQVAYRETILNSVRATDTLDRTLGDKRHLVTVEVEARPIETSSVMPVIEFEYAESINEGLLKVSQEAIENGIHSACLQGPLLGSPIQDVAITLHSLTIHPGTSTTMISACVSRCVQKALKKADKQVLEPLMNLEVTVARDYLSPVLADLAQRRGNIQEIQTRQDNKVVIGFVPLAEIMGYSTVLRTLTSGSATFALELSTYQAMNPQDQNTLLNRRSGLT
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 39 (COXPD39) [MIM:618397]: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement. {ECO:0000269|PubMed:22700954, ECO:0000269|PubMed:26016410, ECO:0000269|PubMed:29075935}. 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: Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis (PubMed:19716793, PubMed:33878294). Acts in collaboration with MRRF (PubMed:19716793, PubMed:33878294). Promotes mitochondrial ribosome recycling by dissolution of intersubunit contacts (PubMed:33878294). GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit (PubMed:19716793). Not involved in the GTP-dependent ribosomal translocation step during translation elongation (PubMed:19716793). {ECO:0000269|PubMed:19716793, ECO:0000269|PubMed:33878294}.
uniprot
proteins
mass_dalton
86601
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
EF-G/EF-2 subfamily
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
11735030
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19716793
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22700954
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26016410
uniprot
proteins
pubmed
29075935
uniprot
proteins
pubmed
33878294
uniprot
proteins
sequence_length
779
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03059}.
uniprot
proteins