Property Summary

NCBI Gene PubMed Count 19
Grant Count 167
R01 Count 116
Funding $16,450,525.95
PubMed Score 233.93
PubTator Score 297.35

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q96RP9 A6NCI9 B2RCB9 B3KRW1 Q6GTN2 Q96T39 EF-Gmt
Symbols EFG
GFM
EFG1
EFGM
EGF1
hEFG1
COXPD1

Gene

Gene RIF (7)

PMID Text
21986555 The R671C mutation disrupts an inter-subunit interface and could locally destabilize the mutant protein. The second mutation (L398P) disrupted the H-bond network in a rich-beta-sheet domain, and may have a dramatic effect on local structure.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19695239 Observational study of gene-disease association. (HuGE Navigator)
17160893 Genetic investigation of patients with defective mitochondrial translation led to the discovery of novel mutations in the mitochondrial elongation factor G1 (EFG1) in one affected baby and in the mitochondrial elongation factor Tu (EFTu) in another one
16632485 mutations in the mitochondrial translation factor EFG1 may have a role in oxidative phosphorylation deficiencies [case report]
15537906 Sequencing of EFG1 revealed a mutation affecting a conserved residue of the guanosine triphosphate (GTP)-binding domain. These results define a new class of gene defects underlying disorders of oxidative phosphorylation.
15358359 analysis of molecular model for EF-G1 isoform

AA Sequence

MRLLGAAAVAALGRGRAPASLGWQRKQVNWKACRWSSSGVIPNEKIRNIGISAHIDSGKTTLTERVLYYT      1 - 70
GRIAKMHEVKGKDGVGAVMDSMELERQRGITIQSAATYTMWKDVNINIIDTPGHVDFTIEVERALRVLDG     71 - 140
AVLVLCAVGGVQCQTMTVNRQMKRYNVPFLTFINKLDRMGSNPARALQQMRSKLNHNAAFMQIPMGLEGN    141 - 210
FKGIVDLIEERAIYFDGDFGQIVRYGEIPAELRAAATDHRQELIECVANSDEQLGEMFLEEKIPSISDLK    211 - 280
LAIRRATLKRSFTPVFLGSALKNKGVQPLLDAVLEYLPNPSEVQNYAILNKEDDSKEKTKILMNSSRDNS    281 - 350
HPFVGLAFKLEVGRFGQLTYVRSYQGELKKGDTIYNTRTRKKVRLQRLARMHADMMEDVEEVYAGDICAL    351 - 420
FGIDCASGDTFTDKANSGLSMESIHVPDPVISIAMKPSNKNDLEKFSKGIGRFTREDPTFKVYFDTENKE    421 - 490
TVISGMGELHLEIYAQRLEREYGCPCITGKPKVAFRETITAPVPFDFTHKKQSGGAGQYGKVIGVLEPLD    491 - 560
PEDYTKLEFSDETFGSNIPKQFVPAVEKGFLDACEKGPLSGHKLSGLRFVLQDGAHHMVDSNEISFIRAG    561 - 630
EGALKQALANATLCILEPIMAVEVVAPNEFQGQVIAGINRRHGVITGQDGVEDYFTLYADVPLNDMFGYS    631 - 700
TELRSCTEGKGEYTMEYSRYQPCLPSTQEDVINKYLEATGQLPVKKGKAKN                       701 - 751
//

Publication (27)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21986555 2012 Toward genotype phenotype correlations in GFM1 mutations.
21269460 2011 Initial characterization of the human central proteome.
21119709 2011 Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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