GFM1

Protein-coding gene in the species Homo sapiens
GFM1
Identifiers
AliasesGFM1, COXPD1, EFG, EFG1, EFGM, EGF1, GFM, hEFG1, G elongation factor, mitochondrial 1, G elongation factor mitochondrial 1, mtEF-G1
External IDsOMIM: 606639; MGI: 107339; HomoloGene: 6449; GeneCards: GFM1; OMA:GFM1 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for GFM1
Genomic location for GFM1
Band3q25.32Start158,644,278 bp[1]
End158,692,575 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for GFM1
Genomic location for GFM1
Band3 E1|3 30.96 cMStart67,337,429 bp[2]
End67,383,862 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • biceps brachii

  • Brodmann area 23

  • Skeletal muscle tissue of biceps brachii

  • retinal pigment epithelium

  • Skeletal muscle tissue of rectus abdominis

  • right ventricle

  • germinal epithelium

  • mucosa of sigmoid colon

  • parietal pleura
Top expressed in
  • myocardium of ventricle

  • otic placode

  • right kidney

  • cardiac muscles

  • cardiac muscle tissue of left ventricle

  • digastric muscle

  • masseter muscle

  • right ventricle

  • proximal tubule

  • temporal muscle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • nucleotide binding
  • GTP binding
  • protein binding
  • GTPase activity
  • translation elongation factor activity
  • RNA binding
Cellular component
  • mitochondrial matrix
  • intracellular anatomical structure
  • mitochondrion
Biological process
  • translational elongation
  • protein biosynthesis
  • mitochondrial translational elongation
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

85476

28030

Ensembl

ENSG00000168827

ENSMUSG00000027774

UniProt

Q96RP9

Q8K0D5

RefSeq (mRNA)

NM_001308164
NM_001308166
NM_024996

NM_138591

RefSeq (protein)
NP_001295093
NP_001295095
NP_079272
NP_001361284
NP_001361285

NP_001361286
NP_001361287
NP_001361288
NP_001361289
NP_001361290

NP_613057

Location (UCSC)Chr 3: 158.64 – 158.69 MbChr 3: 67.34 – 67.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Elongation factor G 1, mitochondrial is a protein that in humans is encoded by the GFM1 gene. It is an EF-G homolog.[5][6][7]

Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168827 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027774 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Gao J, Yu L, Zhang P, Jiang J, Chen J, Peng J, Wei Y, Zhao S (May 2001). "Cloning and characterization of human and mouse mitochondrial elongation factor G, GFM and Gfm, and mapping of GFM to human chromosome 3q25.1-q26.2". Genomics. 74 (1): 109–14. doi:10.1006/geno.2001.6536. PMID 11374907.
  6. ^ Hammarsund M, Wilson W, Corcoran M, Merup M, Einhorn S, Grander D, Sangfelt O (Dec 2001). "Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution". Hum Genet. 109 (5): 542–50. doi:10.1007/s00439-001-0610-5. PMID 11735030. S2CID 24508386.
  7. ^ a b "Entrez Gene: GFM1 G elongation factor, mitochondrial 1".

Further reading

  • Bec G, Kerjan P, Zha XD, Waller JP (1990). "Valyl-tRNA synthetase from rabbit liver. I. Purification as a heterotypic complex in association with elongation factor 1". J. Biol. Chem. 264 (35): 21131–7. doi:10.1016/S0021-9258(19)30056-0. PMID 2556394.
  • Motorin YuA; Wolfson AD; Orlovsky AF; Gladilin KL (1988). "Mammalian valyl-tRNA synthetase forms a complex with the first elongation factor". FEBS Lett. 238 (2): 262–4. doi:10.1016/0014-5793(88)80492-7. PMID 3169261. S2CID 45934458.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Bhargava K, Templeton P, Spremulli LL (2005). "Expression and characterization of isoform 1 of human mitochondrial elongation factor G". Protein Expr. Purif. 37 (2): 368–76. doi:10.1016/j.pep.2004.06.030. PMID 15358359.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Coenen MJ, Antonicka H, Ugalde C, et al. (2004). "Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency". N. Engl. J. Med. 351 (20): 2080–6. doi:10.1056/NEJMoa041878. hdl:2066/143650. PMID 15537906. S2CID 96906.
  • Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA (2006). "The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1". Hum. Mol. Genet. 15 (11): 1835–46. doi:10.1093/hmg/ddl106. PMID 16632485.
  • Valente L, Tiranti V, Marsano RM, et al. (2007). "Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu". Am. J. Hum. Genet. 80 (1): 44–58. doi:10.1086/510559. PMC 1785320. PMID 17160893.