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Aliases for GFM1 Gene

Aliases for GFM1 Gene

  • G Elongation Factor, Mitochondrial 1 2 3
  • EFG1 3 4 6
  • GFM 3 4 6
  • G Translation Elongation Factor, Mitochondrial 2 3
  • COXPD1 3 6
  • HEFG1 3 4
  • Efg 3 4
  • Elongation Factor G 1, Mitochondrial 4
  • Elongation Factor G, Mitochondrial 3
  • Mitochondrial Elongation Factor G1 3
  • Mitochondrial Elongation Factor G 3
  • Elongation Factor G1 4
  • MEF-G 1 4
  • EF-Gmt 4
  • EFGM 3
  • EGF1 3

External Ids for GFM1 Gene

Previous GeneCards Identifiers for GFM1 Gene

  • GC03P159846
  • GC03P158362
  • GC03P155758

Summaries for GFM1 Gene

Entrez Gene Summary for GFM1 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for GFM1 Gene

GFM1 (G Elongation Factor, Mitochondrial 1) is a Protein Coding gene. Diseases associated with GFM1 include combined oxidative phosphorylation deficiency 1 and hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1. GO annotations related to this gene include GTP binding and translation elongation factor activity.

UniProtKB/Swiss-Prot for GFM1 Gene

  • Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis.

Gene Wiki entry for GFM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFM1 Gene

Genomics for GFM1 Gene

Regulatory Elements for GFM1 Gene

Genomic Location for GFM1 Gene

Start:
158,644,278 bp from pter
End:
158,692,575 bp from pter
Size:
48,298 bases
Orientation:
Plus strand

Genomic View for GFM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GFM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFM1 Gene

Proteins for GFM1 Gene

  • Protein details for GFM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RP9-EFGM_HUMAN
    Recommended name:
    Elongation factor G, mitochondrial
    Protein Accession:
    Q96RP9
    Secondary Accessions:
    • A6NCI9
    • B2RCB9
    • B3KRW1
    • Q6GTN2
    • Q96T39

    Protein attributes for GFM1 Gene

    Size:
    751 amino acids
    Molecular mass:
    83471 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=EAW78682.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for GFM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GFM1 Gene

Proteomics data for GFM1 Gene at MOPED

Post-translational modifications for GFM1 Gene

  • Ubiquitination at Lys175 and Lys280
  • Modification sites at PhosphoSitePlus

Other Protein References for GFM1 Gene

No data available for DME Specific Peptides for GFM1 Gene

Domains for GFM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96RP9

UniProtKB/Swiss-Prot:

EFGM_HUMAN :
  • Q96RP9
Domain:
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
genes like me logo Genes that share domains with GFM1: view

No data available for Gene Families for GFM1 Gene

Function for GFM1 Gene

Molecular function for GFM1 Gene

UniProtKB/Swiss-Prot Function: Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis.

Gene Ontology (GO) - Molecular Function for GFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 translation elongation factor activity IDA 19716793
GO:0003924 GTPase activity IDA 19716793
GO:0005515 protein binding IPI 18157088
GO:0005525 GTP binding IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with GFM1: view

Phenotypes for GFM1 Gene

MGI mutant phenotypes for GFM1:
inferred from 1 alleles
GenomeRNAi human phenotypes for GFM1:
genes like me logo Genes that share phenotypes with GFM1: view

Animal Model Products

CRISPR Products

miRNA for GFM1 Gene

miRTarBase miRNAs that target GFM1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GFM1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GFM1 Gene

Localization for GFM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFM1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GFM1 Gene COMPARTMENTS Subcellular localization image for GFM1 gene
Compartment Confidence
mitochondrion 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with GFM1: view

Pathways for GFM1 Gene

SuperPathways for GFM1 Gene

No Data Available

UniProtKB/Swiss-Prot Q96RP9-EFGM_HUMAN

  • Pathway: Protein biosynthesis; polypeptide chain elongation.

Gene Ontology (GO) - Biological Process for GFM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0006414 translational elongation --
GO:0006996 organelle organization TAS --
GO:0032543 mitochondrial translation TAS --
GO:0070125 mitochondrial translational elongation TAS --
genes like me logo Genes that share ontologies with GFM1: view

No data available for Pathways by source for GFM1 Gene

Compounds for GFM1 Gene

(4) HMDB Compounds for GFM1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine triphosphate
  • 5'-GTP
86-01-1
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(22) Novoseek inferred chemical compound relationships for GFM1 Gene

Compound -log(P) Hits PubMed IDs
viomycin 85.2 1
gtp 84.2 95
thiostrepton 82.7 8
trna 79.4 27
fusidic acid 79.4 15
genes like me logo Genes that share compounds with GFM1: view

Transcripts for GFM1 Gene

Unigene Clusters for GFM1 Gene

G elongation factor, mitochondrial 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GFM1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GFM1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b · 18c ^ 19 ^ 20 ^
SP1: - - - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6: - - -
SP7: - -
SP8: -

ExUns: 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for GFM1 Gene

GeneLoc Exon Structure for
GFM1
ECgene alternative splicing isoforms for
GFM1

Expression for GFM1 Gene

mRNA expression in normal human tissues for GFM1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GFM1 Gene

SOURCE GeneReport for Unigene cluster for GFM1 Gene Hs.518355

genes like me logo Genes that share expressions with GFM1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GFM1 Gene

Orthologs for GFM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GFM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFM1 35
  • 99.51 (n)
  • 99.73 (a)
GFM1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GFM1 35
  • 90.93 (n)
  • 92.67 (a)
GFM1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GFM1 35
  • 89.19 (n)
  • 91.89 (a)
GFM1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfm1 35
  • 85.99 (n)
  • 91.43 (a)
Gfm1 16
Gfm1 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GFM1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gfm1 35
  • 83.49 (n)
  • 86.26 (a)
chicken
(Gallus gallus)
Aves GFM1 35
  • 75.68 (n)
  • 82.24 (a)
GFM1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GFM1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gfm1 35
  • 76.93 (n)
  • 84.82 (a)
Str.11738 35
zebrafish
(Danio rerio)
Actinopterygii gfm1 35
  • 70.51 (n)
  • 79.83 (a)
gfm1 36
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta EFGM_ANOGA 35
  • 60.53 (n)
  • 66.86 (a)
fruit fly
(Drosophila melanogaster)
Insecta ico 35
  • 62.9 (n)
  • 67.66 (a)
ico 36
  • 65 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F29C12.4 35
  • 57.73 (n)
  • 56.36 (a)
F58G1.8 36
  • 34 (a)
OneToMany
gfm-1 36
  • 55 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR227C 35
  • 57.99 (n)
  • 55.88 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEF1 35
  • 58.88 (n)
  • 58.44 (a)
MEF1 36
  • 53 (a)
OneToOne
MEF1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05467g 35
  • 57.6 (n)
  • 56.01 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G45332 35
  • 58.73 (n)
  • 56.64 (a)
rice
(Oryza sativa)
Liliopsida Os.3921 35
Os03g0565500 35
  • 56.86 (n)
  • 55.04 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02955 35
  • 55.05 (n)
  • 55 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1306.01c 35
  • 58.58 (n)
  • 57.46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToOne
Species with no ortholog for GFM1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GFM1 Gene

ENSEMBL:
Gene Tree for GFM1 (if available)
TreeFam:
Gene Tree for GFM1 (if available)

Paralogs for GFM1 Gene

Selected SIMAP similar genes for GFM1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with GFM1: view

No data available for Paralogs for GFM1 Gene

Variants for GFM1 Gene

Sequence variations from dbSNP and Humsavar for GFM1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs8650 -- 158,692,158(+) ATGTC(A/T)GTTTA utr-variant-3-prime
rs15393 -- 158,692,093(-) AAAAA(A/C)ACTCT utr-variant-3-prime
rs891464 -- 158,664,304(-) aacag(C/T)tatca intron-variant
rs966145 -- 158,647,461(-) TATTG(C/T)GTAAA intron-variant
rs966146 -- 158,647,444(-) AATGC(A/T)ATAAA intron-variant

Relevant External Links for GFM1 Gene

HapMap Linkage Disequilibrium report
GFM1
Human Gene Mutation Database (HGMD)
GFM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GFM1 Gene

Disorders for GFM1 Gene

(1) OMIM Diseases for GFM1 Gene (606639)

UniProtKB/Swiss-Prot

EFGM_HUMAN
  • Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]: A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy. {ECO:0000269 PubMed:15537906, ECO:0000269 PubMed:17160893}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GFM1 Gene

(1) Novoseek inferred disease relationships for GFM1 Gene

Disease -log(P) Hits PubMed IDs
mimicry 51.2 6

Relevant External Links for GFM1

Genetic Association Database (GAD)
GFM1
Human Genome Epidemiology (HuGE) Navigator
GFM1
genes like me logo Genes that share disorders with GFM1: view

Publications for GFM1 Gene

  1. Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution. (PMID: 11735030) Hammarsund M. … Sangfelt O. (Hum. Genet. 2001) 2 3 4 23
  2. 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. (PMID: 11374907) Gao J. … Zhao S. (Genomics 2001) 2 3 4 23
  3. Expression and characterization of isoform 1 of human mitochondrial elongation factor G. (PMID: 15358359) Bhargava K. … Spremulli L.L. (Protein Expr. Purif. 2004) 3 4 23
  4. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. (PMID: 19716793) Tsuboi M. … Takeuchi N. (Mol. Cell 2009) 3 4 23
  5. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. (PMID: 17160893) Valente L. … Zeviani M. (Am. J. Hum. Genet. 2007) 3 4 23

Products for GFM1 Gene

  • Addgene plasmids for GFM1

Sources for GFM1 Gene

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