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Aliases for GFM1 Gene

Aliases for GFM1 Gene

  • G Elongation Factor, Mitochondrial 1 2 3
  • G Translation Elongation Factor, Mitochondrial 2 3
  • HEFG1 3 4
  • EFG1 3 4
  • Efg 3 4
  • GFM 3 4
  • Elongation Factor G 1, Mitochondrial 4
  • Mitochondrial Elongation Factor G1 3
  • Mitochondrial Elongation Factor G 3
  • Elongation Factor G1 4
  • MEF-G 1 4
  • COXPD1 3
  • 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 hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 and combined oxidative phosphorylation deficiency 1. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. GO annotations related to this gene include poly(A) RNA binding and GTPase 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

Chromosome:
3
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 Lys 175 and Lys 280
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for GFM1

No data available for DME Specific Peptides for GFM1 Gene

Domains & Families for GFM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96RP9

UniProtKB/Swiss-Prot:

EFGM_HUMAN :
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
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

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

Animal Model 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 Targets 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 4
cytoskeleton 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GFM1 Gene

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

Pathways & Interactions for GFM1 Gene

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

Pathways by source for GFM1 Gene

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:0006414 translational elongation --
GO:0006996 organelle organization TAS --
GO:0008152 metabolic process --
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 SIGNOR curated interactions for GFM1 Gene

Drugs & Compounds for GFM1 Gene

(9) Drugs for GFM1 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fusidic Acid Approved Pharma 10
Spectinomycin Approved Pharma 0
Tetracycline Approved Pharma 81
viomycin Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0

(17) Additional Compounds for GFM1 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Aminoacyl-tRNA
Anticodon
Dimethyl sulfate
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:

miRNA Products

Inhibitory RNA Products

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

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

Protein differential expression in normal tissues from HIPED for GFM1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.9), Adrenal (7.8), and Lymph node (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GFM1: view

Protein tissue co-expression partners for GFM1 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia GFM1 35
  • 99.51 (n)
  • 99.73 (a)
GFM1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfm1 35
  • 83.49 (n)
  • 86.26 (a)
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
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)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05467g 35
  • 57.6 (n)
  • 56.01 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEF1 35
  • 58.88 (n)
  • 58.44 (a)
MEF1 36
  • 53 (a)
OneToOne
MEF1 38
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

(2) 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

Variation tolerance for GFM1 Gene

Residual Variation Intolerance Score: 16.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.33% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(11) MalaCards diseases for GFM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association
Search GFM1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GFM1

Genetic Association Database (GAD)
GFM1
Human Genome Epidemiology (HuGE) Navigator
GFM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GFM1
genes like me logo Genes that share disorders with GFM1: view

No data available for Genatlas for GFM1 Gene

Publications for GFM1 Gene

  1. 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 23 67
  2. 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 23 67
  3. Recent estimates of the structure of the factor VIIa (FVIIa)/tissue factor (TF) and factor Xa (FXa) ternary complex. (PMID: 20156644) Lee C.J. … Pedersen L.G. (Thromb. Res. 2010) 23 67
  4. Atomic mutagenesis reveals A2660 of 23S ribosomal RNA as key to EF-G GTPase activation. (PMID: 20348921) Clementi N. … Polacek N. (Nat. Chem. Biol. 2010) 23 67
  5. A bacterial elongation factor G homologue exclusively functions in ribosome recycling in the spirochaete Borrelia burgdorferi. (PMID: 20132446) Suematsu T. … Watanabe Y. (Mol. Microbiol. 2010) 23 67

Products for GFM1 Gene

Sources for GFM1 Gene

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