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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GFM1 Gene

protein-coding   GIFtS: 59
GCID: GC03P158362

G elongation factor, mitochondrial 1

(Previous names: G translation elongation factor, mitochondrial )
 Explore 12 diseases affiliated with
GFM1 via our new
 Human Malady Compendium 
Biological research products
for GFM1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
G Elongation Factor, Mitochondrial 11 2     EF-Gmt2 3
GFM1 2 3 5     EFG2 3
EFG12 3 5     HEFG11
EFGM1 2     MEF-G 12 3
EGF11 2     COXPD12 5
G Translation Elongation Factor, Mitochondrial1 2     Elongation Factor G, Mitochondrial2
Elongation Factor G 1, Mitochondrial2 3     Mitochondrial Elongation Factor G2
Elongation Factor G12 3     Mitochondrial Elongation Factor G12

External Ids:    HGNC: 137801   Entrez Gene: 854762   Ensembl: ENSG000001688277   OMIM: 6066395   UniProtKB: Q96RP93   

Export aliases for GFM1 gene to outside databases

Previous GC identifers: GC03P159846 GC03P155758


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GFM1:
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)

UniProtKB/Swiss-Prot: EFGM_HUMAN, Q96RP9
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 Wiki entry for GFM1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GFM1 gene promoter:
         PPAR-alpha   RFX1   AP-1   ATF-2   STAT3   Sox9   Nkx2-5   c-Jun   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGFM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GFM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GFM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25   Ensembl cytogenetic band:  3q25.32   HGNC cytogenetic band: 3q25

GFM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GFM1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P158362:  view genomic region     (about GC identifiers)

Start:
158,362,067 bp from pter      End:
158,410,364 bp from pter
Size:
48,298 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: EFGM_HUMAN, Q96RP9 (See protein sequence)
Recommended Name: Elongation factor G, mitochondrial precursor  
Size: 751 amino acids; 83471 Da
Subcellular location: Mitochondrion (By similarity)
Sequence caution: Sequence=EAW78682.1; Type=Erroneous gene model prediction;
Secondary accessions: A6NCI9 B2RCB9 B3KRW1 Q6GTN2 Q96T39
Alternative splicing: 2 isoforms:  Q96RP9-1   Q96RP9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GFM1: NX_Q96RP9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96RP9

  • GFM1 Protein expression data from MOPED and PaxDb:    About this image 
    GFM1 Protein Expression
    REFSEQ proteins: NP_079272.4  
    ENSEMBL proteins: 
     ENSP00000419038   ENSP00000418755   ENSP00000417225   ENSP00000264263   ENSP00000417532  
     ENSP00000420272   ENSP00000327081  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GFM1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005739mitochondrion IEA--

    GFM1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GFM1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GFM1 for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR000795 EF_GTP-bd_dom
     IPR005517 Transl_elong_EFG/EF2_IV
     IPR005225 Small_GTP-bd_dom
     IPR004161 Transl_elong_EFTu/EF1A_2
     IPR020568 Ribosomal_S5_D2-typ_fold

    Graphical View of Domain Structure for InterPro Entry Q96RP9

    ProtoNet protein and cluster: Q96RP9

    2 Blocks protein families:
    IPB000640 Elongation factor G
    IPB005517 Elongation factor G


    UniProtKB/Swiss-Prot: EFGM_HUMAN, Q96RP9
    Similarity: Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EFGM_HUMAN, Q96RP9
    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003746translation elongation factor activity IDA19716793
    GO:0003924GTPase activity IDA19716793
    GO:0005525GTP binding IEA--
         
    GFM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GFM1:
     Increased G1 DNA content 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gfm1):
     homeostasis/metabolism  mortality/aging 

    GFM1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GFM1 

    miRNA
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    miRTarBase miRNAs that target GFM1:
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    SwitchGear 3'UTR luciferase reporter plasmidGFM1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFM1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: EFGM_HUMAN, Q96RP9
    Pathway: Protein biosynthesis; polypeptide chain elongation

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GFM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/80 Interacting proteins for GFM1 (Q96RP92, 3 ENSP000004190384) via UniProtKB, MINT, STRING, and/or I2D (see all 80)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6492209 MINT-6503520 I2D: score=1 STRING: ENSP00000363390
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-6503830 I2D: score=1 STRING: ENSP00000262435
    TRIM55Q9BYV62, 3, ENSP000003239134MINT-6492275 I2D: score=1 STRING: ENSP00000323913
    PRPF4O431723, ENSP000003633134I2D: score=1 STRING: ENSP00000363313
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process IDA19716793
    GO:0070125mitochondrial translational elongation IDA19716793

    GFM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GFM1 for compounds           About GeneDecksing

    EMD Millipore small molecules for GFM1:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for GFM1

    Browse Tocris compounds for GFM1

    4 HMDB Compounds for GFM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    10/22 Novoseek chemical compound relationships for GFM1 gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    viomycin 85.2 1 17515906 (1)
    gtp 84.2 122 18836081 (6), 16940356 (5), 17630323 (5), 15985150 (4) (see all 50)
    thiostrepton 82.7 8 15492007 (2), 10449736 (2), 9628883 (1), 9696754 (1) (see all 6)
    trna 79.4 28 17630323 (4), 18538656 (2), 11980724 (2), 17349960 (2) (see all 19)
    fusidic acid 79.4 22 8642600 (3), 17980694 (3), 11980724 (1), 16489743 (1) (see all 11)
    aminoacyl-trna 77.4 6 12370017 (1), 17194938 (1), 16240709 (1), 2207151 (1) (see all 6)
    gamma-carboxyglutamic acid 76.6 25 17387172 (2), 14579355 (1), 11566805 (1), 20156644 (1) (see all 9)
    fe(ii)-edta 73.4 1 11780642 (1)
    gdp 71.9 26 18836081 (4), 16940356 (3), 9678602 (2), 17630323 (2) (see all 13)
    puromycin 59.4 2 1733779 (1), 1322179 (1)

    Search CenterWatch for drugs/clinical trials and news about GFM1 / EFGM 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GFM1 gene: 
    NM_024996.5  

    Unigene Cluster for GFM1:

    G elongation factor, mitochondrial 1
    Hs.518355  [show with all ESTs]
    Unigene Representative Sequence: AF309777
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486715(uc003fce.3) ENST00000478576(uc003fcd.3) ENST00000478254
    ENST00000264263(uc003fcg.3) ENST00000464732 ENST00000478251 ENST00000486008
    ENST00000490261 ENST00000477721 ENST00000481468 ENST00000472383 ENST00000312756


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    hsa-miR-875-3p hsa-miR-889 hsa-miR-3185 hsa-miR-205* hsa-miR-545 hsa-miR-548aa
    SwitchGear 3'UTR luciferase reporter plasmidGFM1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AF309777.1 AF367998.1 AK000780.1 AK092293.1 AK315031.1 BC049210.1 

    18 DOTS entries:

    DT.97771529  DT.101959083  DT.446628  DT.91935820  DT.120924610  DT.100819161  DT.100819164  DT.86852999 
    DT.100819162  DT.92418949  DT.95359469  DT.99934549  DT.40285341  DT.80100117  DT.91966683  DT.92418950 
    DT.95331287  DT.97822777 

    24/249 AceView cDNA sequences (see all 249):

    AA768294 AA649021 BP365297 BQ430445 BP346010 CD513040 AW612101 CR623235 
    BX329287 CD109494 BI825994 BQ691628 BM980706 AF367998 BM480336 BF941819 
    NM_024996 BQ772778 BM856912 BU194886 BX102879 AV651198 CB159253 CK819842 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GFM1 (see all 8)    About this scheme

    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:                                                                                                                                                            

    ExUns: 21a · 21b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for GFM1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GFM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACACTTCTTG
    GFM1 Expression
    About this image
    See GFM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GFM1

    SOURCE GeneReport for Unigene cluster: Hs.518355
        SABiosciences Custom PCR Arrays for GFM1

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for GFM1 gene from 10/37 species (see all 37)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves GFM11 G elongation factor, mitochondrial 1 75.68(n)
    82.24(a)
      425018  XM_001233638.2  XP_001233639.1 
    lizard
    (Anolis carolinensis)
    Reptilia GFM16
    GFM26
    --
    83(a)
    34(a)
    1 ↔ 1
    possible ortholog
    3(14113841-14146250)
    2(15132714-15150910)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ617382.12   -- 80.26(n)    BJ617382.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570544002   -- 68.92(n)    57054400 
    fruit fly
    (Drosophila melanogaster)
    Insecta ico1 iconoclast 62.9(n)
    67.66(a)
      34004  NM_135261.1  NP_609105.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F29C12.41 Protein F29C12.4 57.54(n)
    56.5(a)
      174956  NM_064386.3  NP_496787.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MEF1(YLR069C)4
    MEF11
    Mitochondrial elongation factor involved in translational more4
    Mef1p1
    58.88(n)1
    58.44(a)1
      12(273915-271630)4
    8507581, 4  NP_013170.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G453321 Elongation factor G 58.73(n)
    56.64(a)
      841097  NM_103595.3  NP_175135.1 
    rice
    (Oryza sativa)
    Liliopsida Os.39212 Oryza sativa (japonica cultivar-group) mEF-G mRNA for more 73.31(n)    AB040051.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria fusA6
    protein chain elongation factor EF-G, GTP-binding
    43(a)
    1 ↔ 1
    Chromosome(3469422-3471536)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/784 NCBI SNPs in GFM1 are shown (see all 784    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs45135041,2
    H--155756953(-) AAAGTT/CTATTG 1 -- us2k1 tfbs34Minor allele frequency- C:0.00NS EA 418
    rs44584061,2
    C,H--155756997(-) ACACAA/CAAGAA 1 -- us2k14Minor allele frequency- C:0.00NS EA 414
    rs1125807731,2
    --155757785(+) GTCCAC/TGTTCT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs38066421,2
    C,F,H--155757884(-) TAAAGC/AAATGT 1 -- us2k125Minor allele frequency- A:0.12EA NA MN NS WA CSA 5236
    rs1166149581,2
    C,F--155758197(+) TTGACC/TGCTTC 1 -- ut511Minor allele frequency- T:0.04WA 118
    rs76184211,2
    C,H--155759066(+) AATACG/ATCTTT 1 -- int15Minor allele frequency- A:0.01NS EA WA 484
    rs622866511,2
    C,F--155759375(+) CAGAAC/AGAGTC 2 /R syn12Minor allele frequency- A:0.00NA 4548
    rs786791431,2
    F--155759603(+) TTTATA/GGAAGA 1 -- int11Minor allele frequency- G:0.09WA 118
    rs1131046891,2
    F--155760267(+) TCTACC/ATTCTT 1 -- int11Minor allele frequency- A:0.50CSA 4
    rs115560581,2
    H--155760471(+) GTGCCA/GGACCA 2 Q R mis1 ese34Minor allele frequency- G:0.00NS EA 406

    HapMap Linkage Disequilibrium report for GFM1 (158362067 - 158410364 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GFM1: --
    Human Gene Mutation Database (HGMD): GFM1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GFM1
    DNA2.0 Custom Variant and Variant Library Synthesis for GFM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GFM1 for disorders           About GeneDecksing

    OMIM gene information: 606639   
    OMIM disorders: 609060  
    UniProtKB/Swiss-Prot: EFGM_HUMAN, Q96RP9
  • Defects in GFM1 are the cause of combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060].
  • It leads to early fatal progressive hepatoencephalopathy

    12 diseases for GFM1:    About MalaCards
    combined oxidative phosphorylation deficiency    combined oxidative phosphorylation deficiency 1    factor vii deficiency    hemophilia
    hemophilia b    heart aneurysm    candidiasis    chondrosarcoma
    pneumonia    tuberculosis    malaria    mycobacterium tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for GFM1:
    Heart aneurysm     Pearson syndrome

    1 Novoseek disease relationship for GFM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mimicry 51.2 8 8643594 (2), 10397336 (1), 10837219 (1), 8805530 (1) (see all 5)

    Human Genome Epidemiology (HuGE) Navigator: GFM1 (2 documents)

    Export disorders for GFM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GFM1 gene, integrated from 9 sources (see all 167):
    (articles sorted by number of sources associating them with GFM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 11374907)1, 2, 3, 9 Gao J.... Zhao S. (2001)
    2. Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution. (PubMed id 11735030)1, 2, 3, 9 Hammarsund M.... Sangfelt O. (2001)
    3. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. (PubMed id 15537906)1, 2, 9 Coenen M.J.H.... Smeitink J.A.M. (2004)
    4. Expression and characterization of isoform 1 of human mitochondrial elongation factor G. (PubMed id 15358359)1, 2, 9 Bhargava K....Spremulli L.L. (2004)
    5. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. (PubMed id 19716793)1, 2, 9 Tsuboi M.... Takeuchi N. (2009)
    6. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. (PubMed id 17160893)1, 2, 9 Valente L....Zeviani M. (2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Toward genotype phenotype correlations in GFM1 mutatio ns. (PubMed id 21986555)1 Galmiche L....Rotig A. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 85476 HGNC: 13780 AceView: EFG1 Ensembl:ENSG00000168827 euGenes: HUgn85476
    ECgene: GFM1 H-InvDB: GFM1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GFM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GFM1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GFM1 gene:
    Search GeneIP for patents involving GFM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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