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GFM1 Gene

protein-coding   GIFtS: 61
GCID: GC03P158362

G Elongation Factor, Mitochondrial 1

(Previous names: G translation elongation factor, mitochondrial)
  See GFM1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
G Elongation Factor, Mitochondrial 11 2     hEFG12 3
EFG12 3 5     MEF-G 12 3
GFM2 3 5     COXPD12 5
G Translation Elongation Factor, Mitochondrial1 2     EFGM2
Elongation Factor G 1, Mitochondrial2 3     EGF12
Elongation Factor G12 3     Elongation Factor G, Mitochondrial2
EF-Gmt2 3     Mitochondrial Elongation Factor G2
EFG2 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 heart aneurysm, and combined oxidative phosphorylation deficiency 1. GO annotations related to this gene include GTP binding and translation elongation factor activity.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   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 Chromatin IP Primers for GFM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EFGM_HUMAN, Q96RP9 (See protein sequence)
Recommended Name: Elongation factor G, mitochondrial precursor  
Size: 751 amino acids; 83471 Da
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

Explore proteomics data for GFM1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys175, Lys280
  • Modification sites at PhosphoSitePlus

  • See GFM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079272.4  
    ENSEMBL proteins: 
     ENSP00000419038   ENSP00000418755   ENSP00000417225   ENSP00000264263   ENSP00000417532  
     ENSP00000420272  

    GFM1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for GFM1

     
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    antibodies-online proteins for GFM1 (5 products) 

     
    antibodies-online peptides for GFM1

    GFM1 Antibody Products:

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    GFM1 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 11):
     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 domains:
    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


    Find genes that share domains with GFM1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003746translation elongation factor activity IDA19716793
    GO:0003924GTPase activity IDA19716793
    GO:0005515protein binding IPI18157088
    GO:0005525GTP binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with GFM1           About GenesLikeMe


    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 

    Find genes that share phenotypes with GFM1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for GFM1

    miRNA
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    miRTarBase miRNAs that target GFM1:
    hsa-mir-16-5p (MIRT001465)

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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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    Addgene plasmids for GFM1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EFGM_HUMAN, Q96RP9: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with GFM1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: EFGM_HUMAN, Q96RP9
    Pathway: Protein biosynthesis; polypeptide chain elongation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GFM1
    Interactions:

        Search GeneGlobe Interaction Network for GFM1

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

    Selected Interacting proteins for GFM1 (Q96RP91, 2, 3 ENSP000004190384) via UniProtKB, MINT, STRING, and/or I2D (see all 207)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-6503830 I2D: score=1 STRING: ENSP00000262435
    TRIM63Q969Q11, 2, 3, ENSP000003633904EBI-2255048,EBI-5661333 MINT-6492209 MINT-6503520 I2D: score=1 STRING: ENSP00000363390
    TRIM55Q9BYV62, 3, ENSP000003239134MINT-6492275 I2D: score=1 STRING: ENSP00000323913
    EIF5AP632413, ENSP000003367024I2D: score=3 STRING: ENSP00000336702
    GSPT2Q8IYD13, ENSP000003412474I2D: score=1 STRING: ENSP00000341247
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process IDA19716793
    GO:0006414translational elongation ----
    GO:0070125mitochondrial translational elongation IDA19716793

    Find genes that share ontologies with GFM1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for GFM1
      Browse compounds at ApexBio 

    Browse Tocris compounds for GFM1 (EFGM)

    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--

    Selected Novoseek inferred 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)



    Find genes that share compounds with GFM1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486715(uc003fce.3) ENST00000478576(uc003fcd.3) ENST00000478254
    ENST00000264263(uc003fcg.3) ENST00000464732 ENST00000478251 ENST00000312756
    ENST00000490261 ENST00000477721 ENST00000481468 ENST00000472383
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate GFM1:
    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
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 249):

    BM468036 AI765919 BP346010 CB989738 BQ430445 CD513040 AU125791 AI784216 
    CA448826 BM982379 AV651198 AF367998 BU616912 BX102879 BP365297 BM788796 
    BM856912 BI825994 CR623235 BF941819 CD109494 AA772328 BM480336 CB159253 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GFM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACACTTCTTG
    GFM1 Expression
    About this image

    GFM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GFM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518355
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    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GFM1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gfm11 , 5 G elongation factor, mitochondrial 11, 5 85.99(n)1
    91.43(a)1
      3 (30.96 cM)5
    280301  NM_138591.21  NP_613057.21 
     674300965 
    chicken
    (Gallus gallus)
    Aves GFM11 G elongation factor, mitochondrial 1 75.68(n)
    82.24(a)
      425018  XM_001233638.3  XP_001233639.1 
    lizard
    (Anolis carolinensis)
    Reptilia GFM16
    G elongation factor, mitochondrial 1
    81(a)
    1 ↔ 1
    3(14113841-14148531)
    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_135261.2  NP_609105.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F29C12.41 CELE_F29C12.4 57.73(n)
    56.36(a)
      174956  NM_064386.4  NP_496787.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MEF1(YLR069C)4
    MEF11
    Mitochondrial elongation factor involved in translational more4
    MEF11
    58.88(n)1
    58.44(a)1
      12(273915-271630)4
    8507581, 4  NP_013170.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G453321 AT1G45332 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 


    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)
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    Paralogs for GFM1 gene
    2 SIMAP similar genes for GFM1 using alignment to 6 protein entries:     EFGM_HUMAN (see all proteins):
    EEF1A1    GFM2

    Find genes that share paralogs with GFM1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GFM1 (see all 1159)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289390981,2,4
    Combined oxidative phosphorylation deficiency 1 (COXPD1)4--see VAR_0215122 mis40--------
    VAR_0319014
    Combined oxidative phosphorylation deficiency 1 (COXPD1)4--see VAR_0319012 M R mis40--------
    rs1194700191,2
    Cpathogenic1158344268(+) AAATAC/TGAAAT 2 R * stg10--------
    rs1509985941,2
    C--155756823(+) CCTTC-/GGTTCC 1 -- us2k10--------
    rs1997317601,2
    --155757142(+) TCTTT-/TCTTTTT 1 -- us2k10--------
    rs2012929951,2
    --155757143(+) CTTTT-/CTTTTT 1 -- us2k10--------
    rs588002951,2
    C--155769777(+) TTTTTT/-GTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs788583361,2
    --155769777(+) TTTTGG/TTTTTT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs348508941,2
    C--155770237(+) CACTTAAG/-GAGGG 1 -- cds11Minor allele frequency- -:0.00CSA 2
    rs680707031,2
    C--155770238(+) ACTTG-/AAGAGGGG 1 -- cds10--------

    HapMap Linkage Disequilibrium report for GFM1 (158362067 - 158410364 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GFM1: --
    Human Gene Mutation Database (HGMD): GFM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 606639   
    OMIM disorders: 609060  
    UniProtKB/Swiss-Prot: EFGM_HUMAN, Q96RP9
  • Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]: A mitochondrial disease resulting
    in early rapidly progressive hepatoencephalopathy. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for GFM1:    
    About MalaCards
    heart aneurysm    combined oxidative phosphorylation deficiency 1    pearson syndrome    factor vii deficiency

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

    Find genes that share disorders with GFM1           About GenesLikeMe

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): GFM1
    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)
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    PubMed articles for GFM1 gene, integrated from 10 sources (see all 170):
    (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. (Genomics 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. (Hum. Genet. 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. (N. Engl. J. Med. 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. (Protein Expr. Purif. 2004)
    5. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. (PubMed id 19716793)1, 2, 9 Tsuboi M.... Takeuchi N. (Mol. Cell 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. (Am. J. Hum. Genet. 2007)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Genetic determinants of extracellular magnesium concentration: analysis of multiple candidate genes, and evidence for association with the estrogen receptor alpha (ESR1) locus. (PubMed id 19695239)1, 4 Shuen A.Y....Cole D.E. ( international journal of clinical chemistry 2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 85476 HGNC: 13780 AceView: EFG1 Ensembl:ENSG00000168827 euGenes: HUgn85476
    ECgene: GFM1 H-InvDB: GFM1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GFM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GFM1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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