U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    GFM1 G elongation factor mitochondrial 1 [ Homo sapiens (human) ]

    Gene ID: 85476, updated on 27-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    GFM1provided by HGNC
    Official Full Name
    G elongation factor mitochondrial 1provided by HGNC
    Primary source
    HGNC:HGNC:13780
    See related
    Ensembl:ENSG00000168827 MIM:606639; AllianceGenome:HGNC:13780
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EFG; GFM; EFG1; EFGM; EGF1; hEFG1; COXPD1; mtEF-G1
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 17.7), thyroid (RPKM 16.7) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See GFM1 in Genome Data Viewer
    Location:
    3q25.32
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (158644527..158695581)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (161418448..161469504)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (158362316..158413370)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene methylthioadenosine phosphorylase pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:158344231-158344732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:158344733-158345232 Neighboring gene RFK pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:158389654-158390246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:158390247-158390839 Neighboring gene latexin Neighboring gene retinoic acid receptor responder 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:158430992-158432191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:158433310-158433810 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:158447157-158447335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14848 Neighboring gene uncharacterized LOC100287290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:158450198-158450698 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:158478422-158478617 Neighboring gene ribosomal protein L35a pseudogene 9

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Structures of the human mitochondrial ribosome bound to EF-G1 reveal distinct features of mitochondrial translation elongation. Koripella RK, et al. Nat Commun, 2020 Jul 31. PMID 32737313, Free PMC Article
    2. Structural insights into mammalian mitochondrial translation elongation catalyzed by mtEFG1. Kummer E, et al. EMBO J, 2020 Aug 3. PMID 32602580, Free PMC Article
    3. [Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1]. Shen Y, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban, 2020 Oct 25. PMID 33210482, Free PMC Article
    4. Expression and characterization of isoform 1 of human mitochondrial elongation factor G. Bhargava K, et al. Protein Expr Purif, 2004 Oct. PMID 15358359
    5. Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. Barcia G, et al. Hum Mutat, 2020 Feb. PMID 31680380

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
      Title: Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
    2. Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
      Title: Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
    3. Structural insights into mammalian mitochondrial translation elongation catalyzed by mtEFG1.
      Title: Structural insights into mammalian mitochondrial translation elongation catalyzed by mtEFG1.
    4. [Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].
      Title: [Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].
    5. Structures of the human mitochondrial ribosome bound to EF-G1 reveal distinct features of mitochondrial translation elongation.
      Title: Structures of the human mitochondrial ribosome bound to EF-G1 reveal distinct features of mitochondrial translation elongation.
    6. Functional studies demonstrated decreased GFM1 protein levels, suggested disrupted assembly of mitochondrial complexes III and V and decreased activities of mitochondrial complexes I and IV, all indicating combined OXPHOS deficiency.
      Title: Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
    7. In the present study, a nanoparticle modified with EGFP-EGF1 (ENP) was constructed as a multitargeting drug delivery system. The protein binding experiment showed EGFP-EGF1 could bind well to A549 tumor cells and other stromal cells including neo-vascular cells, tumor-associated fibroblasts, and tumor-associated macrophages
      Title: Enhanced Antitumor Activity of EGFP-EGF1-Conjugated Nanoparticles by a Multitargeting Strategy.
    8. The R671C mutation disrupts an inter-subunit interface and could locally destabilize the mutant protein. The second mutation (L398P) disrupted the H-bond network in a rich-beta-sheet domain, and may have a dramatic effect on local structure.
      Title: Toward genotype phenotype correlations in GFM1 mutations.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    10. Sequencing of EFG1 revealed a mutation affecting a conserved residue of the guanosine triphosphate (GTP)-binding domain. These results define a new class of gene defects underlying disorders of oxidative phosphorylation.
      Title: Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
    MedGen: C1836797 OMIM: 609060 GeneReviews: Not available
    		Compare labs

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ12662, FLJ13632, FLJ20773

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables translation elongation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables translation elongation factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translational elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial translational elongation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    elongation factor G, mitochondrial
    Names
    G translation elongation factor, mitochondrial
    mitochondrial elongation factor G
    mitochondrial elongation factor G1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008441.2 RefSeqGene

      Range
      5002..56056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001308164.2 → NP_001295093.1  elongation factor G, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013, AF309777, AF367998, AK092293
      Consensus CDS
      CCDS77851.1
      UniProtKB/TrEMBL
      E5KND7
      Related
      ENSP00000264263.5, ENST00000264263.9
      Conserved Domains (6) summary
      cd01886
      Location:48 → 339
      EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
      PRK12740
      Location:52 → 751
      PRK12740; elongation factor G; Reviewed
      cd01434
      Location:544 → 660
      EFG_mtEFG1_IV; EFG_mtEFG1_IV: domains similar to domain IV of the bacterial translational elongation factor (EF) EF-G. Included in this group is a domain of mitochondrial Elongation factor G1 (mtEFG1) proteins homologous to domain IV of EF-G. Eukaryotic cells harbor 2 ...
      cd04097
      Location:666 → 743
      mtEFG1_C; mtEFG1_C: C-terminus of mitochondrial Elongation factor G1 (mtEFG1)-like proteins found in eukaryotes. Eukaryotic cells harbor 2 protein synthesis systems: one localized in the cytoplasm, the other in the mitochondria. Most factors regulating ...
      cd04091
      Location:372 → 452
      mtEFG1_II_like; Domain II of mitochondrial elongation factor G1-like proteins found in eukaryotes
      cd16262
      Location:466 → 541
      EFG_III; Domain III of Elongation Factor G (EFG)

    2. NM_001308166.2 → NP_001295095.1  elongation factor G, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC025033, AF367998, AK000780
      Consensus CDS
      CCDS82867.1
      UniProtKB/TrEMBL
      C9IZ01
      Related
      ENSP00000418755.1, ENST00000478576.5
      Conserved Domains (5) summary
      cd01886
      Location:48 → 320
      EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
      pfam00009
      Location:44 → 319
      GTP_EFTU; Elongation factor Tu GTP binding domain
      cd04091
      Location:353 → 433
      mtEFG1_II_like; Domain II of mitochondrial elongation factor G1-like proteins found in eukaryotes
      cd16262
      Location:447 → 522
      EFG_III; Domain III of Elongation Factor G (EFG)
      cl02789
      Location:525 → 588
      EFG_like_IV; Elongation Factor G-like domain IV. This family includes the translational elongation factor termed EF-2 (for Archaea and Eukarya) and EF-G (for Bacteria), ribosomal protection proteins that mediate tetracycline resistance and, an evolutionarily ...

    3. NM_001374355.1 → NP_001361284.1  elongation factor G, mitochondrial isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      UniProtKB/TrEMBL
      E5KND7
      Conserved Domains (1) summary
      PRK12740
      Location:52 → 705
      PRK12740; elongation factor G-like protein EF-G2

    4. NM_001374356.1 → NP_001361285.1  elongation factor G, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      UniProtKB/TrEMBL
      E5KND7
      Conserved Domains (1) summary
      PRK12740
      Location:52 → 693
      PRK12740; elongation factor G-like protein EF-G2

    5. NM_001374357.1 → NP_001361286.1  elongation factor G, mitochondrial isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      UniProtKB/TrEMBL
      E5KND7
      Conserved Domains (1) summary
      PRK12740
      Location:1 → 657
      PRK12740; elongation factor G-like protein EF-G2

    6. NM_001374358.1 → NP_001361287.1  elongation factor G, mitochondrial isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (2) summary
      PRK12740
      Location:62 → 579
      PRK12740; elongation factor G-like protein EF-G2
      cl38936
      Location:45 → 71
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    7. NM_001374359.1 → NP_001361288.1  elongation factor G, mitochondrial isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (1) summary
      PRK12740
      Location:1 → 543
      PRK12740; elongation factor G-like protein EF-G2

    8. NM_001374360.1 → NP_001361289.1  elongation factor G, mitochondrial isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (1) summary
      PRK12740
      Location:1 → 525
      PRK12740; elongation factor G-like protein EF-G2

    9. NM_001374361.1 → NP_001361290.1  elongation factor G, mitochondrial isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (1) summary
      PRK12740
      Location:5 → 504
      PRK12740; elongation factor G-like protein EF-G2

    10. NM_024996.7 → NP_079272.4  elongation factor G, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_079272.4

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Consensus CDS
      CCDS33885.1
      UniProtKB/Swiss-Prot
      A6NCI9, B2RCB9, B3KRW1, Q6GTN2, Q96RP9, Q96T39
      UniProtKB/TrEMBL
      E5KND5, E5KND7
      Related
      ENSP00000419038.1, ENST00000486715.6
      Conserved Domains (1) summary
      PRK12740
      Location:52 → 732
      PRK12740; elongation factor G-like protein EF-G2

    RNA

    1. NR_164499.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013

    2. NR_164500.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013

    3. NR_164501.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013

    4. NR_164502.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Related
      ENST00000478254.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      158644527..158695581
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      161418448..161469504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96RP9.2 GenPept UniProtKB/Swiss-Prot:Q96RP9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous