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

Gene ID: 85476, updated on 7-Apr-2024

Summary

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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
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Genomic context

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Location:
3q25.32
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (158644527..158695581)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (161418448..161469504)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family. Khan AU, et al. Am J Med Genet A, 2022 Sep. PMID 35703069
  2. [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
  3. 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
  4. Structural insights into mammalian mitochondrial translation elongation catalyzed by mtEFG1. Kummer E, et al. EMBO J, 2020 Aug 3. PMID 32602580, Free PMC Article
  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 (73) 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

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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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
elongation factor G, mitochondrial
Names
G translation elongation factor, mitochondrial
mitochondrial elongation factor G
mitochondrial elongation factor G1

NCBI Reference Sequences (RefSeq)

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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_2023_10

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

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