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

    Gene ID: 85476, updated on 26-Jul-2021

    Summary

    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See GFM1 in Genome Data Viewer
    Location:
    3q25.32
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (158644527..158695581)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (158362316..158413370)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene myeloid leukemia factor 1 Neighboring gene methylthioadenosine phosphorylase pseudogene 1 Neighboring gene latexin Neighboring gene uncharacterized LOC112268457 Neighboring gene retinoic acid receptor responder 1 Neighboring gene uncharacterized LOC100287290 Neighboring gene ribosomal protein L35a pseudogene 9

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_008441.1 RefSeqGene

      Range
      5001..53045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013, AF309777, AF367998, AK092293
      Consensus CDS
      CCDS77851.1
      UniProtKB/Swiss-Prot
      Q96RP9
      Related
      ENSP00000264263.5, ENST00000264263.9
      Conserved Domains (6) summary
      cd01886
      Location:48339
      EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
      PRK12740
      Location:52751
      PRK12740; elongation factor G; Reviewed
      cd01434
      Location:544660
      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:666743
      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:372452
      mtEFG1_II_like; Domain II of mitochondrial elongation factor G1-like proteins found in eukaryotes
      cd16262
      Location:466541
      EFG_III; Domain III of Elongation Factor G (EFG)
    2. NM_001308166.2NP_001295095.1  elongation factor G, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC025033, AF367998, AK000780
      Consensus CDS
      CCDS82867.1
      UniProtKB/Swiss-Prot
      Q96RP9
      UniProtKB/TrEMBL
      C9IZ01
      Related
      ENSP00000418755.1, ENST00000478576.5
      Conserved Domains (5) summary
      cd01886
      Location:48320
      EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
      pfam00009
      Location:44319
      GTP_EFTU; Elongation factor Tu GTP binding domain
      cd04091
      Location:353433
      mtEFG1_II_like; Domain II of mitochondrial elongation factor G1-like proteins found in eukaryotes
      cd16262
      Location:447522
      EFG_III; Domain III of Elongation Factor G (EFG)
      cl02789
      Location:525588
      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_001374355.1NP_001361284.1  elongation factor G, mitochondrial isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (1) summary
      PRK12740
      Location:52705
      PRK12740; elongation factor G-like protein EF-G2
    4. NM_001374356.1NP_001361285.1  elongation factor G, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (1) summary
      PRK12740
      Location:52693
      PRK12740; elongation factor G-like protein EF-G2
    5. NM_001374357.1NP_001361286.1  elongation factor G, mitochondrial isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (1) summary
      PRK12740
      Location:1657
      PRK12740; elongation factor G-like protein EF-G2
    6. NM_001374358.1NP_001361287.1  elongation factor G, mitochondrial isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (2) summary
      PRK12740
      Location:62579
      PRK12740; elongation factor G-like protein EF-G2
      cl38936
      Location:4571
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    7. NM_001374359.1NP_001361288.1  elongation factor G, mitochondrial isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (1) summary
      PRK12740
      Location:1543
      PRK12740; elongation factor G-like protein EF-G2
    8. NM_001374360.1NP_001361289.1  elongation factor G, mitochondrial isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (1) summary
      PRK12740
      Location:1525
      PRK12740; elongation factor G-like protein EF-G2
    9. NM_001374361.1NP_001361290.1  elongation factor G, mitochondrial isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC025033, AC080013
      Conserved Domains (1) summary
      PRK12740
      Location:5504
      PRK12740; elongation factor G-like protein EF-G2
    10. NM_024996.7NP_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
      Q96RP9
      UniProtKB/TrEMBL
      E5KND5
      Related
      ENSP00000419038.1, ENST00000486715.6
      Conserved Domains (1) summary
      PRK12740
      Location:52732
      PRK12740; elongation factor G; Reviewed

    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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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