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    GUF1 GTP binding elongation factor GUF1 [ Homo sapiens (human) ]

    Gene ID: 60558, updated on 14-Nov-2024

    Summary

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    Official Symbol
    GUF1provided by HGNC
    Official Full Name
    GTP binding elongation factor GUF1provided by HGNC
    Primary source
    HGNC:HGNC:25799
    See related
    Ensembl:ENSG00000151806 MIM:617064; AllianceGenome:HGNC:25799
    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
    EF4; EF-4; DEE40; EIEE40
    Summary
    This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in brain (RPKM 5.7), testis (RPKM 4.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GUF1 in Genome Data Viewer
    Location:
    4p12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (44678420..44700928)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (44645331..44667849)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (44680437..44702945)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene potassium channel tetramerization domain containing 8 Neighboring gene uncharacterized LOC107986275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:44665473-44665974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:44665975-44666474 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:44679656-44680544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15397 Neighboring gene Yip1 domain family member 7 Neighboring gene Sharpr-MPRA regulatory region 4028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21527 Neighboring gene uncharacterized LOC105374439 Neighboring gene glucosamine-6-phosphate deaminase 2 Neighboring gene uncharacterized LOC112268465

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Homozygous variant in the GUF1 gene identified in the three siblings with West syndrome.
      Title: West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
    2. The structure provides insights into the tRNA-remodeling function of EF-4 on the ribosome and suggests that the displacement of the CCA-end of the A-site tRNA away from the peptidyl transferase center (PTC) is functionally significant.
      Title: Elongation factor 4 remodels the A-site tRNA on the ribosome.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 40
    MedGen: C4310737 OMIM: 617065 GeneReviews: Not available
    		not available

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ13220

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables membrane scission GTPase motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mitochondrial ribosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    translation factor GUF1, mitochondrial
    Names
    GTP-binding protein GUF1 homolog
    GTPase of unknown function 1
    GUF1 homolog, GTPase
    elongation factor 4 homolog
    ribosomal back-translocase

    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_051569.1 RefSeqGene

      Range
      5026..27534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001345867.2 → NP_001332796.1  translation factor GUF1, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC096586
      Conserved Domains (1) summary
      cl27769
      Location:1 → 341
      GTP_EFTU; Elongation factor Tu GTP binding domain

    2. NM_001345868.2 → NP_001332797.1  translation factor GUF1, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC096586
      Conserved Domains (6) summary
      cd01890
      Location:69 → 246
      LepA; LepA also known as Elongation Factor 4 (EF4)
      PRK05433
      Location:64 → 625
      PRK05433; GTP-binding protein LepA; Provisional
      cd03709
      Location:471 → 550
      lepA_C; lepA_C: This family represents the C-terminal region of LepA, a GTP-binding protein localized in the cytoplasmic membrane. LepA is ubiquitous in Bacteria and Eukaryota (e.g. Saccharomyces cerevisiae GUF1p), but is missing from Archaea. LepA exhibits ...
      pfam06421
      Location:572 → 624
      LepA_C; GTP-binding protein LepA C-terminus
      cd03699
      Location:254 → 339
      EF4_II; Domain II of Elongation Factor 4 (EF4)
      cd16260
      Location:355 → 430
      EF4_III; Domain III of Elongation Factor 4 (EF4)

    3. NM_001345869.2 → NP_001332798.1  translation factor GUF1, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC096586
      Conserved Domains (1) summary
      cl27769
      Location:1 → 341
      GTP_EFTU; Elongation factor Tu GTP binding domain

    4. NM_021927.3 → NP_068746.2  translation factor GUF1, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_068746.2

      Status: REVIEWED

      Source sequence(s)
      AC096586, AK025248, BC036768, DA997676
      Consensus CDS
      CCDS3468.1
      UniProtKB/Swiss-Prot
      Q5XKM8, Q8N442, Q9H710, Q9H8U4
      Related
      ENSP00000281543.5, ENST00000281543.6
      Conserved Domains (6) summary
      cd01890
      Location:69 → 246
      LepA; LepA also known as Elongation Factor 4 (EF4)
      PRK05433
      Location:64 → 665
      PRK05433; GTP-binding protein LepA; Provisional
      cd03709
      Location:471 → 550
      lepA_C; lepA_C: This family represents the C-terminal region of LepA, a GTP-binding protein localized in the cytoplasmic membrane. LepA is ubiquitous in Bacteria and Eukaryota (e.g. Saccharomyces cerevisiae GUF1p), but is missing from Archaea. LepA exhibits ...
      pfam06421
      Location:558 → 664
      LepA_C; GTP-binding protein LepA C-terminus
      cd03699
      Location:254 → 339
      EF4_II; Domain II of Elongation Factor 4 (EF4)
      cd16260
      Location:355 → 430
      EF4_III; Domain III of Elongation Factor 4 (EF4)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      44678420..44700928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454178.2 → XP_024309946.1  translation factor GUF1, mitochondrial isoform X1

      Conserved Domains (1) summary
      PRK05433
      Location:14 → 615
      PRK05433; GTP-binding protein LepA; Provisional

    2. XM_047416063.1 → XP_047272019.1  translation factor GUF1, mitochondrial isoform X2

    3. XM_047416065.1 → XP_047272021.1  translation factor GUF1, mitochondrial isoform X4

      Related
      ENST00000506793.5

    4. XM_047416064.1 → XP_047272020.1  translation factor GUF1, mitochondrial isoform X3

    5. XM_047416066.1 → XP_047272022.1  translation factor GUF1, mitochondrial isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      44645331..44667849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350695.1 → XP_054206670.1  translation factor GUF1, mitochondrial isoform X1

    2. XM_054350696.1 → XP_054206671.1  translation factor GUF1, mitochondrial isoform X2

    3. XM_054350698.1 → XP_054206673.1  translation factor GUF1, mitochondrial isoform X4

    4. XM_054350697.1 → XP_054206672.1  translation factor GUF1, mitochondrial isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N442.1 GenPept UniProtKB/Swiss-Prot:Q8N442

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