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    Guf1 GUF1 homolog, GTPase [ Mus musculus (house mouse) ]

    Gene ID: 231279, updated on 12-May-2024

    Summary

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    Official Symbol
    Guf1provided by MGI
    Official Full Name
    GUF1 homolog, GTPaseprovided by MGI
    Primary source
    MGI:MGI:2140726
    See related
    Ensembl:ENSMUSG00000029208 AllianceGenome:MGI:2140726
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    EF-4; mtEF4; 4631409J12
    Summary
    Predicted to enable mitochondrial ribosome binding activity. Predicted to be involved in positive regulation of translation. Predicted to act upstream of or within translation. Located in mitochondrion. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 40. Orthologous to human GUF1 (GTP binding elongation factor GUF1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E18 (RPKM 9.9), CNS E14 (RPKM 9.2) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 C3.1; 5 37.13 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (69714255..69731995)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (69556910..69574652)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene 5867 Neighboring gene STARR-seq mESC enhancer starr_13338 Neighboring gene STARR-positive B cell enhancer ABC_E4760 Neighboring gene STARR-seq mESC enhancer starr_13339 Neighboring gene Yip1 domain family, member 7 Neighboring gene glucosamine-6-phosphate deaminase 2 Neighboring gene predicted gene, 26044

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mammalian elongation factor 4 regulates mitochondrial translation essential for spermatogenesis. Gao Y, et al. Nat Struct Mol Biol, 2016 May. PMID 27065197
    2. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
    3. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    5. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mitochondrial ribosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA 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
    GUF1 GTPase homolog
    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.

    mRNA and Protein(s)

    1. NM_001310631.1 → NP_001297560.1  translation factor Guf1, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001297560.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK028454, AK032597, AK081776, AK084627, AK160956
      Consensus CDS
      CCDS80296.1
      UniProtKB/TrEMBL
      G3UWY0
      Related
      ENSMUSP00000031113.7, ENSMUST00000031113.13
      Conserved Domains (6) summary
      cd01890
      Location:51 → 228
      LepA; LepA also known as Elongation Factor 4 (EF4)
      PRK05433
      Location:41 → 559
      PRK05433; GTP-binding protein LepA; Provisional
      cd03709
      Location:365 → 444
      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:452 → 558
      LepA_C; GTP-binding protein LepA C-terminus
      cl02787
      Location:236 → 295
      Translation_Factor_II_like; Domain II of Elongation factor Tu (EF-Tu)-like proteins
      cl20541
      Location:296 → 324
      EFG_III-like; Domain III of Elongation factor G (EF-G) and related proteins

    2. NM_172711.3 → NP_766299.1  translation factor Guf1, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_766299.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK028454, AK032597, AK081776, AK084627, AK160956
      Consensus CDS
      CCDS19322.1
      UniProtKB/Swiss-Prot
      Q6PEN7, Q8BPS6, Q8C3X4
      UniProtKB/TrEMBL
      G3UWY0
      Related
      ENSMUSP00000084480.5, ENSMUST00000087228.11
      Conserved Domains (6) summary
      cd01890
      Location:51 → 228
      LepA; LepA also known as Elongation Factor 4 (EF4)
      PRK05433
      Location:41 → 647
      PRK05433; GTP-binding protein LepA; Provisional
      cd03709
      Location:453 → 532
      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:540 → 646
      LepA_C; GTP-binding protein LepA C-terminus
      cd03699
      Location:236 → 321
      EF4_II; Domain II of Elongation Factor 4 (EF4)
      cd16260
      Location:337 → 412
      EF4_III; Domain III of Elongation Factor 4 (EF4)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      69714255..69731995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503948.4 → XP_006504011.1  translation factor Guf1, mitochondrial isoform X1

      Conserved Domains (1) summary
      PRK05433
      Location:1 → 341
      PRK05433; GTP-binding protein LepA; Provisional

    RNA

    1. XR_004942496.1 RNA Sequence

    2. XR_004942497.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182768.1: Suppressed sequence

      Description
      NM_182768.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C3X4.1 GenPept UniProtKB/Swiss-Prot:Q8C3X4

    Gene LinkOut

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

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