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

Gene ID: 231279, updated on 21-Apr-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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (3) 

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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