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    Efl1 elongation factor like GTPase 1 [ Mus musculus (house mouse) ]

    Gene ID: 101592, updated on 12-May-2024

    Summary

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    Official Symbol
    Efl1provided by MGI
    Official Full Name
    elongation factor like GTPase 1provided by MGI
    Primary source
    MGI:MGI:2141969
    See related
    Ensembl:ENSMUSG00000038563 AllianceGenome:MGI:2141969
    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
    Eftud1; D7Ertd791e; 4932434J20Rik; 6030468D11Rik
    Summary
    Predicted to enable GTPase activity and ribosome binding activity. Predicted to be involved in GTP metabolic process and mature ribosome assembly. Predicted to act upstream of or within ribosome biogenesis and translational elongation. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytosol. Is expressed in head. Human ortholog(s) of this gene implicated in Shwachman-Diamond syndrome. Orthologous to human EFL1 (elongation factor like GTPase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 5.7), CNS E11.5 (RPKM 3.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Efl1 in Genome Data Viewer
    Location:
    7 D3; 7 47.25 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (82297811..82427060)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (82648603..82777852)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene ADAMTS-like 3 Neighboring gene stabilizer of axonemal microtubules 2 Neighboring gene VISTA enhancer mm1514 Neighboring gene RIKEN cDNA 4933406J10 gene Neighboring gene STARR-seq mESC enhancer starr_19388 Neighboring gene STARR-seq mESC enhancer starr_19392 Neighboring gene RIKEN cDNA 1700010L04 gene Neighboring gene predicted gene, 29796 Neighboring gene STARR-seq mESC enhancer starr_19393 Neighboring gene predicted gene, 36584

    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. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome. Tan S, et al. Blood, 2019 Jul 18. PMID 31151987, Free PMC Article
    2. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Lee S, et al. Blood, 2021 Nov 25. PMID 34115847
    3. Novel gene function revealed by mouse mutagenesis screens for models of age-related disease. Potter PK, et al. Nat Commun, 2016 Aug 18. PMID 27534441, Free PMC Article
    4. Identification and analysis of genes from the mouse otic vesicle and their association with developmental subprocesses through in situ hybridization. Powles N, et al. Dev Biol, 2004 Apr 1. PMID 15031102
    5. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Finch AJ, et al. Genes Dev, 2011 May 1. PMID 21536732, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Euphorbia factor L1 suppresses breast cancer liver metastasis via DDR1-mediated immune infiltration.
      Title: Euphorbia factor L1 suppresses breast cancer liver metastasis via DDR1-mediated immune infiltration.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ribosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ribosome binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables translation elongation factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in GTP metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cytosolic ribosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytosolic ribosome assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within translational elongation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ribonucleoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    elongation factor-like GTPase 1
    Names
    elongation factor Tu GTP binding domain containing 1
    elongation factor Tu GTP-binding domain-containing protein 1
    elongation factor like GPTase 1
    elongation factor-like 1

    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_001159672.1 → NP_001153144.1  elongation factor-like GTPase 1

      See identical proteins and their annotated locations for NP_001153144.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC132142, AC138270, AK028676
      Consensus CDS
      CCDS21410.1
      UniProtKB/Swiss-Prot
      Q80W46, Q8C0D5, Q8C198, Q8K0B8
      Related
      ENSMUSP00000137061.2, ENSMUST00000179489.8
      Conserved Domains (6) summary
      cd01885
      Location:20 → 253
      EF2; Elongation Factor 2 (EF2) in archaea and eukarya
      cd01681
      Location:687 → 993
      aeEF2_snRNP_like_IV; This family represents domain IV of archaeal and eukaryotic elongation factor 2 (aeEF-2) and of an evolutionarily conserved U5 snRNP-specific protein. U5 snRNP is a GTP-binding factor closely related to the ribosomal translocase EF-2. In complex with GTP, ...
      cd04096
      Location:990 → 1068
      eEF2_snRNP_like_C; eEF2_snRNP_like_C: this family represents a C-terminal domain of eukaryotic elongation factor 2 (eEF-2) and a homologous domain of the spliceosomal human 116kD U5 small nuclear ribonucleoprotein (snRNP) protein (U5-116 kD) and, its yeast counterpart ...
      PTZ00416
      Location:1 → 1110
      PTZ00416; elongation factor 2; Provisional
      cd16268
      Location:505 → 600
      EF2_II; Domain II of Elongation Factor 2
      cd16261
      Location:616 → 687
      EF2_snRNP_III; Domain III of Elongation Factor 2 (EF2)

    2. NM_175317.3 → NP_780526.2  elongation factor-like GTPase 1

      See identical proteins and their annotated locations for NP_780526.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein
      Source sequence(s)
      AC132142, AC138270, AK028676
      Consensus CDS
      CCDS21410.1
      UniProtKB/Swiss-Prot
      Q80W46, Q8C0D5, Q8C198, Q8K0B8
      Related
      ENSMUSP00000046046.4, ENSMUST00000039881.4
      Conserved Domains (6) summary
      cd01885
      Location:20 → 253
      EF2; Elongation Factor 2 (EF2) in archaea and eukarya
      cd01681
      Location:687 → 993
      aeEF2_snRNP_like_IV; This family represents domain IV of archaeal and eukaryotic elongation factor 2 (aeEF-2) and of an evolutionarily conserved U5 snRNP-specific protein. U5 snRNP is a GTP-binding factor closely related to the ribosomal translocase EF-2. In complex with GTP, ...
      cd04096
      Location:990 → 1068
      eEF2_snRNP_like_C; eEF2_snRNP_like_C: this family represents a C-terminal domain of eukaryotic elongation factor 2 (eEF-2) and a homologous domain of the spliceosomal human 116kD U5 small nuclear ribonucleoprotein (snRNP) protein (U5-116 kD) and, its yeast counterpart ...
      PTZ00416
      Location:1 → 1110
      PTZ00416; elongation factor 2; Provisional
      cd16268
      Location:505 → 600
      EF2_II; Domain II of Elongation Factor 2
      cd16261
      Location:616 → 687
      EF2_snRNP_III; Domain III of Elongation Factor 2 (EF2)

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      82297811..82427060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030241945.2 → XP_030097805.1  elongation factor-like GTPase 1 isoform X2

      Conserved Domains (1) summary
      cl30786
      Location:166 → 771
      FusA; Translation elongation factor EF-G, a GTPase [Translation, ribosomal structure and biogenesis]

    2. XM_030241943.2 → XP_030097803.1  elongation factor-like GTPase 1 isoform X1

      Conserved Domains (1) summary
      cl30786
      Location:2 → 836
      FusA; Translation elongation factor EF-G, a GTPase [Translation, ribosomal structure and biogenesis]

    3. XM_006507160.4 → XP_006507223.1  elongation factor-like GTPase 1 isoform X1

      Conserved Domains (1) summary
      cl30786
      Location:2 → 836
      FusA; Translation elongation factor EF-G, a GTPase [Translation, ribosomal structure and biogenesis]

    4. XM_030241944.2 → XP_030097804.1  elongation factor-like GTPase 1 isoform X2

      Conserved Domains (1) summary
      cl30786
      Location:166 → 771
      FusA; Translation elongation factor EF-G, a GTPase [Translation, ribosomal structure and biogenesis]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C0D5.1 GenPept UniProtKB/Swiss-Prot:Q8C0D5

    Gene LinkOut

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