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

Gene ID: 101592, updated on 2-Nov-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 cytosolic ribosome assembly. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytosol. Is expressed in head and liver. 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, Nov 2024]
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 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. Euphorbia factor L1 suppresses breast cancer liver metastasis via DDR1-mediated immune infiltration. Jiang D, et al. Aging (Albany NY), 2023 Sep 14. PMID 37709489, Free PMC Article
  2. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome. Tan S, et al. Blood, 2019 Jul 18. PMID 31151987, Free PMC Article
  3. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Lee S, et al. Blood, 2021 Nov 25. PMID 34115847
  4. 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
  5. 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

See all (24) 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 GTPase activity ISS
Inferred from Sequence or Structural Similarity
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 ribosome binding ISS
Inferred from Sequence or Structural Similarity
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 GTP metabolic process ISS
Inferred from Sequence or Structural Similarity
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
  
involved_in cytosolic ribosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in 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

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