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    Hbs1l Hbs1-like (S. cerevisiae) [ Mus musculus (house mouse) ]

    Gene ID: 56422, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Hbs1lprovided by MGI
    Official Full Name
    Hbs1-like (S. cerevisiae)provided by MGI
    Primary source
    MGI:MGI:1891704
    See related
    Ensembl:ENSMUSG00000019977 AllianceGenome:MGI:1891704
    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
    eRFS; 2810035F15Rik
    Summary
    Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in nuclear-transcribed mRNA catabolic process, no-go decay and rescue of stalled ribosome. Predicted to be part of Dom34-Hbs1 complex. Predicted to be active in cytosolic ribosome. Is expressed in several structures, including central nervous system; limb muscle; liver; lung; and spleen. Human ortholog(s) of this gene implicated in beta thalassemia. Orthologous to human HBS1L (HBS1 like translational GTPase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 10.6), CNS E11.5 (RPKM 9.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hbs1l in Genome Data Viewer
    Location:
    10 A3; 10 9.75 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (21171876..21244788)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (21295979..21368889)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 33671 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:20955106-20955353 Neighboring gene predicted gene, 33728 Neighboring gene STARR-positive B cell enhancer ABC_E6824 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene RIKEN cDNA 4930455C13 gene Neighboring gene predicted gene, 33803 Neighboring gene aldehyde dehydrogenase 8 family, member A1 Neighboring gene STARR-seq mESC enhancer starr_25987 Neighboring gene FK506 binding protein 1a, pseudogene 2

    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. HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells. Luo S, et al. Dis Model Mech, 2024 Aug 1. PMID 38966981, Free PMC Article
    2. The product of the mammalian orthologue of the Saccharomyces cerevisiae HBS1 gene is phylogenetically related to eukaryotic release factor 3 (eRF3) but does not carry eRF3-like activity. Wallrapp C, et al. FEBS Lett, 1998 Dec 4. PMID 9872408
    3. Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation. O'Connell AE, et al. PLoS Genet, 2019 Feb. PMID 30707697, Free PMC Article
    4. RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration. Ishimura R, et al. Science, 2014 Jul 25. PMID 25061210, Free PMC Article
    5. An evolutionarily conserved ribosome-rescue pathway maintains epidermal homeostasis. Liakath-Ali K, et al. Nature, 2018 Apr. PMID 29643507

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Defects in translation-dependent quality control pathways lead to convergent molecular and neurodevelopmental pathology.
      Title: Defects in translation-dependent quality control pathways lead to convergent molecular and neurodevelopmental pathology.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables translation elongation factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in nuclear-transcribed mRNA catabolic process, no-go decay ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in nuclear-transcribed mRNA catabolic process, no-go decay ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rescue of stalled ribosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rescue of stalled ribosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ribosome disassembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ribosome disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of Dom34-Hbs1 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Dom34-Hbs1 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosolic ribosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosolic ribosome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    HBS1-like protein
    Names
    eukaryotic release factor 3

    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_001042593.2 → NP_001036058.1  HBS1-like protein isoform 2

      See identical proteins and their annotated locations for NP_001036058.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC153557
      Consensus CDS
      CCDS87970.1
      UniProtKB/TrEMBL
      Q3TGM7, Q3UJ02
      Related
      ENSMUSP00000020153.10, ENSMUST00000020153.10
      Conserved Domains (5) summary
      cd01883
      Location:257 → 476
      EF1_alpha; Elongation Factor 1-alpha (EF1-alpha) protein family
      COG5256
      Location:251 → 679
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
      pfam08938
      Location:45 → 119
      HBS1_N; HBS1 N-terminus
      cd16267
      Location:482 → 564
      HBS1-like_II; Domain II of Hbs1-like proteins
      cd04093
      Location:569 → 677
      HBS1_C_III; C-terminal domain of Hsp70 subfamily B suppressor 1 (HBS1)

    2. NM_001145209.3 → NP_001138681.1  HBS1-like protein isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate exon for its 3' coding region and 3' UTR, compared to variant (1). This results in a protein (isoform 3) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC153557
      Consensus CDS
      CCDS48513.1
      UniProtKB/TrEMBL
      L7N209, Q5U477
      Related
      ENSMUSP00000090344.7, ENSMUST00000092674.14
      Conserved Domains (1) summary
      pfam08938
      Location:45 → 119
      HBS1_N; HBS1 N-terminus

    3. NM_001429212.1 → NP_001416141.1  HBS1-like protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC153557

    4. NM_001429213.1 → NP_001416142.1  HBS1-like protein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC153557

    5. NM_001429214.1 → NP_001416143.1  HBS1-like protein isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC153557

    6. NM_001429215.1 → NP_001416144.1  HBS1-like protein isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC153557
      UniProtKB/TrEMBL
      J3KMK0

    7. NM_019702.3 → NP_062676.2  HBS1-like protein isoform 1

      See identical proteins and their annotated locations for NP_062676.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC153557
      Consensus CDS
      CCDS35862.1
      UniProtKB/Swiss-Prot
      Q69ZS7, Q91Z32, Q9CVT2, Q9CZ95, Q9WTY5
      UniProtKB/TrEMBL
      Q3UJ02
      Related
      ENSMUSP00000151689.2, ENSMUST00000219915.2
      Conserved Domains (5) summary
      cd01883
      Location:260 → 479
      EF1_alpha; Elongation Factor 1-alpha (EF1-alpha) protein family
      COG5256
      Location:254 → 682
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
      pfam08938
      Location:45 → 119
      HBS1_N; HBS1 N-terminus
      cd16267
      Location:485 → 567
      HBS1-like_II; Domain II of Hbs1-like proteins
      cd04093
      Location:572 → 680
      HBS1_C_III; C-terminal domain of Hsp70 subfamily B suppressor 1 (HBS1)

    RNA

    1. NR_190697.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153557

    2. NR_190698.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153557

    3. NR_190699.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153557

    4. NR_190700.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC153557

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      21171876..21244788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036155898.1 → XP_036011791.1  HBS1-like protein isoform X3

      Conserved Domains (1) summary
      COG5256
      Location:94 → 522
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]

    2. XM_006512803.5 → XP_006512866.1  HBS1-like protein isoform X1

      Conserved Domains (2) summary
      COG5256
      Location:254 → 680
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
      pfam08938
      Location:46 → 113
      HBS1_N; HBS1 N-terminus

    3. XM_036155897.1 → XP_036011790.1  HBS1-like protein isoform X2

      Conserved Domains (1) summary
      COG5256
      Location:94 → 520
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]

    4. XM_036155896.1 → XP_036011789.1  HBS1-like protein isoform X2

      Conserved Domains (1) summary
      COG5256
      Location:94 → 520
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]

    5. XM_006512805.4 → XP_006512868.1  HBS1-like protein isoform X2

      See identical proteins and their annotated locations for XP_006512868.1

      Conserved Domains (1) summary
      COG5256
      Location:94 → 520
      TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]

    RNA

    1. XR_004936225.1 RNA Sequence

    2. XR_380070.1 RNA Sequence

    3. XR_004936226.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q69ZS7.2 GenPept UniProtKB/Swiss-Prot:Q69ZS7

    Gene LinkOut

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

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