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

Gene ID: 56422, updated on 2-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 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

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