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Hus1 HUS1 checkpoint clamp component [ Mus musculus (house mouse) ]

Gene ID: 15574, updated on 2-Nov-2024

Summary

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Official Symbol
Hus1provided by MGI
Official Full Name
HUS1 checkpoint clamp componentprovided by MGI
Primary source
MGI:MGI:1277962
See related
Ensembl:ENSMUSG00000020413 AllianceGenome:MGI:1277962
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
This gene encodes a component of a cell cycle checkpoint complex that causes cell cycle arrest in response to bulky DNA lesions and DNA replication blockage. Together with the proteins Rad9 and Rad1, the encoded protein forms a heterotrimeric complex known as the 9-1-1 complex. Mice lacking the encoded protein develop spontaneous chromosomal abnormalities resulting in embryonic lethality. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 4.3), limb E14.5 (RPKM 3.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Hus1 in Genome Data Viewer
Location:
11 A1; 11 5.74 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (8943137..8961240, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (8993137..9011236, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene polycystic kidney disease 1 like 1 Neighboring gene predicted gene, 40814 Neighboring gene STARR-seq mESC enhancer starr_28552 Neighboring gene predicted gene, 57803 Neighboring gene Sad1 and UNC84 domain containing 3 Neighboring gene predicted gene 11992 Neighboring gene STARR-seq mESC enhancer starr_28553 Neighboring gene uridine phosphorylase 1

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. HUS1 regulates in vivo responses to genotoxic chemotherapies. Balmus G, et al. Oncogene, 2016 Feb 4. PMID 25915840
  2. Telomere and telomerase modulation by the mammalian Rad9/Rad1/Hus1 DNA-damage-checkpoint complex. Francia S, et al. Curr Biol, 2006 Aug 8. PMID 16890531
  3. Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1. Balmus G, et al. Hum Mol Genet, 2012 Aug 1. PMID 22575700, Free PMC Article
  4. The effect of Hus1 on ionizing radiation sensitivity is associated with homologous recombination repair but is independent of nonhomologous end-joining. Wang X, et al. Oncogene, 2006 Mar 23. PMID 16278671
  5. Dual inactivation of Hus1 and p53 in the mouse mammary gland results in accumulation of damaged cells and impaired tissue regeneration. Yazinski SA, et al. Proc Natl Acad Sci U S A, 2009 Dec 15. PMID 19918068, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In vivo miRNA knockout screening identifies miR-190b as a novel tumor suppressor.
    Title: In vivo miRNA knockout screening identifies miR-190b as a novel tumor suppressor.
  2. Whereas Hus1(neo/neo) and Atm(-/-) single mutant mice survived low-dose MMC similar to wild-type controls, Hus1(neo/neo)Atm(-/-) double mutants showed striking MMC hypersensitivity.
    Title: HUS1 regulates in vivo responses to genotoxic chemotherapies.
  3. Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1
    Title: Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1.
  4. HUS1 acts as a component of the canonical 9-1-1 complex during meiotic prophase I to promote DSB repair and further propose that RAD1 and TOPBP1 respond to unsynapsed chromatin through an alternative mechanism that does not require RAD9 or HUS1.
    Title: Conditional inactivation of the DNA damage response gene Hus1 in mouse testis reveals separable roles for components of the RAD9-RAD1-HUS1 complex in meiotic chromosome maintenance.
  5. requirement for Hus1 in the survival and proliferation of mammary epithelium
    Title: Dual inactivation of Hus1 and p53 in the mouse mammary gland results in accumulation of damaged cells and impaired tissue regeneration.
  6. Hus1 is required specifically for one of two separable mammalian checkpoint pathways that respond to distinct forms of genome damage during S phase.
    Title: Critical role for mouse Hus1 in an S-phase DNA damage cell cycle checkpoint.
  7. Hus1 loss leads to chromosomal instability during DNA replication, triggering increased apoptosis and impaired proliferation through p53-independent mechanisms.
    Title: Increased common fragile site expression, cell proliferation defects, and apoptosis following conditional inactivation of mouse Hus1 in primary cultured cells.
  8. we show a requirement for Rad17 and Hus1 to induce G(2) arrest as well as Vpr-induced phosphorylation of histone 2A variant X (H2AX) and formation of nuclear foci containing H2AX and breast cancer susceptibility protein 1
    Title: Human immunodeficiency virus type 1 Vpr-mediated G2 arrest requires Rad17 and Hus1 and induces nuclear BRCA1 and gamma-H2AX focus formation.
  9. identify differential effects of altered Hus1 gene dosage on genome maintenance during in vitro culture, genotoxic stress responses, embryonic development, and adult homeostasis
    Title: Genome maintenance defects in cultured cells and mice following partial inactivation of the essential cell cycle checkpoint gene Hus1.
  10. results indicate that the role of Hus1 affecting the sensitivity of cells to IR-induced killing is independent of nonhomologous end-joining but might be linked to homologous recombination repair
    Title: The effect of Hus1 on ionizing radiation sensitivity is associated with homologous recombination repair but is independent of nonhomologous end-joining.
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Variation

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Alleles

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

Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA damage checkpoint signaling ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to ionizing radiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to ionizing radiation ISO
Inferred from Sequence Orthology
more info
  
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in embryo development ending in birth or egg hatching IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in meiotic DNA integrity checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic DNA replication checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic intra-S DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within protein phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within response to UV IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within response to UV IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of checkpoint clamp complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of checkpoint clamp complex IEA
Inferred from Electronic Annotation
more info
  
part_of checkpoint clamp complex ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
checkpoint protein HUS1
Names
Hus1 homolog

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_001303532.1 → NP_001290461.1  checkpoint protein HUS1 isoform 2

    See identical proteins and their annotated locations for NP_001290461.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AK046152, AL669837, BB611267, DV650764
    UniProtKB/Swiss-Prot
    O70543, Q6P8H5, Q8BQY8
    Conserved Domains (1) summary
    pfam04005
    Location:1 → 280
    Hus1; Hus1-like protein

  2. NM_001303610.1 → NP_001290539.1  checkpoint protein HUS1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate segment in the 5' region, uses an alternate in-frame splice site in the coding region and uses a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK051839, AL669837, BB611267, DV650764
    Conserved Domains (1) summary
    pfam04005
    Location:1 → 259
    Hus1; Hus1-like protein

  3. NM_001432036.1 → NP_001418965.1  checkpoint protein HUS1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL669837

  4. NM_008316.5 → NP_032342.1  checkpoint protein HUS1 isoform 1

    See identical proteins and their annotated locations for NP_032342.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK135922, AL669837, BB611267, DV650764
    Consensus CDS
    CCDS24429.1
    UniProtKB/Swiss-Prot
    Q8BQY8
    Related
    ENSMUSP00000020683.4, ENSMUST00000020683.10
    Conserved Domains (1) summary
    pfam04005
    Location:1 → 281
    Hus1; Hus1-like protein

RNA

  1. NR_130178.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because alternate splicing downstream of the translational stop site renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL669837, BB611267, DV650764, Y16894

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_000077.7 Reference GRCm39 C57BL/6J

    Range
    8943137..8961240 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006514531.5 → XP_006514594.1  checkpoint protein HUS1 isoform X1

    UniProtKB/Swiss-Prot
    Q8BQY8
    Related
    ENSMUST00000139877.8
    Conserved Domains (1) summary
    pfam04005
    Location:1 → 285
    Hus1; Hus1-like protein

RNA

  1. XR_004936781.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BQY8.1 GenPept UniProtKB/Swiss-Prot:Q8BQY8

Gene LinkOut

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

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