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

    Gene ID: 15574, updated on 12-Mar-2017
    Official Symbol
    Hus1provided by MGI
    Official Full Name
    HUS1 checkpoint clamp componentprovided by MGI
    Primary source
    MGI:MGI:1277962
    See related
    Ensembl:ENSMUSG00000020413 Vega:OTTMUSG00000005146
    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]
    Orthologs
    Location:
    11 A1; 11 5.74 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 11 NC_000077.6 (8993137..9011538, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (8893145..8911140, complement)

    Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene polycystic kidney disease 1 like 1 Neighboring gene predicted gene, 40815 Neighboring gene predicted gene, 40814 Neighboring gene predicted gene, 46271 Neighboring gene Sad1 and UNC84 domain containing 3 Neighboring gene predicted gene 11992 Neighboring gene uridine phosphorylase 1

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    DNA damage checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA damage checkpoint ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
     
    double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    embryo development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intra-S DNA damage checkpoint IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    meiotic DNA integrity checkpoint IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitotic DNA replication checkpoint IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitotic cell cycle checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    checkpoint clamp complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    site of double-strand break IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    checkpoint protein HUS1
    Names
    Hus1 homolog

    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_001303532.1NP_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
      Q8BQY8
      Conserved Domains (1) summary
      pfam04005
      Location:1280
      Hus1; Hus1-like protein
    2. NM_001303610.1NP_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:1259
      Hus1; Hus1-like protein
    3. NM_008316.5NP_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, OTTMUSP00000005348, ENSMUST00000020683, OTTMUST00000011503
      Conserved Domains (1) summary
      pfam04005
      Location:1281
      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: Mus musculus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000077.6 Reference GRCm38.p4 C57BL/6J

      Range
      8993137..9011538 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514531.3XP_006514594.1  checkpoint protein HUS1 isoform X1

      See identical proteins and their annotated locations for XP_006514594.1

      UniProtKB/Swiss-Prot
      Q8BQY8
      Conserved Domains (1) summary
      pfam04005
      Location:1254
      Hus1; Hus1-like protein
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