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

Gene ID: 15574, updated on 23-Jun-2021

Summary

Official Symbol
Hus1provided by MGI
Official Full Name
HUS1 checkpoint clamp componentprovided by MGI
Primary source
MGI:MGI:1277962
See related
Ensembl:ENSMUSG00000020413
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
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Genomic context

See Hus1 in Genome Data Viewer
Location:
11 A1; 11 5.74 cM
Exon count:
9
Annotation release Status Assembly Chr Location
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (8893145..8911140, 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 uncharacterized LOC118567887 Neighboring gene Sad1 and UNC84 domain containing 3 Neighboring gene predicted gene 11992 Neighboring gene uridine phosphorylase 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
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
PubMed 
involved_in mitotic DNA replication checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitotic intra-S DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
part_of checkpoint clamp complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm 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
 
is_active_in site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001303532.1NP_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
    ENSMUSP00000020683.4, ENSMUST00000020683.10
    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 109 details...Open this link in a new tab

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_006514531.5XP_006514594.1  checkpoint protein HUS1 isoform X1

    See identical proteins and their annotated locations for XP_006514594.1

    UniProtKB/Swiss-Prot
    Q8BQY8
    Related
    ENSMUST00000139877.8
    Conserved Domains (1) summary
    pfam04005
    Location:1285
    Hus1; Hus1-like protein

RNA

  1. XR_004936781.1 RNA Sequence

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