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

Summary

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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Targeted (4) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hus1 (e-PCR), detects polymorphism
- UniSTS:143436

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AF076845 (e-PCR)
- UniSTS:163492

AF076845 (e-PCR)
- UniSTS:180152

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	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	ISO Inferred from Sequence Orthology more info
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

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)

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
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
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

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