• Gene id: 3364

Gene Summary

• Gene Symbol: HUS1   Gene   UCSC   Ensembl
• Aliases: hHUS1
• Gene name: HUS1 checkpoint clamp component
• Alternate names: checkpoint protein HUS1, HUS1 checkpoint homolog, hus1+-like protein,
• Gene location: 7p12.3 (47979618: 47962979)     Exons: 10     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint protein
• OMIM: 602967

Protein Summary

• Protein general information: O60921  
  • Name: Checkpoint protein HUS1 (hHUS1)
  • Length: 280  
  • Mass: 31691
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MKFRAKIVDGACLNHFTRISNMIAKLAKTCTLRISPDKLNFILCDKLANGGVSMWCELEQENFFNEFQMEGVSAE
  NNEIYLELTSENLSRALKTAQNARALKIKLTNKHFPCLTVSVELLSMSSSSRIVTHDIPIKVIPRKLWKDLQEPV
  VPDPDVSIYLPVLKTMKSVVEKMKNISNHLVIEANLDGELNLKIETELVCVTTHFKDLGNPPLASESTHEDRNVE
  HMAEVHIDIRKLLQFLAGQQVNPTKALCNIVNNKMVHFDLLHEDVSLQYFIPALS

• Structural information:
  • Interpro: IPR016580  IPR007150  
  • PDB: 3A1J 3G65 3GGR 6J8Y
  • PDBsum: 3A1J 3G65 3GGR 6J8Y
  • DIP: 40929
  • STRING: ENSP00000258774
• Other Databases: GeneCards:  HUS1  Malacards:  HUS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006289	nucleotide-excision repair	IBA	biological process
GO:0000723	telomere maintenance	IBA	biological process
GO:0044778	meiotic DNA integrity checkpoint	IBA	biological process
GO:0035861	site of double-strand break	IBA	cellular component
GO:0033314	mitotic DNA replication checkpoint	IBA	biological process
GO:0031573	intra-S DNA damage checkpoint	IBA	biological process
GO:0030896	checkpoint clamp complex	IBA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0071479	cellular response to ionizing radiation	IDA	biological process
GO:0000077	DNA damage checkpoint	IMP	biological process
GO:0000077	DNA damage checkpoint	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0030896	checkpoint clamp complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	TAS	biological process
GO:0000077	DNA damage checkpoint	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009792	embryo development ending in birth or egg hatching	IEA	biological process
GO:0009411	response to UV	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0008156	negative regulation of DNA replication	IEA	biological process
GO:0007093	mitotic cell cycle checkpoint	IEA	biological process
GO:0000077	DNA damage checkpoint	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04218	Cellular senescence

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881