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
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair (PubMed:21659603). The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex (PubMed:
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Cellular senescence","HDR through Single Strand Annealing (SSA)","Processing of DNA double-strand break ends","Presynaptic phase of homologous DNA pairing and strand exchange","Regulation of TP53 Activity through Phosphorylation","G2\/M DNA damage checkpoint","Activation of ATR in response to replication stress"]
["Cellular senescence","HDR through Single Strand Annealing (SSA)","Processing of DNA double-strand break ends","Presynaptic phase of homologous DNA pairing and strand exchange","Regulation of TP53 Activity through Phosphorylation","G2\/M DNA damage checkpoint","Activation of ATR in response to replication stress"]
["Cellular senescence","HDR through Single Strand Annealing (SSA)","Processing of DNA double-strand break ends","Presynaptic phase of homologous DNA pairing and strand exchange","Regulation of TP53 Activity through Phosphorylation","G2\/M DNA damage checkpoint","Activation of ATR in response to replication stress"]
["HDR through Single Strand Annealing (SSA)","Processing of DNA double-strand break ends","Presynaptic phase of homologous DNA pairing and strand exchange","Regulation of TP53 Activity through Phosphorylation","G2\/M DNA damage checkpoint","Activation of ATR in response to replication stress"]
["HDR through Single Strand Annealing (SSA)","Processing of DNA double-strand break ends","Presynaptic phase of homologous DNA pairing and strand exchange","Regulation of TP53 Activity through Phosphorylation","G2\/M DNA damage checkpoint","Activation of ATR in response to replication stress"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to HUS1 (see Related Genes above), that are NOT already directly curated for HUS1 itself -- a lead worth checking, not a confirmed association.