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Gene Gene information from NCBI Gene database.
Entrez ID 3364
Gene name HUS1 checkpoint clamp component
Gene symbol HUS1
Synonyms (NCBI Gene)
hHUS1
Chromosome 7
Chromosome location 7p12.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
384 Show/Hide all (384)
miRTarBase ID miRNA Experiments Reference
MIRT047873 hsa-miR-30c-5p CLASH 23622248
MIRT679594 hsa-miR-4761-5p HITS-CLIP 23824327
MIRT679593 hsa-miR-383-3p HITS-CLIP 23824327
MIRT679592 hsa-miR-4284 HITS-CLIP 23824327
MIRT679591 hsa-miR-24-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33 Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IEA
GO:0000077 Process DNA damage checkpoint signaling IEA
GO:0000077 Process DNA damage checkpoint signaling IMP 21659603
GO:0000077 Process DNA damage checkpoint signaling NAS 19464297
GO:0000077 Process DNA damage checkpoint signaling TAS 9878245
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603760 5309 ENSG00000136273
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60921
Protein name Checkpoint protein HUS1 (hHUS1)
Protein function 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:
PDB 3A1J , 3G65 , 3GGR , 6J8Y , 7Z6H , 8GNN , 8WU8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04005 Hus1 1 → 280 Hus1-like protein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10777662}.
Sequence
Sequence length 280
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Cellular senescence 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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
Clear cell carcinoma of kidney Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thymoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (13)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 25520248
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 22926736
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37086071 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 30182378
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 25520248
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer BEFREE 22926736
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 22926736
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 30182378
★★★★★
★☆☆☆☆
Found in Text Mining only
ovarian neoplasm Ovarian neoplasm BEFREE 22926736
★★★★★
★☆☆☆☆
Found in Text Mining only
Papillary thyroid carcinoma Papillary thyroid carcinoma BEFREE 21642358
★★★★★
★☆☆☆☆
Found in Text Mining only