HUS1 Checkpoint Clamp Component
A key component of the DNA damage checkpoint complex involved in cell cycle arrest and DNA repair.
Gene Information Card
| Symbol | HUS1 |
|---|---|
| Full Name | HUS1 checkpoint clamp component |
| Gene Type | Protein coding |
| Chromosomal Location | 7p12.3 |
| NCBI Gene ID | 3364 ncbi.nlm.nih.gov/gene/3364 |
| Ensembl ID | ENSG00000106399 |
| UniProt ID | O60921 |
| OMIM ID | 603760 |
| HGNC ID | 5309 |
| Aliases | hHUS1, HUS1a, HUS1b |
Description
HUS1 encodes a component of the evolutionarily conserved Rad9-Rad1-Hus1 (9-1-1) checkpoint clamp complex. This complex is loaded onto DNA in response to DNA damage or replication stress, where it activates the Chk1 kinase and facilitates DNA repair. HUS1 is essential for maintaining genomic stability and proper cell cycle arrest.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Loss of HUS1 function impairs DNA damage checkpoint, leading to genomic instability and tumorigenesis. | PMID: 12529362, PMID: 15601842 |
| Mismatch repair-deficient colorectal cancer | HUS1 mutations may contribute to microsatellite instability and defective checkpoint signaling. | PMID: 15601842 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Lymph node | 11.5 | Medium |
| Bone marrow | 10.8 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| HEK 293 | 11.0 | Embryonic kidney cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 8.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.335C>T (p.Pro112Leu) | Missense | Rare | Unknown functional effect |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Potential loss of function |
| c.1A>G (p.Met1?) | Start loss | Very rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the 9-1-1 complex assembly or DNA binding impair checkpoint activation and DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type HUS1 function in the complex.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell cycle: G1/S checkpoint (Reactome: R-HSA-69620)
• DNA damage response (ATM/ATR signaling) (Reactome: R-HSA-5693532)
Protein Summary
HUS1 is a 280-amino acid protein that forms a heterotrimeric clamp with RAD9 and RAD1. This clamp is loaded onto DNA by the RAD17-RFC complex at sites of DNA damage. HUS1 is required for ATR-dependent Chk1 activation and subsequent cell cycle arrest. It also interacts with DNA repair proteins such as DNA polymerase beta and FEN1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HUS1B Knockout HEK293 Cell Line | EDJ-KQ9362 | Human | 135458 | Details Get a Quote |
| HUS1B Knockout HeLa Cell Line | EDJ-KQ58350 | Human | 135458 | Details Get a Quote |
| HUS1B Knockout A-549 Cell Line | EDJ-KQ66838 | Human | 135458 | Details Get a Quote |
| HUS1B Knockout HCT 116 Cell Line | EDJ-KQ75242 | Human | 135458 | Details Get a Quote |
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