HUS1B
HUS1 checkpoint clamp component B
Gene Information Card
| Symbol | HUS1B |
|---|---|
| Full Name | HUS1 checkpoint clamp component B |
| Gene Type | protein-coding |
| Chromosomal Location | 6p25.3 |
| NCBI Gene ID | 135458 ncbi.nlm.nih.gov/gene/135458 |
| Ensembl ID | ENSG00000188611 |
| UniProt ID | Q8NHY3 |
| OMIM ID | 609724 |
| HGNC ID | 24862 |
| Aliases | HUS1B, HUS1-like, MGC131895 |
Description
HUS1B (HUS1 checkpoint clamp component B) is a protein-coding gene that encodes a component of the 9-1-1 cell-cycle checkpoint complex. This complex is involved in the DNA damage response, activating CHK1 kinase and promoting cell cycle arrest in response to DNA damage. HUS1B is a paralog of HUS1 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Defective DNA damage checkpoint signaling may contribute to genomic instability and tumorigenesis. | COSMIC; ClinVar |
| Fanconi anemia-like phenotype | Potential role in DNA repair pathway disruption; limited direct evidence. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Thyroid | 4.1 | Low |
| Prostate | 3.5 | Low |
| Adrenal gland | 2.9 | Low |
| Lung | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.100C>T | Synonymous | <0.01% | No predicted effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA damage checkpoint | • cell cycle checkpoint |
| • protein binding | • nucleus |
| • cytoplasm |
Pathways
• DNA damage response (9-1-1 complex pathway)
• Cell cycle checkpoint signaling
Protein Summary
HUS1B is a 280-amino acid protein that forms part of the 9-1-1 complex (RAD9-HUS1-RAD1). It shares structural homology with HUS1 and is involved in the activation of the CHK1 kinase, leading to cell cycle arrest in response to DNA damage. The protein is localized to the nucleus and cytoplasm.
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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