HROB (Homologous Recombination Factor with OB-fold)
Key regulator of homologous recombination repair and genome stability
Gene Information Card
| Symbol | HROB |
|---|---|
| Full Name | Homologous Recombination Factor with OB-fold |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 79083 ncbi.nlm.nih.gov/gene/79083 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q6P1X6 |
| OMIM ID | 618657 |
| HGNC ID | 26009 |
| Aliases | C17orf53, MGC12972 |
Description
HROB encodes a protein with an OB-fold domain that functions as a key factor in homologous recombination (HR) repair of DNA double-strand breaks. It interacts with the MCM8-MCM9 complex to promote HR and is essential for genome stability. HROB deficiency leads to HR defects and cellular sensitivity to DNA crosslinking agents.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia-like disorder | Defective HR repair due to HROB loss impairs interstrand crosslink repair | PMID: 32032547 |
| Breast cancer | HROB mutations may contribute to HR deficiency and tumorigenesis | PMID: 32032547 |
| Ovarian cancer | Altered HROB expression linked to HR repair defects | PMID: 32032547 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.1 | Medium |
| Lymph node | 6.5 | Low |
| Breast | 4.2 | Low |
| Ovary | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.5 | Moderate expression |
| MCF7 | 7.1 | Low expression |
| U2OS | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | Rare | Impaired MCM8-MCM9 interaction, HR defect |
| c.487_488del (p.Leu163fs) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
HROB loss-of-function mutations impair homologous recombination repair, leading to genomic instability and sensitivity to DNA crosslinking agents.
Gain of Function (GOF)
No gain-of-function mutations reported for HROB.
Dominant Negative (DN)
No dominant-negative mutations reported for HROB.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000724 (GO:0000724) | • GO:0006310 (GO:0006310) |
| • GO:0005634 (GO:0005634) | • GO:0043231 (GO:0043231) |
Pathways
• Homologous recombination repair
• Fanconi anemia pathway
• DNA double-strand break repair
Protein Summary
The HROB protein contains an OB-fold domain and localizes to the nucleus. It forms a complex with MCM8 and MCM9, facilitating the recruitment of these helicases to DNA damage sites. HROB is essential for efficient homologous recombination and maintenance of genome integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HROB Knockout HEK293 Cell Line | EDJ-KQ12020 | Human | 78995 | Details Get a Quote |
| HROB Knockout A-549 Cell Line | EDJ-KQ40622 | Human | 78995 | Details Get a Quote |
| HROB Knockout HCT 116 Cell Line | EDJ-KQ40623 | Human | 78995 | Details Get a Quote |
| HROB Knockout HeLa Cell Line | EDJ-KQ40624 | Human | 78995 | Details Get a Quote |
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