FIRRM (FIGNL1 Interacting Regulator of Recombination and Mitosis)
A key regulator of homologous recombination and mitotic progression, implicated in Fanconi anemia and cancer susceptibility.
Gene Information Card
| Symbol | FIRRM |
|---|---|
| Full Name | FIGNL1 interacting regulator of recombination and mitosis |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 55787 ncbi.nlm.nih.gov/gene/55787 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9H6Z4 |
| OMIM ID | 615599 |
| HGNC ID | 26119 |
| Aliases | C1orf112, FLJ10916, MGC13170 |
Description
FIRRM (FIGNL1 interacting regulator of recombination and mitosis) encodes a protein that interacts with FIGNL1 to regulate homologous recombination and mitotic progression. It is essential for genome stability and is associated with Fanconi anemia and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia | Loss-of-function mutations impair homologous recombination repair, leading to genomic instability and bone marrow failure. | OMIM #615599; ClinVar |
| Breast cancer | Altered expression and mutations may disrupt DNA repair, increasing susceptibility. | COSMIC; NCBI Gene |
| Ovarian cancer | Somatic mutations and copy number alterations observed in tumor samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | Medium |
| Bone marrow | 18.7 | Medium |
| Lymph node | 15.2 | Medium |
| Brain | 5.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 20.5 | Embryonic kidney, high expression |
| HeLa | 18.2 | Cervical cancer, moderate expression |
| MCF7 | 12.3 | Breast cancer, moderate expression |
| K562 | 8.9 | Leukemia, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, truncation |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function, frameshift |
| c.890A>G (p.Tyr297Cys) | Missense | 0.02% | Unknown significance, may affect protein interaction |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing homologous recombination and mitotic regulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005634 (GO:0005634) | • GO:0005654 (GO:0005654) |
| • GO:0000724 (GO:0000724) | • GO:0007067 (GO:0007067) |
| • GO:0043231 (GO:0043231) |
Pathways
• Homologous recombination repair
• Fanconi anemia pathway
• Cell cycle
• mitosis
Protein Summary
The FIRRM protein (UniProt Q9H6Z4) is a 678-amino acid nuclear protein that interacts with FIGNL1 to promote homologous recombination and proper mitotic progression. It contains a conserved domain of unknown function (DUF) and is critical for maintaining genomic stability. Loss of FIRRM leads to increased DNA damage sensitivity and chromosomal aberrations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FIRRM Knockout HEK293 Cell Line | EDJ-KQ13488 | Human | 55732 | Details Get a Quote |
| FIRRM Knockout A-549 Cell Line | EDJ-KQ43089 | Human | 55732 | Details Get a Quote |
| FIRRM Knockout HeLa Cell Line | EDJ-KQ43090 | Human | 55732 | Details Get a Quote |
| FIRRM Knockout HCT 116 Cell Line | EDJ-KQ41838 | Human | 55732 | Details Get a Quote |
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