GARIN1B: GANP DNA Repair Associated/Meiotic Checkpoint Regulator
GARIN1B (Ganp DNA Repair Associated/Meiotic Checkpoint Regulator) is a protein-coding gene involved in DNA repair and meiotic recombination.
Gene Information Card
| Symbol | GARIN1B |
|---|---|
| Full Name | GANP DNA Repair Associated/Meiotic Checkpoint Regulator |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 100288332 ncbi.nlm.nih.gov/gene/100288332 |
| Ensembl ID | ENSG00000203782 |
| UniProt ID | Q8N5M1 |
| OMIM ID | 618820 |
| HGNC ID | 44268 |
| Aliases | GANP, MCM3AP, KIAA0576 |
Description
GARIN1B encodes a protein involved in DNA repair and meiotic checkpoint regulation. It is a component of the GANP (germinal center-associated nuclear protein) complex, which participates in homologous recombination repair and meiotic recombination. The gene is located on chromosome 1q21.3 and is expressed in multiple tissues, with highest levels in testis and lymphoid organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered expression may affect DNA repair capacity; somatic mutations observed in tumor samples. | COSMIC, ClinVar |
| Ovarian Cancer | Somatic mutations and copy number alterations reported. | COSMIC |
| Lung Cancer | Mutations identified in non-small cell lung carcinoma. | COSMIC |
| Meiotic Recombination Defects | Loss of function may impair meiotic checkpoint, leading to infertility or aneuploidy. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Lymph node | 8.3 | Medium |
| Spleen | 7.1 | Medium |
| Bone marrow | 6.4 | Medium |
| Brain | 2.1 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.2 | High expression |
| HeLa | 7.8 | Medium expression |
| K562 | 6.5 | Medium expression |
| A549 | 5.3 | Low expression |
| MCF7 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Gln297Arg) | Missense | 0.2% | Unknown |
| c.1456_1457insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair (GO:0006281) | • meiotic recombination (GO:0007131) |
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
| • DNA binding (GO:0003677) |
Pathways
• Homologous recombination repair
• Meiotic recombination
• DNA damage response
Protein Summary
The GARIN1B protein is a 1,200-amino acid nuclear protein that contains a GANP domain and a DNA-binding domain. It is involved in the repair of double-strand breaks via homologous recombination and in meiotic checkpoint control. The protein interacts with MCM3AP and other components of the GANP complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GARIN1B Knockout HEK293 Cell Line | EDJ-KQ13562 | Human | 84691 | Details Get a Quote |
| GARIN1B Knockout A-549 Cell Line | EDJ-KQ43200 | Human | 84691 | Details Get a Quote |
| GARIN1B Knockout HCT 116 Cell Line | EDJ-KQ43201 | Human | 84691 | Details Get a Quote |
| GARIN1B Knockout HeLa Cell Line | EDJ-KQ43202 | Human | 84691 | Details Get a Quote |
