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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RMI1
RecQ mediated genome instability 1
Chromosome 9 · 9q21.32
NCBI Gene: 80010Ensembl: ENSG00000178966.18HGNC: HGNC:25764UniProt: Q9H9A7
80PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Homologous RecombinationHub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmprotein bindingdouble-strand break repair via homologous recombinationresolution of DNA recombination intermediatescancerAbnormality of the skeletal systemcolorectal cancertype 2 diabetes mellitus
✦AI Summary

RMI1 (RecQ-mediated genome instability 1) is an essential component of the BTR complex (BLM-TOP3A-RMI1/2), which plays a critical role in DNA recombination intermediate processing and genome stability. Mechanistically, RMI1 promotes TOP3A binding to double Holliday junctions and stimulates their dissolution, preventing aberrant DNA crossover formation 1. The RMI1-containing complex also regulates mitotic telomere deprotection through coordinate action with the chromosome 9 complex, enabling controlled telomere DNA damage responses 2. RMI1 is required for BLM and TOP3A stability and participates in DNA replication fork resolution at telomeres 34. Disease relevance includes genome instability disorders and cancer. RMI1 knockdown enhances radiosensitivity and apoptosis following ionizing radiation exposure, with altered circRNA expression patterns affecting mismatch repair and apoptotic pathways 5. Additionally, RMI1 deficiency confers obesity resistance through altered adipocyte hyperplasia regulation, suggesting roles in metabolic homeostasis beyond DNA repair 6. RMI1 was identified as a diagnostic hub gene in atherosclerosis with rheumatoid arthritis comorbidity 7. Clinically, RMI1 dysfunction associates with increased chromosome 9 and genomic instability, with potential implications for cancer treatment strategies targeting DNA repair pathways 3.

Sources cited
1
RMI1 works with BLM and TOP3 in homologous recombination and meiotic recombination completion
PMID: 25699706
2
BTR complex (including RMI1) regulates mitotic telomere deprotection and ATM-dependent telomere DNA damage response
PMID: 40097392
3
RMI1 component of BTR complex dissolves double Holliday junctions and DNA replication intermediates
PMID: 38266639
4
FANCM-BLM-TOP3A-RMI complex suppresses alternative lengthening of telomeres and manages replication stress
PMID: 31138797
5
RMI1 knockdown increases radiosensitivity and alters circRNA expression affecting DNA repair pathways
PMID: 33202158
6
RMI1 deficiency in mice confers obesity resistance through regulation of adipocyte hyperplasia
PMID: 21199368
7
RMI1 identified as diagnostic hub gene in atherosclerosis with rheumatoid arthritis
PMID: 36969166
8
BLM regulates TRR (TOP3A-RMI1-RMI2) complex gate opening for DNA catenation
PMID: 35102151
Disease Associationsⓘ20
cancerOpen Targets
0.53Moderate
Abnormality of the skeletal systemOpen Targets
0.29Weak
colorectal cancerOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.23Weak
migraine disorderOpen Targets
0.21Weak
smoking initiationOpen Targets
0.18Weak
risk-taking behaviourOpen Targets
0.17Weak
cervical carcinomaOpen Targets
0.16Weak
smoking behaviorOpen Targets
0.16Weak
generalised epilepsyOpen Targets
0.12Weak
systemic lupus erythematosusOpen Targets
0.05Suggestive
MODYOpen Targets
0.05Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
substance abuseOpen Targets
0.05Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
gliomaOpen Targets
0.04Suggestive
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
0.04Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.04Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.04Suggestive
permanent neonatal diabetes mellitus 1Open Targets
0.04Suggestive
Pathogenic Variants1
NM_001358291.2(RMI1):c.1284_1288del (p.Lys428fs)Likely pathogenic
Colorectal cancer
☆☆☆☆2021→ Residue 428
View on ClinVar ↗
Related Genes
RAD51DProtein interaction100%RECQLProtein interaction100%XRCC3Protein interaction100%TOP3BProtein interaction100%RECQL4Protein interaction100%RAD50Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
48%
Bone Marrow
41%
Liver
38%
Lung
25%
Ovary
23%
Gene Interaction Network
Click a node to explore
RMI1RAD51DRECQLXRCC3TOP3BRECQL4RAD50
PROTEIN STRUCTURE
Preparing viewer…
PDB3MXN · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.58–1.00]
RankingsWhere RMI1 stands among ~20K protein-coding genes
  • #5,960of 20,598
    Most Researched80
  • #4,966of 5,498
    Most Pathogenic Variants1
  • #9,611of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedRMI1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of immune-related genes in diagnosing atherosclerosis with rheumatoid arthritis through bioinformatics analysis and machine learning.
PMID: 36969166
Front Immunol · 2023
1.00
2
TOPping off meiosis.
PMID: 25699706
Mol Cell · 2015
0.90
3
BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution.
PMID: 38266639
Mol Cell · 2024
0.80
4
A CPC-shelterin-BTR axis regulates mitotic telomere deprotection.
PMID: 40097392
Nat Commun · 2025
0.70
5
Adipocyte hyperplasia and RMI1 in the treatment of obesity.
PMID: 21199368
FEBS J · 2011
0.60