RMI1

Chr 9q21.32

RecQ mediated genome instability 1

Aliases:: FLJ12888, BLAP75
MANE:: ENST00000445877.6

OMIM: 610404 ↗NCBI: 80010 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RMI1 · Q9H9A7

v62025-08-01

Predicted Aligned Error matrix for RMI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.5/ 100

Low

625 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)12%
Low(50–70)6%
Very low(< 50)39%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cancer
0.53
colorectal cancer
0.26
Abnormality of the skeletal system
0.26
type 2 diabetes mellitus
0.16
migraine disorder
0.16
cervical carcinoma
0.15
smoking initiation
0.14
risk-taking behaviour
0.13
smoking behavior
0.12
idiopathic generalized epilepsy
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

RecQ-mediated genome instability protein 1

Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability