MRI1

Chr 19

methylthioribose-1-phosphate isomerase 1

Also known as: M1Pi, MRDI, MTNA, Ypr118w

NCBI Gene: 84245ENSG00000037757UniProt: Q9BV20

This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]

110
ClinVar variants
13
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MRI1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 80 VUS of 110 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.10LOEUF
pLI 0.000
Z-score 1.32
OE 0.59 (0.33–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.35Z-score
OE missense 0.93 (0.83–1.05)
203 obs / 217.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.59 (0.33–1.10)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.93 (0.83–1.05)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.95
0≤1.21.6
LoF obs/exp: 7 / 11.9Missense obs/exp: 203 / 217.4Syn Z: 0.37

ClinVar Variant Classifications

110 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
Likely Pathogenic1
VUS80
Likely Benign12
Benign5
12
Pathogenic
1
Likely Pathogenic
80
VUS
12
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
12
0
12
Likely Pathogenic
0
0
1
0
1
VUS
1
75
4
0
80
Likely Benign
1
3
5
3
12
Benign
0
2
2
1
5
Total280244110

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MRI1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Longitudinal MRI in comparison to low-dose CT for follow-up of incidental pulmonary nodules in patients with COPD-a nationwide multicenter trial.
Zhu L et al.·Eur Radiol
2025Cohort
A multicenter study of cervical cancer using quantitative diffusion-weighted imaging.
Wang X et al.·Acta Radiol
2024
Changes in Brain Metastasis During Radiosurgical Planning.
Salkeld AL et al.·Int J Radiat Oncol Biol Phys
2018
Parsing Autism Heterogeneity: Transcriptomic Subgrouping of Imaging-Derived Phenotypes in Autism.
Leyhausen J et al.·Biol Psychiatry Cogn Neurosci Neuroimaging
2026
Multi-parametric spinal cord MRI as potential progression marker in amyotrophic lateral sclerosis.
El Mendili MM et al.·PLoS One
2014
Is there progression of endolymphatic hydrops in Ménière's disease? Longitudinal magnetic resonance study.
Sousa R et al.·Eur Arch Otorhinolaryngol
2023Natural history
Implementation of the mini-CEX in a paediatric emergency department.
Alonso Sánchez I et al.·An Pediatr (Engl Ed)
2024
Needle migration and dosimetric impact in high-dose-rate brachytherapy for prostate cancer evaluated by repeated MRI.
Buus S et al.·Brachytherapy
2018
Predicting the necessity of adding catheters to intracavitary brachytherapy for women undergoing definitive chemoradiation for locally advanced cervical cancer.
Palhares DMF et al.·Brachytherapy
2018
An Association Between Large Optic Cupping and Total and Regional Brain Volume: The Women's Health Initiative.
Wang C et al.·Am J Ophthalmol
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing.
Zhang X et al.·Pharmgenomics Pers Med
2023🔓 Open Access
Early Prediction and Evaluation of Breast Cancer Response to Neoadjuvant Chemotherapy Using Quantitative DCE-MRI.
Tudorica A et al.·Transl Oncol
2016🔓 Open Access
The Microenvironment of Cervical Carcinoma Xenografts: Associations with Lymph Node Metastasis and Its Assessment by DCE-MRI.
Ellingsen C et al.·Transl Oncol
2013
Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain.
Sunker A et al.·Gene
2013
A new bias field correction method combining N3 and FCM for improved segmentation of breast density on MRI.
Lin M et al.·Med Phys
2011
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools