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Gene Gene information from NCBI Gene database.
Entrez ID 84245
Gene name Methylthioribose-1-phosphate isomerase 1
Gene symbol MRI1
Synonyms (NCBI Gene)
M1PiMRDIMTNAYpr118w
Chromosome 19
Chromosome location 19p13.13
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs141094096 G>A Likely-pathogenic Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
643 Show/Hide all (643)
miRTarBase ID miRNA Experiments Reference
MIRT551401 hsa-miR-1295b-5p HITS-CLIP 23313552
MIRT551400 hsa-miR-1912 HITS-CLIP 23313552
MIRT551399 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT551398 hsa-miR-6893-5p HITS-CLIP 23313552
MIRT551397 hsa-miR-940 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17 Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615105 28469 ENSG00000037757
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BV20
Protein name Methylthioribose-1-phosphate isomerase (M1Pi) (MTR-1-P isomerase) (EC 5.3.1.23) (Mediator of RhoA-dependent invasion) (S-methyl-5-thioribose-1-phosphate isomerase) (Translation initiation factor eIF-2B subunit alpha/beta/delta-like protein)
Protein function Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1-P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK ty
PDB 4LDQ , 4LDR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01008 IF-2B 44 → 346 Initiation factor 2 subunit family Family
Sequence
Sequence length 369
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Cysteine and methionine metabolism Methionine salvage pathway
Metabolic pathways  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Familial cancer of breast Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Infantile epilepsy Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Severe cystic degeneration of the brain Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (6)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma BEFREE 24166889
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 25288825 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 29415344
★★★★★
★☆☆☆☆
Found in Text Mining only
Metastatic melanoma Metastatic Melanoma BEFREE 23859498
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 19620624, 29953911
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 29415344
★★★★★
★☆☆☆☆
Found in Text Mining only