RRM1 (ribonucleotide reductase catalytic subunit M1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6240
Gene name Ribonucleotide reductase catalytic subunit M1
Gene symbol RRM1
Synonyms (NCBI Gene)
PEOB6R1RIR1RR1
Chromosome 11
Chromosome location 11p15.4
Summary This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of
miRNA miRNA information provided by mirtarbase database.
94
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (94)
miRTarBase ID miRNA Experiments Reference
MIRT004159 hsa-miR-192-5p Microarray 16822819
MIRT023637 hsa-miR-1-3p Proteomics 18668040
MIRT049472 hsa-miR-92a-3p CLASH 23622248
MIRT046549 hsa-let-7i-5p CLASH 23622248
MIRT037088 hsa-miR-877-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
Transcription factor Regulation Reference
E2F1 Activation 14618416
TFDP1 Activation 14618416
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000731 Process DNA synthesis involved in DNA repair NAS 10716435
GO:0003824 Function Catalytic activity IEA
GO:0004748 Function Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IBA
GO:0004748 Function Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
180410 10451 ENSG00000167325
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23921
Protein name Ribonucleoside-diphosphate reductase large subunit (EC 1.17.4.1) (Ribonucleoside-diphosphate reductase subunit M1) (Ribonucleotide reductase large subunit)
Protein function Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides.
PDB 2WGH , 3HNC , 3HND , 3HNE , 3HNF , 4X3V , 5D1Y , 5TUS , 6AUI , 6L3R , 6L7L , 6LKM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03477 ATP-cone 1 → 89 ATP cone domain Domain
PF00317 Ribonuc_red_lgN 141 → 213 Ribonucleotide reductase, all-alpha domain Domain
PF02867 Ribonuc_red_lgC 216 → 738 Ribonucleotide reductase, barrel domain Family
Sequence
Sequence length 792
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Purine metabolism
Pyrimidine metabolism
Glutathione metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism 		  Interconversion of nucleotide di- and triphosphates
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 Likely pathogenic; Pathogenic rs2094584404, rs141634151 RCV003447337
RCV003447444
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RRM1-related disorder Likely pathogenic rs2094584404 RCV003153041
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (10)
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 Evidence Score
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (120)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acrania Acrania CTD_human_DG 10716750
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 29631596
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18414411
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 23470290, 30458017
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 29523831
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 22547773, 25497672
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma CTD_human_DG 22547773
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 22547773 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 29869738
★★★★★
★☆☆☆☆
Found in Text Mining only