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RRM1 ribonucleotide reductase catalytic subunit M1 [ Homo sapiens (human) ]

Gene ID: 6240, updated on 27-Nov-2024

Summary

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Official Symbol
RRM1provided by HGNC
Official Full Name
ribonucleotide reductase catalytic subunit M1provided by HGNC
Primary source
HGNC:HGNC:10451
See related
Ensembl:ENSG00000167325 MIM:180410; AllianceGenome:HGNC:10451
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
R1; RR1; RIR1; PEOB6
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 the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in skin (RPKM 18.5), lymph node (RPKM 18.3) and 25 other tissues See more
Orthologs
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Genomic context

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See RRM1 in Genome Data Viewer
Location:
11p15.4
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (4094685..4138932)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (4159950..4204024)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (4115915..4160162)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene stromal interaction molecule 1 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 21 Neighboring gene ribosomal protein S29 pseudogene 20 Neighboring gene Sharpr-MPRA regulatory region 1570 Neighboring gene Sharpr-MPRA regulatory region 9588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4321 Neighboring gene olfactory receptor family 55 subfamily B member 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:4199970-4200497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:4200498-4201024 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3094 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:4210694-4210919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:4214784-4215284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:4215285-4215785 Neighboring gene long intergenic non-protein coding RNA 2749

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. RRM1 predicts clinical outcome of high-and intermediate-risk non-muscle-invasive bladder cancer patients treated with intravesical gemcitabine monotherapy. Yang Z, et al. BMC Urol, 2019 Jul 24. PMID 31340801, Free PMC Article
  2. Association of RRM1 -37A>C polymorphism with clinical outcome in colorectal cancer patients treated with gemcitabine-based chemotherapy. Rodriguez J, et al. Eur J Cancer, 2011 Apr. PMID 21220199
  3. RRM1 gene expression in peripheral blood is predictive of shorter survival in Chinese patients with advanced non-small-cell lung cancer treated by gemcitabine and platinum. Wang LR, et al. J Zhejiang Univ Sci B, 2011 Mar. PMID 21370501, Free PMC Article
  4. Cytoplasmic RRM1 activation as an acute response to gemcitabine treatment is involved in drug resistance of pancreatic cancer cells. Kato T, et al. PLoS One, 2021. PMID 34111175, Free PMC Article
  5. The influence of gemcitabine pathway polymorphisms on treatment outcome in patients with malignant mesothelioma. Erčulj N, et al. Pharmacogenet Genomics, 2012 Jan. PMID 22134350

See all (223) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Prognostic value of RRM1 and its effect on chemoresistance in pancreatic cancer.
    Title: Prognostic value of RRM1 and its effect on chemoresistance in pancreatic cancer.
  2. RRM1 is mediated by histone acetylation through gemcitabine resistance and contributes to invasiveness and ECM remodeling in pancreatic cancer.
    Title: RRM1 is mediated by histone acetylation through gemcitabine resistance and contributes to invasiveness and ECM remodeling in pancreatic cancer.
  3. Targeting Ribonucleotide Reductase Induces Synthetic Lethality in PP2A-Deficient Uterine Serous Carcinoma.
    Title: Targeting Ribonucleotide Reductase Induces Synthetic Lethality in PP2A-Deficient Uterine Serous Carcinoma.
  4. Cytoplasmic RRM1 activation as an acute response to gemcitabine treatment is involved in drug resistance of pancreatic cancer cells.
    Title: Cytoplasmic RRM1 activation as an acute response to gemcitabine treatment is involved in drug resistance of pancreatic cancer cells.
  5. Double-staining Immunohistochemistry Reveals in Malignant Pleural Mesothelioma the Coexpression of ERCC1 and RRM1 as a Frequent Biological Event Related to Poorer Survival.
    Title: Double-staining Immunohistochemistry Reveals in Malignant Pleural Mesothelioma the Coexpression of ERCC1 and RRM1 as a Frequent Biological Event Related to Poorer Survival.
  6. Expression patterns and prognostic significances of RRM1 and ERCC1 in pancreatic carcinoma and cholangiocarcinoma.
    Title: Expression patterns and prognostic significances of RRM1 and ERCC1 in pancreatic carcinoma and cholangiocarcinoma.
  7. RRM1 and ERCC1 as biomarkers in patients with locally advanced and metastatic malignant pleural mesothelioma treated with continuous infusion of low-dose gemcitabine plus cisplatin.
    Title: RRM1 and ERCC1 as biomarkers in patients with locally advanced and metastatic malignant pleural mesothelioma treated with continuous infusion of low-dose gemcitabine plus cisplatin.
  8. Knockdown of RRM1 with Adenoviral shRNA Vectors to Inhibit Tumor Cell Viability and Increase Chemotherapeutic Sensitivity to Gemcitabine in Bladder Cancer Cells.
    Title: Knockdown of RRM1 with Adenoviral shRNA Vectors to Inhibit Tumor Cell Viability and Increase Chemotherapeutic Sensitivity to Gemcitabine in Bladder Cancer Cells.
  9. LINC02535 co-functions with PCBP2 to regulate DNA damage repair in cervical cancer by stabilizing RRM1 mRNA.
    Title: LINC02535 co-functions with PCBP2 to regulate DNA damage repair in cervical cancer by stabilizing RRM1 mRNA.
  10. Cell-cycle-dependent phosphorylation of RRM1 ensures efficient DNA replication and regulates cancer vulnerability to ATR inhibition.
    Title: Cell-cycle-dependent phosphorylation of RRM1 ensures efficient DNA replication and regulates cancer vulnerability to ATR inhibition.
Submit: New GeneRIF Correction See all GeneRIFs (113)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
MedGen: C5882731 OMIM: 620647 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Expression of HIV-1 Tat upregulates the abundance of ribonucleotide reductase M1 (RRM1) in the nucleoli of Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables disordered domain specific binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ribonucleoside-diphosphate reductase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in 2'-deoxyribonucleotide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA synthesis involved in DNA repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cell proliferation in forebrain IEA
Inferred from Electronic Annotation
more info
  
involved_in deoxyribonucleotide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in deoxyribonucleotide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in male gonad development IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrial DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of G0 to G1 transition IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of G2/M transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein heterotetramerization IEA
Inferred from Electronic Annotation
more info
  
involved_in pyrimidine nucleobase metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in response to ionizing radiation IEA
Inferred from Electronic Annotation
more info
  
involved_in retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
  
involved_in ribonucleoside diphosphate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear envelope IEA
Inferred from Electronic Annotation
more info
  
part_of ribonucleoside-diphosphate reductase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ribonucleoside-diphosphate reductase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of ribonucleoside-diphosphate reductase complex ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
ribonucleoside-diphosphate reductase large subunit
Names
ribonucleoside-diphosphate reductase subunit M1
ribonucleotide reductase M1 polypeptide
ribonucleotide reductase, R1 subunit
NP_001024.1
NP_001304993.1
NP_001304994.1
NP_001317122.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027992.2 RefSeqGene

    Range
    5106..49239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_324

mRNA and Protein(s)

  1. NM_001033.5 → NP_001024.1  ribonucleoside-diphosphate reductase large subunit isoform 1

    See identical proteins and their annotated locations for NP_001024.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC015689, BC006498, BP229960, BQ775841, CB853003, X59617
    Consensus CDS
    CCDS7750.1
    UniProtKB/Swiss-Prot
    P23921, Q9UNN2
    UniProtKB/TrEMBL
    Q53GZ5
    Related
    ENSP00000300738.5, ENST00000300738.10
    Conserved Domains (1) summary
    PLN02437
    Location:1 → 792
    PLN02437; ribonucleoside--diphosphate reductase large subunit

  2. NM_001318064.1 → NP_001304993.1  ribonucleoside-diphosphate reductase large subunit isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC015689, AK303394, BP229960, BQ775841, CB853003, X59617
    UniProtKB/TrEMBL
    B4E0I8
    Conserved Domains (2) summary
    cd01679
    Location:70 → 644
    RNR_I; Class I ribonucleotide reductase
    pfam02867
    Location:119 → 641
    Ribonuc_red_lgC; Ribonucleotide reductase, barrel domain

  3. NM_001318065.1 → NP_001304994.1  ribonucleoside-diphosphate reductase large subunit isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC015689, AK301922, AK311593, BC006498, BQ775841, CB853003
    UniProtKB/TrEMBL
    B4DXD1
    Conserved Domains (1) summary
    cl38938
    Location:1 → 454
    RNR_PFL; Ribonucleotide reductase and Pyruvate formate lyase

  4. NM_001330193.1 → NP_001317122.1  ribonucleoside-diphosphate reductase large subunit isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC015689, AK311593, BF681281, BM464333
    Consensus CDS
    CCDS81547.1
    UniProtKB/TrEMBL
    B4DXB0, E9PL69
    Related
    ENSP00000431464.1, ENST00000534285.5
    Conserved Domains (2) summary
    cd01679
    Location:3 → 519
    RNR_I; Class I ribonucleotide reductase
    pfam02867
    Location:1 → 516
    Ribonuc_red_lgC; Ribonucleotide reductase, barrel domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    4094685..4138932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    4159950..4204024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P23921.1 GenPept UniProtKB/Swiss-Prot:P23921

Gene LinkOut

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