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. [prov... See more...

Aliases for RRM1 Gene

Aliases for RRM1 Gene

  • Ribonucleotide Reductase Catalytic Subunit M1 2 3 5
  • Ribonucleoside-Diphosphate Reductase Large Subunit 3 4
  • Ribonucleoside-Diphosphate Reductase Subunit M1 3 4
  • Ribonucleotide Reductase M1 Polypeptide 2 3
  • EC 1.17.4.1 4 51
  • RR1 3 4
  • Ribonucleotide Reductase Large Subunit 4
  • Ribonucleotide Reductase, R1 Subunit 3
  • RIR1 3
  • RRM1 5
  • R1 3

External Ids for RRM1 Gene

Previous GeneCards Identifiers for RRM1 Gene

  • GC11P004668
  • GC11P004381
  • GC11P004075
  • GC11P004080
  • GC11P004072
  • GC11P003849

Summaries for RRM1 Gene

Entrez Gene Summary for RRM1 Gene

  • 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]

CIViC Summary for RRM1 Gene

GeneCards Summary for RRM1 Gene

RRM1 (Ribonucleotide Reductase Catalytic Subunit M1) is a Protein Coding gene. Diseases associated with RRM1 include Lung Cancer and Autosomal Dominant Progressive External Ophthalmoplegia. Among its related pathways are E2F transcription factor network and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include purine nucleotide binding and ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor.

UniProtKB/Swiss-Prot Summary for RRM1 Gene

  • Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides.

Gene Wiki entry for RRM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RRM1 Gene

Genomics for RRM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RRM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RRM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RRM1

Top Transcription factor binding sites by QIAGEN in the RRM1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HOXA5
  • Lmo2
  • p53

Genomic Locations for RRM1 Gene

Genomic Locations for RRM1 Gene
chr11:4,094,685-4,138,932
(GRCh38/hg38)
Size:
44,248 bases
Orientation:
Plus strand
chr11:4,115,924-4,160,106
(GRCh37/hg19)
Size:
44,183 bases
Orientation:
Plus strand

Genomic View for RRM1 Gene

Genes around RRM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RRM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RRM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRM1 Gene

Proteins for RRM1 Gene

  • Protein details for RRM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23921-RIR1_HUMAN
    Recommended name:
    Ribonucleoside-diphosphate reductase large subunit
    Protein Accession:
    P23921
    Secondary Accessions:
    • Q9UNN2

    Protein attributes for RRM1 Gene

    Size:
    792 amino acids
    Molecular mass:
    90070 Da
    Quaternary structure:
    • Heterodimer of a large and a small subunit. Heterodimer with small subunit RRM2 or RRM2B. The heterodimer with RRM2 has higher catalytic activity than the heterodimer with RRM2B. Interacts with AHCYL1 which inhibits its activity.
    Miscellaneous:
    • Two distinct regulatory sites have been defined: the specificity site, which controls substrate specificity, and the activity site which regulates overall catalytic activity. A substrate-binding catalytic site, located on M1, is formed only in the presence of the second subunit M2.
    • The level of the enzyme activity is closely correlated with the growth rate of a cell and appears to vary with the cell cycle.

    Three dimensional structures from OCA and Proteopedia for RRM1 Gene

neXtProt entry for RRM1 Gene

Selected DME Specific Peptides for RRM1 Gene

P23921:
  • SNGLVPMLRV
  • GIYDTLKQCA
  • ETGTPYM
  • GPYETYEGSPVSKGILQYDMW
  • LNMDFVDP
  • YNYFGFKTLE
  • GLKTGMYY
  • PTLFNAGT
  • DDSIEGIYDTLK
  • IFETIYYGAL
  • SSCFLLSMK
  • IYLEPWH
  • SNLCTEI
  • IRATGSYI
  • KLCYGLN
  • NLNKIID
  • PMPTAST
  • RRVLSGEF
  • GVTTVELD
  • RHRPIGIGV
  • AVCNLAS
  • FLDLKKNTG
  • RGAFIDQSQS
  • KRDGRQE
  • ANPIQFTLNKEKLK
  • LYKDSCN
  • ERPQHMLMRV
  • FDKITSRI
  • QILGNNE
  • VMEDLYNY
  • LYKTVWEI
  • DMWNVTP
  • EPYTSNIY
  • ARYVDQGG
  • MVCSLEN
  • GEEFEKLY
  • LMCPNECPGL
  • ISKSAGGIG
  • LAARIAVSNLHK
  • GVQGLAD
  • IIYDRDF
  • LWIPDLFM
  • YIAGTNG
  • SMHFYGW
  • AEPNYGKLTS
  • QIFETIY
  • TLKQCALISK

Post-translational modifications for RRM1 Gene

  • Ubiquitination at Lys24, Lys70, Lys92, Lys111, Lys128, Lys149, Lys158, Lys180, Lys243, Lys376, Lys414, Lys465, Lys471, Lys479, Lys496, Lys643, Lys656, Lys681, Lys689, Lys693, Lys719, Lys729, Lys733, and Lys754
  • Modification sites at PhosphoSitePlus

Domains & Families for RRM1 Gene

Gene Families for RRM1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RRM1 Gene

InterPro:
Blocks:
  • Ribonucleotide reductase large subunit
  • ATP cone domain
ProtoNet:

Suggested Antigen Peptide Sequences for RRM1 Gene

GenScript: Design optimal peptide antigens:
  • Ribonucleoside-diphosphate reductase (E9PD78_HUMAN)
  • Ribonucleotide reductase large subunit (RIR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23921

UniProtKB/Swiss-Prot:

RIR1_HUMAN :
  • Belongs to the ribonucleoside diphosphate reductase large chain family.
Family:
  • Belongs to the ribonucleoside diphosphate reductase large chain family.
genes like me logo Genes that share domains with RRM1: view

Function for RRM1 Gene

Molecular function for RRM1 Gene

UniProtKB/Swiss-Prot Function:
Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[thioredoxin]-disulfide + a 2'-deoxyribonucleoside 5'-diphosphate + H2O = [thioredoxin]-dithiol + a ribonucleoside 5'-diphosphate; Xref=Rhea:RHEA:23252, Rhea:RHEA-COMP:10698, Rhea:RHEA-COMP:10700, ChEBI:CHEBI:15377, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57930, ChEBI:CHEBI:73316; EC=1.17.4.1; Evidence={ECO:0000269|PubMed:16376858};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Under complex allosteric control mediated by deoxynucleoside triphosphates and ATP binding to separate specificity and activation sites on the M1 subunit. The type of nucleotide bound at the specificity site determines substrate preference. It seems probable that ATP makes the enzyme reduce CDP and UDP, dGTP favors ADP reduction and dTTP favors GDP reduction. Stimulated by ATP and inhibited by dATP binding to the activity site, the dATP inhibition is mediated by AHCYL1 which stabilizes dATP in the site.
GENATLAS Biochemistry:
ribonucleotide diphosphate reductase M1 polypeptide,pyrimidine biosynthetic pathway,putative metastasis suppressor (see TSG11D)

Enzyme Numbers (IUBMB) for RRM1 Gene

Phenotypes From GWAS Catalog for RRM1 Gene

Gene Ontology (GO) - Molecular Function for RRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004748 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor ISS --
GO:0005515 protein binding IPI 17726094
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with RRM1: view
genes like me logo Genes that share phenotypes with RRM1: view

Animal Models for RRM1 Gene

MGI Knock Outs for RRM1:
  • Rrm1 Rrm1<tm1.1(NCOM)Mfgc>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RRM1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RRM1 Gene

Localization for RRM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRM1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RRM1 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0005971 ribonucleoside-diphosphate reductase complex IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RRM1: view

Pathways & Interactions for RRM1 Gene

genes like me logo Genes that share pathways with RRM1: view

UniProtKB/Swiss-Prot P23921-RIR1_HUMAN

  • Pathway: Genetic information processing; DNA replication.

SIGNOR curated interactions for RRM1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IEA --
GO:0006206 pyrimidine nucleobase metabolic process IEA --
GO:0006260 DNA replication IEA --
GO:0008152 metabolic process IEA --
GO:0008584 male gonad development IEA --
genes like me logo Genes that share ontologies with RRM1: view

Drugs & Compounds for RRM1 Gene

(42) Drugs for RRM1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gemcitabine Approved Pharma Target, inhibitor, Biomarker Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2451
Clofarabine Approved, Investigational Pharma Target, inhibitor, binder Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 167
Hydroxyurea Approved Pharma Target, inhibitor 259
Cladribine Approved, Investigational Pharma Target, inhibitor Apoptosis inducer in CLL cells 105
Fludarabine Approved Pharma Target, inhibitor DNA synthsis inhibitor 1533,1533

(10) Additional Compounds for RRM1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
2793-06-8
dcdp
  • 2'-Deoxycytidine 5'-diphosphate
  • 2'-Deoxycytidine diphosphate
  • D-1beta-Ribofuranosylcytosine diphosphate
  • Deoxycytidine diphosphate
  • 2'-Deoxycytidine 5'-diphosphoric acid
800-73-7
dGDP
  • 2'-Deoxyguanosine 5'-diphosphate
  • Deoxyguanosine diphosphate
  • 2'-Deoxyguanosine 5'-diphosphoric acid
  • Deoxyguanosine diphosphoric acid
  • 2'-Deoxy-GDP
3493-09-2
Trypanothione disulfide
  • 2-amino-4-[4-(4-amino-4-CARBOXY-butyrylamino)-5,8,19,22-tetraoxo-1,2-dithia-6,9,13,18,21-pentaaza-cyclotetracos-23-ylcarbamoyl]-butyrIC ACID
  • Oxidized trypanothione
  • Trypanothiondisulfid
  • TSST
  • 2-amino-4-[4-(4-amino-4-CARBOXY-butyrylamino)-5,8,19,22-tetraoxo-1,2-dithia-6,9,13,18,21-pentaaza-cyclotetracos-23-ylcarbamoyl]-butyrate

(5) ApexBio Compounds for RRM1 Gene

Compound Action Cas Number
Clofarabine Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 123318-82-1
Fludarabine Phosphate (Fludara) Inhibits STAT1 activation and DNA synthesis 75607-67-9
Gemcitabine 95058-81-4
Hydroxyurea 127-07-1
Triapine Ribonucleotide reductase inhibitor 236392-56-6
genes like me logo Genes that share compounds with RRM1: view

Drug Products

Transcripts for RRM1 Gene

mRNA/cDNA for RRM1 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RRM1

Alternative Splicing Database (ASD) splice patterns (SP) for RRM1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - - -
SP2: - - -
SP3: -
SP4: -
SP5:

Relevant External Links for RRM1 Gene

GeneLoc Exon Structure for
RRM1

Expression for RRM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RRM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RRM1 Gene

This gene is overexpressed in Lymph node (16.9), Fetal Brain (8.2), and Uterus (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RRM1 Gene



Protein tissue co-expression partners for RRM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RRM1

SOURCE GeneReport for Unigene cluster for RRM1 Gene:

Hs.445705

Evidence on tissue expression from TISSUES for RRM1 Gene

  • Nervous system(4.9)
  • Bone marrow(4.5)
  • Kidney(4.1)
  • Skin(3.7)
  • Lung(3.7)
  • Blood(3.6)
  • Intestine(3.5)
  • Heart(3)
  • Muscle(2.8)
  • Lymph node(2.6)
  • Eye(2.5)
  • Liver(2.5)
  • Pancreas(2.2)
  • Adrenal gland(2.2)
  • Stomach(2.2)
  • Spleen(2.1)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with RRM1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RRM1 Gene

Orthologs for RRM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RRM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RRM1 30 31
  • 99.71 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RRM1 31
  • 96 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RRM1 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RRM1 30 31
  • 92.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RRM1 30 31
  • 92.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rrm1 30
  • 90.53 (n)
Mouse
(Mus musculus)
Mammalia Rrm1 30 17 31
  • 90.11 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RRM1 30 31
  • 82.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RRM1 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rrm1 30
  • 78.2 (n)
Str.591 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.1365 30
Zebrafish
(Danio rerio)
Actinopterygii rrm1 30 31
  • 76.47 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10214 30
Fruit Fly
(Drosophila melanogaster)
Insecta RnrL 30 31 32
  • 66.58 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010198 30
  • 65.82 (n)
Worm
(Caenorhabditis elegans)
Secernentea rnr-1 30 31 32
  • 67.82 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07887g 30
  • 65.38 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RNR1 30
  • 64.1 (n)
RNR3 31 33
  • 59 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL057W 30
  • 63.31 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RNR1 30
  • 64.23 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0168600 30
  • 64.23 (n)
Os.4222 30
Barley
(Hordeum vulgare)
Liliopsida Hv.9033 30
Wheat
(Triticum aestivum)
Liliopsida Ta.6274 30
Corn
(Zea mays)
Liliopsida Zm.5173 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7111 31
  • 71 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU03539 30
  • 66.4 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc22 30
  • 65.07 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2172 30
Species where no ortholog for RRM1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RRM1 Gene

ENSEMBL:
Gene Tree for RRM1 (if available)
TreeFam:
Gene Tree for RRM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RRM1: view image

Paralogs for RRM1 Gene

(5) SIMAP similar genes for RRM1 Gene using alignment to 8 proteins:

  • RIR1_HUMAN
  • E9PD78_HUMAN
  • E9PJ62_HUMAN
  • E9PL69_HUMAN
  • E9PP77_HUMAN
  • E9PRY9_HUMAN
  • F5H861_HUMAN
  • H0YCY7_HUMAN
genes like me logo Genes that share paralogs with RRM1: view

No data available for Paralogs for RRM1 Gene

Variants for RRM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RRM1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
719475 Benign: not provided 4,127,223(+) C/T SYNONYMOUS_VARIANT
731616 Benign: not provided 4,107,509(+) T/C SYNONYMOUS_VARIANT
776564 Likely Benign: not provided 4,127,054(+) G/A MISSENSE_VARIANT
rs2228123 - p.Lys590Gln
rs2229196 - p.Val778Ala

Additional dbSNP identifiers (rs#s) for RRM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RRM1 Gene

Variant ID Type Subtype PubMed ID
esv1431944 CNV insertion 17803354
esv2759797 CNV gain+loss 17122850
esv3578116 CNV gain 25503493
nsv1053189 CNV gain 25217958
nsv1053482 CNV gain 25217958
nsv1070004 CNV deletion 25765185
nsv428248 CNV gain+loss 18775914
nsv832053 CNV gain 17160897
nsv8777 CNV gain+loss 18304495

Variation tolerance for RRM1 Gene

Residual Variation Intolerance Score: 13.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RRM1 Gene

Human Gene Mutation Database (HGMD)
RRM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RRM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RRM1 Gene

Disorders for RRM1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RRM1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lung cancer
  • adenocarcinoma of lung
autosomal dominant progressive external ophthalmoplegia
  • adpeo
xeroderma pigmentosum, variant type
  • xpv
pancreatic cancer
  • pancreatic carcinoma
pancreatic adenocarcinoma
  • adenocarcinoma of the pancreas
- elite association - COSMIC cancer census association via MalaCards
Search RRM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RRM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RRM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RRM1 Gene

Publications for RRM1 Gene

  1. Single nucleotide polymorphisms of gemcitabine metabolic genes and pancreatic cancer survival and drug toxicity. (PMID: 20028759) Okazaki T … Li D (Clinical cancer research : an official journal of the American Association for Cancer Research 2010) 3 23 41
  2. RRM1 single nucleotide polymorphism -37C-->A correlates with progression-free survival in NSCLC patients after gemcitabine-based chemotherapy. (PMID: 20226083) Dong S … Wu YL (Journal of hematology & oncology 2010) 3 23 41
  3. Polymorphisms of the ribonucleotide reductase M1 gene and sensitivity to platin-based chemotherapy in non-small cell lung cancer. (PMID: 19304340) Feng JF … Chen BA (Lung cancer (Amsterdam, Netherlands) 2009) 3 23 41
  4. Efficacy of gemcitabine in patients with non-small cell lung cancer according to promoter polymorphisms of the ribonucleotide reductase M1 gene. (PMID: 18483375) Kim SO … Kim YC (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 23 41
  5. Involvement of ribonucleotide reductase M1 subunit overexpression in gemcitabine resistance of human pancreatic cancer. (PMID: 17131328) Nakahira S … Monden M (International journal of cancer 2007) 3 23 26

Products for RRM1 Gene

Sources for RRM1 Gene