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Aliases for RRM1 Gene

Aliases for RRM1 Gene

  • Ribonucleotide Reductase M1 2 3
  • Ribonucleoside-Diphosphate Reductase Subunit M1 3 4
  • Ribonucleotide Reductase M1 Polypeptide 2 3
  • EC 1.17.4.1 4 64
  • RR1 3 4
  • Ribonucleoside-Diphosphate Reductase Large Subunit 3
  • Ribonucleotide Reductase Large Subunit 4
  • Ribonucleotide Reductase, R1 Subunit 3
  • RIR1 3
  • R1 3

External Ids for RRM1 Gene

Summaries for RRM1 Gene

Entrez Gene Summary for RRM1 Gene

  • This gene encodes one of two non-identical subunits that constitute ribonucleoside-diphosphate reductase, an enzyme essential for the production of deoxyribonucleotides prior to DNA synthesis in S phase of dividing cells. It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region. [provided by RefSeq, Jul 2008]

GeneCards Summary for RRM1 Gene

RRM1 (Ribonucleotide Reductase M1) is a Protein Coding gene. Diseases associated with RRM1 include wilms tumor and breast cancer. Among its related pathways are Integrated Pancreatic Cancer Pathway and Cell Cycle / Checkpoint Control. GO annotations related to this gene include ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for RRM1 Gene

Genomics for RRM1 Gene

Genomic Location for RRM1 Gene

Start:
4,094,694 bp from pter
End:
4,138,876 bp from pter
Size:
44,183 bases
Orientation:
Plus strand

Genomic View for RRM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RRM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRM1 Gene

Regulatory Elements 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:
    • The level of the enzyme activity is closely correlated with the growth rate of a cell and appears to vary with the cell cycle
    • 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

    Three dimensional structures from OCA and Proteopedia for RRM1 Gene

neXtProt entry for RRM1 Gene

Proteomics data for RRM1 Gene at MOPED

Post-translational modifications for RRM1 Gene

  • Modification sites at PhosphoSitePlus
  • 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

Other Protein References for RRM1 Gene

Domains for RRM1 Gene

UniProtKB/Swiss-Prot:

RIR1_HUMAN
Domain:
  • Contains 1 ATP-cone domain.:
    • P23921
Family:
  • Belongs to the ribonucleoside diphosphate reductase large chain family.:
    • P23921
genes like me logo Genes that share domains with RRM1: view

No data available for Gene Families for RRM1 Gene

Function for RRM1 Gene

Molecular function for RRM1 Gene

GENATLAS Biochemistry: ribonucleotide diphosphate reductase M1 polypeptide,pyrimidine biosynthetic pathway,putative metastasis suppressor (see TSG11D)
UniProtKB/Swiss-Prot CatalyticActivity: 2-deoxyribonucleoside diphosphate + thioredoxin disulfide + H(2)O = ribonucleoside diphosphate + thioredoxin.
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.
UniProtKB/Swiss-Prot Function: Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides

Enzyme Numbers (IUBMB) for RRM1 Gene

Gene Ontology (GO) - Molecular Function for RRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004748 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor ISS --
GO:0005515 protein binding IPI 22632967
GO:0005524 ATP binding IEA --
GO:0017076 purine nucleotide binding --
genes like me logo Genes that share ontologies with RRM1: view
genes like me logo Genes that share phenotypes with RRM1: view

miRNA for RRM1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for RRM1 Gene

Localization for RRM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRM1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RRM1 Gene COMPARTMENTS Subcellular localization image for RRM1 gene
Compartment Confidence
cytosol 4
nucleus 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for RRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with RRM1: view

Pathways for RRM1 Gene

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

Pathways by source for RRM1 Gene

UniProtKB/Swiss-Prot P23921-RIR1_HUMAN

  • Pathway: Genetic information processing; DNA replication

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:0008584 male gonad development IEA --
GO:0009263 deoxyribonucleotide biosynthetic process ISS --
genes like me logo Genes that share ontologies with RRM1: view

Compounds for RRM1 Gene

(9) HMDB Compounds for RRM1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
CDP
  • CDP
63-38-7
dADP
  • 2'-deoxyadenosine-5'-diphosphate
2793-06-8
dCDP
  • 2'-Deoxycytidine 5'-diphosphate
800-73-7

(5) Drugbank Compounds for RRM1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cladribine
  • 2-CdA
4291-63-8 target inhibitor
Clofarabine
123318-82-1 target inhibitor
Fludarabine
  • FAMP
75607-67-9 target inhibitor
Gemcitabine
  • dFdC
95058-81-4 target inhibitor
Hydroxyurea
  • Carbamohydroxamic Acid
127-07-1 target inhibitor

(17) Novoseek inferred chemical compound relationships for RRM1 Gene

Compound -log(P) Hits PubMed IDs
gemcitabine 85.8 95
deoxycytidine 74.6 8
deoxyribonucleotide 74 1
cisplatin 53.9 19
carboplatin 42.3 6

(3) PharmGKB related drug/compound annotations for RRM1 Gene

Drug/compound Annotation
cladribine CA
cytarabine CA
gemcitabine CA
genes like me logo Genes that share compounds with RRM1: view

Transcripts for RRM1 Gene

Unigene Clusters for RRM1 Gene

Ribonucleotide reductase M1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
RRM1

Expression for RRM1 Gene

mRNA expression in normal human tissues for RRM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RRM1 Gene

SOURCE GeneReport for Unigene cluster for RRM1 Gene Hs.445705

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

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 36
  • 99.71 (n)
  • 99.87 (a)
RRM1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RRM1 36
  • 92.79 (n)
  • 96.97 (a)
RRM1 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RRM1 36
  • 92.68 (n)
  • 97.98 (a)
RRM1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rrm1 36
  • 90.11 (n)
  • 97.6 (a)
Rrm1 16
Rrm1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RRM1 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RRM1 37
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rrm1 36
  • 90.53 (n)
  • 97.47 (a)
chicken
(Gallus gallus)
Aves RRM1 36
  • 82.24 (n)
  • 94.05 (a)
RRM1 37
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RRM1 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1365 36
tropical clawed frog
(Silurana tropicalis)
Amphibia rrm1 36
  • 78.2 (n)
  • 90.4 (a)
Str.591 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10214 36
zebrafish
(Danio rerio)
Actinopterygii rrm1 36
  • 76.47 (n)
  • 89.14 (a)
rrm1 37
  • 90 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010198 36
  • 65.82 (n)
  • 77.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta RnrL 36
  • 66.58 (n)
  • 75 (a)
RnrL 37
  • 73 (a)
OneToOne
RnrL 38
  • 74 (a)
worm
(Caenorhabditis elegans)
Secernentea rnr-1 36
  • 67.82 (n)
  • 75.06 (a)
rnr-1 37
  • 74 (a)
OneToOne
rnr-1 38
  • 73 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL057W 36
  • 63.31 (n)
  • 69.76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RNR1 36
  • 64.1 (n)
  • 67.64 (a)
RNR1 39
RNR3 37
  • 59 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07887g 36
  • 65.38 (n)
  • 69.1 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons RNR1 36
  • 64.23 (n)
  • 69.19 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.9033 36
corn
(Zea mays)
Liliopsida Zm.5173 36
rice
(Oryza sativa)
Liliopsida Os.4222 36
Os06g0168600 36
  • 64.23 (n)
  • 69.07 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6274 36
bread mold
(Neurospora crassa)
Ascomycetes NCU03539 36
  • 66.4 (n)
  • 74.11 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc22 36
  • 65.07 (n)
  • 70.8 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2172 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7111 37
  • 71 (a)
OneToOne
Species with no ortholog for RRM1:
  • 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)

Paralogs for RRM1 Gene

Selected SIMAP similar genes for RRM1 Gene using alignment to 8 proteins:

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 from dbSNP and Humsavar for RRM1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs9937 -- 4,138,227(+) AGGAC(A/G)AGACC reference, synonymous-codon
rs54816 -- 4,118,999(-) TTTAC(A/G)TCATA intron-variant
rs173014 -- 4,125,106(+) gacga(A/G)gtttc intron-variant
rs183484 -- 4,119,902(-) ATATC(G/T)AGCTG synonymous-codon, reference
rs183485 -- 4,117,460(-) tattt(C/T)cattg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv896896 CNV Gain 21882294
essv17026 CNV CNV 17122850
nsv428248 CNV Gain+Loss 18775914
nsv832053 CNV Gain 17160897
esv1431944 CNV Insertion 17803354
nsv8777 CNV Gain+Loss 18304495

Relevant External Links for RRM1 Gene

HapMap Linkage Disequilibrium report
RRM1
Human Gene Mutation Database (HGMD)
RRM1

Disorders for RRM1 Gene

(1) University of Copenhagen DISEASES for RRM1 Gene

(11) Novoseek inferred disease relationships for RRM1 Gene

Disease -log(P) Hits PubMed IDs
nsclc 73.5 27
cancer lung 61 26
xeroderma pigmentosum 59.4 3
pancreatic cancer 51.4 6
tumors 36.6 37

Relevant External Links for RRM1

Genetic Association Database (GAD)
RRM1
Human Genome Epidemiology (HuGE) Navigator
RRM1
genes like me logo Genes that share disorders with RRM1: view

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

Publications for RRM1 Gene

  1. Human R1 subunit of ribonucleotide reductase (RRM1): 5' flanking region of the gene. (PMID: 8188248) Parker N.J. … Fox R.M. (Genomics 1994) 3 4 23
  2. A 1.4-Mb high-resolution physical map and contig of chromosome segment 11p15.5 and genes in the LOH11A metastasis suppressor region. (PMID: 9933563) Bepler G. … Pitterle D.M. (Genomics 1999) 3 4 23
  3. Human gene for the large subunit of ribonucleotide reductase (RRM1): functional analysis of the promoter. (PMID: 7557993) Parker N.J. … Fox R.M. (Genomics 1995) 2 3 23
  4. Single nucleotide polymorphisms and outcome in docetaxel-cisplatin-treated advanced non-small-cell lung cancer. (PMID: 15277258) Isla D. … Lianes P. (Ann. Oncol. 2004) 3 23 49
  5. An association between RRM1 haplotype and gemcitabine-induced neutropenia in breast cancer patients. (PMID: 17602053) Rha S.Y. … Chung H.C. (Oncologist 2007) 3 23 49

Products for RRM1 Gene

Sources for RRM1 Gene

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