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

Summary

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

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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

RRMI (e-PCR)
- UniSTS:30212

RH35854 (e-PCR)
- UniSTS:26653

GDB:197861 (e-PCR)
- UniSTS:155975

STS-X59617 (e-PCR)
- UniSTS:4692

MARC_11583-11584:1002656974:1 (e-PCR)
- UniSTS:267232

RH80019 (e-PCR)
- UniSTS:91114

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

EC 1.17.4.1

NP_001304993.1

EC 1.17.4.1

NP_001304994.1

EC 1.17.4.1

NP_001317122.1

EC 1.17.4.1

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

NG_027992.2 RefSeqGene

Range

5106..49239

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_324

mRNA and Protein(s)

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
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
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
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