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Entry version 165 (18 Sep 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Ribonucleoside-diphosphate reductase subunit M2 B

Gene

RRM2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage.3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Fe cation1 PublicationNote: Binds 2 iron ions per subunit.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: DNA replication

This protein is involved in the pathway DNA replication, which is part of Genetic information processing.
View all proteins of this organism that are known to be involved in the pathway DNA replication and in Genetic information processing.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi100Iron 11
Metal bindingi131Iron 11
Metal bindingi131Iron 21
Metal bindingi134Iron 11
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei138PROSITE-ProRule annotation1
Metal bindingi194Iron 21
Metal bindingi228Iron 21
Metal bindingi231Iron 21

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processDNA damage, DNA repair, DNA replication
LigandIron, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.17.4.1 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-499943 Interconversion of nucleotide di- and triphosphates
R-HSA-5628897 TP53 Regulates Metabolic Genes

SIGNOR Signaling Network Open Resource

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SIGNORi
Q7LG56

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00326

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ribonucleoside-diphosphate reductase subunit M2 B (EC:1.17.4.1)
Alternative name(s):
TP53-inducible ribonucleotide reductase M2 B
p53-inducible ribonucleotide reductase small subunit 2-like protein
Short name:
p53R2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RRM2B
Synonyms:P53R2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17296 RRM2B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604712 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7LG56

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mitochondrial DNA depletion syndrome 8A (MTDPS8A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04621764W → R in MTDPS8A. 1 PublicationCorresponds to variant dbSNP:rs515726182EnsemblClinVar.1
Natural variantiVAR_04621885Missing in MTDPS8A. 1 Publication1
Natural variantiVAR_046219194E → G in MTDPS8A. 1 PublicationCorresponds to variant dbSNP:rs515726191EnsemblClinVar.1
Natural variantiVAR_046220194E → K in MTDPS8A. 1 PublicationCorresponds to variant dbSNP:rs121918308EnsemblClinVar.1
Natural variantiVAR_046221224I → S in MTDPS8A; without tubulopathy. 1 PublicationCorresponds to variant dbSNP:rs515726196EnsemblClinVar.1
Natural variantiVAR_046222236C → F in MTDPS8A. 1 PublicationCorresponds to variant dbSNP:rs121918309EnsemblClinVar.1
Natural variantiVAR_046223282M → I in MTDPS8A; without tubulopathy. 1 PublicationCorresponds to variant dbSNP:rs182614164EnsemblClinVar.1
Natural variantiVAR_046224317L → V in MTDPS8A; without tubulopathy. 1 PublicationCorresponds to variant dbSNP:rs515726198EnsemblClinVar.1
Mitochondrial DNA depletion syndrome 8B (MTDPS8B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065122110R → H in MTDPS8B. 1 PublicationCorresponds to variant dbSNP:rs267607025EnsemblClinVar.1
Natural variantiVAR_065123121R → H in MTDPS8B. 1 PublicationCorresponds to variant dbSNP:rs267607024EnsemblClinVar.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 (PEOA5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Neuropathy, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNET

More...
DisGeNETi
50484

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
RRM2B

MalaCards human disease database

More...
MalaCardsi
RRM2B
MIMi612075 phenotype
613077 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000048392

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
254892 Autosomal dominant progressive external ophthalmoplegia
480 Kearns-Sayre syndrome
255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
298 Mitochondrial neurogastrointestinal encephalomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34866

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3301398

Drug and drug target database

More...
DrugBanki
DB00242 Cladribine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RRM2B

Domain mapping of disease mutations (DMDM)

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DMDMi
74727333

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002281501 – 351Ribonucleoside-diphosphate reductase subunit M2 BAdd BLAST351

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q7LG56

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7LG56

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q7LG56

MaxQB - The MaxQuant DataBase

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MaxQBi
Q7LG56

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q7LG56

PeptideAtlas

More...
PeptideAtlasi
Q7LG56

PRoteomics IDEntifications database

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PRIDEi
Q7LG56

ProteomicsDB human proteome resource

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ProteomicsDBi
5837
68860 [Q7LG56-1]
68861 [Q7LG56-2]
68862 [Q7LG56-3]
68863 [Q7LG56-4]
68864 [Q7LG56-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7LG56

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q7LG56

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed at a high level in skeletal muscle and at a weak level in thymus. Expressed in epithelial dysplasias and squamous cell carcinoma.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

In response to DNA damage in a wild-type p53/TP53-dependent manner.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000048392 Expressed in 202 organ(s), highest expression level in quadriceps femoris

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7LG56 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7LG56 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB006854
HPA028812

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotetramer with large (RRM1) subunit.

Interacts with p53/TP53.

Interacts with RRM1 in response to DNA damage.

5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119071, 19 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-369 Ribonucleoside-diphosphate reductase RR1 complex, RRM2B variant

Database of interacting proteins

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DIPi
DIP-24264N
DIP-48627N

Protein interaction database and analysis system

More...
IntActi
Q7LG56, 16 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000251810

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q7LG56

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1351
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q7LG56

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q7LG56

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1567 Eukaryota
COG0208 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000013305

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q7LG56

KEGG Orthology (KO)

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KOi
K10808

Database of Orthologous Groups

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OrthoDBi
388324at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7LG56

TreeFam database of animal gene trees

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TreeFami
TF300465

Family and domain databases

Conserved Domains Database

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CDDi
cd01049 RNRR2, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.620.20, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009078 Ferritin-like_SF
IPR012348 RNR-like
IPR033909 RNR_small
IPR030475 RNR_small_AS
IPR000358 RNR_small_fam

The PANTHER Classification System

More...
PANTHERi
PTHR23409 PTHR23409, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00268 Ribonuc_red_sm, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47240 SSF47240, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00368 RIBORED_SMALL, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7LG56-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGDPERPEAA GLDQDERSSS DTNESEIKSN EEPLLRKSSR RFVIFPIQYP
60 70 80 90 100
DIWKMYKQAQ ASFWTAEEVD LSKDLPHWNK LKADEKYFIS HILAFFAASD
110 120 130 140 150
GIVNENLVER FSQEVQVPEA RCFYGFQILI ENVHSEMYSL LIDTYIRDPK
160 170 180 190 200
KREFLFNAIE TMPYVKKKAD WALRWIADRK STFGERVVAF AAVEGVFFSG
210 220 230 240 250
SFAAIFWLKK RGLMPGLTFS NELISRDEGL HCDFACLMFQ YLVNKPSEER
260 270 280 290 300
VREIIVDAVK IEQEFLTEAL PVGLIGMNCI LMKQYIEFVA DRLLVELGFS
310 320 330 340 350
KVFQAENPFD FMENISLEGK TNFFEKRVSE YQRFAVMAET TDNVFTLDAD

F
Length:351
Mass (Da):40,737
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6D008687EEF40994
GO
Isoform 2 (identifier: Q7LG56-2) [UniParc]FASTAAdd to basket
Also known as: Long form

The sequence of this isoform differs from the canonical sequence as follows:
     17-68: Missing.

Show »
Length:299
Mass (Da):34,529
Checksum:i4705C44389EB689B
GO
Isoform 3 (identifier: Q7LG56-3) [UniParc]FASTAAdd to basket
Also known as: Short form gamma

The sequence of this isoform differs from the canonical sequence as follows:
     17-228: Missing.

Show »
Length:139
Mass (Da):15,963
Checksum:iE80F65CB030E89B5
GO
Isoform 4 (identifier: Q7LG56-4) [UniParc]FASTAAdd to basket
Also known as: Short form beta

The sequence of this isoform differs from the canonical sequence as follows:
     17-301: Missing.

Show »
Length:66
Mass (Da):7,602
Checksum:iD432147F4FC35499
GO
Isoform 5 (identifier: Q7LG56-5) [UniParc]FASTAAdd to basket
Also known as: Short form

The sequence of this isoform differs from the canonical sequence as follows:
     42-43: FV → SF
     44-351: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:43
Mass (Da):4,852
Checksum:i29373C73112CBE75
GO
Isoform 6 (identifier: Q7LG56-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MGDPERPEAAGLDQDE → MLLLRLPPHR...KDDAWRPQAG

Note: No experimental confirmation available.
Show »
Length:423
Mass (Da):48,787
Checksum:i0D2B8471AE362D44
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YAV1H0YAV1_HUMAN
Ribonucleoside-diphosphate reductas...
RRM2B
408Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DGZ6A0A0C4DGZ6_HUMAN
Ribonucleoside-diphosphate reductas...
RRM2B
297Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RG52E5RG52_HUMAN
Ribonucleoside-diphosphate reductas...
RRM2B
65Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAG65196 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence EAW91842 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti277M → V in BAA92005 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07628033P → S Found in a patient with combined respiratory complex deficiencies, muscle weakness and hearing loss; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs387906892EnsemblClinVar.1
Natural variantiVAR_04621764W → R in MTDPS8A. 1 PublicationCorresponds to variant dbSNP:rs515726182EnsemblClinVar.1
Natural variantiVAR_04621885Missing in MTDPS8A. 1 Publication1
Natural variantiVAR_065122110R → H in MTDPS8B. 1 PublicationCorresponds to variant dbSNP:rs267607025EnsemblClinVar.1
Natural variantiVAR_025699115V → L in colorectal adenocarcinomas cell line; loss of ribonucleotide reductase activity. 1 Publication1
Natural variantiVAR_065123121R → H in MTDPS8B. 1 PublicationCorresponds to variant dbSNP:rs267607024EnsemblClinVar.1
Natural variantiVAR_046219194E → G in MTDPS8A. 1 PublicationCorresponds to variant dbSNP:rs515726191EnsemblClinVar.1
Natural variantiVAR_046220194E → K in MTDPS8A. 1 PublicationCorresponds to variant dbSNP:rs121918308EnsemblClinVar.1
Natural variantiVAR_046221224I → S in MTDPS8A; without tubulopathy. 1 PublicationCorresponds to variant dbSNP:rs515726196EnsemblClinVar.1
Natural variantiVAR_046222236C → F in MTDPS8A. 1 PublicationCorresponds to variant dbSNP:rs121918309EnsemblClinVar.1
Natural variantiVAR_046223282M → I in MTDPS8A; without tubulopathy. 1 PublicationCorresponds to variant dbSNP:rs182614164EnsemblClinVar.1
Natural variantiVAR_046224317L → V in MTDPS8A; without tubulopathy. 1 PublicationCorresponds to variant dbSNP:rs515726198EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0535851 – 16MGDPE…LDQDE → MLLLRLPPHRSHASPLDCKL QDRCRKCYSPRSGQACPPAL AAAWLRRCERRGGRPRGGRR KELTLGLRPARCSAPGPAKD DAWRPQAG in isoform 6. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_01766817 – 301Missing in isoform 4. 1 PublicationAdd BLAST285
Alternative sequenceiVSP_01766917 – 228Missing in isoform 3. 1 PublicationAdd BLAST212
Alternative sequenceiVSP_01767017 – 68Missing in isoform 2. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_01767142 – 43FV → SF in isoform 5. 1 Publication2
Alternative sequenceiVSP_01767244 – 351Missing in isoform 5. 1 PublicationAdd BLAST308

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB036063 mRNA Translation: BAA92434.1
AB036532 Genomic DNA Translation: BAA92493.1
AB163437 mRNA Translation: BAD11774.1
AB163438 mRNA Translation: BAD11775.1
AB166669 mRNA Translation: BAD12265.1
AB166670 mRNA Translation: BAD12266.1
AB166671 mRNA Translation: BAD12267.1
AK001965 mRNA Translation: BAA92005.1
AK304354 mRNA Translation: BAG65196.1 Different initiation.
DC308409 mRNA No translation available.
AL137348 mRNA Translation: CAB70703.2
DQ027001 Genomic DNA Translation: AAY29059.1
AP001328 Genomic DNA No translation available.
AP002907 Genomic DNA No translation available.
CH471060 Genomic DNA Translation: EAW91842.1 Sequence problems.
BC042468 mRNA Translation: AAH42468.1
BC108261 mRNA Translation: AAI08262.1
BC117496 mRNA Translation: AAI17497.1
BC130628 mRNA Translation: AAI30629.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34932.1 [Q7LG56-1]
CCDS55267.1 [Q7LG56-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
T46249

NCBI Reference Sequences

More...
RefSeqi
NP_001165948.1, NM_001172477.1 [Q7LG56-6]
NP_001165949.1, NM_001172478.1 [Q7LG56-2]
NP_056528.2, NM_015713.4 [Q7LG56-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000251810; ENSP00000251810; ENSG00000048392 [Q7LG56-1]
ENST00000395912; ENSP00000379248; ENSG00000048392 [Q7LG56-2]
ENST00000519317; ENSP00000430641; ENSG00000048392 [Q7LG56-3]
ENST00000519962; ENSP00000429140; ENSG00000048392 [Q7LG56-4]
ENST00000522394; ENSP00000429578; ENSG00000048392 [Q7LG56-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
50484

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:50484

UCSC genome browser

More...
UCSCi
uc003ykn.4 human [Q7LG56-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB036063 mRNA Translation: BAA92434.1
AB036532 Genomic DNA Translation: BAA92493.1
AB163437 mRNA Translation: BAD11774.1
AB163438 mRNA Translation: BAD11775.1
AB166669 mRNA Translation: BAD12265.1
AB166670 mRNA Translation: BAD12266.1
AB166671 mRNA Translation: BAD12267.1
AK001965 mRNA Translation: BAA92005.1
AK304354 mRNA Translation: BAG65196.1 Different initiation.
DC308409 mRNA No translation available.
AL137348 mRNA Translation: CAB70703.2
DQ027001 Genomic DNA Translation: AAY29059.1
AP001328 Genomic DNA No translation available.
AP002907 Genomic DNA No translation available.
CH471060 Genomic DNA Translation: EAW91842.1 Sequence problems.
BC042468 mRNA Translation: AAH42468.1
BC108261 mRNA Translation: AAI08262.1
BC117496 mRNA Translation: AAI17497.1
BC130628 mRNA Translation: AAI30629.1
CCDSiCCDS34932.1 [Q7LG56-1]
CCDS55267.1 [Q7LG56-2]
PIRiT46249
RefSeqiNP_001165948.1, NM_001172477.1 [Q7LG56-6]
NP_001165949.1, NM_001172478.1 [Q7LG56-2]
NP_056528.2, NM_015713.4 [Q7LG56-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VUXX-ray2.80A/B20-322[»]
3HF1X-ray2.60A/B1-351[»]
4DJNX-ray2.20A/B13-322[»]
SMRiQ7LG56
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119071, 19 interactors
ComplexPortaliCPX-369 Ribonucleoside-diphosphate reductase RR1 complex, RRM2B variant
DIPiDIP-24264N
DIP-48627N
IntActiQ7LG56, 16 interactors
STRINGi9606.ENSP00000251810

Chemistry databases

BindingDBiQ7LG56
ChEMBLiCHEMBL3301398
DrugBankiDB00242 Cladribine

PTM databases

iPTMnetiQ7LG56
PhosphoSitePlusiQ7LG56

Polymorphism and mutation databases

BioMutaiRRM2B
DMDMi74727333

Proteomic databases

EPDiQ7LG56
jPOSTiQ7LG56
MassIVEiQ7LG56
MaxQBiQ7LG56
PaxDbiQ7LG56
PeptideAtlasiQ7LG56
PRIDEiQ7LG56
ProteomicsDBi5837
68860 [Q7LG56-1]
68861 [Q7LG56-2]
68862 [Q7LG56-3]
68863 [Q7LG56-4]
68864 [Q7LG56-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
50484
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251810; ENSP00000251810; ENSG00000048392 [Q7LG56-1]
ENST00000395912; ENSP00000379248; ENSG00000048392 [Q7LG56-2]
ENST00000519317; ENSP00000430641; ENSG00000048392 [Q7LG56-3]
ENST00000519962; ENSP00000429140; ENSG00000048392 [Q7LG56-4]
ENST00000522394; ENSP00000429578; ENSG00000048392 [Q7LG56-5]
GeneIDi50484
KEGGihsa:50484
UCSCiuc003ykn.4 human [Q7LG56-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
50484
DisGeNETi50484

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RRM2B
GeneReviewsiRRM2B
HGNCiHGNC:17296 RRM2B
HPAiCAB006854
HPA028812
MalaCardsiRRM2B
MIMi604712 gene
612075 phenotype
613077 phenotype
neXtProtiNX_Q7LG56
OpenTargetsiENSG00000048392
Orphaneti329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
254892 Autosomal dominant progressive external ophthalmoplegia
480 Kearns-Sayre syndrome
255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
298 Mitochondrial neurogastrointestinal encephalomyopathy
PharmGKBiPA34866

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1567 Eukaryota
COG0208 LUCA
GeneTreeiENSGT00390000013305
InParanoidiQ7LG56
KOiK10808
OrthoDBi388324at2759
PhylomeDBiQ7LG56
TreeFamiTF300465

Enzyme and pathway databases

UniPathwayiUPA00326
BRENDAi1.17.4.1 2681
ReactomeiR-HSA-499943 Interconversion of nucleotide di- and triphosphates
R-HSA-5628897 TP53 Regulates Metabolic Genes
SIGNORiQ7LG56

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
RRM2B human
EvolutionaryTraceiQ7LG56

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RRM2B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
50484

Pharos

More...
Pharosi
Q7LG56

Protein Ontology

More...
PROi
PR:Q7LG56

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000048392 Expressed in 202 organ(s), highest expression level in quadriceps femoris
ExpressionAtlasiQ7LG56 baseline and differential
GenevisibleiQ7LG56 HS

Family and domain databases

CDDicd01049 RNRR2, 1 hit
Gene3Di1.10.620.20, 1 hit
InterProiView protein in InterPro
IPR009078 Ferritin-like_SF
IPR012348 RNR-like
IPR033909 RNR_small
IPR030475 RNR_small_AS
IPR000358 RNR_small_fam
PANTHERiPTHR23409 PTHR23409, 1 hit
PfamiView protein in Pfam
PF00268 Ribonuc_red_sm, 1 hit
SUPFAMiSSF47240 SSF47240, 1 hit
PROSITEiView protein in PROSITE
PS00368 RIBORED_SMALL, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRIR2B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q7LG56
Secondary accession number(s): B4E2N4
, Q17R22, Q75PQ6, Q75PQ7, Q75PY8, Q75PY9, Q86YE3, Q9NPD6, Q9NTD8, Q9NUW3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: July 5, 2004
Last modified: September 18, 2019
This is version 165 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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