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UniProtKB - Q7LG56 (RIR2B_HUMAN)

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Protein

Ribonucleoside-diphosphate reductase subunit M2 B

Gene

RRM2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Catalytic activityi

2'-deoxyribonucleoside diphosphate + thioredoxin disulfide + H2O = ribonucleoside diphosphate + thioredoxin.PROSITE-ProRule annotation1 Publication

Cofactori

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

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
Metal bindingi100Iron 11
Metal bindingi131Iron 11
Metal bindingi131Iron 21
Metal bindingi134Iron 11
Active sitei138PROSITE-ProRule annotation1
Metal bindingi194Iron 21
Metal bindingi228Iron 21
Metal bindingi231Iron 21

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

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

Names & Taxonomyi

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
Gene namesi
Name:RRM2B
Synonyms:P53R2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000048392.11
HGNCiHGNC:17296 RRM2B
MIMi604712 gene
neXtProtiNX_Q7LG56

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

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.
See also OMIM:612075
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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.
See also OMIM:612075
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.
See also OMIM:613077

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi50484
MalaCardsiRRM2B
MIMi612075 phenotype
613077 phenotype
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

Chemistry databases

ChEMBLiCHEMBL3301398
DrugBankiDB00242 Cladribine

Polymorphism and mutation databases

BioMutaiRRM2B
DMDMi74727333

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002281501 – 351Ribonucleoside-diphosphate reductase subunit M2 BAdd BLAST351

Proteomic databases

EPDiQ7LG56
MaxQBiQ7LG56
PaxDbiQ7LG56
PeptideAtlasiQ7LG56
PRIDEiQ7LG56
ProteomicsDBi68860
68861 [Q7LG56-2]
68862 [Q7LG56-3]
68863 [Q7LG56-4]
68864 [Q7LG56-5]

PTM databases

iPTMnetiQ7LG56
PhosphoSitePlusiQ7LG56

Expressioni

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

Inductioni

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

Gene expression databases

BgeeiENSG00000048392
ExpressionAtlasiQ7LG56 baseline and differential
GenevisibleiQ7LG56 HS

Organism-specific databases

HPAiCAB006854
HPA028812

Interactioni

Subunit structurei

Heterotetramer with large (RRM1) subunit. Interacts with p53/TP53. Interacts with RRM1 in response to DNA damage.5 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi119071, 17 interactors
ComplexPortaliCPX-369 Ribonucleoside-diphosphate reductase RR1 complex, RRM2B variant
DIPiDIP-24264N
DIP-48627N
IntActiQ7LG56, 9 interactors
STRINGi9606.ENSP00000251810

Chemistry databases

BindingDBiQ7LG56

Structurei

Secondary structure

1351
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi29 – 31Combined sources3
Turni33 – 35Combined sources3
Helixi37 – 39Combined sources3
Beta strandi42 – 44Combined sources3
Helixi50 – 61Combined sources12
Helixi66 – 68Combined sources3
Helixi74 – 78Combined sources5
Helixi83 – 109Combined sources27
Helixi111 – 114Combined sources4
Helixi118 – 145Combined sources28
Helixi149 – 156Combined sources8
Helixi158 – 161Combined sources4
Helixi163 – 177Combined sources15
Beta strandi179 – 181Combined sources3
Helixi183 – 195Combined sources13
Turni196 – 198Combined sources3
Helixi199 – 210Combined sources12
Helixi215 – 240Combined sources26
Helixi248 – 267Combined sources20
Helixi272 – 275Combined sources4
Helixi279 – 296Combined sources18
Helixi310 – 312Combined sources3

3D structure databases

ProteinModelPortaliQ7LG56
SMRiQ7LG56
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ7LG56

Family & Domainsi

Sequence similaritiesi

Belongs to the ribonucleoside diphosphate reductase small chain family.Curated

Phylogenomic databases

eggNOGiKOG1567 Eukaryota
COG0208 LUCA
GeneTreeiENSGT00390000013305
HOVERGENiHBG001647
InParanoidiQ7LG56
KOiK10808
PhylomeDBiQ7LG56
TreeFamiTF300465

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

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

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
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
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:
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]
UniGeneiHs.512592

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRIR2B_HUMAN
AccessioniPrimary (citable) accession number: Q7LG56
Secondary accession number(s): B4E2N4
, Q17R22, Q75PQ6, Q75PQ7, Q75PY8, Q75PY9, Q86YE3, Q9NPD6, Q9NTD8, Q9NUW3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: July 5, 2004
Last modified: June 20, 2018
This is version 155 of the entry and version 1 of the sequence. See complete history.
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.

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

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