Homo sapiens L. (human) [HSA]

FULL NAME: Ribonucleoside-diphosphate reductase subunit M2 B


DESCRIPTION:
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.

STRUCTURE SIMILARITY:
Belongs to the ribonucleoside diphosphate reductase small chain family.


CATALYTIC ACTIVITY:
2'-deoxyribonucleoside diphosphate + thioredoxin disulfide + H(2)O = ribonucleoside diphosphate + thioredoxin.


RELATED PATHWAY(S):
modulation of nucleotide pools


RELATED DISEASE(S):
progressive external ophthalmoplegia, autosomal dominant, with mitochondrial DNA deletions 5 (PEOA5)
mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
mitochondrial DNA depletion syndrome 8B (MNGIE type)


Amino acids sequence

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

Encoded by RRM2B gene

FULL NAME: ribonucleotide reductase M2 B (TP53 inducible)


OTHER NAME(S):
DKFZp686M05248
MGC102856
MGC42116
MTDPS8A
MTDPS8B
P53R2


DESCRIPTION:
This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]


Nucleic acid sequence

        10         20         30         40         50         60
atgttgctgt tgcgtcttcc ccctcaccgc agtcacgcca gcccgttaga ttgcaagttg
        70         80         90        100        110        120
caggaccgct gtaggaaatg ttattcgccg cggtcaggac aggcctgtcc gcccgccctc
       130        140        150        160        170        180
gccgcagcct ggcttcgtcg ttgcgagcgc cggggaggcc gtccccgggg agggcggagg
       190        200        210        220        230        240
aaggagctga ctttgggttt gcgtcccgct cgctgctctg ccccggggcc agccaaggac
       250        260        270        280        290        300
gacgcttgga ggcctcaggc cgggagatca tcttcagaca ccaacgaaag tgaaataaag
       310        320        330        340        350        360
tcaaatgaag agccactcct aagaaagagt tctcgccggt ttgtcatctt tccaatccag
       370        380        390        400        410        420
taccctgata tttggaaaat gtataaacag gcacaggctt ccttctggac agcagaagag
       430        440        450        460        470        480
gtcgacttat caaaggatct ccctcactgg aacaagctta aagcagatga gaagtacttc
       490        500        510        520        530        540
atctctcaca tcttagcctt ttttgcagcc agtgatggaa ttgtaaatga aaatttggtg
       550        560        570        580        590        600
gagcgcttta gtcaggaggt gcaggttcca gaggctcgct gtttctatgg ctttcaaatt
       610        620        630        640        650        660
ctcatcgaga atgttcactc agagatgtac agtttgctga tagacactta catcagagat
       670        680        690        700        710        720
cccaagaaaa gggaattttt atttaatgca attgaaacca tgccctatgt taagaaaaaa
       730        740        750        760        770        780
gcagattggg ccttgcgatg gatagcagat agaaaatcta cttttgggga aagagtggtg
       790        800        810        820        830        840
gcctttgctg ctgtagaagg agttttcttc tcaggatctt ttgctgctat attctggcta
       850        860        870        880        890        900
aagaagagag gtcttatgcc aggactcact ttttccaatg aactcatcag cagagatgaa
       910        920        930        940        950        960
ggacttcact gtgactttgc ttgcctgatg ttccaatact tagtaaataa gccttcagaa
       970        980        990       1000       1010       1020
gaaagggtca gggagatcat tgttgatgct gtcaaaattg agcaggagtt tttaacagaa
      1030       1040       1050       1060       1070       1080
gccttgccag ttggcctcat tggaatgaat tgcattttga tgaaacagta cattgagttt
      1090       1100       1110       1120       1130       1140
gtagctgaca gattacttgt ggaacttgga ttctcaaagg tttttcaggc agaaaatcct
      1150       1160       1170       1180       1190       1200
tttgatttta tggaaaacat ttctttagaa ggaaaaacaa atttctttga gaaacgagtt
      1210       1220       1230       1240       1250       1260
tcagagtatc agcgttttgc agttatggca gaaaccacag ataacgtctt caccttggat
      1270
gcagattttt aa    

Last modification date: Oct. 2, 2011