Homo sapiens L. (human) [HSA]

FULL NAME: E3 ubiquitin-protein ligase RNF168


DESCRIPTION:
E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and ubiquitinates histone H2A and H2AX, leading to amplify the RNF8-dependent H2A ubiquitination and promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1.

STRUCTURE SIMILARITY:
Contains 1 RING-type zinc finger.
Belongs to the RNF168 family.


RELATED DISEASE(S):
RIDDLE syndrome


Amino acids sequence

        10         20         30         40         50         60
MALPKDAIPS LSECQCGICM EILVEPVTLP CNHTLCKPCF QSTVEKASLC CPFCRRRVSS
        70         80         90        100        110        120
WTRYHTRRNS LVNVELWTII QKHYPRECKL RASGQESEEV ADDYQPVRLL SKPGELRREY
       130        140        150        160        170        180
EEEISKVAAE RRASEEEENK ASEEYIQRLL AEEEEEEKRQ AEKRRRAMEE QLKSDEELAR
       190        200        210        220        230        240
KLSIDINNFC EGSISASPLN SRKSDPVTPK SEKKSKNKQR NTGDIQKYLT PKSQFGSASH
       250        260        270        280        290        300
SEAVQEVRKD SVSKDIDSSD RKSPTGQDTE IEDMPTLSPQ ISLGVGEQGA DSSIESPMPW
       310        320        330        340        350        360
LCACGAEWYH EGNVKTRPSN HGKELCVLSH ERPKTRVPYS KETAVMPCGR TESGCAPTSG
       370        380        390        400        410        420
VTQTNGNNTG ETENEESCLL ISKEISKRKN QESSFEAVKD PCFSAKRRKV SPESSPDQEE
       430        440        450        460        470        480
TEINFTQKLI DLEHLLFERH KQEEQDRLLA LQLQKEVDKE QMVPNRQKGS PDEYHLRATS
       490        500        510        520        530        540
SPPDKVLNGQ RKNPKDGNFK RQTHTKHPTP ERGSRDKNRQ VSLKMQLKQS VNRRKMPNST
       550        560        570
RDHCKVSKSA HSLQPSISQK SVFQMFQRCT K  

Encoded by RNF168 gene

FULL NAME: ring finger protein 168


OTHER NAME(S):
FLJ35794
FLJ39749


DESCRIPTION:
This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]


Nucleic acid sequence

        10         20         30         40         50         60
atggctctac ccaaagacgc catcccctcg ctgtccgagt gccagtgcgg gatctgcatg
        70         80         90        100        110        120
gaaatcctcg tggagcccgt caccctcccg tgtaaccaca cgctgtgtaa accgtgcttc
       130        140        150        160        170        180
cagtcgaccg tcgaaaaggc gagtttatgc tgtcccttct gtcgccgccg ggtatcgtcg
       190        200        210        220        230        240
tggactcggt accatacccg aagaaattct ctcgtcaacg tggaactgtg gacgataatt
       250        260        270        280        290        300
caaaaacact atcccaggga gtgcaagctt agagcgtctg gccaagaatc agaggaagtg
       310        320        330        340        350        360
gctgatgact atcagccagt tcgtctgctc agtaaacctg gggaactgag aagagaatat
       370        380        390        400        410        420
gaagaggaaa taagcaaggt ggcggcagag cgacgggcca gcgaggaaga agaaaacaaa
       430        440        450        460        470        480
gccagtgaag aatacataca gaggttgttg gcagaggagg aagaagagga aaaaagacag
       490        500        510        520        530        540
gcagaaaaaa ggcgaagagc gatggaagaa caactgaaaa gtgatgagga actggcaaga
       550        560        570        580        590        600
aagctaagca ttgatattaa caatttctgt gagggaagta tctcggcttc tcccttgaat
       610        620        630        640        650        660
tccagaaaat ctgatccagt tacacccaag tctgaaaaga aaagtaagaa caaacaaaga
       670        680        690        700        710        720
aacactggag atattcagaa gtatttgaca ccgaaatctc agtttgggtc agcctcacac
       730        740        750        760        770        780
tctgaagctg tacaagaagt caggaaagac tccgtatcta aggacattga cagtagtgat
       790        800        810        820        830        840
aggaaaagcc caacagggca agacacagaa atagaagata tgccgacact ttctccacag
       850        860        870        880        890        900
atatcccttg gagttggaga acaaggtgca gattcttcaa tagagtcccc tatgccatgg
       910        920        930        940        950        960
ttatgtgcct gtggtgccga atggtaccat gaaggaaacg tcaaaacaag accaagcaat
       970        980        990       1000       1010       1020
catgggaaag agttatgtgt cttaagtcac gagcgaccta aaaccagagt tccctactcg
      1030       1040       1050       1060       1070       1080
aaagaaactg cagttatgcc ttgtggcaga acagaaagtg ggtgcgcccc cacatcaggg
      1090       1100       1110       1120       1130       1140
gtgacacaga caaatggaaa caacacaggt gagacagaaa atgaagagtc gtgcctactg
      1150       1160       1170       1180       1190       1200
atcagtaagg agatttccaa aagaaaaaac caagaatctt cctttgaagc agtcaaggat
      1210       1220       1230       1240       1250       1260
ccatgctttt ctgcaaaaag aagaaaagtg tcccccgaat cttccccaga tcaagaggaa
      1270       1280       1290       1300       1310       1320
acagaaataa actttaccca aaaactgata gatttggagc atctactgtt tgagagacat
      1330       1340       1350       1360       1370       1380
aaacaagaag aacaggacag gttattggca ttacaacttc agaaggaggt ggataaagag
      1390       1400       1410       1420       1430       1440
caaatggtgc caaaccggca aaaaggatcc ccagatgagt atcacttacg cgctacatcc
      1450       1460       1470       1480       1490       1500
tcccctccag acaaagtgct aaatggacag aggaagaatc ccaaagatgg gaacttcaaa
      1510       1520       1530       1540       1550       1560
aggcaaactc acacaaagca tccaacacca gagagaggct caagggacaa aaataggcaa
      1570       1580       1590       1600       1610       1620
gtgtctttaa agatgcagtt gaagcagtca gttaatagaa gaaagatgcc aaattctact
      1630       1640       1650       1660       1670       1680
agagatcact gtaaggtatc caaaagtgct cactccctac agcctagcat ttcacagaaa
      1690       1700       1710
agtgtttttc agatgtttca gagatgcaca aagtaa  

Last modification date: Oct. 2, 2011