Homo sapiens L. (human) [HSA]

FULL NAME: DNA ligase 4


DESCRIPTION:
Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.

STRUCTURE SIMILARITY:
Contains 2 BRCT domains.
Belongs to the ATP-dependent DNA ligase family.


CATALYTIC ACTIVITY:
ATP + (deoxyribonucleotide)(n) + (deoxyribonucleotide)(m) = AMP + diphosphate + (deoxyribonucleotide)(n+m).


PROTEIN TYPE(S):
DNA ligase


RELATED PATHWAY(S):
non-homologous end-joining (NHEJ)


RELATED DISEASE(S):
severe combined immunodeficiency, Athabaskan type (SCIDA)
LIG4 syndrome
multiple myeloma (AL), resistance to


Amino acids sequence

        10         20         30         40         50         60
MAASQTSQTV ASHVPFADLC STLERIQKSK GRAEKIRHFR EFLDSWRKFH DALHKNHKDV
        70         80         90        100        110        120
TDSFYPAMRL ILPQLERERM AYGIKETMLA KLYIELLNLP RDGKDALKLL NYRTPTGTHG
       130        140        150        160        170        180
DAGDFAMIAY FVLKPRCLQK GSLTIQQVND LLDSIASNNS AKRKDLIKKS LLQLITQSSA
       190        200        210        220        230        240
LEQKWLIRMI IKDLKLGVSQ QTIFSVFHND AAELHNVTTD LEKVCRQLHD PSVGLSDISI
       250        260        270        280        290        300
TLFSAFKPML AAIADIEHIE KDMKHQSFYI ETKLDGERMQ MHKDGDVYKY FSRNGYNYTD
       310        320        330        340        350        360
QFGASPTEGS LTPFIHNAFK ADIQICILDG EMMAYNPNTQ TFMQKGTKFD IKRMVEDSDL
       370        380        390        400        410        420
QTCYCVFDVL MVNNKKLGHE TLRKRYEILS SIFTPIPGRI EIVQKTQAHT KNEVIDALNE
       430        440        450        460        470        480
AIDKREEGIM VKQPLSIYKP DKRGEGWLKI KPEYVSGLMD ELDILIVGGY WGKGSRGGMM
       490        500        510        520        530        540
SHFLCAVAEK PPPGEKPSVF HTLSRVGSGC TMKELYDLGL KLAKYWKPFH RKAPPSSILC
       550        560        570        580        590        600
GTEKPEVYIE PCNSVIVQIK AAEIVPSDMY KTGCTLRFPR IEKIRDDKEW HECMTLDDLE
       610        620        630        640        650        660
QLRGKASGKL ASKHLYIGGD DEPQEKKRKA APKMKKVIGI IEHLKAPNLT NVNKISNIFE
       670        680        690        700        710        720
DVEFCVMSGT DSQPKPDLEN RIAEFGGYIV QNPGPDTYCV IAGSENIRVK NIILSNKHDV
       730        740        750        760        770        780
VKPAWLLECF KTKSFVPWQP RFMIHMCPST KEHFAREYDC YGDSYFIDTD LNQLKEVFSG
       790        800        810        820        830        840
IKNSNEQTPE EMASLIADLE YRYSWDCSPL SMFRRHTVYL DSYAVINDLS TKNEGTRLAI
       850        860        870        880        890        900
KALELRFHGA KVVSCLAEGV SHVIIGEDHS RVADFKAFRR TFKRKFKILK ESWVTDSIDK
       910
CELQEENQYL I    

Encoded by LIG4 gene

FULL NAME: ligase IV, DNA, ATP-dependent


DESCRIPTION:
The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggctgcct cacaaacttc acaaactgtt gcatctcacg ttccttttgc agatttgtgt
        70         80         90        100        110        120
tcaactttag aacgaataca gaaaagtaaa ggacgtgcag aaaaaatcag acacttcagg
       130        140        150        160        170        180
gaatttttag attcttggag aaaatttcat gatgctcttc ataagaacca caaagatgtc
       190        200        210        220        230        240
acagactctt tttatccagc aatgagacta attcttcctc agctagaaag agagagaatg
       250        260        270        280        290        300
gcctatggaa ttaaagaaac tatgcttgct aagctttata ttgagttgct taatttacct
       310        320        330        340        350        360
agagatggaa aagatgccct caaactttta aactacagaa cacccactgg aactcatgga
       370        380        390        400        410        420
gatgctggag actttgcaat gattgcatat tttgtgttga agccaagatg tttacagaaa
       430        440        450        460        470        480
ggaagtttaa ccatacagca agtaaacgac cttttagact caattgccag caataattct
       490        500        510        520        530        540
gctaaaagaa aagacctaat aaaaaagagc cttcttcaac ttataactca gagttcagca
       550        560        570        580        590        600
cttgagcaaa agtggcttat acggatgatc ataaaggatt taaagcttgg tgttagtcag
       610        620        630        640        650        660
caaactatct tttctgtttt tcataatgat gctgctgagt tgcataatgt cactacagat
       670        680        690        700        710        720
ctggaaaaag tctgtaggca actgcatgat ccttctgtag gactcagtga tatttctatc
       730        740        750        760        770        780
actttatttt ctgcatttaa accaatgcta gctgctattg cagatattga gcacattgag
       790        800        810        820        830        840
aaggatatga aacatcagag tttctacata gaaaccaagc tagatggtga acgtatgcaa
       850        860        870        880        890        900
atgcacaaag atggagatgt atataaatac ttctctcgaa atggatataa ctacactgat
       910        920        930        940        950        960
cagtttggtg cttctcctac tgaaggttct cttaccccat tcattcataa tgcattcaaa
       970        980        990       1000       1010       1020
gcagatatac aaatctgtat tcttgatggt gagatgatgg cctataatcc taatacacaa
      1030       1040       1050       1060       1070       1080
actttcatgc aaaagggaac taagtttgat attaaaagaa tggtagagga ttctgatctg
      1090       1100       1110       1120       1130       1140
caaacttgtt attgtgtttt tgatgtattg atggttaata ataaaaagct agggcatgag
      1150       1160       1170       1180       1190       1200
actctgagaa agaggtatga gattcttagt agtattttta caccaattcc aggtagaata
      1210       1220       1230       1240       1250       1260
gaaatagtgc agaaaacaca agctcatact aagaatgaag taattgatgc attgaatgaa
      1270       1280       1290       1300       1310       1320
gcaatagata aaagagaaga gggaattatg gtaaaacaac ctctatccat ctacaagcca
      1330       1340       1350       1360       1370       1380
gacaaaagag gtgaagggtg gttaaaaatt aaaccagagt atgtcagtgg actaatggat
      1390       1400       1410       1420       1430       1440
gaattggaca ttttaattgt tggaggatat tggggtaaag gatcacgggg tggaatgatg
      1450       1460       1470       1480       1490       1500
tctcattttc tgtgtgcagt agcagagaag ccccctcctg gtgagaagcc atctgtgttt
      1510       1520       1530       1540       1550       1560
catactctct ctcgtgttgg gtctggctgc accatgaaag aactgtatga tctgggtttg
      1570       1580       1590       1600       1610       1620
aaattggcca agtattggaa gccttttcat agaaaagctc caccaagcag cattttatgt
      1630       1640       1650       1660       1670       1680
ggaacagaga agccagaagt atacattgaa ccttgtaatt ctgtcattgt tcagattaaa
      1690       1700       1710       1720       1730       1740
gcagcagaga tcgtacccag tgatatgtat aaaactggct gcaccttgcg ttttccacga
      1750       1760       1770       1780       1790       1800
attgaaaaga taagagatga caaggagtgg catgagtgca tgaccctgga cgacctagaa
      1810       1820       1830       1840       1850       1860
caacttaggg ggaaggcatc tggtaagctc gcatctaaac acctttatat aggtggtgat
      1870       1880       1890       1900       1910       1920
gatgaaccac aagaaaaaaa gcggaaagct gccccaaaga tgaagaaagt tattggaatt
      1930       1940       1950       1960       1970       1980
attgagcact taaaagcacc taaccttact aacgttaaca aaatttctaa tatatttgaa
      1990       2000       2010       2020       2030       2040
gatgtagagt tttgtgttat gagtggaaca gatagccagc caaagcctga cctggagaac
      2050       2060       2070       2080       2090       2100
agaattgcag aatttggtgg ttatatagta caaaatccag gcccagacac gtactgtgta
      2110       2120       2130       2140       2150       2160
attgcagggt ctgagaacat cagagtgaaa aacataattt tgtcaaataa acatgatgtt
      2170       2180       2190       2200       2210       2220
gtcaagcctg catggctttt agaatgtttt aagaccaaaa gctttgtacc atggcagcct
      2230       2240       2250       2260       2270       2280
cgctttatga ttcatatgtg cccatcaacc aaagaacatt ttgcccgtga atatgattgc
      2290       2300       2310       2320       2330       2340
tatggtgata gttatttcat tgatacagac ttgaaccaac tgaaggaagt attctcagga
      2350       2360       2370       2380       2390       2400
attaaaaatt ctaacgagca gactcctgaa gaaatggctt ctctgattgc tgatttagaa
      2410       2420       2430       2440       2450       2460
tatcggtatt cctgggattg ctctcctctc agtatgtttc gacgccacac cgtttatttg
      2470       2480       2490       2500       2510       2520
gactcgtatg ctgttattaa tgacctgagt accaaaaatg aggggacaag gttagctatt
      2530       2540       2550       2560       2570       2580
aaagccttgg agcttcggtt tcatggagca aaagtagttt cttgtttagc tgagggagtg
      2590       2600       2610       2620       2630       2640
tctcatgtaa taattgggga agatcatagt cgtgttgcag attttaaagc ttttagaaga
      2650       2660       2670       2680       2690       2700
acttttaaga gaaagtttaa aatcctaaaa gaaagttggg taactgattc aatagacaag
      2710       2720       2730
tgtgaattac aagaagaaaa ccagtatttg atttaa  

Last modification date: Feb. 6, 2012