Homo sapiens L. (human) [HSA]

FULL NAME: DNA nucleotidylexotransferase


DESCRIPTION:
Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5'-triphosphate to the 3'-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells.

STRUCTURE SIMILARITY:
Belongs to the DNA polymerase type-X family.
Contains 1 BRCT domain.


CATALYTIC ACTIVITY:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).


PROTEIN TYPE(S):
X-family DNA polymerase


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


RELATED DISEASE(S):
B-cell acute lymphoblastic leukemia (B-ALL)
T-cell acute lymphoblastic leukemia (T-ALL)


Amino acids sequence

        10         20         30         40         50         60
MDPPRASHLS PRKKRPRQTG ALMASSPQDI KFQDLVVFIL EKKMGTTRRA FLMELARRKG
        70         80         90        100        110        120
FRVENELSDS VTHIVAENNS GSDVLEWLQA QKVQVSSQPE LLDVSWLIEC IRAGKPVEMT
       130        140        150        160        170        180
GKHQLVVRRD YSDSTNPGPP KTPPIAVQKI SQYACQRRTT LNNCNQIFTD AFDILAENCE
       190        200        210        220        230        240
FRENEDSCVT FMRAASVLKS LPFTIISMKD TEGIPCLGSK VKGIIEEIIE DGESSEVKAV
       250        260        270        280        290        300
LNDERYQSFK LFTSVFGVGL KTSEKWFRMG FRTLSKVRSD KSLKFTRMQK AGFLYYEDLV
       310        320        330        340        350        360
SCVTRAEAEA VSVLVKEAVW AFLPDAFVTM TGGFRRGKKM GHDVDFLITS PGSTEDEEQL
       370        380        390        400        410        420
LQKVMNLWEK KGLLLYYDLV ESTFEKLRLP SRKVDALDHF QKCFLIFKLP RQRVDSDQSS
       430        440        450        460        470        480
WQEGKTWKAI RVDLVLCPYE RRAFALLGWT GSRFERDLRR YATHERKMIL DNHALYDKTK
       490        500
RIFLKAESEE EIFAHLGLDY IEPWERNA   

Encoded by DNTT gene

FULL NAME: deoxynucleotidyltransferase, terminal


OTHER NAME(S):
TDT


DESCRIPTION:
This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggatccac cacgagcgtc ccacttgagc cctcggaaga agagaccccg gcagacgggt
        70         80         90        100        110        120
gccttgatgg cctcctctcc tcaagacatc aaatttcaag atttggtcgt cttcattttg
       130        140        150        160        170        180
gagaagaaaa tgggaaccac ccgcagagcg ttcctcatgg agctggcccg caggaaaggg
       190        200        210        220        230        240
ttcagggttg aaaatgagct cagtgattct gtcacccaca tcgtagcaga gaacaactcg
       250        260        270        280        290        300
ggttcggatg ttctggagtg gcttcaagca cagaaagtac aagtcagctc acaaccagag
       310        320        330        340        350        360
ctcctcgatg tctcctggct gatcgaatgc ataagagcag ggaaaccggt ggaaatgaca
       370        380        390        400        410        420
ggaaaacacc agcttgttgt gagaagagac tattcagata gcaccaaccc aggccccccg
       430        440        450        460        470        480
aagactccac caattgctgt acaaaagatc tcccagtatg cgtgtcagag aagaaccact
       490        500        510        520        530        540
ttaaacaact gtaaccagat attcacggat gcctttgata tactggctga aaactgtgag
       550        560        570        580        590        600
tttagagaaa atgaagactc ctgtgtgaca tttatgagag cagcttctgt attgaaatct
       610        620        630        640        650        660
ctgccattca caatcatcag tatgaaggac acagaaggaa ttccctgcct ggggtccaag
       670        680        690        700        710        720
gtgaagggta tcatagagga gattattgaa gatggagaaa gttctgaagt taaagctgtg
       730        740        750        760        770        780
ttaaatgatg aacgatatca atccttcaaa ctctttactt ctgtatttgg agtggggctg
       790        800        810        820        830        840
aagacttctg agaagtggtt caggatgggt ttcagaactc tgagtaaagt aaggtcggac
       850        860        870        880        890        900
aaaagcctga aatttacacg aatgcagaaa gcaggatttc tgtattatga agaccttgtc
       910        920        930        940        950        960
agctgtgtga ccagggcaga agcagaggcc gtcagtgtgc tggttaaaga ggctgtctgg
       970        980        990       1000       1010       1020
gcatttcttc cggatgcttt cgtcaccatg acaggagggt tccggagggg taagaagatg
      1030       1040       1050       1060       1070       1080
gggcatgatg tagatttttt aattaccagc ccaggatcaa cagaggatga agagcaactt
      1090       1100       1110       1120       1130       1140
ttacagaaag tgatgaactt atgggaaaag aagggattac ttttatatta tgaccttgtg
      1150       1160       1170       1180       1190       1200
gagtcaacat ttgaaaagct caggttgcct agcaggaagg ttgatgcttt ggatcatttt
      1210       1220       1230       1240       1250       1260
caaaagtgct ttctgatttt caaattgcct cgtcaaagag tggacagtga ccagtccagc
      1270       1280       1290       1300       1310       1320
tggcaggaag gaaagacctg gaaggccatc cgtgtggatt tagttctgtg cccctacgag
      1330       1340       1350       1360       1370       1380
cgtcgtgcct ttgccctgtt gggatggact ggctcccggt ttgagagaga cctccggcgc
      1390       1400       1410       1420       1430       1440
tatgccacac atgagcggaa gatgattctg gataaccatg ctttatatga caagaccaag
      1450       1460       1470       1480       1490       1500
aggatattcc tcaaagcaga aagtgaagaa gaaatttttg cgcatctggg attggattat
      1510       1520
attgaaccgt gggaaagaaa tgcctag   

Last modification date: Oct. 2, 2011