Homo sapiens L. (human) [HSA]

FULL NAME: Three prime repair exonuclease 1


DESCRIPTION:
Exonuclease with a preference for double stranded DNA with mismatched 3' termini. May play a role in DNA repair.

STRUCTURE SIMILARITY:
Belongs to the exonuclease superfamily. TREX family.


CATALYTIC ACTIVITY:
Exonucleolytic cleavage in the 3'- to 5'-direction to yield nucleoside 5'-phosphates.


PROTEIN TYPE(S):
DNase
3'-5' exonuclease


RELATED PATHWAY(S):
Fanconi anemia (FA) pathway


RELATED DISEASE(S):
Aicardi-Goutieres syndrome 1 (AGS1)


RELATED DAMAGE:
3'-OH end


Amino acids sequence

        10         20         30         40         50         60
MGPGARRQGR IVQGRPEMCF CPPPTPLPPL RILTLGTHTP TPCSSPGSAA GTYPTMGSQA
        70         80         90        100        110        120
LPPGPMQTLI FFDMEATGLP FSQPKVTELC LLAVHRCALE SPPTSQGPPP TVPPPPRVVD
       130        140        150        160        170        180
KLSLCVAPGK ACSPAASEIT GLSTAVLAAH GRQCFDDNLA NLLLAFLRRQ PQPWCLVAHN
       190        200        210        220        230        240
GDRYDFPLLQ AELAMLGLTS ALDGAFCVDS ITALKALERA SSPSEHGPRK SYSLGSIYTR
       250        260        270        280        290        300
LYGQSPPDSH TAEGDVLALL SICQWRPQAL LRWVDAHARP FGTIRPMYGV TASARTKPRP
       310        320        330        340        350        360
SAVTTTAHLA TTRNTSPSLG ESRGTKDLPP VKDPGALSRE GLLAPLGLLA ILTLAVATLY

GLSLATPGE     

Encoded by TREX1 gene

FULL NAME: three prime repair exonuclease 1


OTHER NAME(S):
AGS1
CRV
DKFZp434J0310
DRN3
HERNS


DESCRIPTION:
This gene encodes the major 3'->5' DNA exonuclease in human cells. The protein is a non-processive exonuclease that may serve a proofreading function for a human DNA polymerase. It is also a component of the SET complex, and acts to rapidly degrade 3' ends of nicked DNA during granzyme A-mediated cell death. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, and Cree encephalitis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgggccctg gagctcgcag acagggcagg attgtgcagg gaaggcctga gatgtgcttc
        70         80         90        100        110        120
tgcccacccc ctaccccact ccctcccctt cggatcttaa cactgggcac tcacacaccc
       130        140        150        160        170        180
accccatgct cctctccagg ctcagcagca ggtacgtacc caaccatggg ctcgcaggcc
       190        200        210        220        230        240
ctgcccccgg ggcccatgca gaccctcatc tttttcgaca tggaggccac tggcttgccc
       250        260        270        280        290        300
ttctcccagc ccaaggtcac ggagctgtgc ctgctggctg tccacagatg tgccctggag
       310        320        330        340        350        360
agccccccca cctctcaggg gccacctccc acagttcctc caccaccgcg tgtggtagac
       370        380        390        400        410        420
aagctctccc tgtgtgtggc tccggggaag gcctgcagcc ctgcagccag cgagatcaca
       430        440        450        460        470        480
ggtctgagca cagctgtgct ggcagcgcat gggcgtcaat gttttgatga caacctggcc
       490        500        510        520        530        540
aacctgctcc tagccttcct gcggcgccag ccacagccct ggtgcctggt ggcacacaat
       550        560        570        580        590        600
ggtgaccgct acgacttccc cctgctccaa gcagagctgg ctatgctggg cctcaccagt
       610        620        630        640        650        660
gctctggatg gtgccttctg tgtggatagc atcactgcgc tgaaggccct ggagcgagca
       670        680        690        700        710        720
agcagcccct cagaacacgg cccaaggaag agctacagcc taggcagcat ctacactcgc
       730        740        750        760        770        780
ctgtatgggc agtcccctcc agactcgcac acggctgagg gtgatgtcct ggccctgctc
       790        800        810        820        830        840
agcatctgtc agtggagacc acaggccctg ctgcggtggg tggatgctca cgccaggcct
       850        860        870        880        890        900
ttcggcacca tcaggcccat gtatggggtc acagcctctg ctaggaccaa gccaagacca
       910        920        930        940        950        960
tctgctgtca caaccactgc acacctggcc acaaccagga acactagtcc cagccttgga
       970        980        990       1000       1010       1020
gagagcaggg gtaccaagga tcttcctcca gtgaaggacc ctggagccct atccagggag
      1030       1040       1050       1060       1070       1080
gggctgctgg ccccactggg tctgctggcc atcctgacct tggcagtagc cacactgtat
      1090       1100       1110
ggactatccc tggccacacc tggggagtag   

Last modification date: Oct. 2, 2011