Homo sapiens L. (human) [HSA]

FULL NAME: DNA repair endonuclease XPF


DESCRIPTION:
Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.
ERCC4 is an essential human gene in the nucleotide excision repair (NER) pathway, which is responsible for removing UV-C photoproducts and bulky adducts from DNA. Among the NER genes, ERCC4 and ERCC1 are also uniquely involved in removing DNA interstrand cross-linking damage. The ERCC1-ERCC4 heterodimer, like the homologous Rad10-Rad1 complex, was recently found to possess an endonucleolytic activity that incises on the 5' side of damage.

STRUCTURE SIMILARITY:
Belongs to the XPF family.
Contains 1 ERCC4 domain.


SUBUNIT STRUCTURE:
Heterodimer composed of ERCC1 and XPF/ERCC4. Interacts with EME1. Interacts with SLX4/BTBD12; this interaction is direct and links the ERCC1-XPF/ERCC1 complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair.


PROTEIN TYPE(S):
DNase
endonuclease


RELATED PATHWAY(S):
Fanconi anemia (FA) pathway
nucleotide excision repair (NER)


RELATED DISEASE(S):
xeroderma pigmentosum, complementation group F (XPF)
XFE progeroid syndrome (XFEPS)


RELATED DAMAGE:
M3dA
M1dG
CPD
B[a]P-guanine
M1A (OPA)
M2G
intErstrand crosslinks (ICLs)
intrAstrand crosslink
M1C (OPC)
M3C
p-BQ-G
p-BQ-C
p-BQ-A
aflatoxin-FapyG
aflatoxin-G


Amino acids sequence

        10         20         30         40         50         60
MESGQPARRI AMAPLLEYER QLVLELLDTD GLVVCARGLG ADRLLYHFLQ LHCHPACLVL
        70         80         90        100        110        120
VLNTQPAEEE YFINQLKIEG VEHLPRRVTN EITSNSRYEV YTQGGVIFAT SRILVVDFLT
       130        140        150        160        170        180
DRIPSDLITG ILVYRAHRII ESCQEAFILR LFRQKNKRGF IKAFTDNAVA FDTGFCHVER
       190        200        210        220        230        240
VMRNLFVRKL YLWPRFHVAV NSFLEQHKPE VVEIHVSMTP TMLAIQTAIL DILNACLKEL
       250        260        270        280        290        300
KCHNPSLEVE DLSLENAIGK PFDKTIRHYL DPLWHQLGAK TKSLVQDLKI LRTLLQYLSQ
       310        320        330        340        350        360
YDCVTFLNLL ESLRATEKAF GQNSGWLFLD SSTSMFINAR ARVYHLPDAK MSKKEKISEK
       370        380        390        400        410        420
MEIKEGEETK KELVLESNPK WEALTEVLKE IEAENKESEA LGGPGQVLIC ASDDRTCSQL
       430        440        450        460        470        480
RDYITLGAEA FLLRLYRKTF EKDSKAEEVW MKFRKEDSSK RIRKSHKRPK DPQNKERAST
       490        500        510        520        530        540
KERTLKKKKR KLTLTQMVGK PEELEEEGDV EEGYRREISS SPESCPEEIK HEEFDVNLSS
       550        560        570        580        590        600
DAAFGILKEP LTIIHPLLGC SDPYALTRVL HEVEPRYVVL YDAELTFVRQ LEIYRASRPG
       610        620        630        640        650        660
KPLRVYFLIY GGSTEEQRYL TALRKEKEAF EKLIREKASM VVPEEREGRD ETNLDLVRGT
       670        680        690        700        710        720
ASADVSTDTR KAGGQEQNGT QQSIVVDMRE FRSELPSLIH RRGIDIEPVT LEVGDYILTP
       730        740        750        760        770        780
EMCVERKSIS DLIGSLNNGR LYSQCISMSR YYKRPVLLIE FDPSKPFSLT SRGALFQEIS
       790        800        810        820        830        840
SNDISSKLTL LTLHFPRLRI LWCPSPHATA ELFEELKQSK PQPDAATALA ITADSETLPE
       850        860        870        880        890        900
SEKYNPGPQD FLLKMPGVNA KNCRSLMHHV KNIAELAALS QDELTSILGN AANAKQLYDF
       910
IHTSFAEVVS KGKGKK    

Encoded by ERCC4 gene

FULL NAME: excision repair cross-complementing rodent repair deficiency, complementation group 4


OTHER NAME(S):
ERCC11
RAD1
XPF


DESCRIPTION:
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]


Nucleic acid sequence

        10         20         30         40         50         60
atggagtcag ggcagccggc tcgacggatt gccatggcgc cgctgctgga gtacgagcga
        70         80         90        100        110        120
cagctggtgc tggaactgct cgacactgac gggctagtag tgtgcgcccg cgggctcggc
       130        140        150        160        170        180
gcggaccggc tcctctacca ctttctccag ctgcactgcc acccagcctg cctggtgctg
       190        200        210        220        230        240
gtgctcaaca cgcagccggc cgaggaggag tattttatca atcagctgaa gatagaagga
       250        260        270        280        290        300
gttgaacacc tccctcgccg tgtaacaaat gaaatcacaa gcaacagtcg ctatgaagtt
       310        320        330        340        350        360
tacacacaag gtggtgttat atttgcgaca agtaggatac ttgtggttga cttcttgact
       370        380        390        400        410        420
gatagaatac cttcagattt aattactggc atcttggtgt atagagccca cagaataatc
       430        440        450        460        470        480
gagtcttgtc aagaagcatt catcttgcgc ctctttcgcc agaaaaacaa acgtggtttt
       490        500        510        520        530        540
attaaagctt tcacagacaa tgctgttgcc tttgatactg gtttttgtca tgtggaaaga
       550        560        570        580        590        600
gtgatgagaa atctttttgt gaggaaactg tatctgtggc caaggttcca tgtagcagta
       610        620        630        640        650        660
aactcatttt tagaacagca caaacctgaa gttgtagaaa tccatgtttc tatgacacct
       670        680        690        700        710        720
accatgcttg ctatacagac tgctatactg gacattttaa atgcatgtct aaaggaacta
       730        740        750        760        770        780
aaatgccata acccatcgct tgaagtggaa gatttatctt tagaaaatgc tattggaaaa
       790        800        810        820        830        840
ccttttgaca agacaatccg ccattatctg gatcctttgt ggcaccagct tggagccaag
       850        860        870        880        890        900
actaaatcct tagttcagga tttgaagata ttacgaactt tgctgcagta tctctctcag
       910        920        930        940        950        960
tatgattgtg tcacatttct taatcttctg gaatctctga gagcaacgga aaaagctttt
       970        980        990       1000       1010       1020
ggtcagaatt caggttggct gtttcttgac tccagcacct cgatgtttat aaatgctcga
      1030       1040       1050       1060       1070       1080
gcaagggttt atcatcttcc agatgccaaa atgagtaaaa aagaaaaaat atctgaaaaa
      1090       1100       1110       1120       1130       1140
atggaaatta aagaagggga agaaacaaaa aaggaactgg tcctagaaag caacccaaag
      1150       1160       1170       1180       1190       1200
tgggaggcac tgactgaagt attaaaagaa attgaggcag aaaataagga gagtgaagct
      1210       1220       1230       1240       1250       1260
cttggtggtc caggtcaagt actgatttgt gcaagtgatg accgaacatg ttcccagctg
      1270       1280       1290       1300       1310       1320
agagactata tcactcttgg agcggaggcc ttcttattga ggctctacag gaaaaccttt
      1330       1340       1350       1360       1370       1380
gagaaggata gcaaagctga agaagtctgg atgaaattta ggaaggaaga cagttcaaag
      1390       1400       1410       1420       1430       1440
agaattagga aatctcacaa aagacctaaa gacccccaaa acaaagaacg ggcttctacc
      1450       1460       1470       1480       1490       1500
aaagaaagaa ccctcaaaaa gaaaaaacgg aagttgacct taactcaaat ggtaggaaaa
      1510       1520       1530       1540       1550       1560
cctgaagaac tggaagagga aggagatgtc gaggaaggat atcgtcgaga aataagcagt
      1570       1580       1590       1600       1610       1620
agcccagaaa gctgcccgga agaaattaag catgaagaat ttgatgtaaa tttgtcatcg
      1630       1640       1650       1660       1670       1680
gatgctgctt tcggaatcct gaaagaaccc ctcactatca tccatccgct tctgggttgc
      1690       1700       1710       1720       1730       1740
agcgacccct atgctctgac aagggtacta catgaagtgg agccaagata cgtggttctt
      1750       1760       1770       1780       1790       1800
tatgacgcag agctaacctt tgttcggcag cttgaaattt acagggcgag taggcctggg
      1810       1820       1830       1840       1850       1860
aaacctctga gggtttactt tcttatatac ggaggttcaa ctgaggaaca acgctatctc
      1870       1880       1890       1900       1910       1920
actgctttgc ggaaagaaaa ggaagctttt gaaaaactca taagggaaaa agcaagcatg
      1930       1940       1950       1960       1970       1980
gttgtccctg aagaaagaga aggcagagat gaaacaaact tagacctagt aagaggcaca
      1990       2000       2010       2020       2030       2040
gcatctgcag atgtttccac tgacactcgg aaagccggtg gccaggaaca gaatggtaca
      2050       2060       2070       2080       2090       2100
cagcaaagca tagttgtgga tatgcgtgaa tttcgaagtg agcttccatc tctgatccat
      2110       2120       2130       2140       2150       2160
cgtcggggca ttgacattga acccgtgact ttagaggttg gagattacat cctcactcca
      2170       2180       2190       2200       2210       2220
gaaatgtgcg tggagcgcaa gagtatcagt gatttaatcg gctctttaaa taacggccgc
      2230       2240       2250       2260       2270       2280
ctctacagcc agtgcatctc catgtcccgc tactacaagc gtcccgtgct tctgattgag
      2290       2300       2310       2320       2330       2340
tttgacccta gcaagccttt ctctctcact tcccgaggtg ccttgtttca ggagatctcc
      2350       2360       2370       2380       2390       2400
agcaatgaca ttagttccaa actcactctt cttacacttc acttccccag actacggatt
      2410       2420       2430       2440       2450       2460
ctctggtgcc cctctcctca tgcaacggcg gagttgtttg aggagctgaa acaaagcaag
      2470       2480       2490       2500       2510       2520
ccacagcctg atgcggcgac agcactggcc attacagcag attctgaaac ccttcccgag
      2530       2540       2550       2560       2570       2580
tcagagaagt ataatcctgg tccccaagac ttcttgttaa aaatgccagg ggtgaatgcc
      2590       2600       2610       2620       2630       2640
aaaaactgcc gctccttgat gcaccacgtt aagaacatcg cagaattagc agccctgtca
      2650       2660       2670       2680       2690       2700
caagacgagc tcacgagtat tctggggaat gctgcaaatg ccaaacagct ttatgatttc
      2710       2720       2730       2740       2750
attcacacct cttttgcaga agtcgtatca aaaggaaaag ggaaaaagtg a

Last modification date: Nov. 18, 2011