Homo sapiens L. (human) [HSA]

FULL NAME: DNA repair protein complementing XP-G cells


DESCRIPTION:
Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too.

STRUCTURE SIMILARITY:
Belongs to the XPG/RAD2 endonuclease family. XPG subfamily.


SUBUNIT STRUCTURE:
Interacts with PCNA.


CATALYTIC ACTIVITY:
Endonuclease Hydrolase Nuclease


ENZYME REGULATION:
Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme. May bind an additional third magnesium ion after substrate binding By similarity.


PROTEIN TYPE(S):
DNase
endonuclease


RELATED PATHWAY(S):
nucleotide excision repair (NER)


RELATED DISEASE(S):
xeroderma pigmentosum, complementation group G (XPG)
cerebro-oculo-facio-skeletal syndrome 3 (COFS3)


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
MGVQGLWKLL ECSGRQVSPE ALEGKILAVD ISIWLNQALK GVRDRHGNSI ENPHLLTLFH
        70         80         90        100        110        120
RLCKLLFFRI RPIFVFDGDA PLLKKQTLVK RRQRKDLASS DSRKTTEKLL KTFLKRQAIK
       130        140        150        160        170        180
TAFRSKRDEA LPSLTQVRRE NDLYVLPPLQ EEEKHSSEEE DEKEWQERMN QKQALQEEFF
       190        200        210        220        230        240
HNPQAIDIES EDFSSLPPEV KHEILTDMKE FTKRRRTLFE AMPEESDDFS QYQLKGLLKK
       250        260        270        280        290        300
NYLNQHIEHV QKEMNQQHSG HIRRQYEDEG GFLKEVESRR VVSEDTSHYI LIKGIQAKTV
       310        320        330        340        350        360
AEVDSESLPS SSKMHGMSFD VKSSPCEKLK TEKEPDATPP SPRTLLAMQA ALLGSSSEEE
       370        380        390        400        410        420
LESENRRQAR GRNAPAAVDE GSISPRTLSA IKRALDDDED VKVCAGDDVQ TGGPGAEEMR
       430        440        450        460        470        480
INSSTENSDE GLKVRDGKGI PFTATLASSS VNSAEEHVAS TNEGREPTDS VPKEQMSLVH
       490        500        510        520        530        540
VGTEAFPISD ESMIKDRKDR LPLESAVVRH SDAPGLPNGR ELTPASPTCT NSVSKNETHA
       550        560        570        580        590        600
EVLEQQNELC PYESKFDSSL LSSDDETKCK PNSASEVIGP VSLQETSSIV SVPSEAVDNV
       610        620        630        640        650        660
ENVVSFNAKE HENFLETIQE QQTTESAGQD LISIPKAVEP MEIDSEESES DGSFIEVQSV
       670        680        690        700        710        720
ISDEELQAEF PETSKPPSEQ GEEELVGTRE GEAPAESESL LRDNSERDDV DGEPQEAEKD
       730        740        750        760        770        780
AEDSLHEWQD INLEELETLE SNLLAQQNSL KAQKQQQERI AATVTGQMFL ESQELLRLFG
       790        800        810        820        830        840
IPYIQAPMEA EAQCAILDLT DQTSGTITDD SDIWLFGARH VYRNFFNKNK FVEYYQYVDF
       850        860        870        880        890        900
HNQLGLDRNK LINLAYLLGS DYTEGIPTVG CVTAMEILNE FPGHGLEPLL KFSEWWHEAQ
       910        920        930        940        950        960
KNPKIRPNPH DTKVKKKLRT LQLTPGFPNP AVAEAYLKPV VDDSKGSFLW GKPDLDKIRE
       970        980        990       1000       1010       1020
FCQRYFGWNR TKTDESLFPV LKQLDAQQTQ LRIDSFFRLA QQEKEDAKRI KSQRLNRAVT
      1030       1040       1050       1060       1070       1080
CMLRKEKEAA ASEIEAVSVA MEKEFELLDK AKRKTQKRGI TNTLEESSSL KRKRLSDSKR
      1090       1100       1110       1120       1130       1140
KNTCGGFLGE TCLSESSDGS SSEDAESSSL MNVQRRTAAK EPKTSASDSQ NSVKEAPVKN
      1150       1160       1170       1180
GGATTSSSSD SDDDGGKEKM VLVTARSVFG KKRRKLRRAR GRKRKT 

Encoded by ERCC5 gene

FULL NAME: excision repair cross-complementing rodent repair deficiency, complementation group 5


OTHER NAME(S):
COFS3
ERCM2
UVDR
XPG
XPGC


DESCRIPTION:
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]


Nucleic acid sequence

        10         20         30         40         50         60
atgggggtcc aggggctctg gaagctgctg gagtgctccg ggcggcaggt cagccccgaa
        70         80         90        100        110        120
gcgctggaag ggaagatcct ggctgttgat attagcattt ggttaaacca agcacttaaa
       130        140        150        160        170        180
ggagtccggg atcgccatgg gaactcaata gaaaatcctc atcttctcac tttgtttcat
       190        200        210        220        230        240
cggctctgca aactcttatt ttttcgaatt cgtcctattt ttgtgtttga tggggatgct
       250        260        270        280        290        300
ccactattga agaaacagac tttggtgaag agaaggcaga gaaaggactt agcgtccagt
       310        320        330        340        350        360
gactccagga aaacgacaga gaagcttctg aaaacatttt tgaaaagaca agccatcaaa
       370        380        390        400        410        420
actgccttca gaagcaaaag agatgaagca ctacccagtc ttacccaagt tcgaagagaa
       430        440        450        460        470        480
aacgacctct atgttttgcc tcctttacaa gaggaagaaa aacacagttc agaagaggaa
       490        500        510        520        530        540
gatgaaaaag aatggcaaga aagaatgaat caaaaacaag cattacagga agagttcttt
       550        560        570        580        590        600
cataatcctc aagcgataga tattgagtct gaggacttca gcagcctgcc ccctgaagta
       610        620        630        640        650        660
aagcatgaaa tcttgactga tatgaaagag ttcaccaagc gcagaagaac attatttgaa
       670        680        690        700        710        720
gcaatgccag aggagtctga tgacttttca cagtaccaac tcaaaggctt gcttaaaaag
       730        740        750        760        770        780
aactatctga accagcatat agaacatgtc caaaaggaaa tgaatcagca acattcagga
       790        800        810        820        830        840
cacatccgaa ggcagtatga agatgaaggg ggctttctga aggaggtaga gtcaaggaga
       850        860        870        880        890        900
gtggtctctg aagacacttc acattacatc ttgataaaag gtattcaagc taagacagtt
       910        920        930        940        950        960
gcagaagtgg attcagagtc tcttccttct tccagcaaaa tgcacggcat gtcttttgac
       970        980        990       1000       1010       1020
gtgaagtcat ctccatgtga aaaactgaag acagagaaag agcctgatgc tacccctcct
      1030       1040       1050       1060       1070       1080
tctccaagaa ctttactagc tatgcaagct gccctgctgg gaagtagctc agaagaggag
      1090       1100       1110       1120       1130       1140
ctggagagtg aaaatcgaag gcaggcccgt gggaggaacg cacctgctgc tgtagacgaa
      1150       1160       1170       1180       1190       1200
ggctccatat caccccggac tctttcagcc attaagagag ctcttgacga tgacgaagat
      1210       1220       1230       1240       1250       1260
gtaaaagtgt gtgctgggga tgatgtgcag acgggagggc caggagcaga agaaatgcgt
      1270       1280       1290       1300       1310       1320
ataaacagct ccaccgagaa cagtgatgaa ggacttaaag tgagagatgg aaaaggaata
      1330       1340       1350       1360       1370       1380
ccgtttactg caacacttgc gtcatctagt gtgaactctg cagaggagca cgtagccagc
      1390       1400       1410       1420       1430       1440
actaatgagg ggagagagcc cacagactca gttccaaaag aacaaatgtc acttgttcac
      1450       1460       1470       1480       1490       1500
gtggggactg aagcctttcc gataagtgat gagtctatga ttaaggacag aaaagatcgg
      1510       1520       1530       1540       1550       1560
ctgcctctgg agagtgcagt ggttagacat agtgacgcac ctgggctccc gaatggaagg
      1570       1580       1590       1600       1610       1620
gaactgacac cggcatctcc aacttgtaca aattctgtgt caaagaatga aacacatgct
      1630       1640       1650       1660       1670       1680
gaagtgcttg agcagcagaa cgaactttgc ccatatgaga gtaaattcga ttcttctctt
      1690       1700       1710       1720       1730       1740
ctttcaagtg atgatgaaac aaaatgtaaa ccgaattctg cttctgaagt cattggccct
      1750       1760       1770       1780       1790       1800
gtcagtttgc aagaaacaag tagcatagta agtgtccctt cagaggcagt agataatgtg
      1810       1820       1830       1840       1850       1860
gaaaatgtgg tgtcatttaa tgctaaagag catgagaatt ttctggaaac catccaagaa
      1870       1880       1890       1900       1910       1920
cagcagacca ctgaatctgc aggccaggat ttaatttcca ttccaaaggc cgtggaacca
      1930       1940       1950       1960       1970       1980
atggaaattg actcggaaga aagtgaatct gatggaagtt tcattgaagt gcaaagtgtg
      1990       2000       2010       2020       2030       2040
attagtgatg aggaacttca agcagaattc cctgaaactt ccaaacctcc ctcagaacaa
      2050       2060       2070       2080       2090       2100
ggcgaagagg aactggtagg aactagggag ggagaagccc ctgctgagtc cgagagcctc
      2110       2120       2130       2140       2150       2160
ctgagggaca actctgagag ggacgacgtg gatggtgagc cacaggaagc tgagaaagat
      2170       2180       2190       2200       2210       2220
gcggaagatt cgctccatga atggcaagat attaatttgg aggagttgga aactctggag
      2230       2240       2250       2260       2270       2280
agcaacctct tagcacagca gaattcactg aaagctcaaa aacagcagca agaacggatc
      2290       2300       2310       2320       2330       2340
gctgctactg tcaccggaca gatgttcctg gaaagccagg aactcctgcg cctgttcggc
      2350       2360       2370       2380       2390       2400
attccctaca tccaggctcc catggaagca gaggcgcagt gcgccatcct ggacctgact
      2410       2420       2430       2440       2450       2460
gatcagactt ccggaaccat cactgatgac agtgatatct ggctgtttgg agcgcggcat
      2470       2480       2490       2500       2510       2520
gtctatagaa acttttttaa taaaaacaag tttgtagaat attatcaata tgtggacttt
      2530       2540       2550       2560       2570       2580
cacaatcaat tgggattgga ccggaataag ttaataaatt tggcttattt gcttggaagt
      2590       2600       2610       2620       2630       2640
gattataccg aaggaatacc aactgtgggt tgtgtaaccg ccatggaaat tctcaatgaa
      2650       2660       2670       2680       2690       2700
ttccctgggc atggcctgga acctctccta aaattctcag aatggtggca tgaagctcaa
      2710       2720       2730       2740       2750       2760
aaaaatccaa agataagacc taatcctcat gacaccaaag tgaaaaaaaa attacggaca
      2770       2780       2790       2800       2810       2820
ttgcaactca cccctggctt tcctaaccca gctgttgccg aggcctacct caaacccgtg
      2830       2840       2850       2860       2870       2880
gtggatgact cgaagggatc ctttctgtgg gggaaacctg atctcgacaa aattagagaa
      2890       2900       2910       2920       2930       2940
ttttgtcagc ggtatttcgg ctggaacaga acgaagacag atgaatctct gtttcctgta
      2950       2960       2970       2980       2990       3000
ttaaagcaac tcgatgccca gcagacacag ctccgaattg attccttctt tagattagca
      3010       3020       3030       3040       3050       3060
caacaggaga aagaagatgc taaacgtatt aagagccaga gactaaacag agctgtgaca
      3070       3080       3090       3100       3110       3120
tgtatgctaa ggaaagagaa agaagcagca gccagcgaaa tagaagcagt ttctgttgcc
      3130       3140       3150       3160       3170       3180
atggagaaag aatttgagct acttgataag gcaaaacgaa aaacccagaa gagaggcata
      3190       3200       3210       3220       3230       3240
acaaatacct tagaagagtc atcaagcctg aaaagaaaga ggctttcaga ttctaaacga
      3250       3260       3270       3280       3290       3300
aagaatacat gcggtggatt tttgggggag acctgcctct cagaatcatc tgatggatct
      3310       3320       3330       3340       3350       3360
tcaagtgaag atgctgaaag ttcatcttta atgaatgtac aaaggagaac agctgcgaaa
      3370       3380       3390       3400       3410       3420
gagccaaaaa ccagtgcttc agattcgcag aactcagtga aggaagctcc cgtgaagaat
      3430       3440       3450       3460       3470       3480
ggaggtgcga ccaccagcag ctctagtgat agtgatgacg atggagggaa agagaagatg
      3490       3500       3510       3520       3530       3540
gtcctcgtga ccgccagatc tgtgtttggg aagaaaagaa ggaaactaag acgtgcgagg
      3550       3560
ggaagaaaaa ggaaaaccta a   

Last modification date: Sept. 12, 2012