Homo sapiens L. (human) [HSA]

FULL NAME: TFIIH basal transcription factor complex helicase XPD subunit


DESCRIPTION:
ATP-dependent 5'-3' DNA helicase, component of the core-TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.

STRUCTURE SIMILARITY:
Belongs to the helicase family. RAD3/XPD subfamily.
Contains 1 helicase ATP-binding domain.


CATALYTIC ACTIVITY:
ATP + H(2)O = ADP + phosphate.


POST-TRANSLATIONAL MODIFICATION:
ISGylated (Probable).


PROTEIN TYPE(S):
5'-3' DNA helicase


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


RELATED DISEASE(S):
TrichoThioDystrophy Photosensitive (TTDP)
cerebro-oculo-facio-skeletal syndrome type 2 (COFS2)
xeroderma pigmentosum, complementation group D (XPD)


Amino acids sequence

        10         20         30         40         50         60
MKLNVDGLLV YFPYDYIYPE QFSYMRELKR TLDAKGHGVL EMPSGTGKTV SLLALIMAYQ
        70         80         90        100        110        120
RAYPLEVTKL IYCSRTVPEI EKVIEELRKL LNFYEKQEGE KLPFLGLALS SRKNLCIHPE
       130        140        150        160        170        180
VTPLRFGKDV DGKCHSLTAS YVRAQYQHDT SLPHCRFYEE FDAHGREVPL PAGIYNLDDL
       190        200        210        220        230        240
KALGRRQGWC PYFLARYSIL HANVVVYSYH YLLDPKIADL VSKELARKAV VVFDEAHNID
       250        260        270        280        290        300
NVCIDSMSVN LTRRTLDRCQ GNLETLQKTV LRIKETDEQR LRDEYRRLVE GLREASAARE
       310        320        330        340        350        360
TDAHLANPVL PDEVLQEAVP GSIRTAEHFL GFLRRLLEYV KWRLRVQHVV QESPPAFLSG
       370        380        390        400        410        420
LAQRVCIQRK PLRFCAERLR SLLHTLEITD LADFSPLTLL ANFATLVSTY AKGFTIIIEP
       430        440        450        460        470        480
FDDRTPTIAN PILHFSCMDA SLAIKPVFER FQSVIITSGT LSPLDIYPKI LDFHPVTMAT
       490        500        510        520        530        540
FTMTLARVCL CPMIIGRGND QVAISSKFET REDIAVIRNY GNLLLEMSAV VPDGIVAFFT
       550        560        570        580        590        600
SYQYMESTVA SWYEQGILEN IQRNKLLFIE TQDGAETSVA LEKYQEACEN GRGAILLSVA
       610        620        630        640        650        660
RGKVSEGIDF VHHYGRAVIM FGVPYVYTQS RILKARLEYL RDQFQIREND FLTFDAMRHA
       670        680        690        700        710        720
AQCVGRAIRG KTDYGLMVFA DKRFARGDKR GKLPRWIQEH LTDANLNLTV DEGVQVAKYF
       730        740        750        760
LRQMAQPFHR EDQLGLSLLS LEQLESEETL KRIEQIAQQL  

Encoded by ERCC2 gene

FULL NAME: excision repair cross-complementing rodent repair deficiency, complementation group 2


OTHER NAME(S):
COFS2
EM9
MGC102762
MGC126218
MGC126219
TTD
XPD


DESCRIPTION:
The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgaagctca acgtggacgg gctcctggtc tacttcccgt acgactacat ctaccccgag
        70         80         90        100        110        120
cagttctcct acatgcggga gctcaaacgc acgctggacg ccaagggtca tggagtcctg
       130        140        150        160        170        180
gagatgccct caggcaccgg gaagacagta tccctgttgg ccctgatcat ggcataccag
       190        200        210        220        230        240
agagcatatc cgctggaggt gaccaaactc atctactgct caagaactgt gccagagatt
       250        260        270        280        290        300
gagaaggtga ttgaagagct tcgaaagttg ctcaacttct atgagaagca ggagggcgag
       310        320        330        340        350        360
aagctgccgt ttctgggact ggctctgagc tcccgcaaaa acttgtgtat tcaccctgag
       370        380        390        400        410        420
gtgacacccc tgcgctttgg gaaggacgtc gatgggaaat gccacagcct cacagcctcc
       430        440        450        460        470        480
tatgtgcggg cgcagtacca gcatgacacc agcctgcccc actgccgatt ctatgaggaa
       490        500        510        520        530        540
tttgatgccc atgggcgtga ggtgcccctc cccgctggca tctacaacct ggatgacctg
       550        560        570        580        590        600
aaggccctgg ggcggcgcca gggctggtgc ccatacttcc ttgctcgata ctcaatcctg
       610        620        630        640        650        660
catgccaatg tggtggttta tagctaccac tacctcctgg accccaagat tgcagacctg
       670        680        690        700        710        720
gtgtccaagg aactggcccg caaggccgtc gtggtcttcg acgaggccca caacattgac
       730        740        750        760        770        780
aacgtctgca tcgactccat gagcgtcaac ctcacccgcc ggacccttga ccggtgccag
       790        800        810        820        830        840
ggcaacctgg agaccctgca gaagacggtg ctcaggatca aagagacaga cgagcagcgc
       850        860        870        880        890        900
ctgcgggacg agtaccggcg tctggtggag gggctgcggg aggccagcgc cgcccgggag
       910        920        930        940        950        960
acggacgccc acctggccaa ccccgtgctg cccgacgaag tgctgcagga ggcagtgcct
       970        980        990       1000       1010       1020
ggctccatcc gcacggccga gcatttcctg ggcttcctga ggcggctgct ggagtacgtg
      1030       1040       1050       1060       1070       1080
aagtggcggc tgcgtgtgca gcatgtggtg caggagagcc cgcccgcctt cctgagcggc
      1090       1100       1110       1120       1130       1140
ctggcccagc gcgtgtgcat ccagcgcaag cccctcagat tctgtgctga acgcctccgg
      1150       1160       1170       1180       1190       1200
tccctgctgc atactctgga gatcaccgac cttgctgact tctccccgct caccctcctt
      1210       1220       1230       1240       1250       1260
gctaactttg ccacccttgt cagcacctac gccaaaggct tcaccatcat catcgagccc
      1270       1280       1290       1300       1310       1320
tttgacgaca gaaccccgac cattgccaac cccatcctgc acttcagctg catggacgcc
      1330       1340       1350       1360       1370       1380
tcgctggcca tcaaacccgt atttgagcgt ttccagtctg tcatcatcac atctgggaca
      1390       1400       1410       1420       1430       1440
ctgtccccgc tggacatcta ccccaagatc ctggacttcc accccgtcac catggcaacc
      1450       1460       1470       1480       1490       1500
ttcaccatga cgctggcacg ggtctgcctc tgccctatga tcatcggccg tggcaatgac
      1510       1520       1530       1540       1550       1560
caggtggcca tcagctccaa atttgagacc cgggaggata ttgctgtgat ccggaactat
      1570       1580       1590       1600       1610       1620
gggaacctcc tgctggagat gtccgctgtg gtccctgatg gcatcgtggc cttcttcacc
      1630       1640       1650       1660       1670       1680
agctaccagt acatggagag caccgtggcc tcctggtatg agcaggggat ccttgagaac
      1690       1700       1710       1720       1730       1740
atccagagga acaagctgct ctttattgag acccaggatg gtgccgaaac cagtgtcgcc
      1750       1760       1770       1780       1790       1800
ctggagaagt accaggaggc ctgcgagaat ggccgcgggg ccatcctgct gtcagtggcc
      1810       1820       1830       1840       1850       1860
cggggcaaag tgtccgaggg aatcgacttt gtgcaccact acgggcgggc cgtcatcatg
      1870       1880       1890       1900       1910       1920
tttggcgtcc cctacgtcta cacacagagc cgcattctca aggcgcggct ggaatacctg
      1930       1940       1950       1960       1970       1980
cgggaccagt tccagattcg tgagaatgac tttcttacct tcgatgccat gcgccacgcg
      1990       2000       2010       2020       2030       2040
gcccagtgtg tgggtcgggc catcaggggc aagacggact acggcctcat ggtctttgcc
      2050       2060       2070       2080       2090       2100
gacaagcggt ttgcccgtgg ggacaagcgg gggaagctgc cccgctggat ccaggagcac
      2110       2120       2130       2140       2150       2160
ctcacagatg ccaacctcaa cctgaccgtg gacgagggtg tccaggtggc caagtacttc
      2170       2180       2190       2200       2210       2220
ctgcggcaga tggcacagcc cttccaccgg gaggatcagc tgggcctgtc cctgctcagc
      2230       2240       2250       2260       2270       2280
ctggagcagc tagaatcaga ggagacgctg aagaggatag agcagattgc tcagcagctc

tga     

Last modification date: Oct. 2, 2011