LOCUS X52221 2872 bp mRNA linear HUM 23-OCT-2008
DEFINITION H.sapiens ERCC2 gene, exons 1 & 2 (partial).
ACCESSION X52221 X52470
VERSION X52221.1
KEYWORDS ATP-binding protein; DNA repair; DNA-binding protein; ERCC2 gene;
excision repair gene.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2872)
AUTHORS Weber C.A.
JOURNAL Submitted (27-FEB-1990) to the INSDC. Weber C.A., Lawrence
Livermore National Laboratory, Biomedical Sciences Division L452, P
O Box 5507, Livermore Ca 94551, USA.
REFERENCE 2 (bases 1 to 2872)
AUTHORS Weber C.A., Salazar E.P., Stewart S.A., Thompson L.H.
TITLE ERCC2: cDNA cloning and molecular characterization of a human
nucleotide excision repair gene with high homology to yeast RAD3
JOURNAL EMBO J. 9(5), 1437-1447(1990).
PUBMED 2184031
COMMENT Note sequence is compiled from both genomic and cDNA sources.
Position 1-442 is derived mainly from genomic clones and sequence
443-2872 is derived from cDNA clones.
See <X52222> for 3'end of ERCC2.
FEATURES Location/Qualifiers
source 1..2872
/db_xref="H-InvDB:HIT000321738"
/organism="Homo sapiens"
/chromosome="19q13.2-q13.3"
/mol_type="mRNA"
/dev_stage="adult"
/clone_lib="pcD2"
/clone="pER2-14"
/cell_line="GM637"
/cell_type="fibroblast"
/db_xref="taxon:9606"
misc_feature 100..133
/note="pyrimidine-rich region"
regulatory 191..196
/regulatory_class="GC_signal"
repeat_region 208..212
/rpt_type=INVERTED
/note="inverted repeat A"
repeat_region 215..219
/rpt_type=INVERTED
/note="inverted repeat A'"
regulatory 245..253
/regulatory_class="CAAT_signal"
regulatory 276..282
/regulatory_class="TATA_box"
mRNA join(301..383,687..>2872)
prim_transcript 301..2872
exon 301..383
/number=1
misc_feature 328..359
/note="minisatellite DNA"
CDS join(379..383,687..>2872)
/product="ercc2 gene product"
/db_xref="GOA:P18074"
/db_xref="H-InvDB:HIT000321738.13"
/db_xref="HGNC:HGNC:3434"
/db_xref="InterPro:IPR001945"
/db_xref="InterPro:IPR002464"
/db_xref="InterPro:IPR006554"
/db_xref="InterPro:IPR006555"
/db_xref="InterPro:IPR010614"
/db_xref="InterPro:IPR010643"
/db_xref="InterPro:IPR013020"
/db_xref="InterPro:IPR014013"
/db_xref="InterPro:IPR027417"
/db_xref="PDB:5IVW"
/db_xref="PDB:5IY6"
/db_xref="PDB:5IY7"
/db_xref="PDB:5IY8"
/db_xref="PDB:5IY9"
/db_xref="PDB:5OF4"
/db_xref="PDB:6NMI"
/db_xref="PDB:6O9L"
/db_xref="PDB:6O9M"
/db_xref="PDB:6RO4"
/db_xref="UniProtKB/Swiss-Prot:P18074"
/protein_id="CAA36463.1"
/translation="MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPS
GTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKL
PFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEE
FDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIA
DLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKET
DEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLR
RLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLA
DFSPLTLLANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFER
FQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISSKF
ETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKL
LFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVP
YVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADK
RFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHR"
misc_feature 383..409
/note="partial minisatellite DNA"
intron 384..686
/number=1
misc_feature 414..436
/note="partial minisatellite DNA"
misc_feature 626..663
/note="minisatellite DNA"
misc_feature 664..693
/note="minisatellite DNA"
exon 687..>2872
/number=2
BASE COUNT 560 a 888 c 871 g 553 t
ORIGIN
1 gctatcttgc tcaagctgat ctcgaactcc tgggttcgat caatactcag acaatcttgg
61 caggcgcagg aggaccaaat tctagtgaat gagatcgagt ctctcggctc tttcccttcc
121 atgttttctt tttgattggc cctcgacgat cctcagtgac gcctcccgca ccgcctcacc
181 cgagagtcag ccgccctcgc ttttccgtgc gcacgcgcag tatcccgatt ggctctgccc
241 tagcggattg acgggcaggt tagccaatgg tctcgtaata taggtggagc gagccctcga
301 ggatgtccac gacccggcct ctcgctgaat attcatgagg gaggcgggtc gaccccgctg
361 cacagtccgg ccggcgccat gaagtgagaa gggggctggg ggtcgcgctc gctagcgggc
421 gcggggggtc ttgaagatgg ggtcatcggt gggcgcgcct gggtccccaa gggggcgagg
481 ggagggtgaa ggggtgggac gggggcagcc gcagggagca gcagtgatag cgaggagaca
541 ctgagggggc cccgaggctc ctgaggacct gagggttacc gggggcgccg ggcccgtcac
601 ccttctctgg gctcgacgac cgggcactgt ggaggcggga gaggggctga ggggacggga
661 actgacccag cagcccctgc cgccaggctc aacgtggacg ggctcctggt ctacttcccg
721 tacgactaca tctaccccga gcagttctcc tacatgcggg agctcaaacg cacgctggac
781 gccaagggtc atggagtcct ggagatgccc tcaggcaccg ggaagacagt atccctgttg
841 gccctgatca tggcatacca gagagcatat ccgctggagg tgaccaaact catctactgc
901 tcaagaactg tgccagagat tgagaaggtg attgaagagc ttcgaaagtt gctcaacttc
961 tatgagaagc aggagggcga gaagctgccg tttctgggac tggctctgag ctcccgcaaa
1021 aacttgtgta ttcaccctga ggtgacaccc ctgcgctttg ggaaggacgt cgatgggaaa
1081 tgccacagcc tcacagcctc ctatgtgcgg gcgcagtacc agcatgacac cagcctgccc
1141 cactgccgat tctatgagga atttgatgcc catgggcgtg aggtgcccct ccccgctggc
1201 atctacaacc tggatgacct gaaggccctg gggcggcgcc agggctggtg cccatacttc
1261 cttgctcgat actcaatcct gcatgccaat gtggtggttt atagctacca ctacctcctg
1321 gaccccaaga ttgcagacct ggtgtccaag gaactggccc gcaaggccgt cgtggtcttc
1381 gacgaggccc acaacattga caacgtctgc atcgactcca tgagcgtcaa cctcacccgc
1441 cggacccttg accggtgcca gggcaacctg gagaccctgc agaagacggt gctcaggatc
1501 aaagagacag acgagcagcg cctgcgggac gagtaccggc gtctggtgga ggggctgcgg
1561 gaggccagcg ccgcccggga gacggacgcc cacctggcca accccgtgct gcccgacgaa
1621 gtgctgcagg aggcagtgcc tggctccatc cgcacggccg agcatttcct gggcttcctg
1681 aggcggctgc tggagtacgt gaagtggcgg ctgcgtgtgc agcatgtggt gcaggagagc
1741 ccgcccgcct tcctgagcgg cctggcccag cgcgtgtgca tccagcgcaa gcccctcaga
1801 ttctgtgctg aacgcctccg gtccctgctg catactctgg agatcaccga ccttgctgac
1861 ttctccccgc tcaccctcct tgctaacttt gccacccttg tcagcaccta cgccaaaggc
1921 ttcaccatca tcatcgagcc ctttgacgac agaaccccga ccattgccaa ccccatcctg
1981 cacttcagct gcatggacgc ctcgctggcc atcaaacccg tatttgagcg tttccagtct
2041 gtcatcatca catctgggac actgtccccg ctggacatct accccaagat cctggacttc
2101 caccccgtca ccatggcaac cttcaccatg acgctggcac gggtctgcct ctgccctatg
2161 atcatcggcc gtggcaatga ccaggtggcc atcagctcca aatttgagac ccgggaggat
2221 attgctgtga tccggaacta tgggaacctc ctgctggaga tgtccgctgt ggtccctgat
2281 ggcatcgtgg ccttcttcac cagctaccag tacatggaga gcaccgtggc ctcctggtat
2341 gagcagggga tccttgagaa catccagagg aacaagctgc tctttattga gacccaggat
2401 ggtgccgaaa ccagtgtcgc cctggagaag taccaggagg cctgcgagaa tggccgcggg
2461 gccatcctgc tgtcagtggc ccggggcaaa gtgtccgagg gaatcgactt tgtgcaccac
2521 tacgggcggg ccgtcatcat gtttggcgtc ccctacgtct acacacagag ccgcattctc
2581 aaggcgcggc tggaatacct gcgggaccag ttccagattc gtgagaatga ctttcttacc
2641 ttcgatgcca tgcgccacgc ggcccagtgt gtgggtcggg ccatcagggg caagacggac
2701 tacggcctca tggtctttgc cgacaagcgg tttgcccgtg gggacaagcg ggggaagctg
2761 ccccgctgga tccaggagca cctcacagat gccaacctca acctgaccgt ggacgagggt
2821 gtccaggtgg ccaagtactt cctgcggcag atggcacagc ccttccaccg gg
//