2024-03-29 20:31:37, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001130867 1753 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 2, mRNA. ACCESSION NM_001130867 VERSION NM_001130867.1 GI:195947406 KEYWORDS RefSeq. 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 1753) AUTHORS Dong,Y., Zhuang,L. and Ma,W. TITLE Comprehensive assessment of the association of ERCC2 Lys751Gln polymorphism with susceptibility to cutaneous melanoma JOURNAL Tumour Biol. 34 (2), 1155-1160 (2013) PUBMED 23494240 REMARK GeneRIF: ERCC2 Lys751Gln polymorphism is associated with susceptibility to cutaneous melanoma. REFERENCE 2 (bases 1 to 1753) AUTHORS Zhang,R.C. and Mou,S.H. TITLE Polymorphisms of excision repair gene XPD Lys751Gln and hOGG1 Ser326Cys might not be associated with hepatocellular carcinoma risk: a meta-analysis JOURNAL Tumour Biol. 34 (2), 901-907 (2013) PUBMED 23271362 REMARK GeneRIF: Polymorphisms of excision repair gene XPD Lys751Gln is not associated with hepatocellular carcinoma risk. REFERENCE 3 (bases 1 to 1753) AUTHORS Abdulrahman,W., Iltis,I., Radu,L., Braun,C., Maglott-Roth,A., Giraudon,C., Egly,J.M. and Poterszman,A. TITLE ARCH domain of XPD, an anchoring platform for CAK that conditions TFIIH DNA repair and transcription activities JOURNAL Proc. Natl. Acad. Sci. U.S.A. 110 (8), E633-E642 (2013) PUBMED 23382212 REMARK GeneRIF: results identify the ARCH domain of XPD as a platform for the recruitment of CAK and as a molecular switch that might control TFIIH composition and play a role in conversion of TFIIH from a factor active in transcription to a factor involved in DNA repair REFERENCE 4 (bases 1 to 1753) AUTHORS Yang,L.M., Li,X.H. and Bao,C.F. TITLE Glutathione S-transferase P1 and DNA polymorphisms influence response to chemotherapy and prognosis of bone tumors JOURNAL Asian Pac. J. Cancer Prev. 13 (11), 5883-5886 (2012) PUBMED 23317281 REMARK GeneRIF: ERCC2 polymorphisms influence response to chemotherapy in bone tumors REFERENCE 5 (bases 1 to 1753) AUTHORS Gan,Y., Li,X.R., Chen,D.J. and Wu,J.H. TITLE Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colorectal cancer in a Chinese population JOURNAL Asian Pac. J. Cancer Prev. 13 (11), 5721-5724 (2012) PUBMED 23317245 REMARK GeneRIF: Polymorphisms of XPD Lys751Gln are associated with colorectal cancer. REFERENCE 6 (bases 1 to 1753) AUTHORS Flejter,W.L., McDaniel,L.D., Johns,D., Friedberg,E.C. and Schultz,R.A. TITLE Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (1), 261-265 (1992) PUBMED 1729695 REFERENCE 7 (bases 1 to 1753) AUTHORS Jacob,G.A., Luse,S.W. and Luse,D.S. TITLE Abortive initiation is increased only for the weakest members of a set of down mutants of the adenovirus 2 major late promoter JOURNAL J. Biol. Chem. 266 (33), 22537-22544 (1991) PUBMED 1939271 REFERENCE 8 (bases 1 to 1753) AUTHORS Weber,C.A., Salazar,E.P., Stewart,S.A. and 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 REFERENCE 9 (bases 1 to 1753) AUTHORS Weber,C.A., Salazar,E.P., Stewart,S.A. and Thompson,L.H. TITLE Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells JOURNAL Mol. Cell. Biol. 8 (3), 1137-1146 (1988) PUBMED 2835663 REFERENCE 10 (bases 1 to 1753) AUTHORS Conaway,R.C. and Conaway,J.W. TITLE ATP activates transcription initiation from promoters by RNA polymerase II in a reversible step prior to RNA synthesis JOURNAL J. Biol. Chem. 263 (6), 2962-2968 (1988) PUBMED 2449431 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA409300.1, AL535248.3, BG719746.1, BT006883.1 and BC008346.1. Summary: 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]. Transcript Variant: This variant (2) has an additional segment in the 5' region, which results in a downstream AUG start codon, and lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus and a distinct and shorter C-terminus, as compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC008346.1, BT006883.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-52 DA409300.1 2-53 53-56 AL535248.3 14-17 57-422 BG719746.1 8-373 423-1639 BT006883.1 1-1217 1640-1753 BC008346.1 1437-1550 FEATURES Location/Qualifiers source 1..1753 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19q13.3" gene 1..1753 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /note="excision repair cross-complementing rodent repair deficiency, complementation group 2" /db_xref="GeneID:2068" /db_xref="HGNC:3434" /db_xref="MIM:126340" exon 1..455 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" STS 20..962 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /standard_name="GDB:364012" /db_xref="UniSTS:156797" variation 74..75 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /replace="" /replace="g" /db_xref="dbSNP:3916792" variation 97 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /replace="a" /replace="g" /db_xref="dbSNP:3826908" variation 160 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /replace="a" /replace="g" /db_xref="dbSNP:3916793" misc_feature 231..233 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /note="upstream in-frame stop codon" variation 422 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /replace="c" /replace="t" /db_xref="dbSNP:41549115" CDS 423..1640 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /EC_number="3.6.4.12" /note="isoform 2 is encoded by transcript variant 2; xeroderma pigmentosum complementary group D; TFIIH basal transcription factor complex helicase subunit; TFIIH basal transcription factor complex helicase XPD subunit; xeroderma pigmentosum group D-complementing protein; TFIIH basal transcription factor complex 80 kDa subunit; CXPD; BTF2 p80; TFIIH p80; TFIIH 80 kDa subunit; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; basic transcription factor 2 80 kDa subunit" /codon_start=1 /product="TFIIH basal transcription factor complex helicase XPD subunit isoform 2" /protein_id="NP_001124339.1" /db_xref="GI:195947407" /db_xref="CCDS:CCDS46112.1" /db_xref="GeneID:2068" /db_xref="HGNC:3434" /db_xref="MIM:126340" /translation="
MRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGQAQHCGSSRNQKRSHP
" misc_feature 423..1190 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /note="DEAD-like helicases superfamily; Region: DEXDc2; smart00488" /db_xref="CDD:128764" misc_feature 564..1118 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /note="DEAD_2; Region: DEAD_2; pfam06733" /db_xref="CDD:191597" misc_feature 1152..1589 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /note="Protein of unknown function (DUF1227); Region: DUF1227; pfam06777" /db_xref="CDD:191608" exon 456..533 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" exon 534..596 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" exon 597..710 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" STS 674..1357 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /standard_name="GDB:364015" /db_xref="UniSTS:156798" exon 711..827 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" exon 828..944 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" exon 945..1068 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" variation 947 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /replace="c" /replace="g" /db_xref="dbSNP:1799791" variation 951 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /replace="c" /replace="t" /db_xref="dbSNP:1799792" exon 1069..1165 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" exon 1166..1299 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" variation 1284 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /replace="a" /replace="g" /db_xref="dbSNP:1799793" exon 1300..1468 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" exon 1469..1587 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" exon 1588..1741 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /inference="alignment:Splign:1.39.8" polyA_signal 1693..1698 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" variation 1731 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:3916842" variation 1736 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" /replace="a" /replace="g" /db_xref="dbSNP:3916843" polyA_site 1741 /gene="ERCC2" /gene_synonym="COFS2; EM9; TTD; XPD" ORIGIN
ttcatgagggaggcgggtcgaccccgctgcacagtccggccggcgccatgaagtgagaagggggctgggggtcgcgctcgctagcgggcgcggggggtcttgaagatggggtcatcggtgggcgcgcctgggtccccaagggggcgaggggagggtgaaggggtgggacgggggcagccgcagggagcagcagtgatagcgaggagacactgagggggccccgaggctcctgaggacctgagggttaccgggggcgccgggcccgtcacccttctctgggctcgacgaccgggcactgtggaggcgggagaggggctgaggggacgggaactgacccagcagcccctgccgccaggctcaacgtggacgggctcctggtctacttcccgtacgactacatctaccccgagcagttctcctacatgcgggagctcaaacgcacgctggacgccaagggtcatggagtcctggagatgccctcaggcaccgggaagacagtatccctgttggccctgatcatggcataccagagagcatatccgctggaggtgaccaaactcatctactgctcaagaactgtgccagagattgagaaggtgattgaagagcttcgaaagttgctcaacttctatgagaagcaggagggcgagaagctgccgtttctgggactggctctgagctcccgcaaaaacttgtgtattcaccctgaggtgacacccctgcgctttgggaaggacgtcgatgggaaatgccacagcctcacagcctcctatgtgcgggcgcagtaccagcatgacaccagcctgccccactgccgattctatgaggaatttgatgcccatgggcgtgaggtgcccctccccgctggcatctacaacctggatgacctgaaggccctggggcggcgccagggctggtgcccatacttccttgctcgatactcaatcctgcatgccaatgtggtggtttatagctaccactacctcctggaccccaagattgcagacctggtgtccaaggaactggcccgcaaggccgtcgtggtcttcgacgaggcccacaacattgacaacgtctgcatcgactccatgagcgtcaacctcacccgccggacccttgaccggtgccagggcaacctggagaccctgcagaagacggtgctcaggatcaaagagacagacgagcagcgcctgcgggacgagtaccggcgtctggtggaggggctgcgggaggccagcgccgcccgggagacggacgcccacctggccaaccccgtgctgcccgacgaagtgctgcaggaggcagtgcctggctccatccgcacggccgagcatttcctgggcttcctgaggcggctgctggagtacgtgaagtggcggctgcgtgtgcagcatgtggtgcaggagagcccgcccgccttcctgagcggcctggcccagcgcgtgtgcatccagcgcaagcccctcagattctgtgctgaacgcctccggtccctgctgcatactctggagatcaccgaccttgctgacttctccccgctcaccctccttgctaactttgccacccttgtcagcacctacgccaaaggccaggctcagcactgtggaagcagcaggaaccaaaaaagatctcatccctaaccccccagaacttatattccagatgggaaaaccagtagcaaagatgcagccaaataaacaaggaaataattccagaaagtgacagttatcatgaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:2068 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA GeneID:2068 -> Molecular function: GO:0004003 [ATP-dependent DNA helicase activity] evidence: IEA GeneID:2068 -> Molecular function: GO:0004672 [protein kinase activity] evidence: IDA GeneID:2068 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:2068 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA GeneID:2068 -> Molecular function: GO:0008022 [protein C-terminus binding] evidence: IPI GeneID:2068 -> Molecular function: GO:0008094 [DNA-dependent ATPase activity] evidence: IDA GeneID:2068 -> Molecular function: GO:0008094 [DNA-dependent ATPase activity] evidence: TAS GeneID:2068 -> Molecular function: GO:0008353 [RNA polymerase II carboxy-terminal domain kinase activity] evidence: IDA GeneID:2068 -> Molecular function: GO:0043139 [5'-3' DNA helicase activity] evidence: IDA GeneID:2068 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA GeneID:2068 -> Molecular function: GO:0047485 [protein N-terminus binding] evidence: IPI GeneID:2068 -> Molecular function: GO:0051539 [4 iron, 4 sulfur cluster binding] evidence: IEA GeneID:2068 -> Biological process: GO:0000075 [cell cycle checkpoint] evidence: IMP GeneID:2068 -> Biological process: GO:0000718 [nucleotide-excision repair, DNA damage removal] evidence: TAS GeneID:2068 -> Biological process: GO:0001666 [response to hypoxia] evidence: IEA GeneID:2068 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA GeneID:2068 -> Biological process: GO:0006281 [DNA repair] evidence: TAS GeneID:2068 -> Biological process: GO:0006283 [transcription-coupled nucleotide-excision repair] evidence: IDA GeneID:2068 -> Biological process: GO:0006283 [transcription-coupled nucleotide-excision repair] evidence: TAS GeneID:2068 -> Biological process: GO:0006289 [nucleotide-excision repair] evidence: IGI GeneID:2068 -> Biological process: GO:0006289 [nucleotide-excision repair] evidence: NAS GeneID:2068 -> Biological process: GO:0006289 [nucleotide-excision repair] evidence: TAS GeneID:2068 -> Biological process: GO:0006360 [transcription from RNA polymerase I promoter] evidence: TAS GeneID:2068 -> Biological process: GO:0006361 [transcription initiation from RNA polymerase I promoter] evidence: TAS GeneID:2068 -> Biological process: GO:0006362 [transcription elongation from RNA polymerase I promoter] evidence: TAS GeneID:2068 -> Biological process: GO:0006363 [termination of RNA polymerase I transcription] evidence: TAS GeneID:2068 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: IDA GeneID:2068 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS GeneID:2068 -> Biological process: GO:0006367 [transcription initiation from RNA polymerase II promoter] evidence: TAS GeneID:2068 -> Biological process: GO:0006368 [transcription elongation from RNA polymerase II promoter] evidence: TAS GeneID:2068 -> Biological process: GO:0006370 [7-methylguanosine mRNA capping] evidence: TAS GeneID:2068 -> Biological process: GO:0006468 [protein phosphorylation] evidence: IDA GeneID:2068 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:2068 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IMP GeneID:2068 -> Biological process: GO:0006979 [response to oxidative stress] evidence: IMP GeneID:2068 -> Biological process: GO:0007059 [chromosome segregation] evidence: IMP GeneID:2068 -> Biological process: GO:0007568 [aging] evidence: IEA GeneID:2068 -> Biological process: GO:0008283 [cell proliferation] evidence: IEA GeneID:2068 -> Biological process: GO:0009650 [UV protection] evidence: IGI GeneID:2068 -> Biological process: GO:0009791 [post-embryonic development] evidence: IEA GeneID:2068 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:2068 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:2068 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA GeneID:2068 -> Biological process: GO:0021510 [spinal cord development] evidence: IEA GeneID:2068 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: IEA GeneID:2068 -> Biological process: GO:0030282 [bone mineralization] evidence: IEA GeneID:2068 -> Biological process: GO:0032289 [central nervous system myelin formation] evidence: IEA GeneID:2068 -> Biological process: GO:0033683 [nucleotide-excision repair, DNA incision] evidence: IMP GeneID:2068 -> Biological process: GO:0035264 [multicellular organism growth] evidence: IEA GeneID:2068 -> Biological process: GO:0035315 [hair cell differentiation] evidence: IMP GeneID:2068 -> Biological process: GO:0040016 [embryonic cleavage] evidence: IEA GeneID:2068 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IEA GeneID:2068 -> Biological process: GO:0043249 [erythrocyte maturation] evidence: IEA GeneID:2068 -> Biological process: GO:0043388 [positive regulation of DNA binding] evidence: IEA GeneID:2068 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:2068 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA GeneID:2068 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA GeneID:2068 -> Biological process: GO:0048820 [hair follicle maturation] evidence: IEA GeneID:2068 -> Biological process: GO:0050434 [positive regulation of viral transcription] evidence: TAS GeneID:2068 -> Biological process: GO:0060218 [hematopoietic stem cell differentiation] evidence: IEA GeneID:2068 -> Cellular component: GO:0000441 [SSL2-core TFIIH complex] evidence: IEA GeneID:2068 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:2068 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:2068 -> Cellular component: GO:0005675 [holo TFIIH complex] evidence: IDA GeneID:2068 -> Cellular component: GO:0005675 [holo TFIIH complex] evidence: TAS GeneID:2068 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:2068 -> Cellular component: GO:0005819 [spindle] evidence: IDA GeneID:2068 -> Cellular component: GO:0019907 [cyclin-dependent protein kinase activating kinase holoenzyme complex] evidence: IDA GeneID:2068 -> Cellular component: GO:0071817 [MMXD complex] evidence: IDA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001124339 -> EC 3.6.4.12
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