2024-03-28 19:58:37, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004629 2649 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA. ACCESSION NM_004629 VERSION NM_004629.1 GI:4759335 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 2649) AUTHORS Tsai,Y.S., Lin,C.S., Chiang,S.L., Lee,C.H., Lee,K.W. and Ko,Y.C. TITLE Areca nut induces miR-23a and inhibits repair of DNA double-strand breaks by targeting FANCG JOURNAL Toxicol. Sci. 123 (2), 480-490 (2011) PUBMED 21750350 REMARK GeneRIF: Areca nut extracts-induced miR-23a was correlated with a reduced FANCG expression and DSB repair, which might contribute to ANE-associated human malignancies. REFERENCE 2 (bases 1 to 2649) AUTHORS Monsees,G.M., Kraft,P., Chanock,S.J., Hunter,D.J. and Han,J. TITLE Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk JOURNAL Breast Cancer Res. Treat. 125 (1), 207-214 (2011) PUBMED 20496165 REMARK GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) REFERENCE 3 (bases 1 to 2649) AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. CONSRTM DREAM investigators TITLE Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study JOURNAL Diabetes Care 33 (10), 2250-2253 (2010) PUBMED 20628086 REMARK GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 4 (bases 1 to 2649) AUTHORS Wang,C. and Lambert,M.W. TITLE The Fanconi anemia protein, FANCG, binds to the ERCC1-XPF endonuclease via its tetratricopeptide repeats and the central domain of ERCC1 JOURNAL Biochemistry 49 (26), 5560-5569 (2010) PUBMED 20518486 REMARK GeneRIF: sites of interaction of FANCG with ERCC1, which is different from the region of ERCC1 that binds to XPF REFERENCE 5 (bases 1 to 2649) AUTHORS Lipkin,S.M., Chao,E.C., Moreno,V., Rozek,L.S., Rennert,H., Pinchev,M., Dizon,D., Rennert,G., Kopelovich,L. and Gruber,S.B. TITLE Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer JOURNAL Cancer Prev Res (Phila) 3 (5), 597-603 (2010) PUBMED 20403997 REMARK GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 6 (bases 1 to 2649) AUTHORS Jelesko,J.G., Harper,R., Furuya,M. and Gruissem,W. TITLE Rare germinal unequal crossing-over leading to recombinant gene formation and gene duplication in Arabidopsis thaliana JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (18), 10302-10307 (1999) PUBMED 10468603 REFERENCE 7 (bases 1 to 2649) AUTHORS Garcia-Higuera,I., Kuang,Y., Naf,D., Wasik,J. and D'Andrea,A.D. TITLE Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex JOURNAL Mol. Cell. Biol. 19 (7), 4866-4873 (1999) PUBMED 10373536 REFERENCE 8 (bases 1 to 2649) AUTHORS de Winter,J.P., Waisfisz,Q., Rooimans,M.A., van Berkel,C.G., Bosnoyan-Collins,L., Alon,N., Carreau,M., Bender,O., Demuth,I., Schindler,D., Pronk,J.C., Arwert,F., Hoehn,H., Digweed,M., Buchwald,M. and Joenje,H. TITLE The Fanconi anaemia group G gene FANCG is identical with XRCC9 JOURNAL Nat. Genet. 20 (3), 281-283 (1998) PUBMED 9806548 REFERENCE 9 (bases 1 to 2649) AUTHORS Joenje,H., Oostra,A.B., Wijker,M., di Summa,F.M., van Berkel,C.G., Rooimans,M.A., Ebell,W., van Weel,M., Pronk,J.C., Buchwald,M. and Arwert,F. TITLE Evidence for at least eight Fanconi anemia genes JOURNAL Am. J. Hum. Genet. 61 (4), 940-944 (1997) PUBMED 9382107 REFERENCE 10 (bases 1 to 2649) AUTHORS Liu,N., Lamerdin,J.E., Tucker,J.D., Zhou,Z.Q., Walter,C.A., Albala,J.S., Busch,D.B. and Thompson,L.H. TITLE The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells JOURNAL Proc. Natl. Acad. Sci. U.S.A. 94 (17), 9232-9237 (1997) PUBMED 9256465 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AJ007669.1. This sequence is a reference standard in the RefSeqGene project. Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]. 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 :: AJ007669.1, BC011623.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. FEATURES Location/Qualifiers source 1..2649 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p13" gene 1..2649 /gene="FANCG" /gene_synonym="FAG; XRCC9" /note="Fanconi anemia, complementation group G" /db_xref="GeneID:2189" /db_xref="HGNC:3588" /db_xref="HPRD:04262" /db_xref="MIM:602956" exon 1..576 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" variation 40..41 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="" /replace="t" /db_xref="dbSNP:16935545" misc_feature 454..456 /gene="FANCG" /gene_synonym="FAG; XRCC9" /note="upstream in-frame stop codon" CDS 493..2361 /gene="FANCG" /gene_synonym="FAG; XRCC9" /note="DNA repair protein XRCC9; X-ray repair, complementing defective, in Chinese hamster, 9; X-ray repair complementing defective repair in Chinese hamster cells 9" /codon_start=1 /product="Fanconi anemia group G protein" /protein_id="NP_004620.1" /db_xref="GI:4759336" /db_xref="CCDS:CCDS6574.1" /db_xref="GeneID:2189" /db_xref="HGNC:3588" /db_xref="HPRD:04262" /db_xref="MIM:602956" /translation="
MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGLPAAVPVLPLELTVTCNFIILRASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRELWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLALLLETLNGSQSGASKDLLLLLKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLCPRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAELESLELLVEALNVPCSSKAPQFLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRAGDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEAAVALIQAGRAQDALTLCEELLSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCLELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLSVQMCPGNRDTYFHLLQTLKRLDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWIRPSDRDAFLEEFRTSLPKSCDL
" misc_feature 511..513 /gene="FANCG" /gene_synonym="FAG; XRCC9" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (O15287.1); phosphorylation site" misc_feature 1228..1329 /gene="FANCG" /gene_synonym="FAG; XRCC9" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O15287.1); Region: TPR 1" misc_feature 1522..1623 /gene="FANCG" /gene_synonym="FAG; XRCC9" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O15287.1); Region: TPR 2" misc_feature 1639..1641 /gene="FANCG" /gene_synonym="FAG; XRCC9" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1651..1653 /gene="FANCG" /gene_synonym="FAG; XRCC9" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:00302" misc_feature 1849..1950 /gene="FANCG" /gene_synonym="FAG; XRCC9" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O15287.1); Region: TPR 3" misc_feature 2032..2133 /gene="FANCG" /gene_synonym="FAG; XRCC9" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O15287.1); Region: TPR 4" variation 512 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="c" /replace="t" /db_xref="dbSNP:35984312" exon 577..667 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" exon 668..799 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" variation 682 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:34821298" exon 800..1002 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" exon 1003..1138 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" exon 1139..1269 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" variation 1239 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="c" /replace="t" /db_xref="dbSNP:1043957" exon 1270..1416 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" variation 1373 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="a" /replace="g" /db_xref="dbSNP:17880082" exon 1417..1568 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" variation 1480 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="c" /replace="t" /db_xref="dbSNP:4986940" exon 1569..1635 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" exon 1636..1925 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" variation 1780 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="a" /replace="g" /db_xref="dbSNP:17881054" variation 1824 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="a" /replace="c" /db_xref="dbSNP:200456325" exon 1926..1972 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" exon 1973..2128 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" variation 2030 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="a" /replace="g" /db_xref="dbSNP:17885240" exon 2129..2252 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" variation 2130 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="c" /replace="t" /db_xref="dbSNP:45537335" exon 2253..2631 /gene="FANCG" /gene_synonym="FAG; XRCC9" /inference="alignment:Splign:1.39.8" variation 2300 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="c" /replace="t" /db_xref="dbSNP:17878854" STS 2343..2531 /gene="FANCG" /gene_synonym="FAG; XRCC9" /standard_name="A002I21" /db_xref="UniSTS:346" STS 2346..2499 /gene="FANCG" /gene_synonym="FAG; XRCC9" /standard_name="RH15902" /db_xref="UniSTS:24168" variation 2612 /gene="FANCG" /gene_synonym="FAG; XRCC9" /replace="a" /replace="g" /db_xref="dbSNP:17878564" polyA_signal 2613..2618 /gene="FANCG" /gene_synonym="FAG; XRCC9" polyA_site 2631 /gene="FANCG" /gene_synonym="FAG; XRCC9" ORIGIN
aggaggacctgggggtgtggcagcgaggaagggccgagccacggactgtggggccgaaactcgctcccgcccaccctttctcgaggctgtggcctccgcgagagccgagcgggccgcaccgccggccgtgcgactgccccagtcagacacgaccccggcttctagcccgcctaagcctgtttggggttgctgactcgtttcctccccgagtttcccgcgggaactaactcttcaagaggaccaaccgcagcccagagcttcgcagacccggccaaccagaggcgaggttgagagcccggcgggccgcggggagagagcgtcccatctgtcctggaaagcctgggcgggtggattgggaccccgagagaagcaggggagctcggcggggtgcagaagtgcccaggcccctccccgctggggttgggagcttgggcaggccagcttcacccttcctaagtccgcttctggtctccgggcccagcctcggccaccatgtcccgccagaccacctctgtgggctccagctgcctggacctgtggagggaaaagaatgaccggctcgttcgacaggccaaggtggctcagaactccggtctgactctgaggcgacagcagttggctcaggatgcactggaagggctcagagggctcctccatagtctgcaagggctccctgcagctgttcctgttcttcccttggagctgactgtcacctgcaacttcattatcctgagggcaagcttggcccagggtttcacagaggatcaggcccaggatatccagcggagcctagagagagtgctggagacacaggagcagcaggggcccaggttggaacaggggctcagggagctgtgggactctgtccttcgtgcttcctgccttctgccggagctgctgtctgccctgcaccgcctggttggcctgcaggctgccctctggttgagtgctgaccgtcttggggacctggccttgttactagagaccctgaatggcagccagagtggagcctctaaggatctgctgttacttctgaaaacttggagtcccccagctgaggaattagatgctccattgaccctgcaggatgcccagggattgaaggatgtcctcctgacagcatttgcctaccgccaaggtctccaggagctgatcacagggaacccagacaaggcactaagcagccttcatgaagcggcctcaggcctgtgtccacggcctgtgttggtccaggtgtacacagcactggggtcctgtcaccgtaagatgggaaatccacagagagcactgttgtacttggttgcagccctgaaagagggatcagcctggggtcctccacttctggaggcctctaggctctatcagcaactgggggacacaacagcagagctggagagtctggagctgctagttgaggccttgaatgtcccatgcagttccaaagccccgcagtttctcattgaggtagaattactactgccaccacctgacctagcctcaccccttcattgtggcactcagagccagaccaagcacatactagcaagcaggtgcctacagacggggagggcaggagacgctgcagagcattacttggacctgctggccctgttgctggatagctcggagccaaggttctccccacccccctcccctccagggccctgtatgcctgaggtgtttttggaggcagcggtagcactgatccaggcaggcagagcccaagatgccttgactctatgtgaggagttgctcagccgcacatcatctctgctacccaagatgtcccggctgtgggaagatgccagaaaaggaaccaaggaactgccatactgcccactctgggtctctgccacccacctgcttcagggccaggcctgggttcaactgggtgcccaaaaagtggcaattagtgaatttagcaggtgcctcgagctgctcttccgggccacacctgaggaaaaagaacaaggggcagctttcaactgtgagcagggatgtaagtcagatgcggcactgcagcagcttcgggcagccgccctaattagtcgtggactggaatgggtagccagcggccaggataccaaagccttacaggacttcctcctcagtgtgcagatgtgcccaggtaatcgagacacttactttcacctgcttcagactctgaagaggctagatcggagggatgaggccactgcactctggtggaggctggaggcccaaactaaggggtcacatgaagatgctctgtggtctctccccctgtacctagaaagctatttgagctggatccgtccctctgatcgtgacgccttccttgaagaatttcggacatctctgccaaagtcttgtgacctgtagctgccacgttttgaagagcttgagctgggtccccagtgggctgtctctctgtggggagggctttctgcttcaccatcattaggaatgtgaccattcctatataattcctggactggtgagattggtggtaggcctgtgaaatttgccctagttactaccattctcgttttggaggaaacaatctctgccaccaccaagtcattgactttgctcgaggcaccttttttcctgtttctccttttctgttgtcgagtaaaatttcatatttataaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:2189 -> Molecular function: GO:0003684 [damaged DNA binding] evidence: TAS GeneID:2189 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:2189 -> Biological process: GO:0000075 [cell cycle checkpoint] evidence: TAS GeneID:2189 -> Biological process: GO:0001541 [ovarian follicle development] evidence: IEA GeneID:2189 -> Biological process: GO:0006281 [DNA repair] evidence: TAS GeneID:2189 -> Biological process: GO:0007005 [mitochondrion organization] evidence: IMP GeneID:2189 -> Biological process: GO:0007286 [spermatid development] evidence: IEA GeneID:2189 -> Biological process: GO:0009314 [response to radiation] evidence: IEA GeneID:2189 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:2189 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA GeneID:2189 -> Cellular component: GO:0043240 [Fanconi anaemia nuclear complex] evidence: IDA
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