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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
//

Annotations:

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

by @meso_cacase at DBCLS
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