FANCG_HUMAN
ID FANCG_HUMAN Reviewed; 622 AA.
AC O15287;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 03-AUG-2022, entry version 206.
DE RecName: Full=Fanconi anemia group G protein;
DE Short=Protein FACG;
DE AltName: Full=DNA repair protein XRCC9;
GN Name=FANCG; Synonyms=XRCC9;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=9256465; DOI=10.1073/pnas.94.17.9232;
RA Liu N., Lamerdin J.E., Tucker J.D., Zhou Z.-Q., Walter C.A., Albala J.S.,
RA Busch D.B., Thompson L.H.;
RT "The human XRCC9 gene corrects chromosomal instability and mutagen
RT sensitivities in CHO UV40 cells.";
RL Proc. Natl. Acad. Sci. U.S.A. 94:9232-9237(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
RX PubMed=9806548; DOI=10.1038/3093;
RA De Winter J.P., Waisfisz Q., Rooimans M.A., Van Berkel C.G.M.,
RA Bosnoyan-Collins L., Alon N., Carreau M., Bender O., Demuth I.,
RA Schindler D., Pronk J.C., Arwert F., Hoehn H., Digweed M., Buchwald M.,
RA Joenje H.;
RT "The Fanconi anaemia group G gene FANCG is identical with XRCC9.";
RL Nat. Genet. 20:281-283(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLU-294; ILE-297; SER-330;
RP LEU-378; GLU-430; GLN-513 AND PHE-603.
RG NIEHS SNPs program;
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Kidney, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP CHARACTERIZATION.
RX PubMed=10373536; DOI=10.1128/mcb.19.7.4866;
RA Garcia-Higuera I., Kuang Y., Naf D., Wasik J., D'Andrea A.D.;
RT "Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a
RT functional nuclear complex.";
RL Mol. Cell. Biol. 19:4866-4873(1999).
RN [7]
RP IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF AND FANCL.
RX PubMed=12724401; DOI=10.1128/mcb.23.10.3417-3426.2003;
RA Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H.,
RA Hoatlin M.E., Wang W.;
RT "A multiprotein nuclear complex connects Fanconi anemia and Bloom
RT syndrome.";
RL Mol. Cell. Biol. 23:3417-3426(2003).
RN [8]
RP IDENTIFICATION IN A COMPLEX WITH EIF2AK2; FANCA; FANCC AND HSP70.
RX PubMed=15299030; DOI=10.1074/jbc.m403884200;
RA Zhang X., Li J., Sejas D.P., Rathbun K.R., Bagby G.C., Pang Q.;
RT "The Fanconi anemia proteins functionally interact with the protein kinase
RT regulated by RNA (PKR).";
RL J. Biol. Chem. 279:43910-43919(2004).
RN [9]
RP IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF AND
RP FANCL.
RX PubMed=15502827; DOI=10.1038/ng1458;
RA Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C.,
RA Rooimans M.A., Bier P., Hoatlin M., Pals G., de Winter J.P., Wang W.,
RA Joenje H.;
RT "X-linked inheritance of Fanconi anemia complementation group B.";
RL Nat. Genet. 36:1219-1224(2004).
RN [10]
RP IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF; FANCL
RP AND FANCM.
RX PubMed=16116422; DOI=10.1038/ng1626;
RA Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P.,
RA Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H.,
RA de Winter J.P., Wang W.;
RT "A human ortholog of archaeal DNA repair protein Hef is defective in
RT Fanconi anemia complementation group M.";
RL Nat. Genet. 37:958-963(2005).
RN [11]
RP INTERACTION WITH BRCA2; FANCD2 AND XRCC3, PHOSPHORYLATION AT SER-7, AND
RP MUTAGENESIS OF SER-7; SER-383 AND SER-387.
RX PubMed=18212739; DOI=10.1038/sj.onc.1211034;
RA Wilson J.B., Yamamoto K., Marriott A.S., Hussain S., Sung P., Hoatlin M.E.,
RA Mathew C.G., Takata M., Thompson L.H., Kupfer G.M., Jones N.J.;
RT "FANCG promotes formation of a newly identified protein complex containing
RT BRCA2, FANCD2 and XRCC3.";
RL Oncogene 27:3641-3652(2008).
RN [12]
RP IDENTIFICATION IN THE FA COMPLEX.
RX PubMed=22343915; DOI=10.1182/blood-2011-10-385963;
RA Ali A.M., Pradhan A., Singh T.R., Du C., Li J., Wahengbam K., Grassman E.,
RA Auerbach A.D., Pang Q., Meetei A.R.;
RT "FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required
RT for functional integrity of the FA-BRCA DNA repair pathway.";
RL Blood 119:3285-3294(2012).
RN [13]
RP IDENTIFICATION IN THE FA COMPLEX.
RX PubMed=22705371; DOI=10.1016/j.molcel.2012.05.026;
RA Yan Z., Guo R., Paramasivam M., Shen W., Ling C., Fox D. III, Wang Y.,
RA Oostra A.B., Kuehl J., Lee D.Y., Takata M., Hoatlin M.E., Schindler D.,
RA Joenje H., de Winter J.P., Li L., Seidman M.M., Wang W.;
RT "A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to
RT the Fanconi anemia DNA repair network.";
RL Mol. Cell 47:61-75(2012).
RN [14]
RP IDENTIFICATION IN THE FA COMPLEX.
RX PubMed=22266823; DOI=10.1038/nsmb.2222;
RA Kim H., Yang K., Dejsuphong D., D'Andrea A.D.;
RT "Regulation of Rev1 by the Fanconi anemia core complex.";
RL Nat. Struct. Mol. Biol. 19:164-170(2012).
RN [15]
RP VARIANT FANCG PRO-71.
RX PubMed=11093276; DOI=10.1038/sj.ejhg.5200552;
RA Demuth I., Wlodarski M., Tipping A.J., Morgan N.V., de Winter J.P.,
RA Thiel M., Grasl S., Schindler D., D'Andrea A.D., Altay C., Kayserili H.,
RA Zatterale A., Kunze J., Ebell W., Mathew C.G., Joenje H., Sperling K.,
RA Digweed M.;
RT "Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.";
RL Eur. J. Hum. Genet. 8:861-868(2000).
RN [16]
RP VARIANT [LARGE SCALE ANALYSIS] THR-607.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [17]
RP VARIANT FANCG PRO-71, INTERACTION WITH HES1, SUBCELLULAR LOCATION, AND
RP MUTAGENESIS OF GLY-546.
RX PubMed=18550849; DOI=10.1182/blood-2008-04-152710;
RA Tremblay C.S., Huang F.F., Habi O., Huard C.C., Godin C., Levesque G.,
RA Carreau M.;
RT "HES1 is a novel interactor of the Fanconi anemia core complex.";
RL Blood 112:2062-2070(2008).
CC -!- FUNCTION: DNA repair protein that may operate in a postreplication
CC repair or a cell cycle checkpoint function. May be implicated in
CC interstrand DNA cross-link repair and in the maintenance of normal
CC chromosome stability. Candidate tumor suppressor gene.
CC -!- SUBUNIT: Belongs to the multisubunit FA complex composed of FANCA,
CC FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is
CC not found in FA patients. In complex with FANCF, FANCA and FANCL, but
CC not with FANCC, nor FANCE, interacts with HES1; this interaction may be
CC essential for the stability and nuclear localization of FA core complex
CC proteins. The complex with FANCC and FANCG may also include EIF2AK2 and
CC HSP70. When phosphorylated at Ser-7, forms a complex with BRCA2, FANCD2
CC and XRCC3. {ECO:0000269|PubMed:12724401, ECO:0000269|PubMed:15299030,
CC ECO:0000269|PubMed:15502827, ECO:0000269|PubMed:16116422,
CC ECO:0000269|PubMed:18212739, ECO:0000269|PubMed:18550849,
CC ECO:0000269|PubMed:22266823, ECO:0000269|PubMed:22343915,
CC ECO:0000269|PubMed:22705371}.
CC -!- INTERACTION:
CC O15287; Q92870-2: APBB2; NbExp=3; IntAct=EBI-81610, EBI-21535880;
CC O15287; P54252: ATXN3; NbExp=3; IntAct=EBI-81610, EBI-946046;
CC O15287; Q8TD31-3: CCHCR1; NbExp=3; IntAct=EBI-81610, EBI-10175300;
CC O15287; P08684: CYP3A4; NbExp=3; IntAct=EBI-81610, EBI-3928618;
CC O15287; G5E9A7: DMWD; NbExp=3; IntAct=EBI-81610, EBI-10976677;
CC O15287; O15360: FANCA; NbExp=13; IntAct=EBI-81610, EBI-81570;
CC O15287; O15360-3: FANCA; NbExp=5; IntAct=EBI-81610, EBI-21315382;
CC O15287; Q9NPI8: FANCF; NbExp=4; IntAct=EBI-81610, EBI-81589;
CC O15287; P14136: GFAP; NbExp=3; IntAct=EBI-81610, EBI-744302;
CC O15287; Q53GS7: GLE1; NbExp=3; IntAct=EBI-81610, EBI-1955541;
CC O15287; P04792: HSPB1; NbExp=3; IntAct=EBI-81610, EBI-352682;
CC O15287; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-81610, EBI-1055254;
CC O15287; O60333-2: KIF1B; NbExp=3; IntAct=EBI-81610, EBI-10975473;
CC O15287; O14901: KLF11; NbExp=3; IntAct=EBI-81610, EBI-948266;
CC O15287; P19404: NDUFV2; NbExp=3; IntAct=EBI-81610, EBI-713665;
CC O15287; P29474: NOS3; NbExp=3; IntAct=EBI-81610, EBI-1391623;
CC O15287; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-81610, EBI-2811583;
CC O15287; P16284: PECAM1; NbExp=3; IntAct=EBI-81610, EBI-716404;
CC O15287; Q13393: PLD1; NbExp=3; IntAct=EBI-81610, EBI-2827556;
CC O15287; Q99633: PRPF18; NbExp=3; IntAct=EBI-81610, EBI-2798416;
CC O15287; P60891: PRPS1; NbExp=3; IntAct=EBI-81610, EBI-749195;
CC O15287; P20339: RAB5A; NbExp=3; IntAct=EBI-81610, EBI-399437;
CC O15287; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-81610, EBI-5235340;
CC O15287; Q13813: SPTAN1; NbExp=4; IntAct=EBI-81610, EBI-351450;
CC O15287; P51687: SUOX; NbExp=3; IntAct=EBI-81610, EBI-3921347;
CC O15287; Q8N8B7-2: TCEANC; NbExp=3; IntAct=EBI-81610, EBI-11955057;
CC O15287; Q8N7U7-2: TPRX1; NbExp=3; IntAct=EBI-81610, EBI-14115717;
CC O15287; P08670: VIM; NbExp=3; IntAct=EBI-81610, EBI-353844;
CC O15287; O76024: WFS1; NbExp=3; IntAct=EBI-81610, EBI-720609;
CC O15287; Q86UD4: ZNF329; NbExp=3; IntAct=EBI-81610, EBI-7233259;
CC O15287; P14079: tax; Xeno; NbExp=3; IntAct=EBI-81610, EBI-9675698;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18550849}. Cytoplasm
CC {ECO:0000269|PubMed:18550849}. Note=The major form is nuclear. The
CC minor form is cytoplasmic.
CC -!- TISSUE SPECIFICITY: Highly expressed in testis and thymus. Found in
CC lymphoblasts.
CC -!- DISEASE: Fanconi anemia complementation group G (FANCG) [MIM:614082]: A
CC disorder affecting all bone marrow elements and resulting in anemia,
CC leukopenia and thrombopenia. It is associated with cardiac, renal and
CC limb malformations, dermal pigmentary changes, and a predisposition to
CC the development of malignancies. At the cellular level it is associated
CC with hypersensitivity to DNA-damaging agents, chromosomal instability
CC (increased chromosome breakage) and defective DNA repair.
CC {ECO:0000269|PubMed:11093276, ECO:0000269|PubMed:18550849}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- WEB RESOURCE: Name=Fanconi Anemia Mutation Database;
CC URL="https://www2.rockefeller.edu/fanconi/genes/jumpg";
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/FANCGID295.html";
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/fancg/";
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DR EMBL; U70310; AAB80802.1; -; mRNA.
DR EMBL; AJ007669; CAA07602.1; -; mRNA.
DR EMBL; AY795970; AAV40841.1; -; Genomic_DNA.
DR EMBL; AC004472; AAC07981.1; -; Genomic_DNA.
DR EMBL; AL353795; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000032; AAH00032.1; -; mRNA.
DR EMBL; BC011623; AAH11623.1; -; mRNA.
DR CCDS; CCDS6574.1; -.
DR PIR; T02244; T02244.
DR RefSeq; NP_004620.1; NM_004629.1.
DR PDB; 7KZP; EM; 3.10 A; G/H=1-622.
DR PDB; 7KZQ; EM; 4.20 A; G/H=1-622.
DR PDB; 7KZR; EM; 4.20 A; G/H=1-622.
DR PDB; 7KZS; EM; 4.20 A; G/H=1-622.
DR PDB; 7KZT; EM; 4.20 A; G/H=1-622.
DR PDB; 7KZV; EM; 4.20 A; G/H=1-622.
DR PDBsum; 7KZP; -.
DR PDBsum; 7KZQ; -.
DR PDBsum; 7KZR; -.
DR PDBsum; 7KZS; -.
DR PDBsum; 7KZT; -.
DR PDBsum; 7KZV; -.
DR AlphaFoldDB; O15287; -.
DR SMR; O15287; -.
DR BioGRID; 108484; 107.
DR ComplexPortal; CPX-6263; Fanconi anemia ubiquitin ligase complex.
DR CORUM; O15287; -.
DR IntAct; O15287; 81.
DR MINT; O15287; -.
DR STRING; 9606.ENSP00000367910; -.
DR MoonDB; O15287; Predicted.
DR iPTMnet; O15287; -.
DR PhosphoSitePlus; O15287; -.
DR BioMuta; FANCG; -.
DR EPD; O15287; -.
DR jPOST; O15287; -.
DR MassIVE; O15287; -.
DR PaxDb; O15287; -.
DR PeptideAtlas; O15287; -.
DR PRIDE; O15287; -.
DR ProteomicsDB; 48561; -.
DR Antibodypedia; 25694; 449 antibodies from 37 providers.
DR DNASU; 2189; -.
DR Ensembl; ENST00000378643.8; ENSP00000367910.4; ENSG00000221829.10.
DR GeneID; 2189; -.
DR KEGG; hsa:2189; -.
DR MANE-Select; ENST00000378643.8; ENSP00000367910.4; NM_004629.2; NP_004620.1.
DR CTD; 2189; -.
DR DisGeNET; 2189; -.
DR GeneCards; FANCG; -.
DR GeneReviews; FANCG; -.
DR HGNC; HGNC:3588; FANCG.
DR HPA; ENSG00000221829; Low tissue specificity.
DR MalaCards; FANCG; -.
DR MIM; 602956; gene.
DR MIM; 614082; phenotype.
DR neXtProt; NX_O15287; -.
DR OpenTargets; ENSG00000221829; -.
DR Orphanet; 84; Fanconi anemia.
DR PharmGKB; PA28002; -.
DR VEuPathDB; HostDB:ENSG00000221829; -.
DR eggNOG; ENOG502QVUI; Eukaryota.
DR GeneTree; ENSGT00390000007195; -.
DR HOGENOM; CLU_018870_0_0_1; -.
DR InParanoid; O15287; -.
DR OMA; GAASNCE; -.
DR OrthoDB; 358660at2759; -.
DR PhylomeDB; O15287; -.
DR TreeFam; TF330722; -.
DR PathwayCommons; O15287; -.
DR Reactome; R-HSA-6783310; Fanconi Anemia Pathway.
DR SignaLink; O15287; -.
DR SIGNOR; O15287; -.
DR BioGRID-ORCS; 2189; 68 hits in 1088 CRISPR screens.
DR ChiTaRS; FANCG; human.
DR GeneWiki; FANCG; -.
DR GenomeRNAi; 2189; -.
DR Pharos; O15287; Tbio.
DR PRO; PR:O15287; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; O15287; protein.
DR Bgee; ENSG00000221829; Expressed in ventricular zone and 158 other tissues.
DR ExpressionAtlas; O15287; baseline and differential.
DR Genevisible; O15287; HS.
DR GO; GO:0000785; C:chromatin; IDA:ComplexPortal.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0043240; C:Fanconi anaemia nuclear complex; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0003684; F:damaged DNA binding; TAS:ProtInc.
DR GO; GO:0006974; P:cellular response to DNA damage stimulus; IBA:GO_Central.
DR GO; GO:0006281; P:DNA repair; TAS:ProtInc.
DR GO; GO:0036297; P:interstrand cross-link repair; IC:ComplexPortal.
DR GO; GO:0007005; P:mitochondrion organization; IMP:UniProtKB.
DR GO; GO:0001541; P:ovarian follicle development; IEA:Ensembl.
DR GO; GO:0006513; P:protein monoubiquitination; IDA:ComplexPortal.
DR GO; GO:0009314; P:response to radiation; IEA:Ensembl.
DR GO; GO:0007286; P:spermatid development; IEA:Ensembl.
DR Gene3D; 1.25.40.10; -; 1.
DR InterPro; IPR039684; FANCG.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR PANTHER; PTHR15254; PTHR15254; 1.
DR SMART; SM00028; TPR; 3.
DR SUPFAM; SSF48452; SSF48452; 2.
PE 1: Evidence at protein level;
KW 3D-structure; Cytoplasm; Disease variant; DNA damage; DNA repair;
KW Fanconi anemia; Nucleus; Phosphoprotein; Reference proteome; Repeat;
KW TPR repeat.
FT CHAIN 1..622
FT /note="Fanconi anemia group G protein"
FT /id="PRO_0000106292"
FT REPEAT 246..279
FT /note="TPR 1"
FT REPEAT 344..377
FT /note="TPR 2"
FT REPEAT 453..486
FT /note="TPR 3"
FT REPEAT 514..547
FT /note="TPR 4"
FT MOD_RES 7
FT /note="Phosphoserine"
FT /evidence="ECO:0000269|PubMed:18212739"
FT VARIANT 71
FT /note="L -> P (in FANCG; associated with a mild clinical
FT phenotype; disruption of HES1-binding; no effect on FANCA-
FT binding)"
FT /evidence="ECO:0000269|PubMed:11093276,
FT ECO:0000269|PubMed:18550849"
FT /id="VAR_017495"
FT VARIANT 294
FT /note="G -> E (in dbSNP:rs17880082)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_021103"
FT VARIANT 297
FT /note="T -> I (in dbSNP:rs2237857)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_020311"
FT VARIANT 330
FT /note="P -> S (in dbSNP:rs4986940)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_021104"
FT VARIANT 378
FT /note="S -> L (in dbSNP:rs4986939)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_021105"
FT VARIANT 430
FT /note="K -> E (in dbSNP:rs17881054)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_021106"
FT VARIANT 513
FT /note="R -> Q (in dbSNP:rs17885240)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_021107"
FT VARIANT 603
FT /note="S -> F (in dbSNP:rs17878854)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_021108"
FT VARIANT 607
FT /note="A -> T (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs758407400)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035864"
FT MUTAGEN 7
FT /note="S->A: Loss of BRCA2-, FANCD2- and XRCC3-binding. No
FT effect on complex formation with FANCA and FANCF."
FT /evidence="ECO:0000269|PubMed:18212739"
FT MUTAGEN 383
FT /note="S->A: No effect on BRCA2-, FANCA-, FANCF-, nor
FT XRCC3-binding."
FT /evidence="ECO:0000269|PubMed:18212739"
FT MUTAGEN 387
FT /note="S->A: No effect on BRCA2-, FANCA-, FANCF-, nor
FT XRCC3-binding."
FT /evidence="ECO:0000269|PubMed:18212739"
FT MUTAGEN 546
FT /note="G->R: No effect on HES1-, nor FANCA-binding."
FT /evidence="ECO:0000269|PubMed:18550849"
SQ SEQUENCE 622 AA; 68554 MW; 4BC7475472AC3C84 CRC64;
MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL
PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE
LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL
LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC
PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA
GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL
LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL
ELLFRATPEE KEQGAAFNCE QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS
VQMCPGNRDT YFHLLQTLKR LDRRDEATAL WWRLEAQTKG SHEDALWSLP LYLESYLSWI
RPSDRDAFLE EFRTSLPKSC DL
