LOCUS       NP_004620                622 aa            linear   PRI 30-APR-2025
DEFINITION  Fanconi anemia group G protein [Homo sapiens].
ACCESSION   NP_004620
VERSION     NP_004620.1
DBSOURCE    REFSEQ: accession NM_004629.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 622)
  AUTHORS   Soukupova,J., Stastna,B., Kanwal,M., Hojny,J., Zemankova,P.,
            Borecka,M., Cerna,L., Cerna,M., Cerna,M., Curtisova,V.,
            Dolezalova,T., Duskova,P., Foretova,L., Havranek,O., Horackova,K.,
            Hovhannisyan,M., Hruskova,L., Chvojka,S., Janatova,M., Janikova,M.,
            Jelinkova,S., Just,P., Kalousova,M., Kleiblova,P., Kosarova,M.,
            Koudova,M., Kral,J., Krausova,M., Krutilkova,V., Machackova,E.,
            Matejkova,K., Michalovska,R., Nehasil,P., Nemcova,B., Novotny,J.,
            Palek,M., Pesek,P., Safarikova,M., Scheinost,O., Springer,D.,
            Stolarova,L., Stranecky,V., Subrt,I., Tavandzis,S., Tureckova,E.,
            Vesela,K., Vlckova,Z., Vocka,M., Zima,T., Macurek,L. and Kleibl,Z.
  CONSRTM   CZECANCA consortium
  TITLE     A comprehensive study evaluating germline FANCG variants in
            predisposition to breast and ovarian cancer
  JOURNAL   Cancer Med 13 (16), e70103 (2024)
   PUBMED   39149814
  REMARK    GeneRIF: A comprehensive study evaluating germline FANCG variants
            in predisposition to breast and ovarian cancer.
REFERENCE   2  (residues 1 to 622)
  AUTHORS   Trepte,P., Secker,C., Kostova,S., Maseko,S.B., Choi,S.G.,
            Blavier,J., Minia,I., Ramos,E.S., Cassonnet,P., Golusik,S.,
            Zenkner,M., Beetz,S., Liebich,M.J., Scharek,N., Schutz,A.,
            Sperling,M., Lisurek,M., Wang,Y., Spirohn,K., Hao,T.,
            Calderwood,M.A., Hill,D.E., Landthaler,M., Olivet,J., Twizere,J.C.,
            Vidal,M. and Wanker,E.E.
  TITLE     AI-guided pipeline for protein-protein interaction drug discovery
            identifies a SARS-CoV-2 inhibitor
  JOURNAL   bioRxiv (2023)
   PUBMED   37398436
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 622)
  AUTHORS   Shahid,M., Azfaralariff,A., Zubair,M., Abdulkareem Najm,A.,
            Khalili,N., Law,D., Firasat,S. and Fazry,S.
  TITLE     In silico study of missense variants of FANCA, FANCC and FANCG
            genes reveals high risk deleterious alleles predisposing to Fanconi
            anemia pathogenesis
  JOURNAL   Gene 812, 146104 (2022)
   PUBMED   34864095
  REMARK    GeneRIF: In silico study of missense variants of FANCA, FANCC and
            FANCG genes reveals high risk deleterious alleles predisposing to
            Fanconi anemia pathogenesis.
REFERENCE   4  (residues 1 to 622)
  AUTHORS   Cochran,T. and Li,W.
  TITLE     Frequent internuclear bridging in a Fanconi anemia patient with
            FANCG mutation
  JOURNAL   Blood 138 (8), 738 (2021)
   PUBMED   34436527
  REMARK    GeneRIF: Frequent internuclear bridging in a Fanconi anemia patient
            with FANCG mutation.
REFERENCE   5  (residues 1 to 622)
  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   6  (residues 1 to 622)
  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   7  (residues 1 to 622)
  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   8  (residues 1 to 622)
  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
REFERENCE   9  (residues 1 to 622)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   10 (residues 1 to 622)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ007669.1.
            
            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 :: BC011623.2, U70310.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378643.8/ ENSP00000367910.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     Protein         1..622
                     /product="Fanconi anemia group G protein"
                     /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; Fanconi anemia complementation group G"
                     /calculated_mol_wt=68423
     Site            7
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:18212739; propagated from
                     UniProtKB/Swiss-Prot (O15287.1)"
     Region          207..>295
                     /region_name="LapB"
                     /note="Lipopolysaccharide biosynthesis regulator
                     YciM/LapB, contains six TPR domains and a C-terminal
                     metal-binding domain [Cell wall/membrane/envelope
                     biogenesis]; COG2956"
                     /db_xref="CDD:442196"
     Site            order(213..214,217..218,220,247,250..251,254..255,
                     257..258,281,284..285,288..289,292)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          213..237
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          245..275
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          246..279
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (O15287.1)"
     Region          344..377
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (O15287.1)"
     Region          453..486
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (O15287.1)"
     Region          514..547
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (O15287.1)"
     CDS             1..622
                     /gene="FANCG"
                     /gene_synonym="FAG; XRCC9"
                     /coded_by="NM_004629.2:419..2287"
                     /db_xref="CCDS:CCDS6574.1"
                     /db_xref="GeneID:2189"
                     /db_xref="HGNC:HGNC:3588"
                     /db_xref="MIM:602956"
ORIGIN      
        1 msrqttsvgs scldlwrekn drlvrqakva qnsgltlrrq qlaqdalegl rgllhslqgl
       61 paavpvlple ltvtcnfiil raslaqgfte dqaqdiqrsl ervletqeqq gprleqglre
      121 lwdsvlrasc llpellsalh rlvglqaalw lsadrlgdla llletlngsq sgaskdllll
      181 lktwsppaee ldapltlqda qglkdvllta fayrqglqel itgnpdkals slheaasglc
      241 prpvlvqvyt algschrkmg npqrallylv aalkegsawg pplleasrly qqlgdttael
      301 eslellveal nvpcsskapq flievelllp ppdlasplhc gtqsqtkhil asrclqtgra
      361 gdaaehyldl lallldssep rfspppsppg pcmpevflea avaliqagra qdaltlceel
      421 lsrtssllpk msrlwedark gtkelpycpl wvsathllqg qawvqlgaqk vaisefsrcl
      481 ellfratpee keqgaafnce qgcksdaalq qlraaalisr glewvasgqd tkalqdflls
      541 vqmcpgnrdt yfhllqtlkr ldrrdeatal wwrleaqtkg shedalwslp lylesylswi
      601 rpsdrdafle efrtslpksc dl
//
