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UniProtKB/Swiss-Prot entry O15287


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name FANCG_HUMAN
Primary accession number O15287
Secondary accession numbers None
Integrated into Swiss-Prot on July 15, 1999
Sequence was last modified on January 1, 1998 (Sequence version 1)
Annotations were last modified on    June 16, 2009 (Entry version 96)
Name and origin of the protein
Protein name Fanconi anemia group G protein
Synonyms Protein FACG
DNA repair protein XRCC9
Gene name
Name: FANCG
Synonyms: XRCC9
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1073/pnas.94.17.9232; PubMed=9256465 [NCBI, ExPASy, EBI, Israel, Japan]
Liu N., Lamerdin J.E., Tucker J.D., Zhou Z.-Q., Walter C.A., Albala J.S., Busch D.B., Thompson L.H.;
"The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells.";
Proc. Natl. Acad. Sci. U.S.A. 94:9232-9237(1997).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
DOI=10.1038/3093; PubMed=9806548 [NCBI, ExPASy, EBI, Israel, Japan]
De Winter J.P., Waisfisz Q., Rooimans M.A., Van Berkel C.G.M., Bosnoyan-Collins L., Alon N., Carreau M., Bender O., Demuth I., Schindler D., Pronk J.C., Arwert F., Hoehn H., Digweed M., Buchwald M., Joenje H.;
"The Fanconi anaemia group G gene FANCG is identical with XRCC9.";
Nat. Genet. 20:281-283(1998).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLU-294; ILE-297; SER-330; LEU-378; GLU-430; GLN-513 AND PHE-603.
NIEHS SNPs program;
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02465; PubMed=15164053 [NCBI, ExPASy, EBI, Israel, Japan]
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Kidney, and Uterus;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
CHARACTERIZATION.
PubMed=10373536 [NCBI, ExPASy, EBI, Israel, Japan]
Garcia-Higuera I., Kuang Y., Naf D., Wasik J., D'Andrea A.D.;
"Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex.";
Mol. Cell. Biol. 19:4866-4873(1999).
[7]
IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF AND FANCL.
DOI=10.1128/MCB.23.10.3417-3426.2003; PubMed=12724401 [NCBI, ExPASy, EBI, Israel, Japan]
Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., Hoatlin M.E., Wang W.;
"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.";
Mol. Cell. Biol. 23:3417-3426(2003).
[8]
IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF AND FANCL.
DOI=10.1038/ng1458; PubMed=15502827 [NCBI, ExPASy, EBI, Israel, Japan]
Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C., Rooimans M.A., Bier P., Hoatlin M., Pals G., de Winter J.P., Wang W., Joenje H.;
"X-linked inheritance of Fanconi anemia complementation group B.";
Nat. Genet. 36:1219-1224(2004).
[9]
IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF; FANCL AND FANCM.
DOI=10.1038/ng1626; PubMed=16116422 [NCBI, ExPASy, EBI, Israel, Japan]
Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P., Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H., de Winter J.P., Wang W.;
"A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.";
Nat. Genet. 37:958-963(2005).
[10]
VARIANT FA PRO-71.
DOI=10.1038/sj.ejhg.5200552; PubMed=11093276 [NCBI, ExPASy, EBI, Israel, Japan]
Demuth I., Wlodarski M., Tipping A.J., Morgan N.V., de Winter J.P., Thiel M., Grasl S., Schindler D., D'Andrea A.D., Altay C., Kayserili H., Zatterale A., Kunze J., Ebell W., Mathew C.G., Joenje H., Sperling K., Digweed M.;
"Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.";
Eur. J. Hum. Genet. 8:861-868(2000).
[11]
VARIANT [LARGE SCALE ANALYSIS] THR-607.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U70310; AAB80802.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ007669; CAA07602.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY795970; AAV40841.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC004472; AAC07981.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL353795; CAH70994.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC000032; AAH00032.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC011623; AAH11623.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00005769; -.
PIR T02244; T02244.
RefSeq NP_004620.1; -.
UniGene Hs.529782
3D structure databases
ModBase O15287.
Protein-protein interaction databases
IntAct O15287; 10.
PTM databases
PhosphoSite O15287; -.
Enzyme and pathway databases
Pathway_Interaction_DB bard1pathway; BARD1 signaling events.
Organism-specific databases
GeneCards GC09M035063; -.
H-InvDB HIX0008011; -.
HGNC HGNC:3588; FANCG.
GenAtlas FANCG.
MIM 227650; phenotype. [NCBI / EBI]
602956; gene+phenotype. [NCBI / EBI]
Orphanet 84; Fanconi anemia.
PharmGKB PA28002; -.
Gene expression databases
ArrayExpress O15287; -.
Bgee O15287; -.
CleanEx HS_FANCG; -.
GermOnline ENSG00000165281; Homo sapiens.
Ontologies
GO
GO:0005739; Cellular component: mitochondrion (inferred from direct assay from UniProtKB).
GO:0005634; Cellular component: nucleus (inferred from electronic annotation from UniProtKB-SubCell).
GO:0003684; Molecular function: damaged DNA binding (traceable author statement from ProtInc).
GO:0005515; Molecular function: protein binding (inferred from physical interaction from UniProtKB).
GO:0000075; Biological process: cell cycle checkpoint (traceable author statement from ProtInc).
GO:0006281; Biological process: DNA repair (traceable author statement from ProtInc).
GO:0007005; Biological process: mitochondrion organization (inferred from mutant phenotype from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR011990; TPR-like_helical.
IPR019734; TPR_repeat.
Graphical view of domain structure.
Gene3D G3DSA:1.25.40.10; TPR-like_helical; 1.
SMART SM00028; TPR; 3.
SMART graphical view of domain structure.
PROSITE PS50005; TPR; FALSE_NEG.
PS50293; TPR_REGION; FALSE_NEG.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE O15287; -.
Genome annotation databases
Ensembl ENSG00000221829; Homo sapiens. [Contig view]
GeneID 2189; -.
KEGG hsa:2189; -.
Phylogenomic databases
HOGENOM O15287; -.
HOVERGEN O15287; -.
OMA O15287; LWREKND.
Other
NextBio 8847; -.
SOURCE FANCG; Homo sapiens.
ProtoNet O15287.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Cytoplasm; Disease mutation; DNA damage; DNA repair; Fanconi anemia; Nucleus; Polymorphism; Repeat; TPR repeat.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   622  622     Fanconi anemia group G protein. PRO_0000106292
REPEAT   246   279  34     TPR 1. 
REPEAT   344   377  34     TPR 2. 
REPEAT   453   486  34     TPR 3. 
REPEAT   514   547  34     TPR 4. 
VARIANT   71    71  1     L -> P (in FA; associated with a mild clinical phenotype). VAR_017495 
VARIANT   294   294  1     G -> E (in dbSNP:rs17880082 [NCBI]). VAR_021103 
VARIANT   297   297  1     T -> I (in dbSNP:rs2237857 [NCBI]). VAR_020311 
VARIANT   330   330  1     P -> S (in dbSNP:rs4986940 [NCBI]). VAR_021104 
VARIANT   378   378  1     S -> L (in dbSNP:rs4986939 [NCBI]). VAR_021105 
VARIANT   430   430  1     K -> E (in dbSNP:rs17881054 [NCBI]). VAR_021106 
VARIANT   513   513  1     R -> Q (in dbSNP:rs17885240 [NCBI]). VAR_021107 
VARIANT   603   603  1     S -> F (in dbSNP:rs17878854 [NCBI]). VAR_021108 
VARIANT   607   607  1     A -> T (in a colorectal cancer sample; somatic mutation). VAR_035864 
Sequence information
Length: 622 AA [This is the length of the unprocessed precursor] Molecular weight: 68554 Da [This is the MW of the unprocessed precursor] CRC64: 4BC7475472AC3C84 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL 

        70         80         90        100        110        120 
PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE 

       130        140        150        160        170        180 
LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL 

       190        200        210        220        230        240 
LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC 

       250        260        270        280        290        300 
PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL 

       310        320        330        340        350        360 
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA 

       370        380        390        400        410        420 
GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL 

       430        440        450        460        470        480 
LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL 

       490        500        510        520        530        540 
ELLFRATPEE KEQGAAFNCE QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS 

       550        560        570        580        590        600 
VQMCPGNRDT YFHLLQTLKR LDRRDEATAL WWRLEAQTKG SHEDALWSLP LYLESYLSWI 

       610        620 
RPSDRDAFLE EFRTSLPKSC DL 

O15287 in FASTA format

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