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O15287 (FANCG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fanconi anemia group G protein

Short name=Protein FACG
Alternative name(s):
DNA repair protein XRCC9
Gene names
Name:FANCG
Synonyms:XRCC9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length622 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.

Subunit structure

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCA and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. When phosphorylated at Ser-7, forms a complex with BRCA2, FANCD2 and XRCC3. Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.17

Subcellular location

Nucleus. Cytoplasm. Note: The major form is nuclear. The minor form is cytoplasmic. Ref.17

Tissue specificity

Highly expressed in testis and thymus. Found in lymphoblasts.

Involvement in disease

Fanconi anemia complementation group G (FANCG) [MIM:614082]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Ref.17

Sequence similarities

Contains 4 TPR repeats.

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 622622Fanconi anemia group G protein
PRO_0000106292

Regions

Repeat246 – 27934TPR 1
Repeat344 – 37734TPR 2
Repeat453 – 48634TPR 3
Repeat514 – 54734TPR 4

Amino acid modifications

Modified residue71Phosphoserine Ref.11

Natural variations

Natural variant711L → P in FANCG; associated with a mild clinical phenotype; disruption of HES1-binding; no effect on FANCA-binding. Ref.15 Ref.17
VAR_017495
Natural variant2941G → E. Ref.3
Corresponds to variant rs17880082 [ dbSNP | Ensembl ].
VAR_021103
Natural variant2971T → I. Ref.3
Corresponds to variant rs2237857 [ dbSNP | Ensembl ].
VAR_020311
Natural variant3301P → S. Ref.3
Corresponds to variant rs4986940 [ dbSNP | Ensembl ].
VAR_021104
Natural variant3781S → L. Ref.3
Corresponds to variant rs4986939 [ dbSNP | Ensembl ].
VAR_021105
Natural variant4301K → E. Ref.3
Corresponds to variant rs17881054 [ dbSNP | Ensembl ].
VAR_021106
Natural variant5131R → Q. Ref.3
Corresponds to variant rs17885240 [ dbSNP | Ensembl ].
VAR_021107
Natural variant6031S → F. Ref.3
Corresponds to variant rs17878854 [ dbSNP | Ensembl ].
VAR_021108
Natural variant6071A → T in a colorectal cancer sample; somatic mutation. Ref.16
VAR_035864

Experimental info

Mutagenesis71S → A: Loss of BRCA2-, FANCD2- and XRCC3-binding. No effect on complex formation with FANCA and FANCF. Ref.11
Mutagenesis3831S → A: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding. Ref.11
Mutagenesis3871S → A: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding. Ref.11
Mutagenesis5461G → R: No effect on HES1-, nor FANCA-binding. Ref.17

Sequences

Sequence LengthMass (Da)Tools
O15287 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 4BC7475472AC3C84

FASTA62268,554
        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 

« Hide

References

« Hide 'large scale' references
[1]"The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells."
Liu N., Lamerdin J.E., Tucker J.D., Zhou Z.-Q., Walter C.A., Albala J.S., Busch D.B., Thompson L.H.
Proc. Natl. Acad. Sci. U.S.A. 94:9232-9237(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The Fanconi anaemia group G gene FANCG is identical with XRCC9."
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.
Nat. Genet. 20:281-283(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]NIEHS SNPs program
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLU-294; ILE-297; SER-330; LEU-378; GLU-430; GLN-513 AND PHE-603.
[4]"DNA sequence and analysis of human chromosome 9."
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. expand/collapse author list , 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.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Kidney and Uterus.
[6]"Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex."
Garcia-Higuera I., Kuang Y., Naf D., Wasik J., D'Andrea A.D.
Mol. Cell. Biol. 19:4866-4873(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION.
[7]"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome."
Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., Hoatlin M.E., Wang W.
Mol. Cell. Biol. 23:3417-3426(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF AND FANCL.
[8]"The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR)."
Zhang X., Li J., Sejas D.P., Rathbun K.R., Bagby G.C., Pang Q.
J. Biol. Chem. 279:43910-43919(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH EIF2AK2; FANCA; FANCC AND HSP70.
[9]"X-linked inheritance of Fanconi anemia complementation group B."
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.
Nat. Genet. 36:1219-1224(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF AND FANCL.
[10]"A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M."
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.
Nat. Genet. 37:958-963(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF; FANCL AND FANCM.
[11]"FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3."
Wilson J.B., Yamamoto K., Marriott A.S., Hussain S., Sung P., Hoatlin M.E., Mathew C.G., Takata M., Thompson L.H., Kupfer G.M., Jones N.J.
Oncogene 27:3641-3652(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH BRCA2; FANCD2 AND XRCC3, PHOSPHORYLATION AT SER-7, MUTAGENESIS OF SER-7; SER-383 AND SER-387.
[12]"FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway."
Ali A.M., Pradhan A., Singh T.R., Du C., Li J., Wahengbam K., Grassman E., Auerbach A.D., Pang Q., Meetei A.R.
Blood 119:3285-3294(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE FA COMPLEX.
[13]"A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network."
Yan Z., Guo R., Paramasivam M., Shen W., Ling C., Fox D. III, Wang Y., Oostra A.B., Kuehl J., Lee D.Y., Takata M., Hoatlin M.E., Schindler D., Joenje H., de Winter J.P., Li L., Seidman M.M., Wang W.
Mol. Cell 47:61-75(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE FA COMPLEX.
[14]"Regulation of Rev1 by the Fanconi anemia core complex."
Kim H., Yang K., Dejsuphong D., D'Andrea A.D.
Nat. Struct. Mol. Biol. 19:164-170(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE FA COMPLEX.
[15]"Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9."
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.
Eur. J. Hum. Genet. 8:861-868(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FANCG PRO-71.
[16]"The consensus coding sequences of human breast and colorectal cancers."
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. expand/collapse author list , 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.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-607.
[17]"HES1 is a novel interactor of the Fanconi anemia core complex."
Tremblay C.S., Huang F.F., Habi O., Huard C.C., Godin C., Levesque G., Carreau M.
Blood 112:2062-2070(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FANCG PRO-71, INTERACTION WITH HES1, SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-546.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U70310 mRNA. Translation: AAB80802.1.
AJ007669 mRNA. Translation: CAA07602.1.
AY795970 Genomic DNA. Translation: AAV40841.1.
AC004472 Genomic DNA. Translation: AAC07981.1.
AL353795 Genomic DNA. Translation: CAH70994.1.
BC000032 mRNA. Translation: AAH00032.1.
BC011623 mRNA. Translation: AAH11623.1.
PIRT02244.
RefSeqNP_004620.1. NM_004629.1.
UniGeneHs.591084.

3D structure databases

ProteinModelPortalO15287.
SMRO15287. Positions 211-294, 515-573.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108484. 39 interactions.
IntActO15287. 12 interactions.
MINTMINT-96443.
STRING9606.ENSP00000367910.

PTM databases

PhosphoSiteO15287.

Proteomic databases

PaxDbO15287.
PRIDEO15287.

Protocols and materials databases

DNASU2189.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000378643; ENSP00000367910; ENSG00000221829.
GeneID2189.
KEGGhsa:2189.
UCSCuc003zwb.1. human.

Organism-specific databases

CTD2189.
GeneCardsGC09M035073.
HGNCHGNC:3588. FANCG.
HPACAB008105.
HPA045335.
MIM602956. gene.
614082. phenotype.
neXtProtNX_O15287.
Orphanet84. Fanconi anemia.
PharmGKBPA28002.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40254.
HOGENOMHOG000231403.
HOVERGENHBG051551.
InParanoidO15287.
KOK10894.
OMADTKALQD.
OrthoDBEOG7S21Z5.
PhylomeDBO15287.
TreeFamTF330722.

Enzyme and pathway databases

ReactomeREACT_216. DNA Repair.

Gene expression databases

ArrayExpressO15287.
BgeeO15287.
CleanExHS_FANCG.
GenevestigatorO15287.

Family and domain databases

Gene3D1.25.40.10. 1 hit.
InterProIPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamPF00515. TPR_1. 1 hit.
[Graphical view]
SMARTSM00028. TPR. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFANCG.
GenomeRNAi2189.
NextBio8847.
PROO15287.
SOURCESearch...

Entry information

Entry nameFANCG_HUMAN
AccessionPrimary (citable) accession number: O15287
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM