Reviewed, UniProtKB/Swiss-Prot O15287 (FANCG_HUMAN)

Names and origin

Protein names

Recommended name:
    Fanconi anemia group G protein
      Short name=Protein FACG
Alternative name(s):
    DNA repair protein XRCC9

Gene names

Name:	FANCG
Synonyms:	XRCC9

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	622 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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.
Subcellular location	Nucleus. Cytoplasm. Note: The major form is nuclear. The minor form is cytoplasmic.
Tissue specificity	Highly expressed in testis and thymus. Found in lymphoblasts.
Involvement in disease	Defects in FANCG are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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. Ref.7 Ref.8 Ref.9 Ref.10
Sequence similarities	Contains 4 TPR repeats.

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation Fanconi anemia
Domain	Repeat TPR repeat
Gene Ontology (GO)
Biological process	DNA repair Ref.1 Traceable author statement. Source: ProtInc cell cycle checkpoint Ref.1 Traceable author statement. Source: ProtInc mitochondrion organization Inferred from mutant phenotype. Source: UniProtKB
Cellular component	mitochondrion Inferred from direct assay. Source: UniProtKB nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	damaged DNA binding Ref.2 Traceable author statement. Source: ProtInc protein binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 622	622	Fanconi anemia group G protein		PRO_0000106292
Regions
	Repeat	246 – 279	34	TPR 1
	Repeat	344 – 377	34	TPR 2
	Repeat	453 – 486	34	TPR 3
	Repeat	514 – 547	34	TPR 4
Natural variations
	Natural variant	71	1	L → P in FA; associated with a mild clinical phenotype. Ref.10		VAR_017495
	Natural variant	294	1	G → E: dbSNP rs17880082. Ref.3		VAR_021103
	Natural variant	297	1	T → I: dbSNP rs2237857. Ref.3		VAR_020311
	Natural variant	330	1	P → S: dbSNP rs4986940. Ref.3		VAR_021104
	Natural variant	378	1	S → L: dbSNP rs4986939. Ref.3		VAR_021105
	Natural variant	430	1	K → E: dbSNP rs17881054. Ref.3		VAR_021106
	Natural variant	513	1	R → Q: dbSNP rs17885240. Ref.3		VAR_021107
	Natural variant	603	1	S → F: dbSNP rs17878854. Ref.3		VAR_021108
	Natural variant	607	1	A → T in a colorectal cancer sample; somatic mutation. Ref.11		VAR_035864

Sequences

	Sequence		Length	Mass (Da)
	O15287-1 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 4BC7475472AC3C84	FASTA	622	68,554
	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

References

	« Hide 'large scale' referencesShow '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: 9256465] [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: 9806548] [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. , 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: 15164053] [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: 15489334] [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: 10373536] [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: 12724401] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF AND FANCL.
[8]	"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: 15502827] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF AND FANCL.
[9]	"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: 16116422] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF; FANCL AND FANCM.
[10]	"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: 11093276] [Abstract] Cited for: VARIANT FA PRO-71.
[11]	"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. , 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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-607.
+	Additional computationally mapped references.

Web resources

Fanconi Anemia Mutation Database

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00005769.
PIR	T02244.
RefSeq	NP_004620.1.
UniGene	Hs.529782 Hs.591084
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O15287. 10 interactions.
PTM databases
PhosphoSite	O15287.
Proteomic databases
PRIDE	O15287.
Genome annotation databases
Ensembl	ENSG00000221829. Homo sapiens. [Contig view]
GeneID	2189.
KEGG	hsa:2189.
Organism-specific databases
GeneCards	GC09M035063.
H-InvDB	HIX0008011.
HGNC	HGNC:3588. FANCG.
MIM	227650. phenotype. 602956. gene+phenotype.
Orphanet	84. Fanconi anemia.
PharmGKB	PA28002.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O15287.
HOVERGEN	O15287.
OMA	O15287. LWREKND.
Enzyme and pathway databases
Pathway_Interaction_DB	bard1pathway. BARD1 signaling events.
Gene expression databases
ArrayExpress	O15287.
Bgee	O15287.
CleanEx	HS_FANCG.
GermOnline	ENSG00000165281. Homo sapiens.
Family and domain databases
InterPro	IPR011990. TPR-like_helical. IPR019734. TPR_repeat. [Graphical view]
Gene3D	G3DSA:1.25.40.10. TPR-like_helical. 1 hit.
SMART	SM00028. TPR. 3 hits. [Graphical view]
PROSITE	PS50005. TPR. False negative. PS50293. TPR_REGION. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	8847.
SOURCE	Search...

Entry information

Entry name

FANCG_HUMAN

Accession

Primary (citable) accession number: O15287

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	January 1, 1998
Last modified:	June 16, 2009
This is version 96 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)