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O15287

- FANCG_HUMAN

UniProt

O15287 - FANCG_HUMAN

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Protein
Fanconi anemia group G protein
Gene
FANCG, XRCC9
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. damaged DNA binding Source: ProtInc
  2. protein binding Source: UniProtKB

GO - Biological processi

  1. DNA repair Source: Reactome
  2. cell cycle checkpoint Source: ProtInc
  3. mitochondrion organization Source: UniProtKB
  4. ovarian follicle development Source: Ensembl
  5. response to radiation Source: Ensembl
  6. spermatid development Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Enzyme and pathway databases

ReactomeiREACT_18410. Fanconi Anemia pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group G protein
Short name:
Protein FACG
Alternative name(s):
DNA repair protein XRCC9
Gene namesi
Name:FANCG
Synonyms:XRCC9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:3588. FANCG.

Subcellular locationi

Nucleus. Cytoplasm
Note: The major form is nuclear. The minor form is cytoplasmic.1 Publication

GO - Cellular componenti

  1. Fanconi anaemia nuclear complex Source: UniProtKB
  2. cytoplasm Source: HPA
  3. mitochondrion Source: UniProtKB
  4. nucleolus Source: HPA
  5. nucleoplasm Source: Reactome
  6. plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711L → P in FANCG; associated with a mild clinical phenotype; disruption of HES1-binding; no effect on FANCA-binding. 2 Publications
VAR_017495

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi7 – 71S → A: Loss of BRCA2-, FANCD2- and XRCC3-binding. No effect on complex formation with FANCA and FANCF. 1 Publication
Mutagenesisi383 – 3831S → A: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding. 1 Publication
Mutagenesisi387 – 3871S → A: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding. 1 Publication
Mutagenesisi546 – 5461G → R: No effect on HES1-, nor FANCA-binding. 1 Publication

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

MIMi614082. phenotype.
Orphaneti84. Fanconi anemia.
PharmGKBiPA28002.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 622622Fanconi anemia group G protein
PRO_0000106292Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei7 – 71Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO15287.
PaxDbiO15287.
PRIDEiO15287.

PTM databases

PhosphoSiteiO15287.

Expressioni

Tissue specificityi

Highly expressed in testis and thymus. Found in lymphoblasts.

Gene expression databases

ArrayExpressiO15287.
BgeeiO15287.
CleanExiHS_FANCG.
GenevestigatoriO15287.

Organism-specific databases

HPAiCAB008105.
HPA045335.

Interactioni

Subunit structurei

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 XRCC3.9 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FANCAO1536010EBI-81610,EBI-81570
FANCFQ9NPI84EBI-81610,EBI-81589
SPTAN1Q138134EBI-81610,EBI-351450

Protein-protein interaction databases

BioGridi108484. 39 interactions.
IntActiO15287. 12 interactions.
MINTiMINT-96443.
STRINGi9606.ENSP00000367910.

Structurei

3D structure databases

ProteinModelPortaliO15287.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati246 – 27934TPR 1
Add
BLAST
Repeati344 – 37734TPR 2
Add
BLAST
Repeati453 – 48634TPR 3
Add
BLAST
Repeati514 – 54734TPR 4
Add
BLAST

Sequence similaritiesi

Contains 4 TPR repeats.

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiNOG40254.
HOGENOMiHOG000231403.
HOVERGENiHBG051551.
InParanoidiO15287.
KOiK10894.
OMAiDTKALQD.
OrthoDBiEOG7S21Z5.
PhylomeDBiO15287.
TreeFamiTF330722.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF00515. TPR_1. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O15287-1 [UniParc]FASTAAdd to Basket

« Hide

MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL    50
RGLLHSLQGL PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL 100
ERVLETQEQQ GPRLEQGLRE LWDSVLRASC LLPELLSALH RLVGLQAALW 150
LSADRLGDLA LLLETLNGSQ SGASKDLLLL LKTWSPPAEE LDAPLTLQDA 200
QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC PRPVLVQVYT 250
ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL 300
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL 350
ASRCLQTGRA GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA 400
AVALIQAGRA QDALTLCEEL LSRTSSLLPK MSRLWEDARK GTKELPYCPL 450
WVSATHLLQG QAWVQLGAQK VAISEFSRCL ELLFRATPEE KEQGAAFNCE 500
QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS VQMCPGNRDT 550
YFHLLQTLKR LDRRDEATAL WWRLEAQTKG SHEDALWSLP LYLESYLSWI 600
RPSDRDAFLE EFRTSLPKSC DL 622
Length:622
Mass (Da):68,554
Last modified:January 1, 1998 - v1
Checksum:i4BC7475472AC3C84
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711L → P in FANCG; associated with a mild clinical phenotype; disruption of HES1-binding; no effect on FANCA-binding. 2 Publications
VAR_017495
Natural varianti294 – 2941G → E.1 Publication
Corresponds to variant rs17880082 [ dbSNP | Ensembl ].
VAR_021103
Natural varianti297 – 2971T → I.1 Publication
Corresponds to variant rs2237857 [ dbSNP | Ensembl ].
VAR_020311
Natural varianti330 – 3301P → S.1 Publication
Corresponds to variant rs4986940 [ dbSNP | Ensembl ].
VAR_021104
Natural varianti378 – 3781S → L.1 Publication
Corresponds to variant rs4986939 [ dbSNP | Ensembl ].
VAR_021105
Natural varianti430 – 4301K → E.1 Publication
Corresponds to variant rs17881054 [ dbSNP | Ensembl ].
VAR_021106
Natural varianti513 – 5131R → Q.1 Publication
Corresponds to variant rs17885240 [ dbSNP | Ensembl ].
VAR_021107
Natural varianti603 – 6031S → F.1 Publication
Corresponds to variant rs17878854 [ dbSNP | Ensembl ].
VAR_021108
Natural varianti607 – 6071A → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035864

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS6574.1.
PIRiT02244.
RefSeqiNP_004620.1. NM_004629.1.
UniGeneiHs.591084.

Genome annotation databases

EnsembliENST00000378643; ENSP00000367910; ENSG00000221829.
GeneIDi2189.
KEGGihsa:2189.
UCSCiuc003zwb.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Fanconi Anemia Mutation Database
Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS6574.1.
PIRi T02244.
RefSeqi NP_004620.1. NM_004629.1.
UniGenei Hs.591084.

3D structure databases

ProteinModelPortali O15287.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108484. 39 interactions.
IntActi O15287. 12 interactions.
MINTi MINT-96443.
STRINGi 9606.ENSP00000367910.

PTM databases

PhosphoSitei O15287.

Proteomic databases

MaxQBi O15287.
PaxDbi O15287.
PRIDEi O15287.

Protocols and materials databases

DNASUi 2189.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378643 ; ENSP00000367910 ; ENSG00000221829 .
GeneIDi 2189.
KEGGi hsa:2189.
UCSCi uc003zwb.1. human.

Organism-specific databases

CTDi 2189.
GeneCardsi GC09M035073.
GeneReviewsi FANCG.
HGNCi HGNC:3588. FANCG.
HPAi CAB008105.
HPA045335.
MIMi 602956. gene.
614082. phenotype.
neXtProti NX_O15287.
Orphaneti 84. Fanconi anemia.
PharmGKBi PA28002.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40254.
HOGENOMi HOG000231403.
HOVERGENi HBG051551.
InParanoidi O15287.
KOi K10894.
OMAi DTKALQD.
OrthoDBi EOG7S21Z5.
PhylomeDBi O15287.
TreeFami TF330722.

Enzyme and pathway databases

Reactomei REACT_18410. Fanconi Anemia pathway.

Miscellaneous databases

GeneWikii FANCG.
GenomeRNAii 2189.
NextBioi 8847.
PROi O15287.
SOURCEi Search...

Gene expression databases

ArrayExpressi O15287.
Bgeei O15287.
CleanExi HS_FANCG.
Genevestigatori O15287.

Family and domain databases

Gene3Di 1.25.40.10. 1 hit.
InterProi IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view ]
Pfami PF00515. TPR_1. 1 hit.
[Graphical view ]
SMARTi SM00028. TPR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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] [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. 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. Cited for: VARIANT FANCG PRO-71.
  16. 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.

Entry informationi

Entry nameiFANCG_HUMAN
AccessioniPrimary (citable) accession number: O15287
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 144 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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