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Protein

Fanconi anemia group G protein

Gene

FANCG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • damaged DNA binding Source: ProtInc

GO - Biological processi

  • cell cycle checkpoint Source: ProtInc
  • DNA repair Source: ProtInc
  • interstrand cross-link repair Source: Reactome
  • mitochondrion organization Source: UniProtKB
  • ovarian follicle development Source: Ensembl
  • response to radiation Source: Ensembl
  • spermatid development Source: Ensembl

Keywordsi

Biological processDNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-6783310. Fanconi Anemia Pathway.
SIGNORiO15287.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000221829.9.
HGNCiHGNC:3588. FANCG.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Fanconi anemia complementation group G (FANCG)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614082
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01749571L → P in FANCG; associated with a mild clinical phenotype; disruption of HES1-binding; no effect on FANCA-binding. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi7S → A: Loss of BRCA2-, FANCD2- and XRCC3-binding. No effect on complex formation with FANCA and FANCF. 1 Publication1
Mutagenesisi383S → A: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding. 1 Publication1
Mutagenesisi387S → A: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding. 1 Publication1
Mutagenesisi546G → R: No effect on HES1-, nor FANCA-binding. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNETi2189.
GeneReviewsiFANCG.
MalaCardsiFANCG.
MIMi614082. phenotype.
OpenTargetsiENSG00000221829.
Orphaneti84. Fanconi anemia.
PharmGKBiPA28002.

Polymorphism and mutation databases

BioMutaiFANCG.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001062921 – 622Fanconi anemia group G proteinAdd BLAST622

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei7Phosphoserine1 Publication1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO15287.
PaxDbiO15287.
PeptideAtlasiO15287.
PRIDEiO15287.

PTM databases

iPTMnetiO15287.
PhosphoSitePlusiO15287.

Expressioni

Tissue specificityi

Highly expressed in testis and thymus. Found in lymphoblasts.

Gene expression databases

BgeeiENSG00000221829.
CleanExiHS_FANCG.
ExpressionAtlasiO15287. baseline and differential.
GenevisibleiO15287. HS.

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

Show more details

Protein-protein interaction databases

BioGridi108484. 57 interactors.
CORUMiO15287.
IntActiO15287. 39 interactors.
MINTiMINT-96443.
STRINGi9606.ENSP00000367910.

Structurei

3D structure databases

ProteinModelPortaliO15287.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati246 – 279TPR 1Add BLAST34
Repeati344 – 377TPR 2Add BLAST34
Repeati453 – 486TPR 3Add BLAST34
Repeati514 – 547TPR 4Add BLAST34

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiENOG410IE5D. Eukaryota.
ENOG4111KPJ. LUCA.
GeneTreeiENSGT00390000007195.
HOGENOMiHOG000231403.
HOVERGENiHBG051551.
InParanoidiO15287.
KOiK10894.
OMAiKTWSPPA.
OrthoDBiEOG091G06C0.
PhylomeDBiO15287.
TreeFamiTF330722.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiView protein in InterPro
IPR011990. TPR-like_helical_dom_sf.
IPR019734. TPR_repeat.
SMARTiView protein in SMART
SM00028. TPR. 3 hits.
SUPFAMiSSF48452. SSF48452. 4 hits.

Sequencei

Sequence statusi: Complete.

O15287-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL
60 70 80 90 100
RGLLHSLQGL PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL
110 120 130 140 150
ERVLETQEQQ GPRLEQGLRE LWDSVLRASC LLPELLSALH RLVGLQAALW
160 170 180 190 200
LSADRLGDLA LLLETLNGSQ SGASKDLLLL LKTWSPPAEE LDAPLTLQDA
210 220 230 240 250
QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC PRPVLVQVYT
260 270 280 290 300
ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
310 320 330 340 350
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL
360 370 380 390 400
ASRCLQTGRA GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA
410 420 430 440 450
AVALIQAGRA QDALTLCEEL LSRTSSLLPK MSRLWEDARK GTKELPYCPL
460 470 480 490 500
WVSATHLLQG QAWVQLGAQK VAISEFSRCL ELLFRATPEE KEQGAAFNCE
510 520 530 540 550
QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS VQMCPGNRDT
560 570 580 590 600
YFHLLQTLKR LDRRDEATAL WWRLEAQTKG SHEDALWSLP LYLESYLSWI
610 620
RPSDRDAFLE EFRTSLPKSC DL
Length:622
Mass (Da):68,554
Last modified:January 1, 1998 - v1
Checksum:i4BC7475472AC3C84
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01749571L → P in FANCG; associated with a mild clinical phenotype; disruption of HES1-binding; no effect on FANCA-binding. 2 Publications1
Natural variantiVAR_021103294G → E1 PublicationCorresponds to variant dbSNP:rs17880082Ensembl.1
Natural variantiVAR_020311297T → I1 PublicationCorresponds to variant dbSNP:rs2237857Ensembl.1
Natural variantiVAR_021104330P → S1 PublicationCorresponds to variant dbSNP:rs4986940Ensembl.1
Natural variantiVAR_021105378S → L1 PublicationCorresponds to variant dbSNP:rs4986939Ensembl.1
Natural variantiVAR_021106430K → E1 PublicationCorresponds to variant dbSNP:rs17881054Ensembl.1
Natural variantiVAR_021107513R → Q1 PublicationCorresponds to variant dbSNP:rs17885240Ensembl.1
Natural variantiVAR_021108603S → F1 PublicationCorresponds to variant dbSNP:rs17878854Ensembl.1
Natural variantiVAR_035864607A → T in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs758407400Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. No translation available.
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.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFANCG_HUMAN
AccessioniPrimary (citable) accession number: O15287
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: November 22, 2017
This is version 176 of the entry and version 1 of the sequence. See 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