O15287 · FANCG_HUMAN
- ProteinFanconi anemia group G protein
- GeneFANCG
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids622 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | chromatin | |
Cellular Component | cytosol | |
Cellular Component | Fanconi anaemia nuclear complex | |
Cellular Component | mitochondrion | |
Cellular Component | nucleolus | |
Cellular Component | nucleoplasm | |
Cellular Component | plasma membrane | |
Molecular Function | damaged DNA binding | |
Biological Process | DNA damage response | |
Biological Process | DNA repair | |
Biological Process | interstrand cross-link repair | |
Biological Process | mitochondrion organization | |
Biological Process | ovarian follicle development | |
Biological Process | response to radiation | |
Biological Process | spermatid development |
Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameFanconi anemia group G protein
- Short namesProtein FACG
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO15287
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Fanconi anemia complementation group G (FANCG)
- Note
- 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 alsoMIM:614082
Natural variants in FANCG
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_017495 | 71 | L>P | in FANCG; associated with a mild clinical phenotype; disruption of HES1-binding; no effect on FANCA-binding |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 7 | Loss of BRCA2-, FANCD2- and XRCC3-binding. No effect on complex formation with FANCA and FANCF. | ||||
Sequence: S → A | ||||||
Natural variant | VAR_017495 | 71 | in FANCG; associated with a mild clinical phenotype; disruption of HES1-binding; no effect on FANCA-binding | |||
Sequence: L → P | ||||||
Natural variant | VAR_021103 | 294 | in dbSNP:rs17880082 | |||
Sequence: G → E | ||||||
Natural variant | VAR_020311 | 297 | in dbSNP:rs2237857 | |||
Sequence: T → I | ||||||
Natural variant | VAR_021104 | 330 | in dbSNP:rs4986940 | |||
Sequence: P → S | ||||||
Natural variant | VAR_021105 | 378 | in dbSNP:rs4986939 | |||
Sequence: S → L | ||||||
Mutagenesis | 383 | No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding. | ||||
Sequence: S → A | ||||||
Mutagenesis | 387 | No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding. | ||||
Sequence: S → A | ||||||
Natural variant | VAR_021106 | 430 | in dbSNP:rs17881054 | |||
Sequence: K → E | ||||||
Natural variant | VAR_021107 | 513 | in dbSNP:rs17885240 | |||
Sequence: R → Q | ||||||
Mutagenesis | 546 | No effect on HES1-, nor FANCA-binding. | ||||
Sequence: G → R | ||||||
Natural variant | VAR_021108 | 603 | in dbSNP:rs17878854 | |||
Sequence: S → F | ||||||
Natural variant | VAR_035864 | 607 | in a colorectal cancer sample; somatic mutation; dbSNP:rs758407400 | |||
Sequence: A → T |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,030 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000106292 | 1-622 | Fanconi anemia group G protein | |||
Sequence: MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGLPAAVPVLPLELTVTCNFIILRASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRELWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLALLLETLNGSQSGASKDLLLLLKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLCPRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAELESLELLVEALNVPCSSKAPQFLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRAGDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEAAVALIQAGRAQDALTLCEELLSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCLELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLSVQMCPGNRDTYFHLLQTLKRLDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWIRPSDRDAFLEEFRTSLPKSCDL | ||||||
Modified residue | 7 | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in testis and thymus. Found in lymphoblasts.
Gene expression databases
Organism-specific databases
Interaction
Subunit
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.
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 246-279 | TPR 1 | ||||
Sequence: VQVYTALGSCHRKMGNPQRALLYLVAALKEGSAW | ||||||
Repeat | 344-377 | TPR 2 | ||||
Sequence: SQTKHILASRCLQTGRAGDAAEHYLDLLALLLDS | ||||||
Repeat | 453-486 | TPR 3 | ||||
Sequence: SATHLLQGQAWVQLGAQKVAISEFSRCLELLFRA | ||||||
Repeat | 514-547 | TPR 4 | ||||
Sequence: AAALISRGLEWVASGQDTKALQDFLLSVQMCPGN |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length622
- Mass (Da)68,554
- Last updated1998-01-01 v1
- Checksum4BC7475472AC3C84
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
F8WC08 | F8WC08_HUMAN | FANCG | 106 | ||
C9JSE3 | C9JSE3_HUMAN | FANCG | 215 | ||
A0A8Q3WMK6 | A0A8Q3WMK6_HUMAN | FANCG | 554 | ||
A0A8Q3WLH9 | A0A8Q3WLH9_HUMAN | FANCG | 620 | ||
A0A8Q3SJ04 | A0A8Q3SJ04_HUMAN | FANCG | 587 |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U70310 EMBL· GenBank· DDBJ | AAB80802.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ007669 EMBL· GenBank· DDBJ | CAA07602.1 EMBL· GenBank· DDBJ | mRNA | ||
AY795970 EMBL· GenBank· DDBJ | AAV40841.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AC004472 EMBL· GenBank· DDBJ | AAC07981.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AL353795 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC000032 EMBL· GenBank· DDBJ | AAH00032.1 EMBL· GenBank· DDBJ | mRNA | ||
BC011623 EMBL· GenBank· DDBJ | AAH11623.1 EMBL· GenBank· DDBJ | mRNA |