O15287

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	FANCG_HUMAN; O15287;
Entrez ID	2189
GenBank Protein ID
GenBank Nucleotide ID
Protein Name	Fanconi anemia group G protein (Protein FACG) (DNA repair protein XRCC9)
Gene Name	FANCG; XRCC9
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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. Functional Description 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.
Sequence (Fasta)	MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL 60 PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE 120 LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL 180 LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC 240 PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL 300 ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA 360 GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL 420 LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL 480 ELLFRATPEE KEQGAAFNCE QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS 540 VQMCPGNRDT YFHLLQTLKR LDRRDEATAL WWRLEAQTKG SHEDALWSLP LYLESYLSWI 600 RPSDRDAFLE EFRTSLPKSC DL 623 Fasta Sequence >O15287\|FANCG; XRCC9\|Homo sapiens (Human) MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGLPAAVPVLPLELTVTCNFIILRASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRELWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLALLLETLNGSQSGASKDLLLLLKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLCPRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAELESLELLVEALNVPCSSKAPQFLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRAGDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEAAVALIQAGRAQDALTLCEELLSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCLELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLSVQMCPGNRDTYFHLLQTLKRLDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWIRPSDRDAFLEEFRTSLPKSCDL

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Fanconi anaemia		P	S7	15299017
1	[Reference]: Phosphorylation of fanconi anemia (FA) complementation group G protein, FANCG, at serine 7 is important for function of the FA pathway.

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	AML, leukaemia Fanconi anaemia G
CTD (Curated) (count: 4)	MESH:C531835 ; Esophageal atresia with or without tracheoesophageal fistula MESH:D005199 ; Fanconi Anemia OMIM:614082 ; FANCONI ANEMIA, COMPLEMENTATION GROUP G MESH:D009059 ; Mouth Diseases
DisGeNet (Curated) (count: 38) (view all)	C0002871; Anemia C0014850; Esophageal Atresia C0015625; Fanconi Anemia C0023418; leukemia C0023530; Leukopenia C0025362; Mental Retardation C0026636; Mouth Diseases C0037932; Curvature of spine C0040034; Thrombocytopenia C0040588; Tracheoesophageal Fistula C0162119; Hemoglobin low C0272027; Pyridoxine-responsive sideroblastic anemia C0349588; Short stature C0376545; Hematologic Neoplasms C0376628; Chromosome Breakage C0392386; Decreased platelet count C0423112; Short palpebral fissure C0423903; Low intelligence C0424688; Small head C0557874; Global developmental delay C0575897; Thumb deformity C0700208; Acquired scoliosis C0853697; Neutrophil count decreased C0917816; Mental deficiency C1836735; hypopigmented skin patch C1843367; Poor school performance C1851971; Hypoplastic myelodysplasia C1859424; Increased chromosomal breakage C1860236; Irregular hyperpigmentation C1861975; Cafe au lait spots, multiple C1864897; Cognitive delay C2749463; Radial aplasia/hypoplasia C3463824; MYELODYSPLASTIC SYNDROME C3469527; fanconi anemia complementation group g C3714756; Intellectual Disability C4020875; Mental and motor retardation C4020876; Dull intelligence C4024780; Almond-shaped eyes

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 4)	383 DSSEPRFSPPPSPPG dbPAF 387 PRFSPPPSPPGPCMP dbPAF 557 TYFHLLQTLKRLDRR dbPAF 7 *MSRQTTSVGSSCLD dbPAF
Ubiquitination (count: 7) (view all)	28 DRLVRQAKVAQNSGL PLMD 430 RTSSLLPKMSRLWED PLMD 491 FRATPEEKEQGAAFN PLMD 504 FNCEQGCKSDAALQQ PLMD 532 VASGQDTKALQDFLL PLMD 559 FHLLQTLKRLDRRDE PLMD 618 EFRTSLPKSCDL*** PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

O15287	P06493	HPRD
O15287	Q9BXW9	IntAct