Reactome | UniProt:O15287 FANCG

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UniProt:O15287 FANCG Show undefined attributes

chain	chain:1-622
checksum	4BC7475472AC3C84
comment	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 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.INTERACTION The major form is nuclear. The minor form is cytoplasmic.TISSUE SPECIFICITY Highly expressed in testis and thymus. Found in lymphoblasts.DISEASE The disease is caused by variants affecting the gene represented in this entry.
crossReference	[DatabaseIdentifier:11448487] ENSEMBL:ENSG00000221829 [DatabaseIdentifier:12371761] RefSeq:NP_004620.1 [DatabaseIdentifier:12286488] Pharos - Targets:O15287 [DatabaseIdentifier:12266425] PRO:O15287 [DatabaseIdentifier:12150787] PDB:7KZQ [DatabaseIdentifier:12150791] PDB:7KZV [DatabaseIdentifier:12150789] PDB:7KZR [DatabaseIdentifier:12150788] PDB:7KZT [DatabaseIdentifier:12150785] PDB:7KZP [DatabaseIdentifier:12150790] PDB:7KZS [DatabaseIdentifier:12137548] Orphanet:FANCG [DatabaseIdentifier:12126221] OpenTargets:ENSG00000221829 [DatabaseIdentifier:11841646] HPA:ENSG00000221829-FANCG [DatabaseIdentifier:11788601] GeneCards:FANCG [DatabaseIdentifier:11694840] ENSEMBL:ENST00000448890 [DatabaseIdentifier:11694841] ENSEMBL:ENST00000378643 [DatabaseIdentifier:11572142] ENSEMBL:ENSP00000409607 [DatabaseIdentifier:11572141] ENSEMBL:ENSP00000367910
databaseName	UniProt
dbId	54638
description	recommendedName: Fanconi anemia group G protein shortName: Protein FACG alternativeName: DNA repair protein XRCC9
displayName	UniProt:O15287 FANCG
geneName	FANCG XRCC9
identifier	O15287
isSequenceChanged	false
keyword	3D-structure Cytoplasm Disease variant DNA damage DNA repair Fanconi anemia Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat TPR repeat
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	FANCG
otherIdentifier	11756256_a_at 17093595 203564_PM_at 203564_at 2189 3204120 3204440 3204441 3204464 3204465 3204466 3204467 3204468 3204469 3204470 3204471 3204472 3204473 3204474 3204475 3204476 3204477 3204478 3204479 3204480 3204481 3204482 3204483 3204485 3204486 3204487 3204488 3204489 3204490 3204491 3204492 3204493 3204494 3204495 3204497 37584_at 8160935 A_23_P71644 GE55181 GO:0000785 GO:0001541 GO:0003677 GO:0003684 GO:0005515 GO:0005634 GO:0005654 GO:0005737 GO:0005739 GO:0005829 GO:0006281 GO:0006974 GO:0007005 GO:0007286 GO:0009314 GO:0016607 GO:0022414 GO:0036297 GO:0043240 GO:0048856 HMNXSV003030302 ILMN_1758728 PH_hs_0025352 TC09001049.hg g4759335_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-420788] FANCG [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-419532] FANCG [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000221829] ENSEMBL:ENSG00000221829 FANCG [ReferenceDNASequence:12739021] UCSC:O15287 FANCG [ReferenceDNASequence:12111317] OMIM:602956 FANCG [ReferenceDNASequence:12052822] NCBI Gene:2189 FANCG [ReferenceDNASequence:11968729] Monarch:2189 FANCG [ReferenceDNASequence:11879814] KEGG:hsa:2189 FANCG [ReferenceDNASequence:11820253] HGNC:3588 FANCG [ReferenceDNASequence:11436652] dbSNP Gene:2189 FANCG [ReferenceDNASequence:11414950] CTD Gene:2189 FANCG [ReferenceDNASequence:11399630] COSMIC - genes:FANCG FANCG [ReferenceDNASequence:11338940] BioGPS Gene:2189 FANCG
referenceTranscript	[ReferenceRNASequence:12553552] RefSeq:NM_004629.2 FANCG
schemaClass	ReferenceGeneProduct
secondaryIdentifier	FANCG_HUMAN
sequenceLength	622
species	[Species:48887] Homo sapiens
stId	uniprot:O15287
url	http://purl.uniprot.org/uniprot/O15287

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