Reactome | UniProt:Q9NPI8 FANCF

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UniProt:Q9NPI8 FANCF Show undefined attributes

chain	chain:1-374
checksum	1F295CD1FBE6ED7D
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 (By similarity).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 FANCA, FANCG 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.INTERACTION The disease is caused by variants affecting the gene represented in this entry.
crossReference	[DatabaseIdentifier:12817406] ZINC target:Q9NPI8 [DatabaseIdentifier:12813977] ZINC - Substances:FANCF_HUMAN [DatabaseIdentifier:12394578] RefSeq:NP_073562.1 [DatabaseIdentifier:12294633] Pharos - Targets:Q9NPI8 [DatabaseIdentifier:12278238] PRO:Q9NPI8 [DatabaseIdentifier:12150791] PDB:7KZV [DatabaseIdentifier:12150785] PDB:7KZP [DatabaseIdentifier:12234880] PDB:2IQC [DatabaseIdentifier:12150789] PDB:7KZR [DatabaseIdentifier:12150788] PDB:7KZT [DatabaseIdentifier:12150787] PDB:7KZQ [DatabaseIdentifier:12150790] PDB:7KZS [DatabaseIdentifier:12137885] Orphanet:FANCF [DatabaseIdentifier:12134472] OpenTargets:ENSG00000183161 [DatabaseIdentifier:11849772] HPA:ENSG00000183161-FANCF [DatabaseIdentifier:11796807] GeneCards:FANCF [DatabaseIdentifier:11709814] ENSEMBL:ENST00000327470 [DatabaseIdentifier:11587115] ENSEMBL:ENSP00000330875 [DatabaseIdentifier:11484484] ENSEMBL:ENSG00000183161
databaseName	UniProt
dbId	54636
description	recommendedName: Fanconi anemia group F protein shortName: Protein FACF
displayName	UniProt:Q9NPI8 FANCF
geneName	FANCF
identifier	Q9NPI8
isSequenceChanged	false
keyword	3D-structure Direct protein sequencing DNA damage DNA repair Fanconi anemia Nucleus Proteomics identification Reference proteome
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	FANCF
otherIdentifier	11732173_a_at 11732174_a_at 11732175_s_at 16736722 218689_PM_at 218689_at 2188 222713_PM_s_at 222713_s_at 3366520 3366521 3366522 3366523 3366524 3366525 3366526 3366527 3366528 3366529 3366530 56843_at 57674_at 7947138 80474_at A_23_P12896 A_33_P3386364 GO:0000785 GO:0005515 GO:0005634 GO:0005654 GO:0005829 GO:0006281 GO:0006974 GO:0036297 GO:0043240 HMNXSV003046768 ILMN_1682724 PH_hs_0004011 PH_hs_0030800 TC11001498.hg g12232376_3p_at g6715136_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-419537] FANCF [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-420794] FANCF [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12695374] UCSC:Q9NPI8 FANCF [ReferenceDNASequence:12118646] OMIM:613897 FANCF [ReferenceDNASequence:12063659] NCBI Gene:2188 FANCF [ReferenceDNASequence:11979566] Monarch:2188 FANCF [ReferenceDNASequence:11889639] KEGG:hsa:2188 FANCF [ReferenceDNASequence:11828519] HGNC:3587 FANCF [ReferenceDNASequence:11429563] dbSNP Gene:2188 FANCF [ReferenceDNASequence:11426125] CTD Gene:2188 FANCF [ReferenceDNASequence:11393590] COSMIC - genes:FANCF FANCF [ReferenceDNASequence:11349777] BioGPS Gene:2188 FANCF [ReferenceDNASequence:ensembl:ENSG00000183161] ENSEMBL:ENSG00000183161 FANCF
referenceTranscript	[ReferenceRNASequence:12576345] RefSeq:NM_022725.4 FANCF
schemaClass	ReferenceGeneProduct
secondaryIdentifier	FANCF_HUMAN Q52LM0
sequenceLength	374
species	[Species:48887] Homo sapiens
stId	uniprot:Q9NPI8
url	http://purl.uniprot.org/uniprot/Q9NPI8

Referrals

(interactor)	[UndirectedInteraction:11230299] UniProt:Q9NPI8 <-> UniProt:Q8WWU5-7 (IntAct) [UndirectedInteraction:11230295] UniProt:Q9NPI8 <-> UniProt:O15287 (IntAct) [UndirectedInteraction:11227661] UniProt:P42858 <-> UniProt:Q9NPI8 (IntAct) [UndirectedInteraction:11202205] UniProt:O15360 <-> UniProt:Q9NPI8 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-419537] FANCF [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-420794] FANCF [cytosol]

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