Property Summary

NCBI Gene PubMed Count 37
PubMed Score 41.77
PubTator Score 37.06

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
non-small cell lung cancer 2798 1.0791968795192E-27
atypical teratoid/rhabdoid tumor 1095 8.08329604309187E-13
psoriasis 6685 7.35889189446618E-11
lung adenocarcinoma 2714 2.99211375785726E-10
glioblastoma 5572 3.20559160553875E-9
malignant mesothelioma 3163 3.05933870609968E-7
Atopic dermatitis 944 6.17018699638802E-7
group 3 medulloblastoma 2254 1.47560733588013E-6
adrenocortical carcinoma 1427 1.58593389353922E-6
nasopharyngeal carcinoma 1056 1.60419202403985E-6
ulcerative colitis 2087 2.08938935354334E-6
primitive neuroectodermal tumor 3031 2.38878415541097E-6
pediatric high grade glioma 2712 5.44929066487184E-6
medulloblastoma, large-cell 6234 6.03034166391769E-6
pancreatic cancer 2300 2.29521237715277E-5
breast carcinoma 1614 2.51571585957572E-5
lung cancer 4473 2.55424001992968E-5
pituitary cancer 1972 3.37650345172887E-5
ovarian cancer 8492 6.52472801612187E-5
posterior fossa group A ependymoma 1511 1.49745623298566E-4
invasive ductal carcinoma 2950 2.98147147225211E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 3.73565297803123E-4
colon cancer 1475 4.97526344013285E-4
ductal carcinoma in situ 1745 8.51873839938425E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.001073734162659
primary Sjogren syndrome 789 0.0145673003094872
Endometriosis 535 0.0147008748120648
Breast cancer 3099 0.0398587006793182
Disease Target Count Z-score Confidence
Fanconi's anemia 50 0.0 4.0
Disease Target Count Z-score Confidence
Anemia 252 5.458 2.7
Bloom syndrome 30 3.574 1.8

Expression

Synonym

Accession Q9NVI1 A4ZVE4 A5YMH4 A6NJZ0 Q96JN1 Q96ST0 Q9BT96 Protein FACI
Symbols KIAA1794

Gene

  Ortholog (11)

 MGI Term (1)

 GWAS Trait (1)

Gene RIF (22)

PMID Text
26590883 FANCI mutations are associated with Fanconi anemia in VACTERL association.
26430909 These findings indicate that FANCI functions upstream of FA core complex recruitment independently of FANCD2, and alter the current view of the FA-BRCA pathway.
26336824 FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation.
25843623 Results show that ATR-mediated phosphorylation of FANCI, controls dormant origin firing in response to DNA replication stress.
25168188 these purification methods for human FANCI and FANCD2 provide novel procedures to facilitate structural and biochemical studies of human FANCI and FANCD2.
24623813 Mutations in FANCI that impair its DNA binding activity compromise DNA-stimulated FANCD2 monoubiquitination.
24278431 Our studies reveal a previously unknown mechanism for the coordinate nuclear import of a subset of FANCD2 and FANCI, a key early step in the cellular ICL response.
22855611 A CUE ubiquitin-binding domain in the FANCD2 protein is required for interaction with FANCI, retention of monoubiquitinated FANCD2, and FANCI in chromatin, and for efficient DNA interstrand crosslinks repair.
21355096 These data suggest a key role for the E3 ligase activity of RAD18 in the recruitment of FANCD2 and FANCI to chromatin and the events leading to their ubiquitylation during S phase.
20971953 although proper nuclear localization of FANCI is crucial for robust FANCD2 monoubiquitination, the putative FANCI EDGE motif is important for DNA crosslink repair
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AA Sequence

MDQKILSLAAEKTADKLQEFLQTLREGDLTNLLQNQAVKGKVAGALLRAIFKGSPCSEEAGTLRRRKIYT      1 - 70
CCIQLVESGDLQKEIASEIIGLLMLEAHHFPGPLLVELANEFISAVREGSLVNGKSLELLPIILTALATK     71 - 140
KENLAYGKGVLSGEECKKQLINTLCSGRWDQQYVIQLTSMFKDVPLTAEEVEFVVEKALSMFSKMNLQEI    141 - 210
PPLVYQLLVLSSKGSRKSVLEGIIAFFSALDKQHNEEQSGDELLDVVTVPSGELRHVEGTIILHIVFAIK    211 - 280
LDYELGRELVKHLKVGQQGDSNNNLSPFSIALLLSVTRIQRFQDQVLDLLKTSVVKSFKDLQLLQGSKFL    281 - 350
QNLVPHRSYVSTMILEVVKNSVHSWDHVTQGLVELGFILMDSYGPKKVLDGKTIETSPSLSRMPNQHACK    351 - 420
LGANILLETFKIHEMIRQEILEQVLNRVVTRASSPISHFLDLLSNIVMYAPLVLQSCSSKVTEAFDYLSF    421 - 490
LPLQTVQRLLKAVQPLLKVSMSMRDCLILVLRKAMFANQLDARKSAVAGFLLLLKNFKVLGSLSSSQCSQ    491 - 560
SLSVSQVHVDVHSHYNSVANETFCLEIMDSLRRCLSQQADVRLMLYEGFYDVLRRNSQLANSVMQTLLSQ    561 - 630
LKQFYEPKPDLLPPLKLEACILTQGDKISLQEPLDYLLCCIQHCLAWYKNTVIPLQQGEEEEEEEEAFYE    631 - 700
DLDDILESITNRMIKSELEDFELDKSADFSQSTSIGIKNNICAFLVMGVCEVLIEYNFSISSFSKNRFED    701 - 770
ILSLFMCYKKLSDILNEKAGKAKTKMANKTSDSLLSMKFVSSLLTALFRDSIQSHQESLSVLRSSNEFMR    771 - 840
YAVNVALQKVQQLKETGHVSGPDGQNPEKIFQNLCDITRVLLWRYTSIPTSVEESGKKEKGKSISLLCLE    841 - 910
GLQKIFSAVQQFYQPKIQQFLRALDVTDKEGEEREDADVSVTQRTAFQIRQFQRSLLNLLSSQEEDFNSK    911 - 980
EALLLVTVLTSLSKLLEPSSPQFVQMLSWTSKICKENSREDALFCKSLMNLLFSLHVSYKSPVILLRDLS    981 - 1050
QDIHGHLGDIDQDVEVEKTNHFAIVNLRTAAPTVCLLVLSQAEKVLEEVDWLITKLKGQVSQETLSEEAS   1051 - 1120
SQATLPNQPVEKAIIMQLGTLLTFFHELVQTALPSGSCVDTLLKDLCKMYTTLTALVRYYLQVCQSSGGI   1121 - 1190
PKNMEKLVKLSGSHLTPLCYSFISYVQNKSKSLNYTGEKKEKPAAVATAMARVLRETKPIPNLIFAIEQY   1191 - 1260
EKFLIHLSKKSKVNLMQHMKLSTSRDFKIKGNILDMVLREDGEDENEEGTASEHGGQNKEPAKKKRKK     1261 - 1328
//

Text Mined References (44)

PMID Year Title
26590883 2016 Novel FANCI mutations in Fanconi anemia with VACTERL association.
26430909 2015 FANCI Regulates Recruitment of the FA Core Complex at Sites of DNA Damage Independently of FANCD2.
26336824 2015 FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation.
25843623 2015 ATR-mediated phosphorylation of FANCI regulates dormant origin firing in response to replication stress.
25168188 2014 Expression and purification of human FANCI and FANCD2 using Escherichia coli cells.
24623813 2014 Regulation of FANCD2 and FANCI monoubiquitination by their interaction and by DNA.
24278431 2013 Coordinate nuclear targeting of the FANCD2 and FANCI proteins via a FANCD2 nuclear localization signal.
23455922 2013 Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22855611 2012 Regulation of the Fanconi anemia pathway by a CUE ubiquitin-binding domain in the FANCD2 protein.
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