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Aliases & Descriptions for FANCI
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases FLJ10719 1 , 2 KIAA1794 1 , 2 , 3 , 5
Descriptions Fanconi anemia, complementation group I 2 Protein FANCI 3
Search outside databases for aliases for FANCI genePrevious GC identifer: GC00U922091
Summaries for FANCI (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for FANCI : The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1(also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCMand FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconianemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability,hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNArepair. The members of the Fanconi anemia complementation group do not share sequence similarity;they are related by their assembly into a common nuclear protein complex. This gene encodes theprotein for complementation group I. Alternative splicing results in two transcript variantsencoding different isoforms. [provided by RefSeq] UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1 Function : Required for maintenance of chromosomal stability. Involved in the repair of DNAdouble-strand breaks by homologous recombination and in the repair of DNA cross-links.Participates in S phase and G2 phase checkpoint activation upon DNA damage. Promotes FANCD2ubiquitination and recruitment to DNA repair sites
Gene Wiki entry for FANCI
Genomic Location for FANCI
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 15q26.1 Ensembl cytogenetic band: 15q26.1 HGNC cytogenetic band: 15q26.1 FANCI Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure
GeneLoc location for GC15P087588:
(about GC identifiers )
Start:
87,588,198 bp from pter
End:
87,661,366 bp from pter
Size:
73,169 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000015.8 NT_010274.16 Proteins for FANCI
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1 (See
protein sequence )Recommended Name: Fanconi anemia group I protein Size : 1328 amino acids; 149324 Da
Subunit : Interacts directly with FANCD2
Subcellular location : Nucleus. Note=Concentrates in nuclear foci upon genotoxic stress
Secondary accessions : A4ZVE4 A5YMH4 A6NJZ0 Q96JN1 Q96ST0 Q9BT96Alternative splicing : 4 isoforms : Q9NVI1-3 Q9NVI1-2 Q9NVI1-1 Q9NVI1-4
Post-translational modifications:
Monoubiquitinated on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 ascells enter G2/M, or once DNA repair is completed. Monoubiquitination requires theFANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding tochromatin, DNA repair, and normal cell cycle progression1
Phosphorylated in response to DNA damage by ATM and/or ATR1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001106849.1 NP_060663.2 ENSEMBL proteins: ENSP00000300027 ENSP00000310842 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for FANCI: Assays for FANCI:
Protein
Domains/ Families for FANCI(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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ProtoNet protein and cluster: Q9NVI1
UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1 Domain : The C-terminal 30 residues are probably required for function in DNA repair
Gene Function for FANCI
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
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Clones , and
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): BC004277 Applied Biosystems Silencer ® siRNAs for FANCI Sigma-Aldrich siRNA for FANCI Sigma-Aldrich shRNA for FANCI Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001113378                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001113378                                  untagged cDNA clones in CMV expression vector (see all 4 ): BC004277  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001113378 UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1 Function : Required for maintenance of chromosomal stability. Involved in the repair of DNAdouble-strand breaks by homologous recombination and in the repair of DNA cross-links.Participates in S phase and G2 phase checkpoint activation upon DNA damage. Promotes FANCD2ubiquitination and recruitment to DNA repair sites
1 Gene Ontology (GO) molecular function term (links to tree view) :
About this table
Pathways & Interactions for FANCI
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/20 Interacting proteins for FANCI (Q9NVI1 1 , 2 ENSP00000300027 3 ) via UniProtKB, MINT, and/or STRING (see all 20
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for FANCI (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
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Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for FANCI
Transcripts for FANCI(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): BC004277 Sigma-Aldrich siRNA for FANCI Sigma-Aldrich shRNA for FANCI Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001113378 NM_018193
REFSEQ mRNAs for FANCI gene (2 alternative transcripts): NM_001113378.1 NM_018193.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001113378 NM_018193
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001113378                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001113378                                  untagged cDNA clones in CMV expression vector (see all 4 ): BC004277  
Additional cDNA sequence: AK001581.1 AK027564.1 BC004277.1 BC021859.1 BC140769.1 BC144483.1 BC146804.1 CR602910.1 EF469766.1 EF567077.1
20 DOTS entries : DT.40117040 DT.86850169 DT.97799629 DT.92430235 DT.100806670 DT.217587 DT.100806655 DT.95253571 DT.100658680 DT.100806663 DT.91923487 DT.100715141 DT.121036019 DT.40191266 DT.40213937 DT.95144659 DT.97846865 DT.121036084 DT.217586 DT.95253570
24/196 AceView cDNA sequences (see all 196
):AW304283 BM015662 BQ050477 AA280016 BQ643065 CB140357 AA972625 BM717894 AA280087 CB145921 BU165314 AK001581 AU130593 BX282492 BM461935 CR602910 AI200839 BM789375 AI990088 AA746496 AI337050 AW351664 BM478761 AW178307
Unigene Cluster for FANCI: Fanconi anemia, complementation group I Hs.513126 [show with all ESTs ] Unigene Representative Sequence: BC146804 GeneLoc Exon Structure 2 Ensembl transcripts including schematic representations : ENST00000300027
ENST00000310775
Expression for FANCI
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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FANCI expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for FANCI 1 / 2
8 probe-sets matching FANCI gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TTAGGAGGGTSOURCE GeneReport for Unigene cluster: Hs.513126
Orthologs for FANCI
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for FANCI gene from 5/8 species (see all 8
)
About this table Species with no ortholog for FANCI ENSEMBL Gene Tree for FANCI Paralogs for FANCI (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for FANCI (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for FANCI (up to first 250kb)
Disorders & Mutations for FANCI
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
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and/or TGDB .)
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OMIM: 611360 disorders : 608053 UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1
Defects in FANCI are a cause of Fanconi anemia complementation group I (FANCI)[MIM:609053, 227650]. Fanconi anemia (FA) is a genetically heterogeneous, autosomal recessivedisorder characterized by progressive pancytopenia, a diverse assortment of congenitalmalformations, and a predisposition to the development of malignancies. At the cellular level itis associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increasedchromosome breakage), and defective DNA repair
GeneTests: FANCI Fanconi Anemia Human Gene Mutation Database : FANCI
Medical News for FANCI (Possibly Related Articles in
Doctor's Guide )
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Publications for FANCI (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/19 PubMed articles for FANCI gene (see all 19
): Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. (PubMed id 17412408) 2, 3, 4 Smogorzewska A....Elledge S.J. (2007) FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. (PubMed id 17460694) 2, 3, 4 Sims A.E....Huang T.T. (2007) Identification of the Fanconi anemia complementation group I gene, FANCI. (PubMed id 17452773) 3, 4 Dorsman J.C.... Joenje H. (2007) A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243) 3, 4 Beausoleil S.A.... Gygi S.P. (2006) Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. (PubMed id 14630800) 2, 3 Levitus M....Joenje H. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906) 3, 4 Nagase T....Ohara O. (2001) FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway. (PubMed id 18931676) 3 Ishiai M....Takata M. (2008) Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976) 4 Daub H.... Mann M. (2008)
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Genome Databases showing FANCI
(According to
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euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
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Other Databases showing FANCI
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Specialized Databases showing FANCI (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
Fanconi Anemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/jumpi.html GeneReviews http://www.genetests.org/query?gene=FANCI
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-- Services for FANCI (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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