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Aliases for FANCI Gene

Aliases for FANCI Gene

  • Fanconi Anemia, Complementation Group I 2 3
  • KIAA1794 2 3 4 6
  • Fanconi Anemia Group I Protein 3
  • Protein FACI 4

External Ids for FANCI Gene

Previous HGNC Symbols for FANCI Gene

  • KIAA1794

Previous GeneCards Identifiers for FANCI Gene

  • GC00U922091
  • GC15P087588
  • GC15P089787
  • GC15P065899

Summaries for FANCI Gene

Entrez Gene Summary for FANCI Gene

  • 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, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. 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 the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for FANCI Gene

FANCI (Fanconi Anemia, Complementation Group I) is a Protein Coding gene. Diseases associated with FANCI include fanconi anemia, complementation group i and fanci-related fanconi anemia. Among its related pathways are DNA Repair and Gastric cancer network 2.

UniProtKB/Swiss-Prot for FANCI Gene

  • Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage.

Gene Wiki entry for FANCI Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCI Gene

Genomics for FANCI Gene

Regulatory Elements for FANCI Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FANCI Gene

Start:
89,243,949 bp from pter
End:
89,317,261 bp from pter
Size:
73,313 bases
Orientation:
Plus strand

Genomic View for FANCI Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FANCI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCI Gene

Proteins for FANCI Gene

  • Protein details for FANCI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVI1-FANCI_HUMAN
    Recommended name:
    Fanconi anemia group I protein
    Protein Accession:
    Q9NVI1
    Secondary Accessions:
    • A4ZVE4
    • A5YMH4
    • A6NJZ0
    • Q96JN1
    • Q96ST0
    • Q9BT96

    Protein attributes for FANCI Gene

    Size:
    1328 amino acids
    Molecular mass:
    149324 Da
    Quaternary structure:
    • Interacts with FANCD2; the interaction is direct. Interacts with FANCL. Interacts with MTMR15/FAN1.
    SequenceCaution:
    • Sequence=AAH04277.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91770.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55200.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FANCI Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FANCI Gene

Proteomics data for FANCI Gene at MOPED

Post-translational modifications for FANCI Gene

  • Monoubiquitinated by FANCL on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding to chromatin, DNA repair, and normal cell cycle progression. Monoubiquitination is stimulated by DNA-binding.
  • Phosphorylated in response to DNA damage by ATM and/or ATR.
  • Ubiquitination at Lys12, Lys16, Lys39, Lys41, Lys52, Lys331, Lys339, Lys348, Lys402, Lys431, Lys501, Lys523, Lys638, Lys715, Lys799, Lys842, Lys866, Lys879, Lys1139, Lys1161, Lys1172, Lys849, and Lys854
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FANCI Gene

Domains for FANCI Gene

Gene Families for FANCI Gene

HGNC:
  • FANC :Fanconi anemia, complementation groups

Protein Domains for FANCI Gene

Suggested Antigen Peptide Sequences for FANCI Gene

Graphical View of Domain Structure for InterPro Entry

Q9NVI1

UniProtKB/Swiss-Prot:

FANCI_HUMAN :
  • Q9NVI1
Domain:
  • The C-terminal 30 residues are probably required for function in DNA repair
genes like me logo Genes that share domains with FANCI: view

Function for FANCI Gene

Molecular function for FANCI Gene

UniProtKB/Swiss-Prot Function: Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage.

Gene Ontology (GO) - Molecular Function for FANCI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 17460694
GO:0070182 DNA polymerase binding IPI 19995904
genes like me logo Genes that share ontologies with FANCI: view

Phenotypes for FANCI Gene

MGI mutant phenotypes for FANCI:
inferred from 1 alleles
GenomeRNAi human phenotypes for FANCI:
genes like me logo Genes that share phenotypes with FANCI: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for FANCI Gene

Localization for FANCI Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCI Gene

Nucleus. Note=Observed in spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites. They are frequently interlinked through BLM-associated ultra-fine DNA bridges.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FANCI Gene COMPARTMENTS Subcellular localization image for FANCI gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 2

Gene Ontology (GO) - Cellular Components for FANCI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with FANCI: view

Pathways for FANCI Gene

genes like me logo Genes that share pathways with FANCI: view

Pathways by source for FANCI Gene

1 BioSystems pathway for FANCI Gene
1 KEGG pathway for FANCI Gene

Gene Ontology (GO) - Biological Process for FANCI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
GO:0007049 cell cycle IEA --
GO:0031398 positive regulation of protein ubiquitination IDA 18029348
genes like me logo Genes that share ontologies with FANCI: view

Transcripts for FANCI Gene

Unigene Clusters for FANCI Gene

Fanconi anemia, complementation group I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FANCI

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FANCI

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FANCI Gene

No ASD Table

Relevant External Links for FANCI Gene

GeneLoc Exon Structure for
FANCI
ECgene alternative splicing isoforms for
FANCI

Expression for FANCI Gene

mRNA expression in normal human tissues for FANCI Gene

mRNA differential expression in normal tissues according to GTEx for FANCI Gene

This gene is overexpressed in Testis (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FANCI Gene

SOURCE GeneReport for Unigene cluster for FANCI Gene Hs.513126

genes like me logo Genes that share expressions with FANCI: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for FANCI Gene

Orthologs for FANCI Gene

This gene was present in the common ancestor of animals.

Orthologs for FANCI Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FANCI 35
  • 99.52 (n)
  • 99.32 (a)
FANCI 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FANCI 35
  • 87.8 (n)
  • 85.16 (a)
FANCI 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FANCI 35
  • 89.87 (n)
  • 89.16 (a)
FANCI 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fanci 35
  • 83.03 (n)
  • 81.08 (a)
Fanci 16
Fanci 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FANCI 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 67 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fanci 35
  • 82.66 (n)
  • 81.11 (a)
chicken
(Gallus gallus)
Aves FANCI 35
  • 69.01 (n)
  • 67.58 (a)
FANCI 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 66 (a)
OneToMany
-- 36
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia polg 35
  • 66.95 (n)
  • 67.85 (a)
zebrafish
(Danio rerio)
Actinopterygii fanci 35
  • 62.51 (n)
  • 61.86 (a)
fanci 36
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009655 35
  • 39.46 (n)
  • 25 (a)
fruit fly
(Drosophila melanogaster)
Insecta FANCI 35
  • 40.46 (n)
  • 25.62 (a)
FANCI 36
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
-- 36
  • 34 (a)
OneToMany
Species with no ortholog for FANCI:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FANCI Gene

ENSEMBL:
Gene Tree for FANCI (if available)
TreeFam:
Gene Tree for FANCI (if available)

Paralogs for FANCI Gene

No data available for Paralogs for FANCI Gene

Variants for FANCI Gene

Sequence variations from dbSNP and Humsavar for FANCI Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs718457 -- 89,242,580(-) GGAAT(C/T)CTTTA upstream-variant-2KB
rs976624 -- 89,314,849(+) CCCCC(C/T)ttttt intron-variant
rs1013444 -- 89,309,397(+) TTCAG(C/G)GAGAG intron-variant
rs1013445 -- 89,309,413(+) CATAC(C/T)GTATA intron-variant
rs1137410 -- 89,298,958(+) ctgag(A/G)tcagc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FANCI Gene

Variant ID Type Subtype PubMed ID
nsv833086 CNV Loss 17160897
nsv1657 CNV Loss 18451855
nsv94979 CNV Insertion 16902084

Relevant External Links for FANCI Gene

HapMap Linkage Disequilibrium report
FANCI
Human Gene Mutation Database (HGMD)
FANCI
Locus Specific Mutation Databases (LSDB)
FANCI

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCI Gene

Disorders for FANCI Gene

(1) OMIM Diseases for FANCI Gene (611360)

UniProtKB/Swiss-Prot

FANCI_HUMAN
  • Fanconi anemia complementation group I (FANCI) [MIM:609053]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:17452773}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FANCI Gene

Relevant External Links for FANCI

GeneTests
FANCI
GeneReviews
FANCI
Genetic Association Database (GAD)
FANCI
Human Genome Epidemiology (HuGE) Navigator
FANCI
genes like me logo Genes that share disorders with FANCI: view

Publications for FANCI Gene

  1. FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. (PMID: 17460694) Sims A.E. … Huang T.T. (Nat. Struct. Mol. Biol. 2007) 2 3 4
  2. Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. (PMID: 17412408) Smogorzewska A. … Elledge S.J. (Cell 2007) 2 3 4
  3. Identification of the Fanconi anemia complementation group I gene, FANCI. (PMID: 17452773) Dorsman J.C. … Joenje H. (Cell. Oncol. 2007) 3 4
  4. Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. (PMID: 19111657) Alpi A.F. … Patel K.J. (Mol. Cell 2008) 3 4
  5. Replication stress induces sister-chromatid bridging at fragile site loci in mitosis. (PMID: 19465922) Chan K.L. … Hickson I.D. (Nat. Cell Biol. 2009) 3 4

Products for FANCI Gene

Sources for FANCI Gene

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