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Aliases for FANCI Gene

Aliases for FANCI Gene

  • Fanconi Anemia Complementation Group I 2 3 5
  • KIAA1794 2 3 4
  • 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 Fanconi Anemia, Complementation Group A. Among its related pathways are Fanconi anemia pathway and Gene Expression. GO annotations related to this gene include DNA polymerase binding.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCI Gene

Genomics for FANCI Gene

Regulatory Elements for FANCI Gene

Enhancers for FANCI Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G089206 1.5 Ensembl ENCODE dbSUPER 11.8 -36.8 -36825 0.7 HDGF PKNOX1 ATF1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 FANCI POLG GC15M089207 GC15P089214
GH15G089196 1.4 Ensembl ENCODE dbSUPER 11.3 -46.3 -46284 1.5 RB1 NFIB INSM2 RAD21 ZNF366 SCRT2 ZNF143 ZNF654 HCFC1 CEBPB POLG RLBP1 FANCI RNU7-195P GC15P089197 GC15P089200 PIR60733
GH15G089165 1.4 Ensembl ENCODE dbSUPER 10.5 -76.5 -76529 4.0 FOXA2 SIN3A GATA2 EGR1 ZNF366 SCRT2 FOS ETV6 IKZF2 CREM ABHD2 RNU7-195P FANCI POLG PIR48171 GC15P089156
GH15G089057 1.2 Ensembl ENCODE 10.8 -186.2 -186248 0.6 ARNT ARID4B SIN3A ZNF2 GLIS2 ZNF143 KLF13 DEK REST PPARG ABHD2 RNU7-195P FANCI RLBP1 ENSG00000261407 GC15M089074 LOC102724566
GH15G089051 1.1 FANTOM5 Ensembl ENCODE 10.8 -191.5 -191458 2.2 PAF1 ZSCAN5C FOS CEBPG RNU7-195P HAPLN3 RLBP1 FANCI LOC102724566 ENSG00000261407 GC15M089074
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FANCI on UCSC Golden Path with GeneCards custom track

Promoters for FANCI Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080896 352 2201 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9

Genomic Location for FANCI Gene

Chromosome:
15
Start:
89,243,948 bp from pter
End:
89,317,261 bp from pter
Size:
73,314 bases
Orientation:
Plus strand

Genomic View for FANCI Gene

Genes around FANCI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:17412408, PubMed:17460694, PubMed:20603015, PubMed:21775430). Interacts with POLN (PubMed:19995904).
    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

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 Lys4, Lys12, Lys16, Lys39, isoforms=2, 3, 441, Lys52, Lys331, isoforms=2, 3339, isoforms=2, 3348, isoforms=2, 3402, Lys431, Lys501, Lys523, isoforms=2, 3638, Lys715, Lys799, isoforms=2, 3842, Lys866, Lys879, isoforms=2, 31139, Lys1161, Lys1172, isoforms=849, and Lys854
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for FANCI
  • Santa Cruz Biotechnology (SCBT) Antibodies for FANCI

No data available for DME Specific Peptides for FANCI Gene

Domains & Families for FANCI Gene

Gene Families for FANCI Gene

Suggested Antigen Peptide Sequences for FANCI Gene

Graphical View of Domain Structure for InterPro Entry

Q9NVI1

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for FANCI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FANCI Gene

MGI Knock Outs for FANCI:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FANCI gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for FANCI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with FANCI: view

Pathways & Interactions for FANCI Gene

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

Pathways by source for FANCI Gene

Gene Ontology (GO) - Biological Process for FANCI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
GO:0007095 mitotic G2 DNA damage checkpoint IBA --
GO:0031398 positive regulation of protein ubiquitination IDA 18029348
genes like me logo Genes that share ontologies with FANCI: view

No data available for SIGNOR curated interactions for FANCI Gene

Transcripts for FANCI Gene

Unigene Clusters for FANCI Gene

Fanconi anemia, complementation group I:
Representative Sequences:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for FANCI Gene

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

This gene is overexpressed in Testis (x6.0).

Protein differential expression in normal tissues from HIPED for FANCI Gene

This gene is overexpressed in Bone (43.7) and Fetal ovary (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FANCI Gene



NURSA nuclear receptor signaling pathways regulating expression of FANCI Gene:

FANCI

SOURCE GeneReport for Unigene cluster for FANCI Gene:

Hs.513126

Evidence on tissue expression from TISSUES for FANCI Gene

  • Skin(4.1)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCI Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FANCI: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners 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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia FANCI 34 35
  • 89.87 (n)
cow
(Bos Taurus)
Mammalia FANCI 34 35
  • 87.8 (n)
mouse
(Mus musculus)
Mammalia Fanci 34 16 35
  • 83.03 (n)
rat
(Rattus norvegicus)
Mammalia Fanci 34
  • 82.66 (n)
oppossum
(Monodelphis domestica)
Mammalia FANCI 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 70 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves FANCI 34 35
  • 69.01 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 67 (a)
OneToMany
-- 35
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia polg 34
  • 66.95 (n)
zebrafish
(Danio rerio)
Actinopterygii fanci 34 35
  • 62.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta FANCI 34 35
  • 40.46 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009655 34
  • 39.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
-- 35
  • 24 (a)
OneToMany
Species where no ortholog for FANCI was found in the sources mined by GeneCards:
  • 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
rs121918163 Pathogenic, Fanconi anemia complementation group I (FANCI) [MIM:609053] 89,315,319(+) CTCAC(A/G)AGACT reference, missense
rs62020347 Likely benign, Fanconi anemia complementation group I (FANCI) [MIM:609053] 89,260,719(+) TTCCC(C/T)CTGCT reference, missense, utr-variant-5-prime
VAR_032691 Fanconi anemia complementation group I (FANCI) [MIM:609053]
rs113994100 Pathogenic 89,317,531(-) GTGCA(C/G/T)GTTTG downstream-variant-500B, reference, missense
rs113994101 Pathogenic 89,317,388(-) GATAC(-/C)GGGAT downstream-variant-500B, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv3552823 CNV deletion 23714750
esv3637189 CNV loss 21293372
nsv1038140 CNV gain 25217958
nsv1657 CNV deletion 18451855
nsv481070 CNV novel sequence insertion 20440878
nsv833086 CNV loss 17160897
nsv94979 CNV insertion 16902084

Variation tolerance for FANCI Gene

Residual Variation Intolerance Score: 15.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.45; 98.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FANCI Gene

Human Gene Mutation Database (HGMD)
FANCI
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANCI

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

Disorders for FANCI Gene

MalaCards: The human disease database

(6) MalaCards diseases for FANCI Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group i
  • fanconi anemia complementation group i
fanconi anemia, complementation group a
  • fanconi's anemia
fanci-related fanconi anemia
esophageal atresia/tracheoesophageal fistula
  • esophageal atresia and/or tracheoesophageal fistula
tracheoesophageal fistula
  • te fistula
- elite association - COSMIC cancer census association via MalaCards
Search FANCI in MalaCards View complete list of genes associated with diseases

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:17412408, ECO:0000269 PubMed:17452773, ECO:0000269 PubMed:17460694}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FANCI

Genetic Association Database (GAD)
FANCI
Human Genome Epidemiology (HuGE) Navigator
FANCI
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FANCI
genes like me logo Genes that share disorders with FANCI: view

No data available for Genatlas for FANCI Gene

Publications for FANCI Gene

  1. 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 64
  2. 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 64
  3. Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway. (PMID: 21775430) Hodson C. … Walden H. (J. Biol. Chem. 2011) 3 4 64
  4. DNA polymerase POLN participates in cross-link repair and homologous recombination. (PMID: 19995904) Moldovan G.L. … D'Andrea A.D. (Mol. Cell. Biol. 2010) 3 4 64
  5. Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2. (PMID: 20603015) MacKay C. … Rouse J. (Cell 2010) 3 4 64

Products for FANCI Gene

Sources for FANCI Gene

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