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 instab... See more...

Aliases for FANCI Gene

Aliases for FANCI Gene

  • FA Complementation Group I 2 3 5
  • KIAA1794 2 3 4
  • Fanconi Anemia Complementation Group I 2 3
  • Fanconi Anemia Group I Protein 3 4
  • Protein FACI 4
  • FLJ10719 2
  • FANCI 5

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 (FA 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 DNA Double-Strand Break Repair and Gastric Cancer Network 2. Gene Ontology (GO) annotations related to this gene include DNA polymerase binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for FANCI Gene

Genomics for FANCI Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FANCI Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FANCI on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FANCI

Top Transcription factor binding sites by QIAGEN in the FANCI gene promoter:
  • aMEF-2
  • ATF6
  • Elk-1
  • MEF-2A
  • NRF-2
  • Roaz
  • Sox5
  • Sox9
  • ZID

Genomic Locations for FANCI Gene

Latest Assembly
chr15:89,243,945-89,317,261
(GRCh38/hg38)
Size:
73,317 bases
Orientation:
Plus strand

Previous Assembly
chr15:89,787,210-89,860,490
(GRCh37/hg19 by Entrez Gene)
Size:
73,281 bases
Orientation:
Plus strand

chr15:89,787,180-89,860,492
(GRCh37/hg19 by Ensembl)
Size:
73,313 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91770.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55200.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FANCI Gene

    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, Lys41, Lys52, Lys331, Lys339, Lys348, Lys402, Lys431, Lys501, Lys523, Lys638, Lys715, Lys799, Lys902, Lys849, Lys854, Lys926, Lys939, Lys1199, Lys1221, and Lys1232
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FANCI Gene

Suggested Antigen Peptide Sequences for FANCI Gene

GenScript: Design optimal peptide antigens:
  • Fanconi anemia, complementation group I (B7ZMF2_HUMAN)
  • Fanconi anemia group I protein (FANCI_HUMAN)

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.

Phenotypes From GWAS Catalog for FANCI Gene

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 IBA,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:
  • Fanci Fanci<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCI

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. Cytoplasm. 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 3
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005737 cytoplasm IDA 18445686
GO:0005829 cytosol IDA --
GO:0016020 membrane HDA 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

SIGNOR curated interactions for FANCI Gene

Is activated by:
Is inactivated by:
Other effect:

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:0031398 positive regulation of protein ubiquitination IDA 18029348
GO:0036297 interstrand cross-link repair TAS --
genes like me logo Genes that share ontologies with FANCI: view

Drugs & Compounds for FANCI Gene

No Compound Related Data Available

Transcripts for FANCI Gene

mRNA/cDNA for FANCI Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCI

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

No ASD Table

Relevant External Links for FANCI Gene

GeneLoc Exon Structure for
FANCI

Expression for FANCI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FANCI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for FANCI Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FANCI

SOURCE GeneReport for Unigene cluster for FANCI Gene:

Hs.513126

Evidence on tissue expression from TISSUES for FANCI Gene

  • Skin(4.4)
  • Nervous system(4.3)
  • Blood(2.4)
  • Bone marrow(2.4)
  • Intestine(2.2)

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
Regions:
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 for research

No data available for 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 29 30
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FANCI 29 30
  • 89.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FANCI 29 30
  • 87.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fanci 29 16 30
  • 83.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fanci 29
  • 82.66 (n)
Oppossum
(Monodelphis domestica)
Mammalia FANCI 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 70 (a)
OneToMany
-- 30
  • 67 (a)
OneToMany
Chicken
(Gallus gallus)
Aves FANCI 29 30
  • 69.01 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 67 (a)
OneToMany
-- 30
  • 66 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia polg 29
  • 66.95 (n)
Zebrafish
(Danio rerio)
Actinopterygii fanci 29 30
  • 62.51 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta FANCI 29 30
  • 40.46 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009655 29
  • 39.46 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 34 (a)
OneToMany
-- 30
  • 24 (a)
OneToMany
Species where no ortholog for FANCI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FANCI: view image
Alliance of Genome Resources:
Additional Orthologs for FANCI

Paralogs for FANCI Gene

No data available for Paralogs for FANCI Gene

Variants for FANCI Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FANCI Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1000237 Uncertain Significance: Fanconi anemia 89,268,478(+) A/G
NM_001113378.2(FANCI):c.835A>G (p.Ile279Val)
MISSENSE
1001292 Uncertain Significance: Fanconi anemia 89,260,776(+) A/T
NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1001966 Uncertain Significance: Fanconi anemia 89,258,708(+) C/T
NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1002544 Uncertain Significance: Fanconi anemia 89,305,248(+) A/G
NM_001113378.2(FANCI):c.3186+6A>G
INTRON
1003003 Uncertain Significance: Fanconi anemia 89,314,700(+) A/G
NM_001113378.2(FANCI):c.3809A>G (p.Lys1270Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FANCI Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for FANCI Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for FANCI Gene

MalaCards: The human disease database

(30) MalaCards diseases for FANCI Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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 variants affecting the gene represented in this entry.

Additional Disease Information for FANCI

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FANCI: view

No data available for Genatlas for FANCI Gene

Publications for FANCI Gene

  1. FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. (PMID: 17460694) Sims AE … Huang TT (Nature structural & molecular biology 2007) 2 3 4 72
  2. Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. (PMID: 17412408) Smogorzewska A … Elledge SJ (Cell 2007) 2 3 4
  3. Identification of the Fanconi anemia complementation group I gene, FANCI. (PMID: 17452773) Dorsman JC … Joenje H (Cellular oncology : the official journal of the International Society for Cellular Oncology 2007) 3 4 72
  4. Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway. (PMID: 21775430) Hodson C … Walden H (The Journal of biological chemistry 2011) 3 4
  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

Products for FANCI Gene

Sources for FANCI Gene