Aliases for FANCI Gene
Aliases for FANCI Gene
External Ids for FANCI Gene
- HGNC: 25568
- Entrez Gene: 55215
- Ensembl: ENSG00000140525
- OMIM: 611360
- UniProtKB: Q9NVI1
Previous HGNC Symbols for FANCI Gene
- KIAA1794
Previous GeneCards Identifiers for FANCI Gene
- GC00U922091
- GC15P087588
- GC15P089787
- GC15P065899
Summaries 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.
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
Regulatory Element Products
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
- Cytogenetic band:
-
- 15q26.1 by Ensembl
- 15q26.1 by Entrez Gene
- 15q26.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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
Other Protein References for FANCI Gene
Antibody Products
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- antibodies-online Antibodies for FANCI: See all 19
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-
Santa Cruz Biotechnology (SCBT) Antibodies for FANCI
Protein Products
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-
Abcam proteins for FANCI
Assay Products
- antibodies-online Kits for FANCI: See all 2
No data available for DME Specific Peptides for FANCI Gene
Domains & Families for FANCI Gene
Gene Families for FANCI Gene
Protein Domains for FANCI Gene
Suggested Antigen Peptide Sequences for FANCI Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NVI1UniProtKB/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.
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.
| 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 |
Phenotypes for FANCI Gene
- MGI mutant phenotypes for FANCI:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FANCI:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased ionizing radiation sensitivity
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Decreased homologous recombination repair frequency
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Models for FANCI Gene
- MGI Knock Outs for FANCI:
-
- Fanci tm1a(EUCOMM)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
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CRISPR Products
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miRNA for FANCI Gene
- miRTarBase miRNAs that target FANCI
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Inhibitory RNA Products
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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.
| 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 |
Pathways & Interactions for FANCI Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fanconi anemia pathway | ||
| 2 | Gene Expression |
.48
|
|
| 3 | DNA Double-Strand Break Repair |
.53
|
|
| 4 | Formation of HIV elongation complex in the absence of HIV Tat | ||
| 5 | Regulation of TP53 Activity | ||
Pathways by source for FANCI Gene
1 BioSystems pathway for FANCI Gene
6 Reactome pathways for FANCI Gene
1 KEGG pathway for FANCI Gene
Interacting Proteins 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 |
No data available for SIGNOR curated interactions for FANCI Gene
Transcripts for FANCI Gene
mRNA/cDNA for FANCI Gene
- (6) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (196) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FANCI Gene
CRISPR Products
-
OriGene CRISPR knockouts for FANCI
-
Santa Cruz Biotechnology (SCBT) CRISPR for FANCI
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miRNA Products
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Inhibitory RNA Products
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-
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Expression for FANCI Gene
mRNA differential expression in normal tissues according to GTEx for FANCI Gene
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:
FANCISOURCE GeneReport for Unigene cluster for FANCI Gene:
Hs.513126Evidence 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
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- neck
- nose
- outer ear
- pituitary gland
- skull
- breast
- esophagus
- heart
- lung
- rib
- rib cage
- intestine
- kidney
- large intestine
- liver
- stomach
- anus
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- ureter
- uterus
- vagina
- vulva
- arm
- digit
- finger
- forearm
- hand
- radius
- upper limb
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for FANCI
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FANCI 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FANCI 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FANCI 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fanci 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fanci 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FANCI 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | FANCI 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | polg 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fanci 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | FANCI 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009655 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany | |
| -- 35 |
|
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)
Paralogs for FANCI Gene
No data available for Paralogs for FANCI Gene
Variants 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 |
| 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 |
Relevant External Links for FANCI Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCI Gene
Disorders for FANCI Gene
(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 a |
|
|
| fanci-related fanconi anemia |
|
|
| esophageal atresia/tracheoesophageal fistula |
|
|
| tracheoesophageal fistula |
|
|
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
No data available for Genatlas for FANCI Gene
Publications for FANCI Gene
- 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
- 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
- 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
- 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
- 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
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FANCI Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
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