Version 5.4
Homo sapiens Gene: FANCI
Summary
InnateDB Gene IDBG-29126.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FANCI
Gene Name Fanconi anemia, complementation group I
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000140525
Encoded Proteins
IDBP-29128
Fanconi anemia, complementation group I
IDBP-29130
Fanconi anemia, complementation group I
IDBP-380090
Fanconi anemia, complementation group I
IDBP-745279
IDBP-746306
IDBP-745982
IDBP-745430
IDBP-746934
IDBP-745391
IDBP-746860
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:89243949-89317261
Strand Forward strand
Band q26.1
Transcripts
ENST00000300027 ENSP00000300027
ENST00000310775 ENSP00000310842
ENST00000447611 ENSP00000413249
ENST00000566895
ENST00000565522
ENST00000568670
ENST00000567891 ENSP00000455735
ENST00000570225 ENSP00000454669
ENST00000564920 ENSP00000456552
ENST00000563250 ENSP00000457029
ENST00000564350
ENST00000564636
ENST00000567996 ENSP00000458024
ENST00000566615
ENST00000565255 ENSP00000454371
ENST00000570110
ENST00000561894 ENSP00000455189
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 44 [view]
Protein-Protein 44 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0070182 DNA polymerase binding
Biological Process
GO:0006281 DNA repair
GO:0007049 cell cycle
GO:0031398 positive regulation of protein ubiquitination
Cellular Component
GO:0005654 nucleoplasm
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000039187
View Gene Order
ENSBTAG00000009097
Not yet available
Pathways
NETPATH
REACTOME
REACT_18265
Regulation of the Fanconi anemia pathway pathway
REACT_18410
Fanconi Anemia pathway pathway
REACT_216
DNA Repair pathway
KEGG
INOH
PID NCI
fanconi_pathway
Fanconi anemia pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.513126
RefSeq NM_001113378 NM_018193
HUGO
OMIM
CCDS CCDS10349 CCDS45346
HPRD 13339
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca