Homo sapiens Gene: FANCA
Summary
InnateDB Gene IDBG-48213.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FANCA
Gene Name Fanconi anemia, complementation group A
Synonyms FA; FA-H; FA1; FAA; FACA; FAH; FANCH;
Species Homo sapiens
Ensembl Gene ENSG00000187741
Encoded Proteins
Fanconi anemia, complementation group A
Fanconi anemia, complementation group A
Fanconi anemia, complementation group A
Fanconi anemia, complementation group A
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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:89737549-89816657
Strand Reverse strand
Band q24.3
Transcripts
ENST00000305699
ENST00000389301 ENSP00000373952
ENST00000389302 ENSP00000373953
ENST00000534992 ENSP00000443675
ENST00000543736 ENSP00000443409
ENST00000562424
ENST00000567621 ENSP00000456762
ENST00000568983
ENST00000568626 ENSP00000455974
ENST00000566889
ENST00000561667
ENST00000567510 ENSP00000455969
ENST00000568369 ENSP00000456829
ENST00000564870 ENSP00000456481
ENST00000561722 ENSP00000456608
ENST00000561660 ENSP00000456588
ENST00000563673 ENSP00000456443
ENST00000563513 ENSP00000455946
ENST00000563767
ENST00000565582 ENSP00000456722
ENST00000563318 ENSP00000457970
ENST00000567284
ENST00000567988 ENSP00000454217
ENST00000563510 ENSP00000456993
ENST00000567943 ENSP00000455941
ENST00000566409 ENSP00000457647
ENST00000564475 ENSP00000454977
ENST00000567879 ENSP00000457006
ENST00000566133
ENST00000564969
ENST00000567883
ENST00000567205 ENSP00000457027
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 95 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 95 [view]
Protein-Protein 95 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006281 DNA repair
GO:0006461 protein complex assembly
GO:0007140 male meiosis
GO:0008584 male gonad development
GO:0008585 female gonad development
GO:0042127 regulation of cell proliferation
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0043240 Fanconi anaemia nuclear complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Fanconi Anemia pathway pathway
DNA Repair pathway
KEGG
INOH
PID BIOCARTA
Brca1 dependent ub ligase activity [Biocarta view]
Role of brca1 brca2 and atr in cancer susceptibility [Biocarta view]
PID NCI
Fanconi anemia pathway
BARD1 signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 2175
UniGene Hs.290154
RefSeq NM_000135 NM_001018112 NM_001286167 XM_005256294
HUGO HGNC:3582
OMIM 607139
CCDS CCDS32515 CCDS42221 CCDS67099
HPRD 06186
IMGT
EMBL
GenPept
RNA Seq Atlas 2175