FANCA Fanconi anemia, complementation group A [Homo sapiens (human)]
| Gene Symbol | FANCA |
| Entrez Gene ID | 2175 |
| Full Name | Fanconi anemia, complementation group A |
| Synonyms | FA, FA-H, FA1, FAA, FACA, FAH, FANCH, MGC75158 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
16 16q24.3 |
| 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]. |
| Disorder | MIM: 607139 Fanconi anemia, complementation group A, 227650 (3) |
| mRNA | NM_000135, 66880552 |
| Protein | NP_000126, 66880553 |
| Product | Fanconi anemia group A protein isoform a |
| RefSeq Status | REVIEWED |
| mRNA | NM_001018112, 66879665 |
| Protein | NP_001018122, 66879666 |
| Product | Fanconi anemia group A protein isoform b |
| RefSeq Status | REVIEWED |
| bard1pathway | BARD1 signaling events |
Reactome
| REACT_216 | DNA Repair |
| REACT_18410 | Fanconi Anemia pathway |
| Homo sapiens (human) | FANCA | NP_000126.2 |
| Canis lupus familiaris (dog) | FANCA | XP_850915.1 |
| Mus musculus (house mouse) | Fanca | NP_058621.1 |
| Rattus norvegicus (Norway rat) | Fanca | XP_341714.3 |
| Gallus gallus (chicken) | FANCA | XP_414214.2 |
| Danio rerio (zebrafish) | fanca | NP_001035725.1 |
| ID | Name | Evidence |
| GO:0006281 | DNA repair | TAS |
| GO:0006461 | protein complex assembly | TAS |
| GO:0007140 | male meiosis | IEA |
| GO:0008584 | male gonad development | IEA |
| GO:0008585 | female gonad development | IEA |
| GO:0042127 | regulation of cell proliferation | IEA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
| GO:0005654 | nucleoplasm | TAS |
| GO:0005737 | cytoplasm | IEA |
Function
| ID | Name | Evidence |
| GO:0005515 | protein binding | IPI |
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