Sequence in raw or FASTA format:
FANCA Fanconi anemia, complementation group A [Homo sapiens (human)]
|Entrez Gene ID||2175|
|Full Name||Fanconi anemia, complementation group A|
|Synonyms||FA, FA-H, FA1, FAA, FACA, FAH, FANCH|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Fanconi anemia, complementation group A, 227650 (3)
|hsa03460||Fanconi anemia pathway|
|hsa_M00413||FA core complex|
|bard1pathway||BARD1 signaling events|
|REACT_18410||Fanconi Anemia pathway|
|Homo sapiens (human)||FANCA||NP_000126.2|
|Pan troglodytes (chimpanzee)||FANCA||XP_003315314.2|
|Canis lupus familiaris (dog)||FANCA||XP_850915.2|
|Bos taurus (cattle)||FANCA||NP_001193532.1|
|Mus musculus (house mouse)||Fanca||NP_058621.2|
|Rattus norvegicus (Norway rat)||Fanca||NP_001101925.1|
|Gallus gallus (chicken)||FANCA||NP_001127831.1|
|Danio rerio (zebrafish)||fanca||NP_001035725.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||fanca||XP_002933731.2|
|GO:0006461||protein complex assembly||TAS|
|GO:0008584||male gonad development||IEA|
|GO:0008585||female gonad development||IEA|
|GO:0042127||regulation of cell proliferation||IEA|
|GO:0043240||Fanconi anaemia nuclear complex||IDA|
What is the normal function of the FANCA gene?
The FANCA gene provides instructions for making a protein that is involved in a cell process known as the Fanconi anemia (FA) pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs.
The FANCA protein is one of a group of proteins known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCA) and two proteins called Fanconi anemia-associated proteins (FAAPs). This complex activates two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of these two proteins, which attach (bind) together to form the ID protein complex, attract DNA repair proteins to the area of DNA damage so the error can be corrected and DNA replication can continue.
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