FANCA
FANCA 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]
Details
| Type | Protein Coding |
| Official Symbol | FANCA |
| Official Name | FA complementation group A [Source:HGNC Symbol;Acc:HGNC:3582] |
| Ensembl ID | ENSG00000187741 |
| Bio databases IDs | |
| Aliases | FA complementation group A |
| Synonyms | FA,FA1,FAA,FACA,FA complementation group A,FA-H,FANCH,Fanconi anaemia, complementation group A,Fanconi anemia, complementation group A,LOC103690042 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- fancg binding domain
- Fanconi anaemia group A protein
- partial leucine zipper motif
- nuclear localization sequence
- leucine zipper domain
- protein binding
- Fanconi anaemia group A protein N terminus
Pathways
Biological processes and signaling networks where the FANCA gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- CHRM4
- FANCG
- FANCE
- IGHM
- FAAP20
- LOXL3
- CENPX
- FANCB
- FANCL
- BLM
disease
- neonatal late-onset sepsis
- epithelial cancer
- cancer
- Fanconi anemia, group A
- Fanconi anemia
- metastasis
- schizophrenia
- hereditary disorder
- epithelial basal cell carcinoma
- esophageal squamous cell carcinoma
regulated by
- etoposide
- dexamethasone
- TP63
- 26S proteasome
- tanespimycin
- ficusin
- RB1
- CSF2
- filgrastim
- IFNA2
regulates
- JNK
- ATM
- RAD51
- BRCA2
- TNF
- PALB2
- IL1B
- HES1
- NFkB (complex)
- CDKN1A
role in cell
- activation in
- accumulation in
- apoptosis
- expression in
- proliferation
- growth
- cell viability
- survival
- formation
- formation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- chromatin fraction
- membrane fraction
- Cytoplasm
- cytosol
- nucleoplasm
- nuclear matrix
- chromatin
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the FANCA gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- DNA repair
- male gonad development
- macromolecular complex assembly
- male meiosis
- regulation of inflammatory response
- regulation of regulatory T cell differentiation
- female gonad development
- regulation of CD40 signaling pathway
CELLULAR COMPONENT
Where in the cell the gene product is active
- nucleus
- Fanconi anaemia nuclear complex
- cytoplasm
- cytosol
- chromatin
- nucleoplasm
MOLECULAR FUNCTION
What the gene product does at the molecular level
- protein binding