FAAP100: Fanconi Anemia Core Complex Associated Protein 100
Essential component of the Fanconi anemia DNA repair pathway
Gene Information Card
| Symbol | FAAP100 |
|---|---|
| Full Name | Fanconi Anemia Core Complex Associated Protein 100 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 80233 ncbi.nlm.nih.gov/gene/80233 |
| Ensembl ID | ENSG00000196591 |
| UniProt ID | Q8N6M0 |
| OMIM ID | 617180 |
| HGNC ID | 26119 |
| Aliases | C17orf70, FAAP100, FAAP100 (Fanconi anemia associated protein 100) |
Description
FAAP100 encodes a protein that is a core component of the Fanconi anemia (FA) nuclear core complex. This complex is required for the monoubiquitination of FANCD2 and FANCI, a key step in the DNA interstrand crosslink (ICL) repair pathway. FAAP100 stabilizes the core complex and is essential for its assembly and function. Biallelic mutations in FAAP100 cause Fanconi anemia complementation group FA-P100, characterized by bone marrow failure, developmental abnormalities, and cancer predisposition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group FA-P100 | Loss-of-function mutations in FAAP100 disrupt the FA core complex, impairing FANCD2 monoubiquitination and ICL repair | OMIM #617180; PMID: 25933984 |
| Fanconi anemia (general) | Defective FA pathway due to FAAP100 deficiency leads to genomic instability and hypersensitivity to DNA crosslinking agents | OMIM #227650; PMID: 25933984 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Testis | 15.3 | Medium |
| Lymph node | 10.8 | Medium |
| Spleen | 9.7 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| K562 | 11.0 | Medium expression |
| HepG2 | 8.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of protein expression; causes FA-P100 |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature truncation; loss of function |
| c.502_503del (p.Leu168Glufs*2) | Frameshift deletion | Rare | Frameshift and premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in FAAP100 cause Fanconi anemia complementation group FA-P100 by disrupting FA core complex assembly and FANCD2 monoubiquitination.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • interstrand crosslink repair |
| • Fanconi anemia core complex | • protein monoubiquitination |
| • nucleus |
Pathways
• Fanconi anemia pathway (KEGG hsa03460)
• DNA interstrand crosslink repair (Reactome R-HSA-6783310)
Protein Summary
FAAP100 is a 100 kDa protein that localizes to the nucleus and is a stoichiometric component of the Fanconi anemia core complex, which includes FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, and FAAP20. It is required for the E3 ubiquitin ligase activity of the complex that monoubiquitinates FANCD2 and FANCI. Without FAAP100, the core complex is unstable and unable to function, leading to defective DNA repair and cellular sensitivity to crosslinking agents.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAAP100 Knockout HEK293 Cell Line | EDJ-KQ9497 | Human | 80233 | Details Get a Quote |
| FAAP100 Knockout A-549 Cell Line | EDJ-KQ36235 | Human | 80233 | Details Get a Quote |
| FAAP100 Knockout HCT 116 Cell Line | EDJ-KQ36236 | Human | 80233 | Details Get a Quote |
| FAAP100 Knockout HeLa Cell Line | EDJ-KQ36237 | Human | 80233 | Details Get a Quote |
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