FAAP24
Fanconi anemia core complex-associated protein 24
Also known as: C19orf40, FAP24_HUMAN, FLJ46828, MGC32020
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BTP7
- Gene
- FAAP24
- Ensembl
- ENSG00000131944
- Chromosome
- 19
- Canonical length
- 215 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles
OverviewNCBI Gene
FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
215 residues, UniProt reviewed canonical sequence.
>Q9BTP7|FAAP24
1 MEKNPPDDTG PVHVPLGHIV ANEKWRGSQL AQEMQGKIKL IFEDGLTPDF YLSNRCCILY
61 VTEADLVAGN GYRKRLVRVR NSNNLKGIVV VEKTRMSEQY FPALQKFTVL DLGMVLLPVA
121 SQMEASCLVI QLVQEQTKEP SKNPLLGKKR ALLLSEPSLL RTVQQIPGVG KVKAPLLLQK
181 FPSIQQLSNA SIGELEQVVG QAVAQQIHAF FTQPRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FAAP24 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 5.4 nTPM
Expression across tissuesHPA
Tissue
- prostate: 5.4 nTPM
- testis: 5.3 nTPM
- tonsil: 3.1 nTPM
- skin: 2.5 nTPM
- bone marrow: 2.4 nTPM
- lymph node: 2.4 nTPM
Single-cell type
- late primary spermatocytes: 42 nCPM
- extravillous trophoblasts: 20 nCPM
- late spermatids: 18 nCPM
- cytotrophoblasts: 15 nCPM
- oocytes: 14 nCPM
- migrating cytotrophoblasts: 13 nCPM
Immune cell
- basophil: 12 nTPM
- neutrophil: 12 nTPM
- eosinophil: 7.9 nTPM
- non-classical monocyte: 6.6 nTPM
- plasmacytoid DC: 6.5 nTPM
- intermediate monocyte: 6.3 nTPM
Brain region
- white matter: 8.9 nTPM
- medulla oblongata: 7.5 nTPM
- cerebral cortex: 7.2 nTPM
- choroid plexus: 6.9 nTPM
- cerebellum: 6.8 nTPM
- pons: 6.5 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.81
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.32
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- RuvA domain 2-like
- Fanconi anemia-associated protein of 24kDa
- Fanconi anemia core complex-associated protein 24, pseudonuclease domain
- DisA/LigA, helix-hairpin-helix motif
- Helix-hairpin-helix motif
- FANCM pseudonuclease domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FAAP24 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FAAP24 as an antibody target. Whether an autoantibody or antibody against FAAP24 could matter depends on whether native FAAP24 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FAAP24 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FAAP24 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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