Seroatlas · Human Serome Atlas

FAAP100

Fanconi anemia core complex-associated protein 100

Also known as: C17orf70, FLJ22175, FP100_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q0VG06
Gene: FAAP100
Ensembl: ENSG00000185504
Chromosome: 17
Canonical length: 881 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

881 residues, UniProt reviewed canonical sequence.

>Q0VG06|FAAP100
     1  MAGAAPRVRY LAGFCCPLGG LAAGKPRVLC HEAEVFLSTG SELVYVYDQE GGLLTAAFRF
    61  PDQVWHLELL APRRLLYALC ARRGLYCLSL DHPGRSRSTS QDDRDSEDGD QPSPVIPVDP
   121  DACILPDAAL CAFTLLDSVL VTLVQGPARW KMQLFEQPCP GEDPRPGGQI GEVELSSYTP
   181  PAGVPGKPAA PHFLPVLCSV SPSGSRVPHD LLGGSGGFTL EDALFGLLFG ADATLLQSPV
   241  VLCGLPDGQL CCVILKALVT SRSAPGDPNA LVKILHHLEE PVIFIGALKT EPQAAEAAEN
   301  FLPDEDVHCD CLVAFGHHGR MLAIKASWDE SGKLVPELRE YCLPGPVLCA ACGGGGRVYH
   361  STPSDLCVVD LSRGSTPLGP EQPEEGPGGL PPMLCPASLN ICSVVSLSAS PRTHEGGTKL
   421  LALSAKGRLM TCSLDLDSEM PGPARMTTES AGQKIKELLS GIGNISERVS FLKKAVDQRN
   481  KALTSLNEAM NVSCALLSSG TGPRPISCTT STTWSRLQTQ DVLMATCVLE NSSSFSLDQG
   541  WTLCIQVLTS SCALDLDSAC SAITYTIPVD QLGPGARREV TLPLGPGENG GLDLPVTVSC
   601  TLFYSLREVV GGALAPSDSE DPFLDECPSD VLPEQEGVCL PLSRHTVDML QCLRFPGLAP
   661  PHTRAPSPLG PTRDPVATFL ETCREPGSQP AGPASLRAEY LPPSVASIKV SAELLRAALK
   721  DGHSGVPLCC ATLQWLLAEN AAVDVVRARA LSSIQGVAPD GANVHLIVRE VAMTDLCPAG
   781  PIQAVEIQVE SSSLADICRA HHAVVGRMQT MVTEQATQGS SAPDLRVQYL RQIHANHETL
   841  LREVQTLRDR LCTEDEASSC ATAQRLLQVY RQLRHPSLIL L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAAP100 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): 0.33
Highest tissue expression: 48 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 48 nTPM
spleen: 37 nTPM
pancreas: 25 nTPM
kidney: 24 nTPM
thyroid gland: 23 nTPM
liver: 22 nTPM

Single-cell type

tuft cells: 23 nCPM
proximal tubule cells: 19 nCPM
megakaryocytes: 19 nCPM
foveolar cells: 17 nCPM
mucous neck cells: 17 nCPM
parietal cells: 16 nCPM

Immune cell

plasmacytoid DC: 3.2 nTPM
classical monocyte: 3 nTPM
memory B-cell: 3 nTPM
myeloid DC: 2.9 nTPM
intermediate monocyte: 2.8 nTPM
gdT-cell: 2.4 nTPM

Brain region

cerebellum: 34 nTPM
white matter: 21 nTPM
medulla oblongata: 20 nTPM
thalamus: 19 nTPM
cerebral cortex: 19 nTPM
choroid plexus: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAAP100.

Disease | AllUniProt

Conditions FAAP100 is implicated in, by any mechanism.

Fanconi anemia, complementation group X (FANCX) MIM:621258

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 177 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Fanconi anemia, complementation group 10

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): 0.74
gnomAD pLI: 0
DepMap mean gene effect: -0.35
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

interstrand cross-link repair

Molecular functions

DNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Fanconi anemia-associated protein of 100kDa
Fanconi anemia-associated

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FAAP100 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 FAAP100 as an antibody target. Whether an autoantibody or antibody against FAAP100 could matter depends on whether native FAAP100 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAAP100 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 FAAP100 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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