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] See more...

Aliases for FAAP100 Gene

Aliases for FAAP100 Gene

  • FA Core Complex Associated Protein 100 2 3 5
  • Fanconi Anemia Core Complex Associated Protein 100 2 3
  • Fanconi Anemia Core Complex-Associated Protein 100 3 4
  • Fanconi Anemia-Associated Protein Of 100 KDa 3 4
  • Fanconi Anemia-Associated Protein, 100kDa 2 3
  • C17orf70 3 4
  • Fanconi Anemia Associated Protein 100 KDa Subunit 3
  • Fanconi Anemia Core Complex 100 KDa Subunit 3
  • Chromosome 17 Open Reading Frame 70 2
  • FLJ22175 2
  • FAAP100 5

External Ids for FAAP100 Gene

Previous HGNC Symbols for FAAP100 Gene

  • C17orf70

Summaries for FAAP100 Gene

Entrez Gene Summary for FAAP100 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]

GeneCards Summary for FAAP100 Gene

FAAP100 (FA Core Complex Associated Protein 100) is a Protein Coding gene. Diseases associated with FAAP100 include Fanconi Anemia, Complementation Group T and Fanconi Anemia, Complementation Group N. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair.

UniProtKB/Swiss-Prot Summary for FAAP100 Gene

  • Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed.

Additional gene information for FAAP100 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAAP100 Gene

Genomics for FAAP100 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAAP100 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAAP100 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAAP100

Genomic Locations for FAAP100 Gene

Genomic Locations for FAAP100 Gene
chr17:81,539,885-81,553,961
(GRCh38/hg38)
Size:
14,077 bases
Orientation:
Minus strand
chr17:79,506,911-79,520,987
(GRCh37/hg19)
Size:
14,077 bases
Orientation:
Minus strand

Genomic View for FAAP100 Gene

Genes around FAAP100 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAAP100 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAAP100 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAAP100 Gene

Proteins for FAAP100 Gene

  • Protein details for FAAP100 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0VG06-FP100_HUMAN
    Recommended name:
    Fanconi anemia core complex-associated protein 100
    Protein Accession:
    Q0VG06
    Secondary Accessions:
    • A6NNM1
    • Q8N3F7
    • Q9BV13
    • Q9H6K7
    • Q9H7E8

    Protein attributes for FAAP100 Gene

    Size:
    881 amino acids
    Molecular mass:
    93433 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and FAAP100. Forms a subcomplex with FANCB and FANCL.
    SequenceCaution:
    • Sequence=AAH21968.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15251.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAD39037.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAAP100 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAAP100 Gene

Post-translational modifications for FAAP100 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAAP100 Gene

Domains & Families for FAAP100 Gene

Gene Families for FAAP100 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAAP100 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAAP100 Gene

GenScript: Design optimal peptide antigens:
  • Fanconi anemia-associated protein of 100 kDa (FP100_HUMAN)
genes like me logo Genes that share domains with FAAP100: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FAAP100 Gene

Function for FAAP100 Gene

Molecular function for FAAP100 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed.

Phenotypes From GWAS Catalog for FAAP100 Gene

Gene Ontology (GO) - Molecular Function for FAAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 17396147
genes like me logo Genes that share ontologies with FAAP100: view
genes like me logo Genes that share phenotypes with FAAP100: view

Animal Model Products

CRISPR Products

miRNA for FAAP100 Gene

miRTarBase miRNAs that target FAAP100

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAAP100

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAAP100 Gene

Localization for FAAP100 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAAP100 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAAP100 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0043240 Fanconi anaemia nuclear complex IEA --
genes like me logo Genes that share ontologies with FAAP100: view

Pathways & Interactions for FAAP100 Gene

PathCards logo

SuperPathways for FAAP100 Gene

genes like me logo Genes that share pathways with FAAP100: view

Pathways by source for FAAP100 Gene

2 Reactome pathways for FAAP100 Gene
1 KEGG pathway for FAAP100 Gene

Gene Ontology (GO) - Biological Process for FAAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0036297 interstrand cross-link repair IEA,TAS --
genes like me logo Genes that share ontologies with FAAP100: view

No data available for SIGNOR curated interactions for FAAP100 Gene

Drugs & Compounds for FAAP100 Gene

No Compound Related Data Available

Transcripts for FAAP100 Gene

mRNA/cDNA for FAAP100 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAAP100

Alternative Splicing Database (ASD) splice patterns (SP) for FAAP100 Gene

No ASD Table

Relevant External Links for FAAP100 Gene

GeneLoc Exon Structure for
FAAP100

Expression for FAAP100 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAAP100

Evidence on tissue expression from TISSUES for FAAP100 Gene

  • Nervous system(4.7)
  • Blood(4.3)
  • Liver(4.2)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with FAAP100: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAAP100 Gene

Orthologs for FAAP100 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAAP100 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C17ORF70 31
  • 100 (a)
OneToOne
C17H17orf70 30
  • 99.47 (n)
Cow
(Bos Taurus)
Mammalia C19H17orf70 30
  • 79.96 (n)
C17orf70 31
  • 73 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C9H17orf70 30
  • 79.07 (n)
C17orf70 31
  • 71 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 2310003H01Rik 30 31
  • 78.21 (n)
OneToOne
Faap100 17
Rat
(Rattus norvegicus)
Mammalia RGD1306926 30
  • 77.94 (n)
Oppossum
(Monodelphis domestica)
Mammalia C17orf70 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C18H17orf70 30 31
  • 66.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C17orf70 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488904 30
  • 46.37 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-57h18.1 30
  • 45.29 (n)
C12H17orf70 31
  • 31 (a)
OneToOne
Species where no ortholog for FAAP100 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FAAP100 Gene

ENSEMBL:
Gene Tree for FAAP100 (if available)
TreeFam:
Gene Tree for FAAP100 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAAP100: view image

Paralogs for FAAP100 Gene

(1) SIMAP similar genes for FAAP100 Gene using alignment to 1 proteins:

  • FP100_HUMAN
genes like me logo Genes that share paralogs with FAAP100: view

No data available for Paralogs for FAAP100 Gene

Variants for FAAP100 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAAP100 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs11552304 - p.Pro660Leu
rs14422 - p.Thr817Ala

Additional dbSNP identifiers (rs#s) for FAAP100 Gene

Structural Variations from Database of Genomic Variants (DGV) for FAAP100 Gene

Variant ID Type Subtype PubMed ID
esv26223 CNV gain+loss 19812545
nsv2164 CNV insertion 18451855
nsv428351 CNV gain 18775914
nsv470620 CNV loss 18288195
nsv576182 CNV loss 21841781
nsv828128 CNV loss 20364138
nsv833567 CNV loss 17160897
nsv833568 CNV loss 17160897
nsv952389 CNV deletion 24416366

Variation tolerance for FAAP100 Gene

Residual Variation Intolerance Score: 50.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.43; 63.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAAP100 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAAP100

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAAP100 Gene

Disorders for FAAP100 Gene

MalaCards: The human disease database

(9) MalaCards diseases for FAAP100 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with FAAP100: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAAP100 Gene

Publications for FAAP100 Gene

  1. FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. (PMID: 17396147) Ling C … Wang W (The EMBO journal 2007) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. (PMID: 30631154) Hu Q … Yang L (Cell research 2019) 3
  5. DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. (PMID: 29656893) Gupta R … Choudhary C (Cell 2018) 3

Products for FAAP100 Gene

  • Signalway Proteins for FAAP100

Sources for FAAP100 Gene