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Aliases for FAAP100 Gene

Aliases for FAAP100 Gene

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

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

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAAP100 Gene

Genomics for FAAP100 Gene

Regulatory Elements for FAAP100 Gene

Enhancers for FAAP100 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FAAP100 on UCSC Golden Path with GeneCards custom track

Promoters for FAAP100 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAAP100 on UCSC Golden Path with GeneCards custom track

Genomic Location for FAAP100 Gene

Chromosome:
17
Start:
81,539,885 bp from pter
End:
81,553,961 bp from pter
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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15251.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD39037.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAAP100 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAAP100 Gene

Proteomics data for FAAP100 Gene at MOPED

Post-translational modifications for FAAP100 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAAP100 Gene

No data available for DME Specific Peptides for FAAP100 Gene

Domains & Families for FAAP100 Gene

Protein Domains for FAAP100 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAAP100 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families 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.
genes like me logo Genes that share phenotypes with FAAP100: view

Animal Model Products

miRNA for FAAP100 Gene

miRTarBase miRNAs that target FAAP100

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Gene Ontology (GO) - Cellular Components for FAAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with FAAP100: view

No data available for Subcellular locations from COMPARTMENTS for FAAP100 Gene

Pathways & Interactions 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

None

No data available for SIGNOR curated interactions for FAAP100 Gene

Drugs & Compounds for FAAP100 Gene

No Compound Related Data Available

Transcripts for FAAP100 Gene

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

No ASD Table

Relevant External Links for FAAP100 Gene

GeneLoc Exon Structure for
FAAP100
ECgene alternative splicing isoforms for
FAAP100

Expression for FAAP100 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

genes like me logo Genes that share expression patterns with FAAP100: view

In Situ Assay Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
mouse
(Mus musculus)
Mammalia 2310003H01Rik 35
  • 78.21 (n)
  • 73.58 (a)
Faap100 16
2310003H01Rik 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306926 35
  • 77.94 (n)
  • 73.69 (a)
cow
(Bos Taurus)
Mammalia C17orf70 36
  • 73 (a)
OneToOne
C19H17orf70 35
  • 79.96 (n)
  • 74.07 (a)
dog
(Canis familiaris)
Mammalia C17orf70 36
  • 71 (a)
OneToOne
C9H17orf70 35
  • 79.07 (n)
  • 72.79 (a)
oppossum
(Monodelphis domestica)
Mammalia C17orf70 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C17ORF70 36
  • 100 (a)
OneToOne
C17H17orf70 35
  • 99.47 (n)
  • 99.77 (a)
chicken
(Gallus gallus)
Aves C18H17orf70 35
  • 66.16 (n)
  • 57.49 (a)
C18H17orf70 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C17orf70 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488904 35
  • 46.37 (n)
  • 35.38 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-57h18.1 35
  • 45.29 (n)
  • 33.75 (a)
C12H17orf70 36
  • 31 (a)
OneToOne
Species with no ortholog for FAAP100:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for FAAP100 Gene

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

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 from dbSNP and Humsavar for FAAP100 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs11552304 - 81,547,103(+) GTGGC(A/G)GGGCC intron-variant, nc-transcript-variant, reference, missense
rs14422 - 81,541,374(+) CTGGG(C/G/T)GGCCT nc-transcript-variant, reference, missense
rs12257 -- 81,541,353(+) GAGAT(C/T)AGGAG nc-transcript-variant, reference, missense
rs1129359 -- 81,540,567(-) TGTCT(A/C)TCCTT nc-transcript-variant, utr-variant-3-prime
rs2228698 -- 81,541,480(-) CAGCT(A/C)GAGGG intron-variant

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)

Relevant External Links for FAAP100 Gene

HapMap Linkage Disequilibrium report
FAAP100

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FAAP100 Gene

Disorders for FAAP100 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAAP100

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAAP100
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. (EMBO J. 2007) 2 3 4 67
  2. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Modularized functions of the Fanconi anemia core complex. (PMID: 24910428) Huang Y. … Li L. (Cell Rep 2014) 3

Products for FAAP100 Gene

Sources for FAAP100 Gene

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