Selected-GenAtlas references SOURCE GeneCards NCBI Gene Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol FAAP100 contributors: mct/npt - updated : 12-09-2009
HGNC name chromosome 17 open reading frame 70
HGNC id 26171
Location 17q25.3      Physical location : -
Synonym name
  • Fanconi anemia core complex 100 kDa subunit
  • Fanconi anemia associated protein 100 kDa subunit
  • Synonym symbol(s) FLJ22175, FLJ30151, C17orf70
    DNA
    TYPE like-sequence
    STRUCTURE 12.51 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3655 - 881 - Ling (2007)
    9 - 3866 - 730 - Ling (2007)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemovary  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a putative coiled-coil domain that could mediate protein-protein interactions by either homodimerization or heterodimerization
  • HOMOLOGY
    Homologene
    FAMILY
  • Fanconi anemia core complex family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing an essential role for the stability of the core complex, and for the monoubiquitination of FANCD2
  • essential component of the FA-BRCA-associated DNA damage response network
  • having a function in transcriptional regulation, through two mechanisms: one involving direct binding of the FA complex to the HES1 promoter, and another in which the FA complex prevents HES1 from interacting with its co-repressor TLE, Transducin-like Enhancer of split (Tremblay 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of Fanconi complex, FA-BRCA DNA damage response network
  • FANC core subcomplex including FANCA, B, C, E, F, G, L, FAAP100 (Thompson 2009)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with FANCB and FANCL to form a stable subcomplex
  • interacts with the transcriptional repressor Hairy Enhancer of Split 1 (HES1) suggesting that the core complex plays a role in transcription (Tremblay 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS