• Gene id: 80233

Gene Summary

• Gene Symbol: FAAP100   Gene   UCSC   Ensembl
• Aliases: C17orf70
• Gene name: FA core complex associated protein 100
• Alternate names: Fanconi anemia core complex-associated protein 100, Fanconi anemia associated protein 100 kDa subunit, Fanconi anemia core complex 100 kDa subunit, Fanconi anemia core complex associated protein 100, Fanconi anemia-associated protein, 100kDa, fanconi anemia-as,
• Gene location: 17q25.3 (81552398: 81539890)     Exons: 10     NC_000017.11
• Gene summary(Entrez): 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]
• OMIM: 610786

Protein Summary

• Protein general information: Q0VG06  
  • Name: Fanconi anemia core complex associated protein 100 (Fanconi anemia associated protein of 100 kDa)
  • Length: 881  
  • Mass: 93433
• Sequence:

  MAGAAPRVRYLAGFCCPLGGLAAGKPRVLCHEAEVFLSTGSELVYVYDQEGGLLTAAFRFPDQVWHLELLAPRRL
  LYALCARRGLYCLSLDHPGRSRSTSQDDRDSEDGDQPSPVIPVDPDACILPDAALCAFTLLDSVLVTLVQGPARW
  KMQLFEQPCPGEDPRPGGQIGEVELSSYTPPAGVPGKPAAPHFLPVLCSVSPSGSRVPHDLLGGSGGFTLEDALF
  GLLFGADATLLQSPVVLCGLPDGQLCCVILKALVTSRSAPGDPNALVKILHHLEEPVIFIGALKTEPQAAEAAEN
  FLPDEDVHCDCLVAFGHHGRMLAIKASWDESGKLVPELREYCLPGPVLCAACGGGGRVYHSTPSDLCVVDLSRGS
  TPLGPEQPEEGPGGLPPMLCPASLNICSVVSLSASPRTHEGGTKLLALSAKGRLMTCSLDLDSEMPGPARMTTES
  AGQKIKELLSGIGNISERVSFLKKAVDQRNKALTSLNEAMNVSCALLSSGTGPRPISCTTSTTWSRLQTQDVLMA
  TCVLENSSSFSLDQGWTLCIQVLTSSCALDLDSACSAITYTIPVDQLGPGARREVTLPLGPGENGGLDLPVTVSC
  TLFYSLREVVGGALAPSDSEDPFLDECPSDVLPEQEGVCLPLSRHTVDMLQCLRFPGLAPPHTRAPSPLGPTRDP
  VATFLETCREPGSQPAGPASLRAEYLPPSVASIKVSAELLRAALKDGHSGVPLCCATLQWLLAENAAVDVVRARA
  LSSIQGVAPDGANVHLIVREVAMTDLCPAGPIQAVEIQVESSSLADICRAHHAVVGRMQTMVTEQATQGSSAPDL
  RVQYLRQIHANHETLLREVQTLRDRLCTEDEASSCATAQRLLQVYRQLRHPSLILL

• Structural information:
  • Interpro: IPR029251  
  • STRING: ENSP00000333283
• Other Databases: GeneCards:  FAAP100  Malacards:  FAAP100

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IBA	cellular component
GO:0036297	interstrand cross-link repair	IEA	biological process
GO:0043240	Fanconi anaemia nuclear complex	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq