• Gene id: 199990

Gene Summary

• Gene Symbol: FAAP20   Gene   UCSC   Ensembl
• Aliases: C1orf86, FP7162
• Gene name: FA core complex associated protein 20
• Alternate names: Fanconi anemia core complex-associated protein 20, FANCA-associated protein of 20 kDa, Fanconi anemia core complex associated protein 20, Fanconi anemia-associated protein of 20 kDa,
• Gene location: 1p36.33 (132945268: 132891348)     Exons: 25     NC_000009.12
• OMIM: 615183

Protein Summary

• Protein general information: Q6NZ36  
  • Name: Fanconi anemia core complex associated protein 20 (FANCA associated protein of 20 kDa) (Fanconi anemia associated protein of 20 kDa)
  • Length: 180  
  • Mass: 19869
• Sequence:

  MEAARRPRLGLSRRRPRPAGGPSGGRPWFLLGGDERERLWAELLRTVSPELILDHEVPSLPAFPGQEPRCGPEPT
  EVFTVGPKTFSWTPFPPDLWGPGRSYRLLHGAGGHLESPARSLPQRPAPDPCRAPRVEQQPSVEGAAALRSCPMC
  QKEFAPRLTQLDVDSHLAQCLAESTEDVTW

• Structural information:
  • Interpro: IPR031491  IPR031490  
  • Prosite: PS51906
  • PDB: 2MUQ 2MUR 3WWQ
  • PDBsum: 2MUQ 2MUR 3WWQ
  • DIP: 59917
• Other Databases: GeneCards:  FAAP20  Malacards:  FAAP20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IBA	molecular function
GO:0043240	Fanconi anaemia nuclear complex	IBA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0031593	polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0043240	Fanconi anaemia nuclear complex	IDA	cellular component
GO:0043240	Fanconi anaemia nuclear complex	IDA	cellular component
GO:0043240	Fanconi anaemia nuclear complex	IDA	cellular component
GO:0043240	Fanconi anaemia nuclear complex	IDA	cellular component
GO:0140036	ubiquitin-dependent protein binding	IDA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0036297	interstrand cross-link repair	IMP	biological process
GO:0036297	interstrand cross-link repair	IMP	biological process
GO:0036297	interstrand cross-link repair	IMP	biological process
GO:0019985	translesion synthesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043130	ubiquitin binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
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:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq