• Gene id: 54103

Gene Summary

• Gene Symbol: GSAP   Gene   UCSC   Ensembl
• Aliases: PION
• Gene name: gamma-secretase activating protein
• Alternate names: gamma-secretase-activating protein, pigeon homolog, protein pigeon homolog,
• Gene location: 7q11.23 (77416418: 77310750)     Exons: 35     NC_000007.14
• Gene summary(Entrez): Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases
• OMIM: 607773

Protein Summary

• Protein general information: A4D1B5  
  • Name: Gamma secretase activating protein (GSAP) (Protein pigeon homolog) [Cleaved into: Gamma secretase activating protein 16 kDa C terminal form (GSAP 16K)]
  • Length: 854  
  • Mass: 97802
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MALRLVADFDLGKDVLPWLRAQRAVSEASGAGSGGADVLENDYESLHVLNVERNGNIIYTYKDDKGNVVFGLYDC
  QTRQNELLYTFEKDLQVFSCSVNSERTLLAASLVQSTKEGKRNELQPGSKCLTLLVEIHPVNNVKVLKAVDSYIW
  VQFLYPHIESHPLPENHLLLISEEKYIEQFRIHVAQEDGNRVVIKNSGHLPRDRIAEDFVWAQWDMSEQRLYYID
  LKKSRSILKCIQFYADESYNLMFEVPLDISLSNSGFKLVNFGCDYHQYRDKFSKHLTLCVFTNHTGSLCVCYSPK
  CASWGQITYSVFYIHKGHSKTFTTSLENVGSHMTKGITFLNLDYYVAVYLPGHFFHLLNVQHPDLICHNLFLTGN
  NEMIDMLPHCPLQSLSGSLVLDCCSGKLYRALLSQSSLLQLLQNTCLDCEKMAALHCALYCGQGAQFLEAQIIQW
  ISENVSACHSFDLIQEFIIASSYWSVYSETSNMDKLLPHSSVLTWNTEIPGITLVTEDIALPLMKVLSFKGYWEK
  LNSNLEYVKYAKPHFHYNNSVVRREWHNLISEEKTGKRRSAAYVRNILDNAVKVISNLEARNLGPRLTPLLQEED
  SHQRLLMGLMVSELKDHFLRHLQGVEKKKIEQMVLDYISKLLDLICHIVETNWRKHNLHSWVLHFNSRGSAAEFA
  VFHIMTRILEATNSLFLPLPPGFHTLHTILGVQCLPLHNLLHCIDSGVLLLTETAVIRLMKDLDNTEKNEKLKFS
  IIVRLPPLIGQKICRLWDHPMSSNIISRNHVTRLLQNYKKQPRNSMINKSSFSVEFLPLNYFIEILTDIESSNQA
  LYPFEGHDNVDAEFVEEAALKHTAMLLGL

• Structural information:
  • Interpro: IPR028010  IPR026172  
  • DIP: 59240
  • STRING: ENSP00000257626
• Other Databases: GeneCards:  GSAP  Malacards:  GSAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IBA	cellular component
GO:1902004	positive regulation of amyloid-beta formation	IBA	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0030162	regulation of proteolysis	IDA	biological process
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1902004	positive regulation of amyloid-beta formation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:1902004	positive regulation of amyloid-beta formation	IDA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq