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Aliases for GSAP Gene

Aliases for GSAP Gene

  • Gamma-Secretase Activating Protein 2 3
  • Protein Pigeon Homolog 3 4
  • PION 3 4
  • Pigeon Homolog (Drosophila) 2
  • Pigeon Homolog 3

External Ids for GSAP Gene

Previous HGNC Symbols for GSAP Gene

  • PION

Previous GeneCards Identifiers for GSAP Gene

  • GC07M076941

Summaries for GSAP Gene

Entrez Gene Summary for GSAP Gene

  • 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 amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]

GeneCards Summary for GSAP Gene

GSAP (Gamma-Secretase Activating Protein) is a Protein Coding gene. Diseases associated with GSAP include alzheimer disease. GO annotations related to this gene include beta-amyloid binding.

UniProtKB/Swiss-Prot for GSAP Gene

  • Regulator of gamma-secretase activity, which specifically activates the production of beta-amyloid protein (beta-amyloid protein 40 and beta-amyloid protein 42), without affecting the cleavage of other gamma-secretase targets such has Notch. The gamma-secretase complex is an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Specifically promotes the gamma-cleavage of APP CTF-alpha (also named APP-CTF) by the gamma-secretase complex to generate beta-amyloid, while it reduces the epsilon-cleavage of APP CTF-alpha, leading to a low production of AICD.

Gene Wiki entry for GSAP Gene

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

Genomics for GSAP Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GSAP Gene

Chromosome:
7
Start:
77,310,751 bp from pter
End:
77,416,408 bp from pter
Size:
105,658 bases
Orientation:
Minus strand

Genomic View for GSAP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GSAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSAP Gene

No data available for Regulatory Elements for GSAP Gene

Proteins for GSAP Gene

  • Protein details for GSAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A4D1B5-GSAP_HUMAN
    Recommended name:
    Gamma-secretase-activating protein
    Protein Accession:
    A4D1B5
    Secondary Accessions:
    • A4D1B6
    • Q3MJC0
    • Q8ND73
    • Q9UMH3
    • Q9Y4L9

    Protein attributes for GSAP Gene

    Size:
    854 amino acids
    Molecular mass:
    97802 Da
    Quaternary structure:
    • Interacts with APP; specifically interacts with the CTF-alpha product of APP. Interacts with the gamma-secretase complex.
    Miscellaneous:
    • Its role as an activator of beta-amyloid protein production makes it a promising therapeutic target for the treatment of Alzheimer disease.
    • The gamma-secretase regulator activity is specifically inhibited by imatinib (also known as STI571 or Gleevec), an anticancer drug that selectively decreases beta-amyloid protein production. Imatinib binds PION/GSAP and acts by preventing PION/GSAP interaction with the gamma-secretase substrate, CTF-alpha (PubMed:20811458).
    SequenceCaution:
    • Sequence=CAD39023.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for GSAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GSAP Gene

Proteomics data for GSAP Gene at MOPED

Post-translational modifications for GSAP Gene

  • The protein is first synthesized as a holoprotein form of 98 kDa and rapidly processed into the gamma-secretase-activating protein 16 kDa C-terminal form, which constitutes the predominant form.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GSAP Gene

No data available for DME Specific Peptides for GSAP Gene

Domains & Families for GSAP Gene

Protein Domains for GSAP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GSAP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A4D1B5

UniProtKB/Swiss-Prot:

GSAP_HUMAN :
  • Belongs to the GSAP family.
Family:
  • Belongs to the GSAP family.
genes like me logo Genes that share domains with GSAP: view

No data available for Gene Families for GSAP Gene

Function for GSAP Gene

Molecular function for GSAP Gene

UniProtKB/Swiss-Prot Function:
Regulator of gamma-secretase activity, which specifically activates the production of beta-amyloid protein (beta-amyloid protein 40 and beta-amyloid protein 42), without affecting the cleavage of other gamma-secretase targets such has Notch. The gamma-secretase complex is an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Specifically promotes the gamma-cleavage of APP CTF-alpha (also named APP-CTF) by the gamma-secretase complex to generate beta-amyloid, while it reduces the epsilon-cleavage of APP CTF-alpha, leading to a low production of AICD.

Gene Ontology (GO) - Molecular Function for GSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IDA 20811458
genes like me logo Genes that share ontologies with GSAP: view

Phenotypes for GSAP Gene

genes like me logo Genes that share phenotypes with GSAP: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GSAP Gene

Localization for GSAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSAP Gene

Golgi apparatus, trans-Golgi network.

Gene Ontology (GO) - Cellular Components for GSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005802 trans-Golgi network IDA 20811458
genes like me logo Genes that share ontologies with GSAP: view

No data available for Subcellular locations from COMPARTMENTS for GSAP Gene

Pathways & Interactions for GSAP Gene

SuperPathways for GSAP Gene

No Data Available

Interacting Proteins for GSAP Gene

Gene Ontology (GO) - Biological Process for GSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030162 regulation of proteolysis IDA 20811458
GO:1902004 positive regulation of beta-amyloid formation IDA 20811458
genes like me logo Genes that share ontologies with GSAP: view

No data available for Pathways by source and SIGNOR curated interactions for GSAP Gene

Drugs & Compounds for GSAP Gene

No Compound Related Data Available

Transcripts for GSAP Gene

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

No ASD Table

Relevant External Links for GSAP Gene

GeneLoc Exon Structure for
GSAP
ECgene alternative splicing isoforms for
GSAP

Expression for GSAP Gene

mRNA expression in normal human tissues for GSAP Gene

Protein differential expression in normal tissues from HIPED for GSAP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (59.8) and Brain (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GSAP Gene



mRNA Expression by UniProt/SwissProt for GSAP Gene

A4D1B5-GSAP_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with GSAP: view

Protein tissue co-expression partners for GSAP Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GSAP Gene

Orthologs for GSAP Gene

This gene was present in the common ancestor of animals.

Orthologs for GSAP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PION 35
  • 87.51 (n)
  • 82.55 (a)
PION 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GSAP 35
  • 88.28 (n)
  • 83.45 (a)
GSAP 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gsap 35
  • 79.92 (n)
  • 75.29 (a)
Pion 16
Gsap 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PION 35
  • 99.18 (n)
  • 99.06 (a)
PION 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gsap 35
  • 78.89 (n)
  • 73.36 (a)
oppossum
(Monodelphis domestica)
Mammalia GSAP 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 57 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves PION 35
  • 65.87 (n)
  • 57.88 (a)
GSAP 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GSAP 36
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gsap 35
  • 54.24 (n)
  • 45.36 (a)
gsap 36
  • 42 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008636 35
  • 40.04 (n)
  • 27.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta pigeon 35
  • 39.63 (n)
  • 25.13 (a)
pigeon 36
  • 18 (a)
OneToOne
Species with no ortholog for GSAP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GSAP Gene

ENSEMBL:
Gene Tree for GSAP (if available)
TreeFam:
Gene Tree for GSAP (if available)

Paralogs for GSAP Gene

(2) SIMAP similar genes for GSAP Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GSAP: view

No data available for Paralogs for GSAP Gene

Variants for GSAP Gene

Sequence variations from dbSNP and Humsavar for GSAP Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1128035 -- 77,310,808(-) ttttt(A/T)tttat utr-variant-3-prime
rs1139802 -- 77,311,296(-) CTCCT(C/T)TGAGA utr-variant-3-prime
rs1181895 -- 77,376,380(-) CCAGG(C/T)TTCCA intron-variant
rs1181896 -- 77,376,310(-) TAACT(A/G)AATGC intron-variant
rs1181897 -- 77,366,149(-) ctatg(C/T)atctg intron-variant

Variation tolerance for GSAP Gene

Residual Variation Intolerance Score: 32.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.97; 87.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GSAP Gene

HapMap Linkage Disequilibrium report
GSAP

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

Disorders for GSAP Gene

MalaCards: The human disease database

(1) MalaCards diseases for GSAP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association
Search GSAP in MalaCards View complete list of genes associated with diseases

Relevant External Links for GSAP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSAP
genes like me logo Genes that share disorders with GSAP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GSAP Gene

Publications for GSAP Gene

  1. Gamma-secretase activating protein is a therapeutic target for Alzheimer's disease. (PMID: 20811458) He G. … Greengard P. (Nature 2010) 2 67
  2. The role of I^-secretase activating protein (GSAP) and imatinib in the regulation of I^-secretase activity and amyloid-I^ generation. (PMID: 23209290) Hussain I. … Beher D. (J. Biol. Chem. 2013) 67
  3. Purification and characterization of the human I^-secretase activating protein. (PMID: 22681044) Deatherage C.L. … Sanders C.R. (Biochemistry 2012) 67
  4. Immunohistochemical characterization of I^-secretase activating protein expression in Alzheimer's disease brains. (PMID: 21718343) Satoh J. … Arima K. (Neuropathol. Appl. Neurobiol. 2012) 67
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 67

Products for GSAP Gene

Sources for GSAP Gene

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