2. Gene
  3. GSAP - gamma-secretase activating protein Gene

GSAP - gamma-secretase activating protein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PION

Gene ID: 54103 | Gene type: protein coding

About GSAP

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:77,310,751-77,416,630 (from NCBI)

This gene has 13 transcripts (splice variants) and 216 orthologues. Ubiquitous expression in lung (RPKM 10.9), spleen (RPKM 10.4) and 25 other tissues.

Summary

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]

GSAP Products(7)

mRNA Protein Name
NM_001350896.2 NP_001337825.1 gamma-secretase-activating protein isoform b
NM_001350897.2 NP_001337826.1 gamma-secretase-activating protein isoform c
NM_001350898.2 NP_001337827.1 gamma-secretase-activating protein isoform d
NM_001350899.2 NP_001337828.1 gamma-secretase-activating protein isoform e
NM_001350900.2 NP_001337829.1 gamma-secretase-activating protein isoform f
NM_001350901.2 NP_001337830.1 gamma-secretase-activating protein isoform g
NM_017439.4 NP_059135.2 gamma-secretase-activating protein isoform a

GSAP Protein Structure

GSAP-16

GSAP-16: gamma-Secretase-activating protein C-term (635 - 749)

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  • 854 a.a.
Protein Preferred Names Protein Names

gamma-secretase-activating protein

pigeon homolog

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 3

Pontocerebellar Hypoplasia Type 3

Cerebellar Atrophy With Progressive Microcephaly

PCH3

Clam

Pch With Optic Atrophy

Pontocerebellar Hypoplasia 3

Hypoplasia, Pontocerebellar, Type 3
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05851 GSAP Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus GSAP RGD RGD:1563271
Mus musculus GSAP MGD MGI:2442259
Bos taurus GSAP VGNC VGNC:29671
Macaca mulatta GSAP VGNC VGNC:81321
Canis familiaris GSAP VGNC VGNC:41524
Felis catus GSAP VGNC VGNC:102596