GSAP - gamma-secretase activating protein Gene

Also Known as PION

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54103

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables amyloid-beta binding IDA
IDA: Inferred from direct assay
20811458 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20811458 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of amyloid-beta formation IDA
IDA: Inferred from direct assay
20811458 GOA
involved in regulation of proteolysis IDA
IDA: Inferred from direct assay
20811458 GOA
Cellular Component GO Annotation Evidence References Source
located in trans-Golgi network IDA
IDA: Inferred from direct assay
20811458 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GSAP Protein Structure

GSAP-16

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

  • 0
  • 200
  • 400
  • 600
  • 800
  • 854 a.a.
Protein Preferred Names Protein Names

gamma-secretase-activating protein

  • pigeon homolog

GSAP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GSAP A4D1B5 APP Homo sapiens P05067
Anti Bait CoIP
20811458
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

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