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Gsap gamma-secretase activating protein [ Mus musculus (house mouse) ]

Gene ID: 212167, updated on 5-Mar-2024

Summary

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Official Symbol
Gsapprovided by MGI
Official Full Name
gamma-secretase activating proteinprovided by MGI
Primary source
MGI:MGI:2442259
See related
Ensembl:ENSMUSG00000039934 AllianceGenome:MGI:2442259
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Pion; A530088I07Rik
Summary
Predicted to enable amyloid-beta binding activity. Involved in positive regulation of amyloid-beta formation. Predicted to be located in Golgi apparatus. Predicted to be active in trans-Golgi network. Is expressed in brain ventricular layer. Orthologous to human GSAP (gamma-secretase activating protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung adult (RPKM 7.7), liver adult (RPKM 3.7) and 22 other tissues See more
Orthologs
human all
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Genomic context

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Location:
5 A3; 5 9.83 cM
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (21380767..21518423)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (21176019..21291737)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene neuroepithelial cell transforming gene 1 pseudogene Neighboring gene predicted gene, 42222 Neighboring gene STARR-seq mESC enhancer starr_12563 Neighboring gene STARR-positive B cell enhancer ABC_E6308 Neighboring gene coiled-coil domain containing 146 Neighboring gene VISTA enhancer mm186 Neighboring gene STARR-positive B cell enhancer ABC_E6309 Neighboring gene predicted gene, 50626 Neighboring gene STARR-positive B cell enhancer ABC_E6310 Neighboring gene STARR-seq mESC enhancer starr_12565 Neighboring gene STARR-positive B cell enhancer ABC_E3562 Neighboring gene STARR-positive B cell enhancer ABC_E152 Neighboring gene fibrinogen-like protein 2 Neighboring gene family with sequence similarity 185, member A Neighboring gene F-box and leucine-rich repeat protein 13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. GSAP regulates lipid homeostasis and mitochondrial function associated with Alzheimer's disease. Xu P, et al. J Exp Med, 2021 Aug 2. PMID 34156424, Free PMC Article
  2. The role of γ-secretase activating protein (GSAP) and imatinib in the regulation of γ-secretase activity and amyloid-β generation. Hussain I, et al. J Biol Chem, 2013 Jan 25. PMID 23209290, Free PMC Article
  3. Regulation of gamma-secretase activating protein by the 5Lipoxygenase: in vitro and in vivo evidence. Chu J, et al. Sci Rep, 2015 Jun 16. PMID 26076991, Free PMC Article
  4. Gamma-secretase activating protein is a therapeutic target for Alzheimer's disease. He G, et al. Nature, 2010 Sep 2. PMID 20811458, Free PMC Article
  5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GSAP regulates lipid homeostasis and mitochondrial function associated with Alzheimer's disease.
    Title: GSAP regulates lipid homeostasis and mitochondrial function associated with Alzheimer's disease.
  2. GSAP cleavage via caspase-3 is regulated and depend upon the availability of 5-Lipoxygenase in Alzheimer's disease.
    Title: Regulation of gamma-secretase activating protein by the 5Lipoxygenase: in vitro and in vivo evidence.
  3. gamma-secretase activating protein (GSAP) and imatinib have roles in the regulation of gamma-secretase activity and amyloid-beta generation
    Title: The role of γ-secretase activating protein (GSAP) and imatinib in the regulation of γ-secretase activity and amyloid-β generation.
  4. Study reports discovery of a novel gamma-secretase activating protein (GSAP) that selectively increases amyloid-beta production through interactions with gamma-secretase and its substrate, the amyloid precursor protein carboxy-terminal fragment.
    Title: Gamma-secretase activating protein is a therapeutic target for Alzheimer's disease.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables amyloid-beta binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in positive regulation of amyloid-beta formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of amyloid-beta formation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of amyloid-beta formation ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of proteolysis ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
gamma-secretase-activating protein
Names
pigeon homolog
protein pigeon homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001359876.2 → NP_001346805.1  gamma-secretase-activating protein isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC113052
    UniProtKB/TrEMBL
    A0A0G2JF17
    Related
    ENSMUSP00000142986.2, ENSMUST00000198937.2
    Conserved Domains (1) summary
    pfam14959
    Location:615 → 722
    GSAP-16; gamma-Secretase-activating protein C-term

  2. NM_001359877.2 → NP_001346806.1  gamma-secretase-activating protein isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC113052
    Related
    ENSMUST00000197522.5

  3. NM_175437.4 → NP_780646.2  gamma-secretase-activating protein isoform 1

    See identical proteins and their annotated locations for NP_780646.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC113052
    Consensus CDS
    CCDS39021.1
    UniProtKB/Swiss-Prot
    Q3TCV3, Q3UV93, Q8BJR8, Q8BZR8, Q8R1Y4
    UniProtKB/TrEMBL
    A0A0G2JF17
    Related
    ENSMUSP00000043679.9, ENSMUST00000036031.13
    Conserved Domains (1) summary
    pfam14959
    Location:646 → 753
    GSAP-16; gamma-Secretase-activating protein C-term

RNA

  1. NR_153365.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC113052

  2. NR_153366.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC113052

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    21380767..21518423
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030254347.2 → XP_030110207.1  gamma-secretase-activating protein isoform X4

    Conserved Domains (1) summary
    pfam14959
    Location:404 → 511
    GSAP-16; gamma-Secretase-activating protein C-term

  2. XM_011249760.4 → XP_011248062.1  gamma-secretase-activating protein isoform X2

    UniProtKB/TrEMBL
    A0A0G2JF17
    Conserved Domains (1) summary
    pfam14959
    Location:561 → 668
    GSAP-16; gamma-Secretase-activating protein C-term

  3. XM_036164977.1 → XP_036020870.1  gamma-secretase-activating protein isoform X7

    Conserved Domains (1) summary
    pfam14959
    Location:341 → 448
    GSAP-16; gamma-Secretase-activating protein C-term

  4. XM_036164974.1 → XP_036020867.1  gamma-secretase-activating protein isoform X1

    UniProtKB/TrEMBL
    A0A0G2JF17
    Conserved Domains (1) summary
    pfam14959
    Location:620 → 727
    GSAP-16; gamma-Secretase-activating protein C-term

  5. XM_036164976.1 → XP_036020869.1  gamma-secretase-activating protein isoform X7

    Conserved Domains (1) summary
    pfam14959
    Location:341 → 448
    GSAP-16; gamma-Secretase-activating protein C-term

  6. XM_030254346.1 → XP_030110206.1  gamma-secretase-activating protein isoform X4

    Conserved Domains (1) summary
    pfam14959
    Location:404 → 511
    GSAP-16; gamma-Secretase-activating protein C-term

  7. XM_036164978.1 → XP_036020871.1  gamma-secretase-activating protein isoform X7

    Conserved Domains (1) summary
    pfam14959
    Location:341 → 448
    GSAP-16; gamma-Secretase-activating protein C-term

  8. XM_006535669.4 → XP_006535732.1  gamma-secretase-activating protein isoform X6

    Conserved Domains (1) summary
    pfam14959
    Location:401 → 508
    GSAP-16; gamma-Secretase-activating protein C-term

  9. XM_036164975.1 → XP_036020868.1  gamma-secretase-activating protein isoform X3

    UniProtKB/TrEMBL
    A0A0G2JF17
    Conserved Domains (1) summary
    pfam14959
    Location:646 → 701
    GSAP-16; gamma-Secretase-activating protein C-term

  10. XM_006535668.4 → XP_006535731.1  gamma-secretase-activating protein isoform X5

    UniProtKB/TrEMBL
    A0A0G2JF17

RNA

  1. XR_004942490.1 RNA Sequence

  2. XR_004942489.1 RNA Sequence

  3. XR_001784656.3 RNA Sequence

  4. XR_001784657.3 RNA Sequence

  5. XR_001784658.3 RNA Sequence

  6. XR_004942491.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3TCV3.1 GenPept UniProtKB/Swiss-Prot:Q3TCV3

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