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

    Gene ID: 212167, updated on 27-Nov-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 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, Nov 2024]
    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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    See Gsap in Genome Data Viewer
    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) 
    • Targeted (2)  1 citation

    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
    		  
    enables amyloid-beta binding ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    involved_in regulation of proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    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
    		  
    located_in trans-Golgi network ISS
    Inferred from Sequence or Structural Similarity
    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

    Gene LinkOut

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