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GSAP gamma-secretase activating protein [ Homo sapiens (human) ]

Gene ID: 54103, updated on 3-May-2025
Official Symbol
GSAPprovided by HGNC
Official Full Name
gamma-secretase activating proteinprovided by HGNC
Primary source
HGNC:HGNC:28042
See related
Ensembl:ENSG00000186088 MIM:613552; AllianceGenome:HGNC:28042
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PION
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]
Expression
Ubiquitous expression in lung (RPKM 10.9), spleen (RPKM 10.4) and 25 other tissues See more
Orthologs
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See GSAP in Genome Data Viewer
Location:
7q11.23
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (77310751..77416630, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (78561812..78667706, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76940068..77045666, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 146 Neighboring gene uncharacterized LOC105375359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18319 Neighboring gene uncharacterized LOC102723791 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:76900911-76901093 Neighboring gene NANOG hESC enhancer GRCh37_chr7:76945409-76945910 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:76977350-76977924 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:77021860-77023059 Neighboring gene uncharacterized LOC101927243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18322 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:77054393-77055091 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:77055092-77055789 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:77056489-77057185 Neighboring gene glucosaminyl (N-acetyl) transferase 1 pseudogene 5

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • MGC126548, DKFZp667B242

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
gamma-secretase-activating protein
Names
pigeon homolog
protein pigeon homolog

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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_001350896.2NP_001337825.1  gamma-secretase-activating protein isoform b

    Status: VALIDATED

    Source sequence(s)
    AC004921, AC073635
    Conserved Domains (1) summary
    pfam14959
    Location:642749
    GSAP-16; gamma-Secretase-activating protein C-term
  2. NM_001350897.2NP_001337826.1  gamma-secretase-activating protein isoform c

    Status: VALIDATED

    Source sequence(s)
    AC004921, AC073635
    Conserved Domains (1) summary
    pfam14959
    Location:624731
    GSAP-16; gamma-Secretase-activating protein C-term
  3. NM_001350898.2NP_001337827.1  gamma-secretase-activating protein isoform d

    Status: VALIDATED

    Source sequence(s)
    AC004921, AC073635
    Conserved Domains (1) summary
    pfam14959
    Location:623730
    GSAP-16; gamma-Secretase-activating protein C-term
  4. NM_001350899.2NP_001337828.1  gamma-secretase-activating protein isoform e

    Status: VALIDATED

    Source sequence(s)
    AC004921, AC073635
    Conserved Domains (1) summary
    pfam14959
    Location:642749
    GSAP-16; gamma-Secretase-activating protein C-term
  5. NM_001350900.2NP_001337829.1  gamma-secretase-activating protein isoform f

    Status: VALIDATED

    Source sequence(s)
    AC004921, AC073635
    Conserved Domains (1) summary
    pfam14959
    Location:427534
    GSAP-16; gamma-Secretase-activating protein C-term
  6. NM_001350901.2NP_001337830.1  gamma-secretase-activating protein isoform g

    Status: VALIDATED

    Source sequence(s)
    AC004921, AC073635
    Conserved Domains (1) summary
    pfam14959
    Location:395502
    GSAP-16; gamma-Secretase-activating protein C-term
  7. NM_017439.4NP_059135.2  gamma-secretase-activating protein isoform a

    See identical proteins and their annotated locations for NP_059135.2

    Status: VALIDATED

    Source sequence(s)
    BC110797, BM842423, DB498013
    Consensus CDS
    CCDS34672.2
    UniProtKB/Swiss-Prot
    A4D1B5, A4D1B6, Q3MJC0, Q8ND73, Q9UMH3, Q9Y4L9
    Related
    ENSP00000257626.7, ENST00000257626.12
    Conserved Domains (1) summary
    pfam14959
    Location:642749
    GSAP-16; gamma-Secretase-activating protein C-term

RNA

  1. NR_146937.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004921, AC073635
  2. NR_146938.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004921, AC073635

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    77310751..77416630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420491.1XP_047276447.1  gamma-secretase-activating protein isoform X6

  2. XM_047420494.1XP_047276450.1  gamma-secretase-activating protein isoform X8

  3. XM_047420493.1XP_047276449.1  gamma-secretase-activating protein isoform X7

  4. XM_047420490.1XP_047276446.1  gamma-secretase-activating protein isoform X6

  5. XM_017012346.2XP_016867835.1  gamma-secretase-activating protein isoform X6

    Conserved Domains (1) summary
    pfam14959
    Location:445552
    GSAP-16; gamma-Secretase-activating protein C-term
  6. XM_047420487.1XP_047276443.1  gamma-secretase-activating protein isoform X3

  7. XM_011516327.3XP_011514629.1  gamma-secretase-activating protein isoform X2

    Conserved Domains (1) summary
    pfam14959
    Location:660767
    GSAP-16; gamma-Secretase-activating protein C-term
  8. XM_011516325.3XP_011514627.1  gamma-secretase-activating protein isoform X1

    Conserved Domains (1) summary
    pfam14959
    Location:660767
    GSAP-16; gamma-Secretase-activating protein C-term
  9. XM_047420492.1XP_047276448.1  gamma-secretase-activating protein isoform X6

  10. XM_011516330.3XP_011514632.1  gamma-secretase-activating protein isoform X6

    Conserved Domains (1) summary
    pfam14959
    Location:445552
    GSAP-16; gamma-Secretase-activating protein C-term
  11. XM_047420489.1XP_047276445.1  gamma-secretase-activating protein isoform X5

  12. XM_047420488.1XP_047276444.1  gamma-secretase-activating protein isoform X4

  13. XM_047420495.1XP_047276451.1  gamma-secretase-activating protein isoform X11

  14. XM_017012351.3XP_016867840.1  gamma-secretase-activating protein isoform X12

  15. XM_017012350.3XP_016867839.1  gamma-secretase-activating protein isoform X10

  16. XM_011516332.4XP_011514634.1  gamma-secretase-activating protein isoform X9

    See identical proteins and their annotated locations for XP_011514634.1

  17. XM_011516331.4XP_011514633.1  gamma-secretase-activating protein isoform X9

    See identical proteins and their annotated locations for XP_011514633.1

RNA

  1. XR_007060056.1 RNA Sequence

  2. XR_927479.4 RNA Sequence

  3. XR_001744817.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    78561812..78667706 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358449.1XP_054214424.1  gamma-secretase-activating protein isoform X6

  2. XM_054358453.1XP_054214428.1  gamma-secretase-activating protein isoform X8

  3. XM_054358452.1XP_054214427.1  gamma-secretase-activating protein isoform X7

  4. XM_054358448.1XP_054214423.1  gamma-secretase-activating protein isoform X6

  5. XM_054358447.1XP_054214422.1  gamma-secretase-activating protein isoform X6

  6. XM_054358444.1XP_054214419.1  gamma-secretase-activating protein isoform X3

  7. XM_054358443.1XP_054214418.1  gamma-secretase-activating protein isoform X2

  8. XM_054358442.1XP_054214417.1  gamma-secretase-activating protein isoform X1

  9. XM_054358450.1XP_054214425.1  gamma-secretase-activating protein isoform X6

  10. XM_054358451.1XP_054214426.1  gamma-secretase-activating protein isoform X6

  11. XM_054358446.1XP_054214421.1  gamma-secretase-activating protein isoform X5

  12. XM_054358445.1XP_054214420.1  gamma-secretase-activating protein isoform X4

  13. XM_054358457.1XP_054214432.1  gamma-secretase-activating protein isoform X11

  14. XM_054358458.1XP_054214433.1  gamma-secretase-activating protein isoform X12

  15. XM_054358456.1XP_054214431.1  gamma-secretase-activating protein isoform X10

  16. XM_054358455.1XP_054214430.1  gamma-secretase-activating protein isoform X9

  17. XM_054358454.1XP_054214429.1  gamma-secretase-activating protein isoform X9

RNA

  1. XR_008487643.1 RNA Sequence

  2. XR_008487642.1 RNA Sequence

  3. XR_008487644.1 RNA Sequence