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

Gene ID: 54103, updated on 15-Apr-2019

Summary

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
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

Genomic context

See GSAP in Genome Data Viewer
Location:
7q11.23
Exon count:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (77310751..77416419, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76940068..77045719, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 146 Neighboring gene uncharacterized LOC105375359 Neighboring gene uncharacterized LOC102723791 Neighboring gene uncharacterized LOC107986714 Neighboring gene uncharacterized LOC101927243 Neighboring gene glucosaminyl (N-acetyl) transferase 1 pseudogene 5 Neighboring gene protein tyrosine phosphatase non-receptor type 12

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126548, DKFZp667B242

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of amyloid-beta formation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001350896.1NP_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_001350897.1NP_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_001350898.1NP_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_001350899.1NP_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_001350900.1NP_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_001350901.1NP_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
    Related
    ENSP00000257626.7, ENST00000257626.12
    Conserved Domains (1) summary
    pfam14959
    Location:642749
    GSAP-16; gamma-Secretase-activating protein C-term

RNA

  1. NR_146937.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004921, AC073635
  2. NR_146938.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004921, AC073635

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    77310751..77416419 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012348.1XP_016867837.1  gamma-secretase-activating protein isoform X5

    Conserved Domains (1) summary
    pfam14959
    Location:445552
    GSAP-16; gamma-Secretase-activating protein C-term
  2. XM_017012346.1XP_016867835.1  gamma-secretase-activating protein isoform X5

    Conserved Domains (1) summary
    pfam14959
    Location:445552
    GSAP-16; gamma-Secretase-activating protein C-term
  3. XM_024446801.1XP_024302569.1  gamma-secretase-activating protein isoform X4

    Conserved Domains (1) summary
    pfam14959
    Location:610717
    GSAP-16; gamma-Secretase-activating protein C-term
  4. XM_017012343.1XP_016867832.1  gamma-secretase-activating protein isoform X2

  5. XM_011516327.2XP_011514629.1  gamma-secretase-activating protein isoform X3

    Conserved Domains (1) summary
    pfam14959
    Location:660767
    GSAP-16; gamma-Secretase-activating protein C-term
  6. XM_011516325.2XP_011514627.1  gamma-secretase-activating protein isoform X1

    Conserved Domains (1) summary
    pfam14959
    Location:660767
    GSAP-16; gamma-Secretase-activating protein C-term
  7. XM_011516330.2XP_011514632.1  gamma-secretase-activating protein isoform X5

    Conserved Domains (1) summary
    pfam14959
    Location:445552
    GSAP-16; gamma-Secretase-activating protein C-term
  8. XM_017012351.2XP_016867840.1  gamma-secretase-activating protein isoform X8

  9. XM_011516331.3XP_011514633.1  gamma-secretase-activating protein isoform X6

    See identical proteins and their annotated locations for XP_011514633.1

  10. XM_017012350.2XP_016867839.1  gamma-secretase-activating protein isoform X7

  11. XM_011516332.3XP_011514634.1  gamma-secretase-activating protein isoform X6

    See identical proteins and their annotated locations for XP_011514634.1

RNA

  1. XR_001744816.1 RNA Sequence

  2. XR_001744815.1 RNA Sequence

  3. XR_001744814.1 RNA Sequence

  4. XR_001744811.1 RNA Sequence

  5. XR_001744812.1 RNA Sequence

  6. XR_927479.3 RNA Sequence

  7. XR_001744817.1 RNA Sequence

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