Homo sapiens Gene: PION
Summary
InnateDB Gene IDBG-23696.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PION
Gene Name pigeon homolog (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000186088
Encoded Proteins
pigeon homolog (Drosophila)
pigeon homolog (Drosophila)
pigeon homolog (Drosophila)
pigeon homolog (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:77310751-77416400
Strand Reverse strand
Band q11.23
Transcripts
ENST00000257626 ENSP00000257626
ENST00000334003
ENST00000449779
ENST00000441833 ENSP00000415402
ENST00000440473
ENST00000415112 ENSP00000396230
ENST00000426477
ENST00000434084
ENST00000430584 ENSP00000402748
ENST00000491796
ENST00000482866
ENST00000474686
ENST00000489920
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001540 beta-amyloid binding
Biological Process
GO:0030162 regulation of proteolysis
GO:1902004 positive regulation of beta-amyloid formation
Cellular Component
GO:0005802 trans-Golgi network
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.186649
RefSeq NM_017439 XM_005250448 XM_005250449
HUGO
OMIM
CCDS CCDS34672
HPRD 18671
IMGT
EMBL
GenPept
RNA Seq Atlas