Symbol
Name
ID
|
|
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Synonyms
|
Ad3h, presenilin-1, PS-1, PS1, S182
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Genetic Map
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Sequence Map
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Mammalian
homology
|
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Sequences
|
All sequences(29)
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Alleles
and
phenotypes
|
All alleles(26) :
Targeted, knock-out(8)
Targeted, other(8)
Gene trapped(10)
| Homozygotes for targeted null mutations exhibit deformed axial skeletons, reduced Notch signaling, impaired brain growth with a deficiency of neural stem cells, cerebral hemorrhages, inhibited cleavage of amyloid precursor protein, and perinatal death. |
Associated Human Diseases (5)
Alleles Annotated to Human Diseases (10)
Phenotype Images (1)
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Polymorphisms
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SNPs within 2kb(249 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
|
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Expression
|
Literature Summary: (21 records)
Data Summary:
Assays (6)
Results (62)
Tissues (55)
Images (9)
Theiler Stages: 21,22,23,25,28
| |
Assay Type |
Assays |
|
Results |
| |
Western blot |
2 |
|
6 |
| |
RT-PCR |
2 |
|
47 |
| |
RNA in situ |
1 |
|
4 |
| |
Immunohistochemistry |
1 |
|
5 |
cDNA source data(134)
External Resources:
Allen Brain Atlas
GENSAT
GEO
|
Molecular
reagents
|
All nucleic(139)
Genomic(1)
cDNA(135)
Primer pair(2)
Other(1)
Antibodies(2)
Microarray probesets(4)
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Other database
links
|
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Protein
domains
|
| InterPro ID |
Description |
| IPR001108 |
Peptidase A22A, presenilin |
| IPR002031 |
Peptidase A22A, presenilin 1 |
| IPR006639 |
Peptidase A22, presenilin signal peptide |
Graphical View
of Protein Domain Structure
|
|
References
|
(Earliest)
J:37100
Sherrington R et al.,
"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease [see comments]"
Nature 1995 Jun 29;375(6534):754-60
(Latest)
J:154114
Ferjentsik Z et al.,
"Notch is a critical component of the mouse somitogenesis oscillator and is essential for the formation of the somites."
PLoS Genet 2009 Sep;5(9):e1000662
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All references(256)
|
Other
accession IDs
|
MGD-MRK-35912, MGI:107441
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