ID/Version |
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Sequence description from provider |
RecName: Full=Presenilin-1; Short=PS-1; EC=3.4.23.-;AltName: Full=Protein S182;Contains: RecName: Full=Presenilin-1 NTF subunit;Contains: RecName: Full=Presenilin-1 CTF subunit;Contains: RecName: Full=Presenilin-1 CTF12; Short | ||||||||||||||
Provider | SWISS-PROT | ||||||||||||||
Sequence |
Polypeptide
467
aa
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Source | |||||||||||||||
Annotated genes and markers |
Follow the symbol links to get more information on the GO terms,
expression assays, orthologs, phenotypic alleles, and other information
for the genes or markers below.
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Sequence references in MGI |
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
J:40365 Shen J, et al., Skeletal and CNS defects in Presenilin-1-deficient mice. Cell. 1997 May 16;89(4):629-39 J:43028 Mitsuda N, et al., Transcriptional regulation of the mouse presenilin-1 gene. J Biol Chem. 1997 Sep 19;272(38):23489-97 J:71473 Xia X, et al., Loss of presenilin 1 is associated with enhanced beta-catenin signaling and skin tumorigenesis. Proc Natl Acad Sci U S A. 2001 Sep 11;98(19):10863-8 J:79164 Kashiwa A, et al., Isolation and characterization of novel presenilin binding protein. J Neurochem. 2000 Jul;75(1):109-16 J:84418 Nakajima M, et al., Abnormal blood vessel development in mice lacking presenilin-1. Mech Dev. 2003 Jun;120(6):657-67 J:95663 Hartmann D, et al., Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly. Curr Biol. 1999 Jul 15;9(14):719-27 J:115561 Marambaud P, et al., A presenilin-1/gamma-secretase cleavage releases the E-cadherin intracellular domain and regulates disassembly of adherens junctions. EMBO J. 2002 Apr 15;21(8):1948-56 J:122772 Litterst C, et al., Ligand binding and calcium influx induce distinct ectodomain/gamma-secretase-processing pathways of EphB2 receptor. J Biol Chem. 2007 Jun 1;282(22):16155-63 J:143718 Trost M, et al., The phagosomal proteome in interferon-gamma-activated macrophages. Immunity. 2009 Jan;30(1):143-54 J:268351 Barthet G, et al., Presenilin-mediated cleavage of APP regulates synaptotagmin-7 and presynaptic plasticity. Nat Commun. 2018 Nov 14;9(1):4780 J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89 |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 08/21/2024 MGI 6.24 |
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