Sequence Detail

ID/Version

P49769 Q91WK6 Q9JLP9 (UniProt | EBI)

Last sequence update: 1996-10-01
Last annotation update: 2024-07-24

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

Source

Organism mouse

See UniProt | EBI for 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.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Psen1	presenilin 1	310	116	3	46

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