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Sequence Detail
ID/Version
P49769 Q9JLP9 Q91WK6 (UniProt | EBI) Last sequence update: 1996-10-01
Last annotation update: 2017-07-05
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
For this sequence
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 1 214 10 9 65
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:143718 Trost M, et al., The phagosomal proteome in interferon-gamma-activated macrophages. Immunity. 2009 Jan;30(1):143-54

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last database update
08/08/2017
MGI 6.10
The Jackson Laboratory