IpiRecord: IPI00352799

IPI00352799 - Psen1, ISOFORM 2 OF PRESENILIN-1.
Uniprot Accession: P49769-2
Uniprot ID: PSN1_MOUSE
Mapping: Chr 12, 84577950 - 84624947
Entrez Gene: 19164
Entrez MapView: Geneprod
MGI: MGI:1202717
+All IPI Database Cross References
IPI records in this ortholog cluster (Cluster: MGI_ORTHOLOGY_6500)
Rat: Psen1, PRESENILIN-1.
Mouse: Psen1, ISOFORM 1 OF PRESENILIN-1.
Mouse: Psen1, ISOFORM 2 OF PRESENILIN-1.
Human: PSEN1, ISOFORM 1 OF PRESENILIN-1.
Human: PSEN1, ISOFORM 4 OF PRESENILIN-1.
Human: PSEN1, ISOFORM 2 OF PRESENILIN-1.
Human: PSEN1, ISOFORM 3 OF PRESENILIN-1.
Human: PSEN1, ISOFORM 5 OF PRESENILIN-1.
Human: PSEN1, ISOFORM 6 OF PRESENILIN-1.

Annotations for Psen1 and orthologs

GO Annotation Table

Compiled GO Annotations (from IPI)

GO Term Aspect Human Mouse Rat
integral to plasma membraneCISS ISS 
Golgi apparatusCIDA ISS ISS ISS 
ciliary rootletCIDA ISS IEA 
lysosomal membraneCIDA ISS 
dendriteCIDA ISS IEA 
integral to nuclear inner membraneCISS 
endoplasmic reticulumCIDA ISS ISS ISS 
kinetochoreCISS 
mitochondrial inner membraneCIDA 
intracellularCIDA ISS IEA 
cytoplasmic vesicleCIDA ISS IEA 
mitochondrionCIDA ISS ISS 
protein complexCIDA 
nucleusCIDA ISS IEA 
membraneCIDA ISS IEA 
integral to membraneCRCA ISS 
cell somaCIDA ISS IEA 
neuromuscular junctionCIDA 
axonCIDA ISS IEA 
cell surfaceCIDA 
membrane fractionCIDA ISS ISS 
hydrolase activityFIEA 
endopeptidase activityFIMP ISS IDA ISS IEA 
protein bindingFIPI IPI IPI IPI IDA ISS ISS ISS 
peptidase activityFIEA IDA 
anagenPIGI ISS IEA 
protein maturation via proteolysisPIMP IMP ISS IEA 
neuron migrationPIMP IMP ISS IEA 
regulation of phosphorylationPISS 
membrane protein ectodomain proteolysisPISS ISS 
cellular calcium ion homeostasisPIMP ISS IEA 
embryonic limb morphogenesisPIGI ISS IEA 
chromosome segregationPISS 
chromosome organization and biogenesis (sensu Eukaryota)PISS 
apoptosisPIDA ISS IEA 
Notch receptor processingPIMP ISS ISS 
smooth endoplasmic reticulum calcium ion homeostasisPIGI ISS IEA 
intracellular signaling cascadePIEA IEA 
amyloid precursor protein catabolic processPIMP IMP ISS ISS 
eye photoreceptor cell developmentPNAS 
positive regulation of enzyme activityPISS ISS 
negative regulation of neuron apoptosisPIMP 
cell adhesionPIEA IEA 
protein maturationPIGI ISS 
cell fate specificationPIGI ISS IEA 
positive regulation of apoptosisPIGI ISS IEA 
blood vessel developmentPIMP IMP ISS IEA 
heart developmentPIMP ISS IEA 
protein processingPIDA ISS ISS 
memoryPIMP ISS IEA 
anti-apoptosisPIDA ISS 
brain developmentPIMP 
somitogenesisPIMP 
positive regulation of protein kinase activityPIDA ISS IEA 
Notch signaling pathwayPIEA IEA 

Cellular Component

GO Graph Color Key: Rat Mouse Human Rat & Mouse Mouse & Human Rat & Human Rat, Mouse & Human

SVG image

Biological Process

GO Graph Color Key: Rat Mouse Human Rat & Mouse Mouse & Human Rat & Human Rat, Mouse & Human

SVG image

Molecular Function

GO Graph Color Key: Rat Mouse Human Rat & Mouse Mouse & Human Rat & Human Rat, Mouse & Human

SVG image

Phenotype (29)

Compiled Mammalian Phenotype Ontology Annotations (from IPI)

MP Term Aspect Human Mouse Rat
cellular phenotypeMPUn Un
skin/coat/nails phenotypeMPUn Un Un Un
craniofacial phenotypeMPUn Un Un
endocrine/exocrine gland phenotypeMPUn
behavior/neurological phenotypeMPUn Un Un Un Un Un
homeostasis/metabolism phenotypeMPUn Un
growth/size phenotypeMPUn Un Un Un Un Un Un
other phenotypeMPUn Un Un
immune system phenotypeMPUn
embryogenesis phenotypeMPUn Un Un Un Un
lethality-embryonic/perinatalMPUn Un Un Un Un Un
lethality-postnatalMPUn
skeleton phenotypeMPUn Un Un Un Un Un
life span-post-weaning/agingMPUn Un
hearing/vestibular/ear phenotypeMPUn
nervous system phenotypeMPUn Un Un Un Un Un Un Un Un Un Un
respiratory system phenotypeMPUn
hematopoietic system phenotypeMPUn
vision/eye phenotypeMPUn
digestive/alimentary phenotypeMPUn
normal phenotypeMPUn Un Un
cardiovascular system phenotypeMPUn Un Un Un Un Un
limbs/digits/tail phenotypeMPUn Un Un Un Un Un
renal/urinary system phenotypeMPUn
intracerebral hemorrhageNISS
abnormal neuron morphologyNISS
increased apoptosisNIED
neonatal lethalityNISS
abnormal skeleton morphologyNISS

Disease (1)

Compiled Disease Ontology Annotations (from IPI)

DO Term Aspect Human Mouse Rat
Cerebral HemorrhageDISS

Pathway (2)

Compiled Pathway Ontology Annotations (from IPI)

PW Term Aspect Human Mouse Rat
Alzheimer disease pathwayWIEA ISS
Notch signaling pathwayWTAS

KEGG Pathway (0)

KEGG Pathways for this protein (from IPI)

KEGG Pathway Human Mouse Rat
Alzheimer's disease (05010)Present in KEGG pathway Present in KEGG pathwayPresent in KEGG pathway
Wnt signaling pathway (04310)Present in KEGG pathway Present in KEGG pathwayPresent in KEGG pathway
Notch signaling pathway (04330)Present in KEGG pathway Present in KEGG pathwayPresent in KEGG pathway
Neurodegenerative Disorders (01510)Present in KEGG pathway Present in KEGG pathwayPresent in KEGG pathway