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 | PSEN1
presenilin 1 | The human orthologue of this gene is associated
with the following human diseases:- Acne inversa, familial, 3
- Alzheimer disease, type 3
- Alzheimer disease, type 3, with spastic paraparesis and apraxia
- Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
- Cardiomyopathy, dilated, 1U
- Dementia, frontotemporal
- Pick disease
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| Gene | | Official Symbol | PSEN1 | | Official Full Name | presenilin 1 | | CGNC ID | 7083 | | also known as | PS-1, presenilin-1, presenilin-1 | | gene type | protein-coding |
| | Genomic Map | | | Sequence Information | | | Gene Expression | | | Orthology | | | Gene Ontology | | Molecular Function | aspartic-type endopeptidase activity, beta-catenin binding, cadherin binding, calcium channel activity, more...endopeptidase activity, PDZ domain binding | | Biological Process | activation of MAPKK activity, amyloid precursor protein catabolic process, anagen, more...autophagic vacuole assembly, beta-amyloid formation, beta-amyloid metabolic process, blood vessel development, brain morphogenesis, Cajal-Retzius cell differentiation, calcium ion transport, cell-cell adhesion, cell fate specification, cellular response to DNA damage stimulus, cerebral cortex cell migration, choline transport, dorsal/ventral neural tube patterning, embryonic limb morphogenesis, epithelial cell proliferation, heart looping, hematopoietic progenitor cell differentiation, intracellular signal transduction, L-glutamate transport, membrane protein ectodomain proteolysis, memory, mitochondrial transport, myeloid leukocyte differentiation, negative regulation of apoptotic process, negative regulation of apoptotic signaling pathway, negative regulation of axonogenesis, negative regulation of epidermal growth factor-activated receptor activity, negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process, negative regulation of transcription from RNA polymerase II promoter, negative regulation of ubiquitin-protein ligase activity, neuron apoptotic process, neuron development, neuron migration, Notch receptor processing, Notch signaling pathway, positive regulation of apoptotic process, positive regulation of catalytic activity, positive regulation of coagulation, positive regulation of MAP kinase activity, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, positive regulation of receptor recycling, post-embryonic development, protein glycosylation, protein processing, protein transport, regulation of phosphorylation, regulation of protein binding, regulation of resting membrane potential, regulation of synaptic plasticity, regulation of synaptic transmission, glutamatergic, response to oxidative stress, skeletal system morphogenesis, skin morphogenesis, smooth endoplasmic reticulum calcium ion homeostasis, somitogenesis, synaptic vesicle targeting, T cell activation involved in immune response, T cell receptor signaling pathway, thymus development | | Cellular Component | apical plasma membrane, axon, cell cortex, cell surface, centrosome, ciliary rootlet, cytoplasmic vesicle, more...dendritic shaft, endoplasmic reticulum, endoplasmic reticulum membrane, gamma-secretase complex, Golgi apparatus, Golgi membrane, growth cone, integral component of plasma membrane, kinetochore, lysosomal membrane, membrane raft, mitochondrial inner membrane, mitochondrion, neuromuscular junction, neuronal cell body, nuclear outer membrane, nucleus, perinuclear region of cytoplasm, rough endoplasmic reticulum, smooth endoplasmic reticulum, Z disc |
| | Links to other databases | |
No expression data available.
| | Data from NCBI Unigene EST Profile
Unigene ID: Gga.3864 |
MouseFrogFruit FlyZebra FinchZebrafish |
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