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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 | PDZ domain binding, aspartic-type endopeptidase activity, beta-catenin binding, cadherin binding, more...calcium channel activity, endopeptidase activity | | Biological Process | Cajal-Retzius cell differentiation, L-glutamate transport, Notch receptor processing, more...Notch signaling pathway, T cell activation involved in immune response, T cell receptor signaling pathway, activation of MAPKK activity, amyloid precursor protein catabolic process, anagen, autophagic vacuole assembly, beta-amyloid formation, beta-amyloid metabolic process, blood vessel development, brain morphogenesis, calcium ion transport, cell fate specification, cell-cell adhesion, 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, 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, positive regulation of MAP kinase activity, positive regulation of apoptotic process, positive regulation of catalytic activity, positive regulation of coagulation, 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, thymus development | | Cellular Component | Golgi apparatus, Golgi membrane, Z disc, apical plasma membrane, axon, cell cortex, cell surface, centrosome, more...ciliary rootlet, cytoplasmic vesicle, dendritic shaft, endoplasmic reticulum, endoplasmic reticulum membrane, gamma-secretase complex, 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 |
| | 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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