| URN | urn:agi-llid:5663 |
|---|---|
| Total Entities | 0 |
| Connectivity | 1329 |
| Name | Psen1 |
| Description | presenilin 1 |
| Notes | Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008] |
| GO Molecular Function | calcium channel activity |
|---|---|
| hydrolase activity | |
| peptidase activity | |
| endopeptidase activity | |
| aspartic-type endopeptidase activity | |
| beta-catenin binding | |
| PDZ domain binding | |
| cadherin binding |
| GO Cellular Component | membrane |
|---|---|
| cell | |
| membrane raft | |
| integral component of membrane | |
| gamma-secretase complex | |
| integral component of plasma membrane | |
| apical plasma membrane | |
| nuclear outer membrane | |
| endoplasmic reticulum membrane | |
| Z disc | |
| ciliary rootlet | |
| nuclear membrane | |
| Golgi membrane | |
| lysosomal membrane | |
| mitochondrial inner membrane | |
| kinetochore | |
| centrosome | |
| protein complex | |
| cell surface | |
| intracellular | |
| plasma membrane | |
| Golgi apparatus | |
| cell cortex | |
| perinuclear region of cytoplasm | |
| endoplasmic reticulum | |
| cytoplasmic vesicle | |
| mitochondrion | |
| smooth endoplasmic reticulum | |
| rough endoplasmic reticulum | |
| nucleus | |
| growth cone | |
| dendritic shaft | |
| neuron projection | |
| axon | |
| dendrite | |
| neuronal cell body | |
| neuromuscular junction | |
| membrane-bounded organelle |
| GO Biological Process | locomotion |
|---|---|
| thymus development | |
| hematopoietic progenitor cell differentiation | |
| myeloid leukocyte differentiation | |
| T cell receptor signaling pathway | |
| T cell activation involved in immune response | |
| activation of MAPKK activity | |
| positive regulation of MAP kinase activity | |
| autophagic vacuole assembly | |
| protein glycosylation | |
| post-embryonic development | |
| segmentation | |
| somitogenesis | |
| dorsal-ventral neural tube patterning | |
| heart looping | |
| positive regulation of coagulation | |
| learning or memory | |
| memory | |
| embryo development | |
| skeletal system morphogenesis | |
| blood vessel development | |
| brain development | |
| heart development | |
| eye photoreceptor cell development | |
| brain morphogenesis | |
| skin morphogenesis | |
| forebrain development | |
| cerebral cortex development | |
| cerebral cortex cell migration | |
| Cajal-Retzius cell differentiation | |
| anagen | |
| neurogenesis | |
| negative regulation of axonogenesis | |
| neuron migration | |
| neuron differentiation | |
| neuron development | |
| embryonic limb morphogenesis | |
| cell fate specification | |
| cell adhesion | |
| intracellular signal transduction | |
| negative regulation of epidermal growth factor-activated receptor activity | |
| regulation of epidermal growth factor-activated receptor activity | |
| negative regulation of apoptotic signaling pathway | |
| Notch signaling pathway | |
| synaptic vesicle targeting | |
| regulation of synaptic transmission, glutamatergic | |
| regulation of synaptic plasticity | |
| cell-cell adhesion | |
| calcium ion transmembrane transport | |
| cellular calcium ion homeostasis | |
| endoplasmic reticulum calcium ion homeostasis | |
| smooth endoplasmic reticulum calcium ion homeostasis | |
| apoptotic process | |
| positive regulation of apoptotic process | |
| negative regulation of apoptotic process | |
| negative regulation of neuron apoptotic process | |
| neuron apoptotic process | |
| epithelial cell proliferation | |
| mitochondrial transport | |
| choline transport | |
| L-glutamate transport | |
| calcium ion transport | |
| positive regulation of receptor recycling | |
| response to oxidative stress | |
| cellular response to DNA damage stimulus | |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | |
| positive regulation of protein phosphorylation | |
| positive regulation of protein kinase 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 protein phosphorylation | |
| negative regulation of protein kinase activity | |
| negative regulation of ubiquitin-protein ligase activity | |
| regulation of phosphorylation | |
| positive regulation of catalytic activity | |
| beta-amyloid metabolic process | |
| beta-amyloid formation | |
| cellular protein metabolic process | |
| Notch receptor processing | |
| autophagy | |
| protein maturation | |
| protein processing | |
| proteolysis | |
| membrane protein ectodomain proteolysis | |
| amyloid precursor protein catabolic process | |
| protein transport | |
| regulation of resting membrane potential | |
| regulation of protein binding |
| Pathway | Alzheimer's Disease Overview |
|---|---|
| Ca2+ Toxicity in Alzheimer's Disease | |
| Proteins Involved in Pathogenesis of Alzheimer's Disease | |
| APP Processing | |
| Proteins Involved in Pathogenesis of Glioma | |
| Alzheimer disease pathway | |
| Alzheimer disease pathway | |
| Alzheimer disease pathway - Copy | |
| Copy of 'Alzheimer disease pathway' |
| Group | locomotion |
|---|---|
| thymus development | |
| hematopoietic progenitor cell differentiation | |
| myeloid leukocyte differentiation | |
| T cell receptor signaling pathway | |
| T cell activation involved in immune response | |
| activation of MAPKK activity | |
| positive regulation of MAP kinase activity | |
| autophagic vacuole assembly | |
| protein glycosylation | |
| post-embryonic development | |
| segmentation | |
| somitogenesis | |
| dorsal-ventral neural tube patterning | |
| heart looping | |
| positive regulation of coagulation | |
| learning or memory | |
| memory | |
| embryo development | |
| skeletal system morphogenesis | |
| blood vessel development | |
| brain development | |
| heart development | |
| eye photoreceptor cell development | |
| brain morphogenesis | |
| skin morphogenesis | |
| forebrain development | |
| cerebral cortex development | |
| cerebral cortex cell migration | |
| Cajal-Retzius cell differentiation | |
| anagen | |
| neurogenesis | |
| negative regulation of axonogenesis | |
| neuron migration | |
| neuron differentiation | |
| neuron development | |
| embryonic limb morphogenesis | |
| cell fate specification | |
| cell adhesion | |
| intracellular signal transduction | |
| negative regulation of epidermal growth factor-activated receptor activity | |
| regulation of epidermal growth factor-activated receptor activity | |
| negative regulation of apoptotic signaling pathway | |
| Notch signaling pathway | |
| synaptic vesicle targeting | |
| regulation of synaptic transmission, glutamatergic | |
| regulation of synaptic plasticity | |
| cell-cell adhesion | |
| calcium ion transmembrane transport | |
| calcium channel activity | |
| cellular calcium ion homeostasis | |
| endoplasmic reticulum calcium ion homeostasis | |
| smooth endoplasmic reticulum calcium ion homeostasis | |
| apoptotic process | |
| positive regulation of apoptotic process | |
| negative regulation of apoptotic process | |
| negative regulation of neuron apoptotic process | |
| neuron apoptotic process | |
| epithelial cell proliferation | |
| mitochondrial transport | |
| choline transport | |
| L-glutamate transport | |
| calcium ion transport | |
| positive regulation of receptor recycling | |
| response to oxidative stress | |
| cellular response to DNA damage stimulus | |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | |
| positive regulation of protein phosphorylation | |
| positive regulation of protein kinase 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 protein phosphorylation | |
| negative regulation of protein kinase activity | |
| negative regulation of ubiquitin-protein ligase activity | |
| regulation of phosphorylation | |
| positive regulation of catalytic activity | |
| hydrolase activity | |
| peptidase activity | |
| endopeptidase activity | |
| aspartic-type endopeptidase activity | |
| beta-amyloid metabolic process | |
| beta-amyloid formation | |
| cellular protein metabolic process | |
| Notch receptor processing | |
| autophagy | |
| protein maturation | |
| protein processing | |
| proteolysis | |
| membrane protein ectodomain proteolysis | |
| amyloid precursor protein catabolic process | |
| protein transport | |
| regulation of resting membrane potential | |
| regulation of protein binding | |
| beta-catenin binding | |
| PDZ domain binding | |
| cadherin binding | |
| membrane | |
| cell | |
| membrane raft | |
| integral component of membrane | |
| gamma-secretase complex | |
| integral component of plasma membrane | |
| apical plasma membrane | |
| nuclear outer membrane | |
| endoplasmic reticulum membrane | |
| Z disc | |
| ciliary rootlet | |
| nuclear membrane | |
| Golgi membrane | |
| lysosomal membrane | |
| mitochondrial inner membrane | |
| kinetochore | |
| centrosome | |
| protein complex | |
| cell surface | |
| intracellular | |
| plasma membrane | |
| Golgi apparatus | |
| cell cortex | |
| perinuclear region of cytoplasm | |
| endoplasmic reticulum | |
| cytoplasmic vesicle | |
| mitochondrion | |
| smooth endoplasmic reticulum | |
| rough endoplasmic reticulum | |
| nucleus | |
| growth cone | |
| dendritic shaft | |
| neuron projection | |
| axon | |
| dendrite | |
| neuronal cell body | |
| neuromuscular junction | |
| membrane-bounded organelle | |
| Genes with Mutations Associated with Alzheimer's Disease | |
| Secreted proteins |
| LocusLink ID | 5663 |
|---|---|
| 19164 | |
| 29192 |
| Cell Localization | Endoplasmic reticulum membrane |
|---|---|
| Golgi apparatus membrane | |
| Cell surface |
| GO ID | 0030165 |
|---|---|
| 0004190 | |
| 0008013 | |
| 0045296 | |
| 0005262 | |
| 0004175 | |
| 0021870 | |
| 0015813 | |
| 0007220 | |
| 0007219 | |
| 0002286 | |
| 0050852 | |
| 0000186 | |
| 0042987 | |
| 0042640 | |
| 0000045 | |
| 0034205 | |
| 0050435 | |
| 0001568 | |
| 0048854 | |
| 0070588 | |
| 0006816 | |
| 0001708 | |
| 0016337 | |
| 0006974 | |
| 0021795 | |
| 0015871 | |
| 0021904 | |
| 0030326 | |
| 0032469 | |
| 0050673 | |
| 0001947 | |
| 0002244 | |
| 0035556 | |
| 0006509 | |
| 0007613 | |
| 0006839 | |
| 0002573 | |
| 0043066 | |
| 0050771 | |
| 0007175 | |
| 0043524 | |
| 2000059 | |
| 0000122 | |
| 0051444 | |
| 0051402 | |
| 0048666 | |
| 0001764 | |
| 0043406 | |
| 0043065 | |
| 0043085 | |
| 0050820 | |
| 0032436 | |
| 0001921 | |
| 0009791 | |
| 0006486 | |
| 0016485 | |
| 0015031 | |
| 0042325 | |
| 0043393 | |
| 0060075 | |
| 0048167 | |
| 0051966 | |
| 0006979 | |
| 0048705 | |
| 0043589 | |
| 0051563 | |
| 0001756 | |
| 0016080 | |
| 0048538 | |
| 0005794 | |
| 0000139 | |
| 0030018 | |
| 0016324 | |
| 0030424 | |
| 0005938 | |
| 0009986 | |
| 0005813 | |
| 0035253 | |
| 0031410 | |
| 0043198 | |
| 0005783 | |
| 0005789 | |
| 0070765 | |
| 0030426 | |
| 0016021 | |
| 0005887 | |
| 0000776 | |
| 0005765 | |
| 0016020 | |
| 0045121 | |
| 0005743 | |
| 0005739 | |
| 0031594 | |
| 0043025 | |
| 0031965 | |
| 0005640 | |
| 0048471 | |
| 0005791 | |
| 0005790 | |
| 0016787 | |
| 0008233 | |
| 0006915 | |
| 0006914 | |
| 0007420 | |
| 0007155 | |
| 0006874 | |
| 0044267 | |
| 0021987 | |
| 0009790 | |
| 0030900 | |
| 0007507 | |
| 0007611 | |
| 0040011 | |
| 2001234 | |
| 0006469 | |
| 0001933 | |
| 0022008 | |
| 0030182 | |
| 0045860 | |
| 0001934 | |
| 0051604 | |
| 0006508 | |
| 0007176 | |
| 0035282 | |
| 0005623 | |
| 0030425 | |
| 0005622 | |
| 0043227 | |
| 0043005 | |
| 0005634 | |
| 0005886 | |
| 0043234 | |
| 0042462 |
| Alias | AD3 |
|---|---|
| FAD | |
| PS1 | |
| PS-1 | |
| S182 | |
| presenilin-1 | |
| Ad3h | |
| Psnl1 | |
| PSN1 gene | |
| PS1M1 | |
| PSEN I | |
| PSEN1 | |
| PSN1_HUMAN | |
| PSNL I | |
| S182 protein | |
| presenilin I | |
| presenilin 1 isoform I-467 | |
| Alzheimer disease 3 | |
| AD 3H | |
| presenilin 1 isoform I-463 | |
| AD(3)H | |
| AD3-H | |
| Alzheimer's disease 3 | |
| Alzheimer's disease 3-like | |
| OTTHUMP00000180591 | |
| presenilin 1 | |
| presenilin 1 isoform I-374 | |
| AD-3H |
| Mouse chromosome position | 12 38.84 cM |
|---|
| OMIM ID | 104311 |
|---|---|
| 613737 | |
| 607822 | |
| 613694 | |
| 600274 | |
| 172700 |
| Rat chromosome position | 6q31 |
|---|
| Hugo ID | 9508 |
|---|
| Human chromosome position | 14q24.3 |
|---|
| Swiss-Prot Accession | P49768 |
|---|---|
| P49769 | |
| Q3UYK2 | |
| P97887 | |
| Q91WK6 | |
| Q9JLP9 | |
| P97529 | |
| B2R6D3 | |
| O95465 | |
| Q14762 | |
| Q15719 | |
| Q15720 | |
| Q96P33 | |
| Q9UIF0 |
| PIR ID | I78388 |
|---|---|
| S58396 | |
| S63683 | |
| S63684 |
| Unigene ID | Hs.3260 |
|---|---|
| Mm.998 | |
| Rn.44440 |
| KEGG ID | hsa:5663 |
|---|---|
| mmu:19164 | |
| rno:29192 |
| Swiss-Prot ID | PSN1_MOUSE |
|---|---|
| PSN1_RAT | |
| PSN1_HUMAN |
| EC Number | 3.4.23.- |
|---|
| Ensembl ID | ENSG00000080815 |
|---|---|
| ENSP00000326366 | |
| ENST00000324501 | |
| ENSMUSG00000019969 | |
| ENSMUSP00000098786 | |
| ENSMUST00000101225 | |
| ENSRNOG00000009110 | |
| ENSRNOP00000012495 | |
| ENSRNOT00000012495 |
| Homologene ID | 7186 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1202717 |
|---|
| RGD ID | 3425 |
|---|
| MedScan ID | 5663 |
|---|