Gene: Psen1 (presenilin 1)  Rattus norvegicus Symbol: Psen1 Name: presenilin 1 Description: ENCODES a protein that exhibits endopeptidase activity; peptidase activity; beta-catenin binding (ortholog); INVOLVED IN membrane protein ectodomain proteolysis; negative regulation of apoptotic process; negative regulation of neuron apoptotic process; PARTICIPATES IN Alzheimer disease pathway; Notch signaling pathway; Notch signaling pathway; ASSOCIATED WITH increased apoptosis; ASSOCIATED WITH Alzheimer Disease (ortholog); Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia (ortholog); Cardiomyopathy, Dilated (ortholog); FOUND IN cell surface; lysosomal membrane; membrane raft; INTERACTS WITH 2,6-dinitrotoluene; ammonium chloride; dibutyl phthalate Type: protein-coding RefSeq Status: PROVISIONAL Also known as: presenilin 1; presenilin-1; PS-1 Orthologs: Homo sapiens : PSEN1 (presenilin 1)  HGNC Mus musculus : Psen1 (presenilin 1)  MGI Latest Assembly: RGSC Genome Assembly v3.4 Position: Map Chr Position Strand Source Rat Cytogenetic Map 6 q31   NCBI RGSC Genome Assembly v5.0 6 118,326,276 - 118,361,124 - NCBI RGSC Genome Assembly v3.4 6 107,737,543 - 107,776,357 + NCBI Rat Celera Assembly 6 101,163,513 - 101,199,486 + NCBI Genome Assembly 3.1 6 107,729,188 - 107,781,021 + NCBI Model Launch Genome Browser (GBrowse) Annotation    (Toggle Detail/Summary View) Disease Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) Alzheimer Disease   ISS   1302519   RGD   Alzheimer Disease   ISS RGD:731724 7240710   OMIM   Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia   ISS RGD:731724 7240710   OMIM   Cardiomyopathy, Dilated   ISS RGD:731724 7240710   OMIM   Cardiomyopathy, Dilated, 1u   ISS RGD:731724 7240710   OMIM   Cerebral Amyloid Angiopathy   IEA   1331525   RGD   Cerebral Hemorrhage   ISS RGD:735973 1580694   RGD   Frontotemporal Dementia   ISS RGD:731724 7240710   OMIM   Hemorrhage   ISS   1302520   RGD   Hidradenitis suppurativa, familial   ISS RGD:731724 7240710   OMIM   Pick Disease of the Brain   ISS RGD:731724 7240710   OMIM   Gene-Chemical Interaction Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) 2,3,7,8-tetrachlorodibenzodioxine affects expression ISO RGD:735973 6480464 Tetrachlorodibenzodioxin affects the expression of PSEN1 mRNA CTD PMID:21570461 2,6-dinitrotoluene affects expression EXP   6480464 2,6-dinitrotoluene affects the expression of PSEN1 mRNA CTD PMID:21346803 3,4-methylenedioxymethamphetamine increases expression ISO RGD:735973 6480464 N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of PSEN1 mRNA CTD PMID:20188158 4,4'-diaminodiphenylmethane increases expression ISO RGD:735973 6480464 4,4'-diaminodiphenylmethane results in increased expression of PSEN1 mRNA CTD PMID:18648102 5-azacytidine decreases methylation ISO RGD:735973 6480464 Azacitidine results in decreased methylation of PSEN1 promoter CTD PMID:19635394 5-azacytidine multiple interactions ISO RGD:735973 6480464 Betaine inhibits the reaction [Azacitidine results in decreased methylation of PSEN1 promoter] CTD PMID:19635394 all-trans-retinoic acid multiple interactions ISO RGD:731724 6480464 Go 6976 inhibits the reaction [Tretinoin results in increased expression of PSEN1 protein] CTD PMID:19476501 all-trans-retinoic acid increases expression ISO RGD:735973 6480464 Tretinoin results in increased expression of PSEN1 protein; more ... CTD PMID:19476501 all-trans-retinoic acid multiple interactions ISO RGD:735973 6480464 Go 6976 inhibits the reaction [Tretinoin results in increased expression of PSEN1 protein] CTD PMID:19476501 all-trans-retinoic acid increases expression ISO RGD:731724 6480464 Tretinoin results in increased expression of PSEN1 mRNA; more ... CTD PMID:19476501 all-trans-retinoic acid affects localization ISO RGD:731724 6480464 Tretinoin affects the localization of PSEN1 protein CTD PMID:19476501 amiodarone increases expression ISO RGD:731724 6480464 Amiodarone results in increased expression of PSEN1 mRNA CTD PMID:19774075 ammonium chloride affects expression EXP   6480464 Ammonium Chloride affects the expression of PSEN1 mRNA CTD PMID:16483693 arsenite(3-) increases expression ISO RGD:735973 6480464 arsenite results in increased expression of PSEN1 mRNA CTD PMID:18191166 cadmium dichloride multiple interactions ISO RGD:731724 6480464 PSEN1 promotes the reaction [Cadmium Chloride results in increased cleavage of CDH1 protein] CTD PMID:18791180 copper atom increases uptake ISO RGD:735973 6480464 PSEN1 protein results in increased uptake of Copper CTD PMID:21239495 copper atom increases uptake ISO RGD:731724 6480464 PSEN1 protein results in increased uptake of Copper CTD PMID:21239495 copper(0) increases uptake ISO RGD:735973 6480464 PSEN1 protein results in increased uptake of Copper CTD PMID:21239495 copper(0) increases uptake ISO RGD:731724 6480464 PSEN1 protein results in increased uptake of Copper CTD PMID:21239495 copper(2+) sulfate increases expression ISO RGD:731724 6480464 Copper Sulfate results in increased expression of PSEN1 mRNA CTD PMID:19549813 diazoxide increases expression ISO RGD:735973 6480464 Isoproterenol results in increased expression of PSEN1 mRNA CTD PMID:21335049 dibutyl phthalate increases expression EXP   6480464 Dibutyl Phthalate results in increased expression of PSEN1 mRNA CTD PMID:21266533 dioxygen affects expression EXP   6480464 Oxygen deficiency affects the expression of PSEN1 mRNA CTD PMID:17963755 disodium selenite decreases expression ISO RGD:731724 6480464 Sodium Selenite results in decreased expression of PSEN1 mRNA CTD PMID:18175754 fenofibrate multiple interactions ISO RGD:731724 6480464 Fenofibrate affects the reaction [PSEN1 protein affects the cleavage of APP protein] CTD PMID:17962197 glycine betaine multiple interactions ISO RGD:735973 6480464 Betaine inhibits the reaction [S-Adenosylhomocysteine results in decreased methylation of PSEN1 promoter]; more ... CTD PMID:19635394 Goe 6976 multiple interactions ISO RGD:731724 6480464 Go 6976 inhibits the reaction [Phorbol 12,13-Dibutyrate results in increased expression of PSEN1 protein]; more ... CTD PMID:19476501 Goe 6976 multiple interactions ISO RGD:735973 6480464 Go 6976 inhibits the reaction [Tretinoin results in increased expression of PSEN1 protein] CTD PMID:19476501 isoflurane affects response to substance EXP   6480464 PSEN1 gene SNP affects the susceptibility to Isoflurane CTD PMID:18227305 isoprenaline increases expression ISO RGD:735973 6480464 Isoproterenol results in increased expression of PSEN1 mRNA CTD PMID:21335049 lead(0) decreases expression ISO RGD:731724 6480464 Lead results in decreased expression of PSEN1 mRNA CTD PMID:19921347 miconazole decreases expression EXP   6480464 Miconazole results in decreased expression of PSEN1 mRNA CTD PMID:22262564 ochratoxin A decreases expression EXP   6480464 ochratoxin A results in decreased expression of PSEN1 mRNA CTD PMID:23358140 oxaliplatin increases expression ISO RGD:731724 6480464 oxaliplatin results in increased expression of PSEN1 protein CTD PMID:19147571 paracetamol affects expression ISO RGD:735973 6480464 Acetaminophen affects the expression of PSEN1 mRNA CTD PMID:17562736 phenobarbital increases expression ISO RGD:735973 6480464 Phenobarbital results in increased expression of PSEN1 mRNA CTD PMID:19363144 phorbol 12,13-dibutanoate multiple interactions ISO RGD:731724 6480464 Go 6976 inhibits the reaction [Phorbol 12,13-Dibutyrate results in increased expression of PSEN1 protein] CTD PMID:19476501 phorbol 12,13-dibutanoate increases expression ISO RGD:731724 6480464 Phorbol 12,13-Dibutyrate results in increased expression of PSEN1 protein; more ... CTD PMID:19476501 progesterone multiple interactions ISO RGD:735973 6480464 Progesterone inhibits the reaction [PSEN1 gene mutant form results in decreased metabolism of Progesterone metabolite] CTD PMID:17988898 progesterone decreases metabolic processing ISO RGD:735973 6480464 PSEN1 gene mutant form results in decreased metabolism of Progesterone metabolite CTD PMID:17988898 propiconazole increases expression ISO RGD:735973 6480464 propiconazole results in increased expression of PSEN1 mRNA CTD PMID:21278054 PMID:19363144 propiconazole increases expression ISO RGD:735973 6480464 propiconazole results in increased expression of PSEN1 mRNA CTD PMID:19363144 more ... propiconazole increases expression ISO RGD:735973 6480464 propiconazole results in increased expression of PSEN1 mRNA CTD PMID:19363144 PMID:21278054 S-adenosyl-L-homocysteine decreases methylation ISO RGD:735973 6480464 S-Adenosylhomocysteine results in decreased methylation of PSEN1 promoter CTD PMID:19635394 S-adenosyl-L-homocysteine increases expression ISO RGD:735973 6480464 S-Adenosylhomocysteine results in increased expression of PSEN1 protein CTD PMID:19635394 S-adenosyl-L-homocysteine multiple interactions ISO RGD:735973 6480464 Betaine inhibits the reaction [S-Adenosylhomocysteine results in decreased methylation of PSEN1 promoter] CTD PMID:19635394 silicon dioxide increases expression ISO RGD:735973 6480464 Silicon Dioxide results in increased expression of PSEN1 mRNA CTD PMID:19073995 simvastatin increases expression EXP   6480464 Simvastatin results in increased expression of PSEN1 mRNA CTD PMID:19109527 toluene affects expression EXP   6480464 Toluene affects the expression of PSEN1 mRNA CTD PMID:21827849 zinc atom increases uptake ISO RGD:731724 6480464 PSEN1 protein results in increased uptake of Zinc CTD PMID:21239495 zinc atom increases uptake ISO RGD:735973 6480464 PSEN1 protein results in increased uptake of Zinc CTD PMID:21239495 zinc(0) increases uptake ISO RGD:731724 6480464 PSEN1 protein results in increased uptake of Zinc CTD PMID:21239495 zinc(0) increases uptake ISO RGD:735973 6480464 PSEN1 protein results in increased uptake of Zinc CTD PMID:21239495 Gene Ontology Annotations Biological Process Term Qualifier Evidence With Reference Notes Source Original Reference(s) activation of MAPKK activity   ISO RGD:735973 1624291 MGI:MGI:3579196|PMID:15896720 RGD MGI:MGI:3579196 PMID:15896720 activation of MAPKK activity   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 amyloid precursor protein catabolic process   ISO RGD:735973 1624291 MGI:MGI:2449304|MGI:MGI:2179062 RGD MGI:MGI:2150480 PMID:11567612 amyloid precursor protein catabolic process   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 amyloid precursor protein catabolic process   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:1334955 PMID:10206645 amyloid precursor protein catabolic process   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:3057045 PMID:15452145 anagen   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3513219 PMID:15525534 anagen   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 autophagic vacuole assembly   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:3057045 PMID:15452145 autophagic vacuole assembly   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 autophagy   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:3044229 PMID:15123735 beta-amyloid formation   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:4437371 PMID:20130175 beta-amyloid metabolic process   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:2665226 PMID:12684521 beta-amyloid metabolic process   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 blood vessel development   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:87649 PMID:9153393 blood vessel development   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 blood vessel development   ISO RGD:735973 1624291 MGI:MGI:3051523 RGD MGI:MGI:3050263 PMID:15254914 blood vessel development   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:3587130 PMID:16079160 brain development   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:87649 PMID:9153393 brain morphogenesis   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3760209 PMID:17614943 brain morphogenesis   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 Cajal-Retzius cell differentiation   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:3603707 PMID:15548218 Cajal-Retzius cell differentiation   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 calcium ion transmembrane transport   ISO RGD:731724 1624291 PMID:16959576 RGD PMID:16959576 calcium ion transport   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 cell fate specification   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3513219 PMID:15525534 cell fate specification   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 cell-cell adhesion   ISO RGD:731724 1624291 PMID:11953314 RGD PMID:11953314 cell-cell adhesion   IEA Ensembl:ENSP00000326366 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 cellular calcium ion homeostasis   ISO RGD:735973 1624291 MGI:MGI:2684616|MGI:MGI:2684620 RGD MGI:MGI:2449878 PMID:12431992 cellular protein metabolic process   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3694620 PMID:17097608 cellular protein metabolic process   ISO RGD:735973 1624291 MGI:MGI:3691929|PMID:11953314 RGD MGI:MGI:3691929 PMID:11953314 cerebral cortex cell migration   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:3587130 PMID:16079160 cerebral cortex cell migration   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 cerebral cortex development   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:3587130 PMID:16079160 choline transport   ISO RGD:735973 1624291 MGI:MGI:1930937 RGD MGI:MGI:3698892 PMID:17196556 choline transport   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 dorsal/ventral neural tube patterning   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:1347695 PMID:10557208 dorsal/ventral neural tube patterning   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 embryo development   ISO RGD:735973 1624291 MGI:MGI:3051523 RGD MGI:MGI:3051409 PMID:12391611 embryo development   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:3587130 PMID:16079160 embryo development   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:1347695 PMID:10557208 embryo development   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:1346745 PMID:10518543 embryonic limb morphogenesis   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3610505 PMID:16169548 embryonic limb morphogenesis   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 endoplasmic reticulum calcium ion homeostasis   ISO RGD:735973 1624291 MGI:MGI:1930937 RGD MGI:MGI:3758537 PMID:12460542 endoplasmic reticulum calcium ion homeostasis   ISO RGD:731724 1624291 PMID:17431506 RGD PMID:17431506 endoplasmic reticulum calcium ion homeostasis   ISO RGD:731724 1624291 UniProtKB:P49769 RGD PMID:16959576 endoplasmic reticulum calcium ion homeostasis   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:3044229 PMID:15123735 endoplasmic reticulum calcium ion homeostasis   ISO RGD:735973 1624291 MGI:MGI:1930937 RGD MGI:MGI:1353133 PMID:10662826 endoplasmic reticulum calcium ion homeostasis   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:3622834 PMID:15009636 endoplasmic reticulum calcium ion homeostasis   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3713016 PMID:17431506 epithelial cell proliferation   ISO RGD:735973 1624291 MGI:MGI:1891700 RGD MGI:MGI:3759192 PMID:17913918 epithelial cell proliferation   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 eye photoreceptor cell development   NAS   724403   RGD   forebrain development   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3044464 PMID:15148382 heart development   ISO RGD:735973 1624291 MGI:MGI:3051523 RGD MGI:MGI:3050263 PMID:15254914 heart looping   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:1347695 PMID:10557208 heart looping   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 hematopoietic progenitor cell differentiation   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 hematopoietic progenitor cell differentiation   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3691764 PMID:15122901 intracellular signal transduction   IEA InterPro:IPR002031 1600115 GO_REF:0000002 InterPro GO_REF:0000002 L-glutamate transport   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:3622834 PMID:15009636 L-glutamate transport   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 learning or memory   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3041370 PMID:15066262 locomotion   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3044464 PMID:15148382 membrane protein ectodomain proteolysis   IMP   1626321   RGD   membrane protein ectodomain proteolysis   ISS UniProtKB:P49768 1600115 GO_REF:0000024 UniProtKB GO_REF:0000024 membrane protein ectodomain proteolysis   ISO RGD:731724 1624291 PMID:15274632 RGD PMID:15274632 memory   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3760209 PMID:17614943 memory   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 memory   ISO RGD:735973 1624291 MGI:MGI:2155978 RGD MGI:MGI:2154807 PMID:11738035 memory   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3044464 PMID:15148382 memory   ISO RGD:735973 1624291 MGI:MGI:2449304|MGI:MGI:2179062 RGD MGI:MGI:2150480 PMID:11567612 mitochondrial transport   ISO RGD:735973 1624291 MGI:MGI:2664026|PMID:12805290 RGD MGI:MGI:2664026 PMID:12805290 mitochondrial transport   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 myeloid leukocyte differentiation   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3691764 PMID:15122901 myeloid leukocyte differentiation   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of apoptotic process   IDA   1304239   RGD   negative regulation of apoptotic process   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3044464 PMID:15148382 negative regulation of apoptotic process   ISO RGD:735973 1624291 MGI:MGI:3047434|PMID:15192701 RGD MGI:MGI:3047434 PMID:15192701 negative regulation of apoptotic process   ISO RGD:731724 1624291 PMID:10805794 RGD PMID:10805794 negative regulation of axonogenesis   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:3603707 PMID:15548218 negative regulation of axonogenesis   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of epidermal growth factor-activated receptor activity   ISO RGD:735973 1624291 MGI:MGI:4887523|PMID:20208556 RGD MGI:MGI:4887523 PMID:20208556 negative regulation of epidermal growth factor-activated receptor activity   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of neuron apoptotic process   IMP   1304239   RGD   negative regulation of protein kinase activity   ISO RGD:735973 1624291 MGI:MGI:2664026|PMID:12805290 RGD MGI:MGI:2664026 PMID:12805290 negative regulation of protein phosphorylation   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3044464 PMID:15148382 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process   ISO RGD:735973 1624291 MGI:MGI:4887523|PMID:20208556 RGD MGI:MGI:4887523 PMID:20208556 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of transcription from RNA polymerase II promoter   ISO RGD:735973 1624291 MGI:MGI:4887523|PMID:20208556 RGD MGI:MGI:4887523 PMID:20208556 negative regulation of transcription from RNA polymerase II promoter   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of ubiquitin-protein ligase activity   ISO RGD:735973 1624291 MGI:MGI:4887523|PMID:20208556 RGD MGI:MGI:4887523 PMID:20208556 negative regulation of ubiquitin-protein ligase activity   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 neurogenesis   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:87705 PMID:9160754 neurogenesis   ISO RGD:735973 1624291 MGI:MGI:2155978 RGD MGI:MGI:2154807 PMID:11738035 neuron apoptotic process   ISO RGD:735973 1624291 MGI:MGI:88059 RGD MGI:MGI:3617683 PMID:16478525 neuron apoptotic process   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 neuron development   ISO RGD:735973 1624291 MGI:MGI:3051523 RGD MGI:MGI:3051409 PMID:12391611 neuron differentiation   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:1858528 PMID:10821758 neuron migration   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:3045838 PMID:15163631 neuron migration   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 neuron migration   ISO RGD:735973 1624291 MGI:MGI:3051523 RGD MGI:MGI:3051409 PMID:12391611 neuron migration   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:1858528 PMID:10821758 neuron migration   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:3526759 PMID:10421573 Notch receptor processing   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:1334955 PMID:10206645 Notch receptor processing   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:4437371 PMID:20130175 Notch receptor processing   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 Notch receptor processing   ISO RGD:735973 1624291 MGI:MGI:3051523 RGD MGI:MGI:3051409 PMID:12391611 Notch signaling pathway   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 Notch signaling pathway   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:3639800 PMID:16715081 Notch signaling pathway   ISO RGD:735973 1624291 MGI:MGI:1932738 RGD MGI:MGI:1931803 PMID:11262239 Notch signaling pathway   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:1858528 PMID:10821758 Notch signaling pathway   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3760494 PMID:17698590 positive regulation of apoptotic process   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3610505 PMID:16169548 positive regulation of apoptotic process   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of catalytic activity   ISO RGD:731724 1624291 PMID:15274632 RGD PMID:15274632 positive regulation of catalytic activity   ISS UniProtKB:P49768 1600115 GO_REF:0000024 UniProtKB GO_REF:0000024 positive regulation of coagulation   ISO RGD:735973 1624291 MGI:MGI:2446469 RGD MGI:MGI:2662800 PMID:12646573 positive regulation of coagulation   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of MAP kinase activity   ISO RGD:735973 1624291 MGI:MGI:3579196|PMID:15896720 RGD MGI:MGI:3579196 PMID:15896720 positive regulation of MAP kinase activity   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of proteasomal ubiquitin-dependent protein catabolic process   ISO RGD:735973 1624291 MGI:MGI:4887523|PMID:20208556 RGD MGI:MGI:4887523 PMID:20208556 positive regulation of proteasomal ubiquitin-dependent protein catabolic process   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of protein kinase activity   ISO RGD:735973 1624291 MGI:MGI:3047434|PMID:15192701 RGD MGI:MGI:3047434 PMID:15192701 positive regulation of protein phosphorylation   ISO RGD:735973 1624291 MGI:MGI:3579196|PMID:15896720 RGD MGI:MGI:3579196 PMID:15896720 positive regulation of receptor recycling   ISO RGD:735973 1624291 MGI:MGI:4887523|PMID:20208556 RGD MGI:MGI:4887523 PMID:20208556 positive regulation of receptor recycling   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 post-embryonic development   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:1346745 PMID:10518543 post-embryonic development   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 protein glycosylation   ISO RGD:735973 1624291 MGI:MGI:2446469 RGD MGI:MGI:2662800 PMID:12646573 protein glycosylation   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 protein maturation   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3051716 PMID:15280425 protein maturation   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:2180437 PMID:11943765 protein processing   IDA   1358417   RGD   protein processing   ISS UniProtKB:P49768 1600115 GO_REF:0000024 UniProtKB GO_REF:0000024 protein processing   ISO RGD:731724 1624291 PMID:15274632 RGD PMID:15274632 protein processing   ISO RGD:735973 1624291 MGI:MGI:2449304|MGI:MGI:2179062 RGD MGI:MGI:2150480 PMID:11567612 protein processing   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:1334955 PMID:10206645 protein transport   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:2180437 PMID:11943765 protein transport   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 regulation of epidermal growth factor-activated receptor activity   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3714214 PMID:17556541 regulation of phosphorylation   ISO RGD:731724 1624291 PMID:9689133 RGD PMID:9689133 regulation of protein binding   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3762423 PMID:17920016 regulation of protein binding   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 regulation of resting membrane potential   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:3603707 PMID:15548218 regulation of resting membrane potential   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 regulation of synaptic plasticity   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3041370 PMID:15066262 regulation of synaptic plasticity   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 regulation of synaptic plasticity   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:3622609 PMID:11814648 regulation of synaptic transmission, glutamatergic   ISO RGD:735973 1624291 MGI:MGI:1930937 RGD MGI:MGI:1334084 PMID:10097174 regulation of synaptic transmission, glutamatergic   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to DNA damage stimulus   ISO RGD:735973 1624291 MGI:MGI:1930937 RGD MGI:MGI:3758537 PMID:12460542 response to DNA damage stimulus   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to oxidative stress   ISO RGD:735973 1624291 MGI:MGI:88059 RGD MGI:MGI:3617683 PMID:16478525 response to oxidative stress   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to oxidative stress   ISO RGD:735973 1624291 MGI:MGI:1930937 RGD MGI:MGI:1334084 PMID:10097174 segmentation   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:3587130 PMID:16079160 segmentation   ISO RGD:735973 1624291 MGI:MGI:1932738 RGD MGI:MGI:1931803 PMID:11262239 skeletal system morphogenesis   ISO RGD:735973 1624291 MGI:MGI:1857974 RGD MGI:MGI:87705 PMID:9160754 skeletal system morphogenesis   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 skin morphogenesis   ISO RGD:735973 1624291 MGI:MGI:4887523|PMID:20208556 RGD MGI:MGI:4887523 PMID:20208556 skin morphogenesis   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 smooth endoplasmic reticulum calcium ion homeostasis   ISO RGD:735973 1624291 MGI:MGI:88059 RGD MGI:MGI:2449878 PMID:12431992 smooth endoplasmic reticulum calcium ion homeostasis   IBA PANTHER:PTN000024458 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 somitogenesis   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:1347695 PMID:10557208 somitogenesis   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 somitogenesis   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:87649 PMID:9153393 synaptic vesicle targeting   ISO RGD:735973 1624291 MGI:MGI:2664026|PMID:12805290 RGD MGI:MGI:2664026 PMID:12805290 synaptic vesicle targeting   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 T cell activation involved in immune response   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3760494 PMID:17698590 T cell activation involved in immune response   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 T cell receptor signaling pathway   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3760494 PMID:17698590 T cell receptor signaling pathway   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 thymus development   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:3760494 PMID:17698590 thymus development   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 Cellular Component Term Qualifier Evidence With Reference Notes Source Original Reference(s) apical plasma membrane   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 axon   ISO RGD:735973 1624291 MGI:MGI:2154812|PMID:11740561 RGD MGI:MGI:2154812 PMID:11740561 axon   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 cell cortex   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 cell surface   IDA   1304229   RGD   centrosome   ISO RGD:731724 1624291 PMID:9298903 RGD PMID:9298903 centrosome   IEA Ensembl:ENSP00000326366 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 ciliary rootlet   ISO RGD:735973 1624291 MGI:MGI:3608016|PMID:16018997 RGD MGI:MGI:3608016 PMID:16018997 ciliary rootlet   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 cytoplasmic vesicle   ISO RGD:735973 1624291 MGI:MGI:2154812|PMID:11740561 RGD MGI:MGI:2154812 PMID:11740561 cytoplasmic vesicle   IEA Ensembl:ENSMUSP00000098786 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 dendrite   ISO RGD:735973 1624291 MGI:MGI:84297|PMID:8922407 RGD MGI:MGI:84297 PMID:8922407 dendritic shaft   ISO RGD:735973 1624291 MGI:MGI:2664026|PMID:12805290 RGD MGI:MGI:2664026 PMID:12805290 dendritic shaft   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 endoplasmic reticulum   ISO RGD:735973 1624291 MGI:MGI:2387342|PMID:10854253 RGD MGI:MGI:2387342 PMID:10854253 endoplasmic reticulum   ISS UniProtKB:P49768 1600115 GO_REF:0000024 UniProtKB GO_REF:0000024 endoplasmic reticulum   IBA PANTHER:PTN000024458 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 endoplasmic reticulum   ISO RGD:731724 1624291 PMID:9246482 RGD PMID:9246482 endoplasmic reticulum   ISO RGD:731724 1624291 PMID:15274632 RGD PMID:15274632 endoplasmic reticulum membrane   IEA UniProtKB-SubCell:SL-0097 1600115 GO_REF:0000039 UniProtKB GO_REF:0000039 gamma-secretase complex   ISO RGD:731724 1624291 PMID:10801983 RGD PMID:10801983 gamma-secretase complex   IEA Ensembl:ENSP00000326366 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 Golgi apparatus   ISO RGD:735973 1624291 MGI:MGI:3608016|PMID:16018997 RGD MGI:MGI:3608016 PMID:16018997 Golgi apparatus   ISS UniProtKB:P49768 1600115 GO_REF:0000024 UniProtKB GO_REF:0000024 Golgi apparatus   ISO RGD:731724 1624291 PMID:15274632 RGD PMID:15274632 Golgi apparatus   ISO RGD:731724 1624291 PMID:9632714 RGD PMID:9632714 Golgi apparatus   ISO RGD:731724 1624291 PMID:9246482 RGD PMID:9246482 Golgi membrane   IEA UniProtKB-SubCell:SL-0134 1600115 GO_REF:0000039 UniProtKB GO_REF:0000039 growth cone   ISO RGD:735973 1624291 MGI:MGI:2664026|PMID:12805290 RGD MGI:MGI:2664026 PMID:12805290 growth cone   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 integral to plasma membrane   ISO RGD:731724 1624291 PMID:15274632 RGD PMID:15274632 integral to plasma membrane   ISS UniProtKB:P49768 1600115 GO_REF:0000024 UniProtKB GO_REF:0000024 integral to plasma membrane   IBA PANTHER:PTN000024429 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 intracellular   ISO RGD:735973 1624291 MGI:MGI:3526759|PMID:10421573 RGD MGI:MGI:3526759 PMID:10421573 kinetochore   ISO RGD:731724 1624291 PMID:9298903 RGD PMID:9298903 kinetochore   IEA Ensembl:ENSP00000326366 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 lysosomal membrane   IDA   724403   RGD   membrane   ISO RGD:735973 1624291 MGI:MGI:2665226|PMID:12684521 RGD MGI:MGI:2665226 PMID:12684521 membrane   ISO RGD:735973 1624291 MGI:MGI:3527313|PMID:15634781 RGD MGI:MGI:3527313 PMID:15634781 membrane   ISO RGD:735973 1624291 MGI:MGI:2387342|PMID:10854253 RGD MGI:MGI:2387342 PMID:10854253 membrane   ISO RGD:735973 1624291 MGI:MGI:3589713|PMID:15886206 RGD MGI:MGI:3589713 PMID:15886206 membrane   ISO RGD:735973 1624291 MGI:MGI:3055708|PMID:15474363 RGD MGI:MGI:3055708 PMID:15474363 membrane raft   IDA   1626321   RGD   membrane-bounded organelle   ISO RGD:735973 1624291 MGI:MGI:2664026|PMID:12805290 RGD MGI:MGI:2664026 PMID:12805290 mitochondrial inner membrane   IDA   729648   RGD   mitochondrion   IDA   1358417   RGD   mitochondrion   ISS UniProtKB:P49768 1600115 GO_REF:0000024 UniProtKB GO_REF:0000024 mitochondrion   ISO RGD:731724 1624291 PMID:12377771 RGD PMID:12377771 neuromuscular junction   IDA   1601507   RGD   neuron projection   IDA   1626321   RGD   neuronal cell body   ISO RGD:735973 1624291 MGI:MGI:84297|PMID:8922407 RGD MGI:MGI:84297 PMID:8922407 neuronal cell body   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 neuronal cell body   ISO RGD:735973 1624291 MGI:MGI:2664026|PMID:12805290 RGD MGI:MGI:2664026 PMID:12805290 nuclear membrane   ISO RGD:731724 1624291 PMID:9298903 RGD PMID:9298903 nuclear outer membrane   ISO RGD:731724 1624291 PMID:9246482 RGD PMID:9246482 nuclear outer membrane   IEA Ensembl:ENSP00000326366 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 nucleus   ISO RGD:735973 1624291 MGI:MGI:2668759|PMID:12794186 RGD MGI:MGI:2668759 PMID:12794186 nucleus   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 perinuclear region of cytoplasm   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 plasma membrane   ISO RGD:735973 1624291 MGI:MGI:3694620|PMID:17097608 RGD MGI:MGI:3694620 PMID:17097608 protein complex   IDA   1358417   RGD   rough endoplasmic reticulum   ISO RGD:731724 1624291 PMID:9632714 RGD PMID:9632714 rough endoplasmic reticulum   IEA Ensembl:ENSP00000326366 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 smooth endoplasmic reticulum   ISO RGD:731724 1624291 PMID:9632714 RGD PMID:9632714 smooth endoplasmic reticulum   IEA Ensembl:ENSP00000326366 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 Z disc   IBA PANTHER:PTN000024431 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 Molecular Function Term Qualifier Evidence With Reference Notes Source Original Reference(s) aspartic-type endopeptidase activity   IEA InterPro:IPR001108|InterPro:IPR006639 1600115 GO_REF:0000002 InterPro GO_REF:0000002 beta-catenin binding   ISO RGD:731724 1624291 UniProtKB:Q02248 RGD PMID:11104755 beta-catenin binding   IEA Ensembl:ENSP00000326366 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 beta-catenin binding   ISO RGD:731724 1624291 UniProtKB:P35222 RGD PMID:9632714 cadherin binding   ISO RGD:735973 1624291 UniProtKB:P09803 RGD MGI:MGI:3691929 PMID:11953314 cadherin binding   IBA PANTHER:PTN000024458 1600115 GO_REF:0000033 RefGenome GO_REF:0000033 calcium channel activity   ISO RGD:731724 1624291 PMID:16959576 RGD PMID:16959576 calcium channel activity   IEA Ensembl:ENSP00000326366 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 endopeptidase activity   IDA   1358417   RGD   endopeptidase activity   ISO RGD:731724 1624291 PMID:8755489 RGD PMID:8755489 endopeptidase activity   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:3759192 PMID:17913918 endopeptidase activity   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:3057045 PMID:15452145 endopeptidase activity   ISO RGD:735973 1624291 MGI:MGI:3051523 RGD MGI:MGI:3051409 PMID:12391611 endopeptidase activity   ISO RGD:735973 1624291 MGI:MGI:1932738 RGD MGI:MGI:1931803 PMID:11262239 endopeptidase activity   ISO RGD:735973 1624291 MGI:MGI:3691929|PMID:11953314 RGD MGI:MGI:3691929 PMID:11953314 endopeptidase activity   ISO RGD:735973 1624291 MGI:MGI:109284 RGD MGI:MGI:3762423 PMID:17920016 endopeptidase activity   ISO RGD:735973 1624291 MGI:MGI:3694620|PMID:17097608 RGD MGI:MGI:3694620 PMID:17097608 endopeptidase activity   ISO RGD:735973 1624291 MGI:MGI:1930934 RGD MGI:MGI:2665226 PMID:12684521 endopeptidase activity   ISO RGD:735973 1624291 MGI:MGI:3714214|PMID:17556541 RGD MGI:MGI:3714214 PMID:17556541 endopeptidase activity   ISO RGD:735973 1624291 MGI:MGI:2149116 RGD MGI:MGI:1334955 PMID:10206645 PDZ domain binding   ISO RGD:731724 1624291 UniProtKB:Q9NZJ7 RGD PMID:10551805 PDZ domain binding   IEA Ensembl:ENSP00000326366 1600115 GO_REF:0000019 ENSEMBL GO_REF:0000019 peptidase activity   IDA   1358417   RGD   protein binding   IPI RGD:631418 1358417   RGD   protein binding   IPI UniProtKB:Q5PQQ3 1358419 PMID:12297508 IntAct   protein binding   ISO RGD:731724 1624291 UniProtKB:Q63053 RGD PMID:22036569 protein binding   ISO RGD:731724 1624291 UniProtKB:P10636 RGD PMID:9689133 protein binding   ISO RGD:731724 1624291 UniProtKB:P05067 RGD PMID:9223340 protein binding   ISO RGD:731724 1624291 UniProtKB:P05067 RGD PMID:21163940 protein binding   ISO RGD:731724 1624291 UniProtKB:P49755 RGD PMID:16641999 protein binding   ISO RGD:731724 1624291 UniProtKB:P14923 RGD PMID:16306047 protein binding   ISO RGD:731724 1624291 UniProtKB:Q8WW43 RGD PMID:12297508 protein binding   ISO RGD:731724 1624291 UniProtKB:Q9UMX0 RGD PMID:11076969 protein binding   ISO RGD:735973 1624291 UniProtKB:Q9WV31 RGD MGI:MGI:5299950 PMID:22036569 protein binding   ISO RGD:735973 1624291 UniProtKB:Q9Z1G4 RGD MGI:MGI:4839422 PMID:20541250 protein binding   ISO RGD:735973 1624291 UniProtKB:P57716|UniProtKB:Q9CQR7|UniProtKB:Q8BVF7 RGD MGI:MGI:3055708 PMID:15474363 protein binding   ISO RGD:735973 1624291 UniProtKB:P26450|UniProtKB:P09803|UniProtKB:P15116 RGD MGI:MGI:3047434 PMID:15192701 protein binding   ISO RGD:735973 1624291 UniProtKB:Q61483 RGD MGI:MGI:2668759 PMID:12794186 protein binding   ISO RGD:735973 1624291 UniProtKB:Q9WV60 RGD MGI:MGI:2664026 PMID:12805290 protein binding   ISO RGD:735973 1624291 UniProtKB:Q8CIQ7 RGD MGI:MGI:2387342 PMID:10854253 protein binding   ISO RGD:735973 1624291 UniProtKB:Q60625 RGD MGI:MGI:2154646 PMID:11719200 protein binding   IPI RGD:1310013 6484662   RGD   Molecular Pathway Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) Alzheimer disease pathway   IEA RGD:3425 6907045   KEGG rno:05010 Alzheimer disease pathway   ISS rno:05010 729595   RGD   neurotrophic factor signaling pathway   IEA RGD:3425 6907045   KEGG rno:04722 Notch signaling pathway   ISS RGD:731724 2302204   RGD   Notch signaling pathway   ISO RGD:731724 6484113   PID PID:200015 Notch signaling pathway   IEA RGD:3425 6907045   KEGG rno:04330 Notch signaling pathway   TAS   724403 RGD   syndecan signaling pathway   ISO RGD:731724 6484113   PID PID:200198 Wnt signaling pathway   IEA RGD:3425 6907045   KEGG rno:04310 External Database Links KEGG Pathway Alzheimer's disease Neurotrophin signaling pathway Notch signaling pathway Wnt signaling pathway Pathway Interaction Database Notch signaling pathway (PID:200015) p75(NTR)-mediated signaling (PID:200122) Presenilin action in Notch and Wnt signaling (PID:200063) Syndecan-3-mediated signaling events (PID:200198) Phenotype Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) increased apoptosis   IED   1304239   RGD   Disease Annotations Alzheimer Disease  (ISS) Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia  (ISS) Cardiomyopathy, Dilated  (ISS) Cardiomyopathy, Dilated, 1u  (ISS) Cerebral Amyloid Angiopathy  (IEA) Cerebral Hemorrhage  (ISS) Frontotemporal Dementia  (ISS) Hemorrhage  (ISS) Hidradenitis suppurativa, familial  (ISS) Pick Disease of the Brain  (ISS) Gene-Chemical Interaction Annotations 2,3,7,8-tetrachlorodibenzodioxine  (ISO) 2,6-dinitrotoluene  (EXP) 3,4-methylenedioxymethamphetamine  (ISO) 4,4'-diaminodiphenylmethane  (ISO) 5-azacytidine  (ISO) all-trans-retinoic acid  (ISO) amiodarone  (ISO) ammonium chloride  (EXP) arsenite(3-)  (ISO) cadmium dichloride  (ISO) copper atom  (ISO) copper(0)  (ISO) copper(2+) sulfate  (ISO) diazoxide  (ISO) dibutyl phthalate  (EXP) dioxygen  (EXP) disodium selenite  (ISO) fenofibrate  (ISO) glycine betaine  (ISO) Goe 6976  (ISO) isoflurane  (EXP) isoprenaline  (ISO) lead(0)  (ISO) miconazole  (EXP) ochratoxin A  (EXP) oxaliplatin  (ISO) paracetamol  (ISO) phenobarbital  (ISO) phorbol 12,13-dibutanoate  (ISO) progesterone  (ISO) propiconazole  (ISO) S-adenosyl-L-homocysteine  (ISO) silicon dioxide  (ISO) simvastatin  (EXP) toluene  (EXP) zinc atom  (ISO) zinc(0)  (ISO) Gene Ontology Annotations Biological Process activation of MAPKK activity  (IEA,ISO) amyloid precursor protein catabolic process  (IBA,ISO) anagen  (IEA,ISO) autophagic vacuole assembly  (IEA,ISO) autophagy  (ISO) beta-amyloid formation  (ISO) beta-amyloid metabolic process  (IBA,ISO) blood vessel development  (IEA,ISO) brain development  (ISO) brain morphogenesis  (IEA,ISO) Cajal-Retzius cell differentiation  (IEA,ISO) calcium ion transmembrane transport  (ISO) calcium ion transport  (IBA) cell fate specification  (IEA,ISO) cell-cell adhesion  (IEA,ISO) cellular calcium ion homeostasis  (ISO) cellular protein metabolic process  (ISO) cerebral cortex cell migration  (IEA,ISO) cerebral cortex development  (ISO) choline transport  (IEA,ISO) dorsal/ventral neural tube patterning  (IEA,ISO) embryo development  (ISO) embryonic limb morphogenesis  (IEA,ISO) endoplasmic reticulum calcium ion homeostasis  (ISO) epithelial cell proliferation  (IEA,ISO) eye photoreceptor cell development  (NAS) forebrain development  (ISO) heart development  (ISO) heart looping  (IEA,ISO) hematopoietic progenitor cell differentiation  (IEA,ISO) intracellular signal transduction  (IEA) L-glutamate transport  (IEA,ISO) learning or memory  (ISO) locomotion  (ISO) membrane protein ectodomain proteolysis  (IMP,ISO,ISS) memory  (IEA,ISO) mitochondrial transport  (IEA,ISO) myeloid leukocyte differentiation  (IEA,ISO) negative regulation of apoptotic process  (IDA,ISO) negative regulation of axonogenesis  (IEA,ISO) negative regulation of epidermal growth factor-activated receptor activity  (IEA,ISO) negative regulation of neuron apoptotic process  (IMP) negative regulation of protein kinase activity  (ISO) negative regulation of protein phosphorylation  (ISO) negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  (IEA,ISO) negative regulation of transcription from RNA polymerase II promoter  (IEA,ISO) negative regulation of ubiquitin-protein ligase activity  (IEA,ISO) neurogenesis  (ISO) neuron apoptotic process  (IEA,ISO) neuron development  (ISO) neuron differentiation  (ISO) neuron migration  (IEA,ISO) Notch receptor processing  (IBA,ISO) Notch signaling pathway  (IEA,ISO) positive regulation of apoptotic process  (IEA,ISO) positive regulation of catalytic activity  (ISO,ISS) positive regulation of coagulation  (IEA,ISO) positive regulation of MAP kinase activity  (IEA,ISO) positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IEA,ISO) positive regulation of protein kinase activity  (ISO) positive regulation of protein phosphorylation  (ISO) positive regulation of receptor recycling  (IEA,ISO) post-embryonic development  (IEA,ISO) protein glycosylation  (IEA,ISO) protein maturation  (ISO) protein processing  (IDA,ISO,ISS) protein transport  (IEA,ISO) regulation of epidermal growth factor-activated receptor activity  (ISO) regulation of phosphorylation  (ISO) regulation of protein binding  (IEA,ISO) regulation of resting membrane potential  (IEA,ISO) regulation of synaptic plasticity  (IEA,ISO) regulation of synaptic transmission, glutamatergic  (IEA,ISO) response to DNA damage stimulus  (IEA,ISO) response to oxidative stress  (IEA,ISO) segmentation  (ISO) skeletal system morphogenesis  (IEA,ISO) skin morphogenesis  (IEA,ISO) smooth endoplasmic reticulum calcium ion homeostasis  (IBA,ISO) somitogenesis  (IEA,ISO) synaptic vesicle targeting  (IEA,ISO) T cell activation involved in immune response  (IEA,ISO) T cell receptor signaling pathway  (IEA,ISO) thymus development  (IEA,ISO) Cellular Component apical plasma membrane  (IBA) axon  (IBA,ISO) cell cortex  (IBA) cell surface  (IDA) centrosome  (IEA,ISO) ciliary rootlet  (IBA,ISO) cytoplasmic vesicle  (IEA,ISO) dendrite  (ISO) dendritic shaft  (IBA,ISO) endoplasmic reticulum  (IBA,ISO,ISS) endoplasmic reticulum membrane  (IEA) gamma-secretase complex  (IEA,ISO) Golgi apparatus  (ISO,ISS) Golgi membrane  (IEA) growth cone  (IBA,ISO) integral to plasma membrane  (IBA,ISO,ISS) intracellular  (ISO) kinetochore  (IEA,ISO) lysosomal membrane  (IDA) membrane  (ISO) membrane raft  (IDA) membrane-bounded organelle  (ISO) mitochondrial inner membrane  (IDA) mitochondrion  (IDA,ISO,ISS) neuromuscular junction  (IDA) neuron projection  (IDA) neuronal cell body  (IBA,ISO) nuclear membrane  (ISO) nuclear outer membrane  (IEA,ISO) nucleus  (IBA,ISO) perinuclear region of cytoplasm  (IBA) plasma membrane  (ISO) protein complex  (IDA) rough endoplasmic reticulum  (IEA,ISO) smooth endoplasmic reticulum  (IEA,ISO) Z disc  (IBA) Molecular Function aspartic-type endopeptidase activity  (IEA) beta-catenin binding  (IEA,ISO) cadherin binding  (IBA,ISO) calcium channel activity  (IEA,ISO) endopeptidase activity  (IDA,ISO) PDZ domain binding  (IEA,ISO) peptidase activity  (IDA) protein binding  (IPI,ISO) Molecular Pathway Annotations Alzheimer disease pathway  (IEA,ISS) neurotrophic factor signaling pathway  (IEA) Notch signaling pathway  (IEA,ISO,ISS,TAS) syndecan signaling pathway  (ISO) Wnt signaling pathway  (IEA) External Database Links KEGG Pathway Alzheimer's disease Neurotrophin signaling pathway Notch signaling pathway Wnt signaling pathway Pathway Interaction Database Notch signaling pathway (PID:200015) p75(NTR)-mediated signaling (PID:200122) Presenilin action in Notch and Wnt signaling (PID:200063) Syndecan-3-mediated signaling events (PID:200198) Phenotype Annotations increased apoptosis  (IED) References - curated 1. Ankarcrona M and Hultenby K, Biochem Biophys Res Commun 2002 Jul 19;295(3):766-70. 2. Becker KG, etal., Nat Genet 2004 May;36(5):431-2. 3. Benussi L, etal., Exp Cell Res 2001 Oct 1;269(2):256-65. 4. Bresciani LG, etal., Mol Cell Neurosci 2002 Oct;21(2):239-49. 5. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74. 6. Gil C, etal., FEBS Lett. 2007 May 1;581(9):1851-8. Epub 2007 Apr 9. 7. GOA data from the GO Consortium 8. Hansson CA, etal., J Biol Chem 2004 Dec 3;279(49):51654-60. Epub 2004 Sep 28. 9. KEGG 10. Lee SF, etal., J Biol Chem 2002 Nov 22;277(47):45013-9. Epub 2002 Sep 23. 11. Leong DW, etal., J Biol Chem. 2012 Jun 8;287(24):20652-63. Epub 2012 Apr 25. 12. MGD data from the GO Consortium 13. NCBI rat LocusLink and RefSeq merged data July 26, 2002 14. Pasternak SH, etal., J Biol Chem 2003 Jul 18;278(29):26687-94. 15. Pipeline to import KEGG annotations from KEGG into RGD Pathway Ontology 16. Pipeline to import Pathway Interaction Database annotations from NCI into RGD 17. RGD automated data pipeline 18. RGD automated import pipeline for gene-chemical interactions 19. RGD Automated Pipelines 20. Sakuma K, etal., Biochim Biophys Acta. 2006 Jun;1760(6):980-7. Epub 2006 Mar 7. 21. Shen J, etal., Cell 1997 May 16;89(4):629-39. 22. Sherrington R, etal., Nature 1995 Jun 29;375(6534):754-60. 23. Strausberg RL, etal., Proc Natl Acad Sci U S A 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. 24. Takahashi H, etal., Neurosci Lett 1996 Mar 15;206(2-3):113-6. 25. Taniguchi T, etal., Gene 1997 Feb 20;186(1):73-5. 26. Tentative Sequence Data IDs. TIGR Gene Index, Rat Data 27. Wen PH, etal., Development. 2005 Sep;132(17):3873-83. Epub 2005 Aug 3. 28. Zhou Y, etal., Neurobiol Dis 2002 Mar;9(2):126-38. References - uncurated PubMed 15489334   15623526   17512915   17543552   18927449   18996842   19318429   19932144   21179780   21559374 RGD Disease Portals Psen1 has been annotated in the following RGD Disease Portals. Biological Process Cancer Pathways Biological Process Cardiovascular Diseases Cardiovascular Pathways Diabetes Diseases Diabetes Pathways Biological Process Immune and Inflammatory Diseases Immune and Inflammatory Pathways Biological Process Neurological Diseases Neurological Pathways Biological Process Obesity Diseases Obesity Pathways Biological Process Respiratory Pathways Genomics Comparative Map Data Psen1   (Rattus norvegicus) Map Chr Position Strand Source Rat Cytogenetic Map 6 q31   NCBI RGSC Genome Assembly v5.0 6 118,326,276 - 118,361,124 - NCBI RGSC Genome Assembly v3.4 6 107,737,543 - 107,776,357 + NCBI Rat Celera Assembly 6 101,163,513 - 101,199,486 + NCBI Genome Assembly 3.1 6 107,729,188 - 107,781,021 + NCBI PSEN1   (Homo sapiens) Map Chr Position Strand Source Human Alternate Assembly CHM1_1 14 54,593,456 - 54,681,521 + NCBI Human Genome Assembly HuRef 14 53,768,824 - 53,855,913 + NCBI Human Genome Assembly GRCh37 14 73,603,143 - 73,690,399 + NCBI Human Genome Assembly Build 36 14 72,672,932 - 72,756,862 + NCBI Human Cytogenetic Map 14 q24.3   NCBI Human Genome Assembly 14 72,684,480 - 72,755,750   NCBI Psen1   (Mus musculus) Map Chr Position Strand Source Mouse Genome Assembly GRCm38 12 83,688,563 - 83,735,199 + NCBI Mouse cM Map 12 38.84   NCBI Mouse Celera Assembly 12 85,135,054 - 85,181,689 + NCBI Mouse Genome Assembly Build 37 12 85,029,513 - 85,076,149 + NCBI Mouse Genome Assembly Build 36.1 12 85,029,513 - 85,076,149 + NCBI Mouse Cytogenetic Map 12 D1   NCBI Position Markers RH130315   Map Chr Position Strand Source Rat Cytogenetic Map 6 q31   UniSTS RGSC Genome Assembly v5.0 6 118,325,241 - 118,325,458   UniSTS RGSC Genome Assembly v3.4 6 107,777,175 - 107,777,392   UniSTS Rat Celera Assembly 6 101,200,304 - 101,200,521   UniSTS RH 3.4 6 733.1   UniSTS BF396895   Map Chr Position Strand Source Rat Cytogenetic Map 6 q31   UniSTS RGSC Genome Assembly v5.0 6 118,337,604 - 118,337,839   UniSTS RGSC Genome Assembly v3.4 6 107,764,135 - 107,764,370   UniSTS Rat Celera Assembly 6 101,187,582 - 101,187,817   UniSTS RH 3.4 6 733.8   UniSTS RH138321   Map Chr Position Strand Source Rat Cytogenetic Map 6 q31   UniSTS RGSC Genome Assembly v5.0 6 118,366,671 - 118,366,869   UniSTS RGSC Genome Assembly v3.4 6 107,731,557 - 107,731,755   UniSTS Rat Celera Assembly 6 101,158,740 - 101,158,938   UniSTS RH 3.4 6 732.59   UniSTS RH139353   Map Chr Position Strand Source Rat Cytogenetic Map 6 q31   UniSTS RGSC Genome Assembly v5.0 6 118,325,125 - 118,325,200   UniSTS RGSC Genome Assembly v3.4 6 107,777,433 - 107,777,508   UniSTS Rat Celera Assembly 6 101,200,562 - 101,200,637   UniSTS RH 3.4 6 732.09   UniSTS QTLs in Region (RGSC Genome Assembly v3.4) The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer RGD ID Symbol Name LOD P Value Trait Sub Trait Chr Start Stop Species 1576309 Emca7 Estrogen-induced mammary cancer QTL 7 4 Mammary tumor susceptibility estradiol-induced 6 2802670 111967837 Rat 4145119 Mcs25 Mammary carcinoma susceptibility QTL 25 .0001 Mammary tumor susceptibility 6 7161389 115238799 Rat 737827 Hcar11 Hepatocarcinoma resistance QTL 11 4.4 Liver tumor resistance nodule number 6 41300997 115238799 Rat 634330 Pia16 Pristane induced arthritis QTL 16 3.9 Joint/bone inflammation arthritis severity 6 47039212 108621490 Rat 1558641 Cm47 Cardiac mass QTL 47 2.9 .001 Cardiac mass body weight adjusted 6 59946874 108503674 Rat 6893332 Cm74 Cardiac mass QTL 74 .4 .64 Cardiac mass body weight adjusted 6 59946874 108503674 Rat 731173 Uae22 Urinary albumin excretion QTL 22 10.1 Renal function urine albumin level 6 68036028 123455207 Rat 2290393 Uae37 Urinary albumin excretion QTL 37 .0001 Renal function urine albumin level 6 68036028 123455207 Rat 1641904 Alcrsp4 Alcohol response QTL 4 Alcohol response loss of righting reflex 6 70874239 115874239 Rat 1331789 Rf37 Renal function QTL 37 3.224 Renal function renal vascular resistance 6 75049527 120074417 Rat 724536 Uae7 Urinary albumin excretion QTL 7 3.5 Renal function urine albumin level 6 75049527 136452267 Rat 1331799 Bp211 Blood pressure QTL 211 3.66407 Blood pressure time series calculation 6 75049527 136649854 Rat 1300075 Glom7 Glomerulus QTL 7 5.6 .0000002 Renal function glomerulus number 6 75061972 120061972 Rat 1576302 Schws4 Schwannoma susceptibility QTL 4 .0078 Neural tumor susceptibility tumor incidence, length of survival time 6 76340580 121340580 Rat 724524 Uae2 Urinary albumin excretion QTL 2 2.7 .0005 Renal function urine albumin level 6 76380261 114031923 Rat 2293837 Kiddil1 Kidney dilation QTL 1 3.7 Renal pathology kidney dilation 6 84287190 108790535 Rat 2293842 Kiddil3 Kidney dilation QTL 3 4.3 Renal pathology kidney dilation 6 84287190 108790535 Rat 738034 Anxrr5 Anxiety related response QTL 5 5.9 Anxiety response open field inner locomotion 6 88615514 133615514 Rat 724513 Uae14 Urinary albumin excretion QTL 14 6.5 Renal function urine albumin level 6 88723578 123455031 Rat 1300076 Glom8 Glomerulus QTL 8 7 .000000009 Renal function glomerulus number 6 91532057 136532057 Rat 2303624 Vencon5 Ventilatory control QTL 5 4.45 Ventilatory control hypercapnic challenge 6 92738204 137738204 Rat 1331722 Thshl1 Thyroid stimulating hormone level QTL 1 11.7 .0001 Thyroid stimulating hormone level 6 93373975 111239430 Rat 1331725 Bp212 Blood pressure QTL 212 3.52475 Blood pressure mean arterial 6 97561873 134379784 Rat 61414 Pia3 Pristane induced arthritis QTL 3 4.5 Joint/bone inflammation day of onset 6 98840516 144200901 Rat 2313399 Anxrr28 Anxiety related response QTL 28 Anxiety response domestication 6 99749898 138261655 Rat 1358355 Srcrt4 Stress Responsive Cort QTL 4 6.39 Hypothalamic-pituitary-adrenal axis corticosterone post-stress 6 104481235 123455207 Rat Sequence Nucleotide Sequences Nucleotide RefSeqs NM_019163 (Get FASTA) Search GEO for Microarray Profiles GenBank Nucleotide AABR06045348 (Get FASTA) Search GEO for Microarray Profiles   AABR06045349 (Get FASTA) Search GEO for Microarray Profiles   AABR06045350 (Get FASTA) Search GEO for Microarray Profiles   AABR06045351 (Get FASTA) Search GEO for Microarray Profiles   AABR06045352 (Get FASTA) Search GEO for Microarray Profiles   AABR06045353 (Get FASTA) Search GEO for Microarray Profiles   AAHX01045548 (Get FASTA) Search GEO for Microarray Profiles   AAHX01045549 (Get FASTA) Search GEO for Microarray Profiles   AAHX01045550 (Get FASTA) Search GEO for Microarray Profiles   AAHX01045551 (Get FASTA) Search GEO for Microarray Profiles   AAHX01045552 (Get FASTA) Search GEO for Microarray Profiles   AAHX01045553 (Get FASTA) Search GEO for Microarray Profiles   AAHX01045554 (Get FASTA) Search GEO for Microarray Profiles   BC070887 (Get FASTA) Search GEO for Microarray Profiles   CH473982 (Get FASTA) Search GEO for Microarray Profiles   D82363 (Get FASTA) Search GEO for Microarray Profiles   D82578 (Get FASTA) Search GEO for Microarray Profiles   FQ231303 (Get FASTA) Search GEO for Microarray Profiles Reference Sequences RefSeq Acc Id: NM_019163 RefSeq Status: PROVISIONAL Type: CODING Protein Acc Id: NP_062036 Position: Map Chr Position Strand Source RGSC Genome Assembly v5.0 6 118,326,276 - 118,361,124 - NCBI RGSC Genome Assembly v3.4 6 107,737,543 - 107,776,357 + RGD Rat Celera Assembly 6 101,163,513 - 101,199,486 + RGD Protein Sequences Protein RefSeqs NP_062036 (Get FASTA) GenBank Protein AAH70887 (Get FASTA)   BAA11564 (Get FASTA)   BAA11575 (Get FASTA)   EDL81455 (Get FASTA)   EDL81456 (Get FASTA)   EDL81457 (Get FASTA)   P97887 (Get FASTA) Strain Variation Strain Sequence Variants ACI/Eur (MCW) Visual CSV TAB Printer Sequenced By: Medical College of Wisconsin (Dr. Howard Jacob) Platform: Illumina HiSeq 2000 Secondary Analysis: BWA v0.5.9-r16 and GATK v1.3-14 ACI/N (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: SOLID Secondary Analysis: SAP42 (Developed at RNAAS) Breeder: National Institutes of Health Grant Information: EURATRANS (HEALTH-F4-2010-241504) BN-Lx (ICL) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Imperial College London (Dr Timothy Aitman) Platform: SOLID Secondary Analysis: BWA, GATK, Samtools Breeder: Academy of Sciences of the Czech Republic (Dr.Michal Pravenec) Grant Information: MC-A654-5QB00 BN-Lx (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Platform: SOLID Secondary Analysis: SAP42 (Developed at RNAAS) Breeder: Academy of Sciences of the Czech Republic (Dr.Michal Pravenec) Grant Information: EURATRANS (HEALTH-F4-2010-241504) BN/NHsdMcwi (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: SOLID Secondary Analysis: SAP42 (Developed at RNAAS) Breeder: Medical College of Wisconsin Grant Information: EURATRANS (HEALTH-F4-2010-241504) BN/SsN (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: SOLID Secondary Analysis: SAP42 (Developed at RNAAS) Breeder: National Institutes of Health Grant Information: EURATRANS (HEALTH-F4-2010-241504) Buf/N (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: SOLID Secondary Analysis: SAP42 (Developed at RNAAS) Breeder: National Institutes of Health Grant Information: EURATRANS (HEALTH-F4-2010-241504) COP/Crl (MCW & UW) Visual CSV TAB Printer Sequenced By: Medical College of Wisconsin (Dr. Howard Jacob) Univiersity of Wisconsin (Jim Shull) Platform: Illumina HiSeq 2000 Secondary Analysis: BWA v0.5.9-r16 and GATK v2.3-5 Breeder: Charles River Grant Information: NIH (CA77876) F344/N (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: SOLID Breeder: National Institutes of Health Grant Information: EURATRANS (HEALTH-F4-2010-241504) FHH/EurMcwi (MCW) Visual CSV TAB Printer Sequenced By: Medical College of Wisconsin (Dr. Howard Jacob) Platform: Illumina HiSeq 2000 Secondary Analysis: BWA v0.5.9-r16 and GATK v1.3-14 FHH/EurMcwi (MDC) Visual CSV TAB Printer Sequenced By: Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: Illumina/Solexa, Genome Analyzer II Secondary Analysis: CASAVA Software v1.7 Breeder: Medical College of Wisconsin Grant Information: EURATRANS (HEALTH-F4-2010-241504) FHL/EurMcwi (MCW) Visual CSV TAB Printer Sequenced By: Medical College of Wisconsin (Dr. Howard Jacob) Platform: Illumina HiSeq 2000 Secondary Analysis: BWA v0.5.9-r16 and GATK v1.3-14 GH/OmrMcwi (MCW) Visual CSV TAB Printer Sequenced By: Medical College of Wisconsin (Dr. Howard Jacob) Platform: Illumina HiSeq 2000 Secondary Analysis: BWA v0.5.9-r16 and GATK v2.3-5 LE/Stm (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: SOLID Secondary Analysis: SAP42 (Developed at RNAAS) Breeder: Dr. Tadao Serikawa, Kyoto Japan. Grant Information: EURATRANS (HEALTH-F4-2010-241504) M520/N (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: SOLID Secondary Analysis: SAP42 (Developed at RNAAS) Breeder: National Institutes of Health Grant Information: EURATRANS (HEALTH-F4-2010-241504) MR/N (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: SOLID Breeder: National Institutes of Health Grant Information: EURATRANS (HEALTH-F4-2010-241504) SHR/Olalpcv (ICL) Visual CSV TAB Printer Sequenced By: Imperial College London (Dr Timothy Aitman) University of British Columbia (Dr. Steven Jones) Platform: Illumina Hi-seq 2000 and GAII Secondary Analysis: BWA, GATK Breeder: Institute of Physiology, Academy of Sciences of the Czech Republic, Prague Grant Information: LSHG-CT-2005-019015, HEALTH-F4-2010-241504 SHR/Olalpcv (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Imperial College London (Dr Timothy Aitman) Platform: Illumina Secondary Analysis: GATK Grant Information: EURATRANS (HEALTH-F4-2010-241504) SHRSP/Gcrc (MDC) Visual CSV TAB Printer Sequenced By: Max Delbruch Center for Molecular Medicine (Dr. Norbert Huebner) Platform: Illumina/Solexa, Genome Analyzer II Secondary Analysis: CASAVA Software v1.7 Breeder: University of Glasgow, Anna Dominiczak Grant Information: EURATRANS (HEALTH-F4-2010-241504) SR/JrHsd (MCW) Visual CSV TAB Printer Sequenced By: Medical College of Wisconsin (Dr. Howard Jacob) Platform: Illumina HiSeq 2000 Secondary Analysis: BWA v0.5.9-r16 and GATK v1.3-14 Breeder: Harlan SS/JrHsdMcwi (MCW) Visual CSV TAB Printer Sequenced By: Medical College of Wisconsin (Dr. Howard Jacob) Platform: Illumina HiSeq 2000 Secondary Analysis: BWA v0.5.9-r16 and GATK v1.3-14 Grant Information: R01 HL089930 SS/JrHsdMcwi (MDC) Visual CSV TAB Printer Sequenced By: Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: Illumina/Solexa, Genome Analyzer II Secondary Analysis: CASAVA Software v1.7 Breeder: Medical College of Wisconsin Grant Information: EURATRANS (HEALTH-F4-2010-241504) WKY/N (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: SOLID Secondary Analysis: SAP42 (Developed at RNAAS) Breeder: National Institutes of Health Grant Information: EURATRANS (HEALTH-F4-2010-241504) WN/N (KNAW) Visual CSV TAB Printer Sequenced By: Royal Netherland Academy of Arts and Sciences (Dr. Edwin Cuppen) Max Delbruck Center for Molecular Medicine (Dr. Norbert Huebner) Platform: SOLID Secondary Analysis: SAP42 (Developed at RNAAS) Breeder: National Institutes of Health Grant Information: EURATRANS (HEALTH-F4-2010-241504) Additional Information External Database Links Database Acc Id Source(s) Ensembl Genes ENSRNOG00000009110 UniProtKB/Swiss-Prot Ensembl Protein ENSRNOP00000012495 UniProtKB/Swiss-Prot Ensembl Transcript ENSRNOT00000012495 UniProtKB/Swiss-Prot Entrez Gene 29192 ENTREZGENE Germonline ENSRNOG00000009110 UniProtKB/Swiss-Prot HomoloGene Group ID 7186 ENTREZGENE IMAGE_CLONE IMAGE:7098018 IMAGE-MGC_LOAD InterPro Pept_A22A_PS1 UniProtKB/Swiss-Prot   Peptidase_A22 UniProtKB/Swiss-Prot   Peptidase_A22A UniProtKB/Swiss-Prot IPI IPI00326970 UniProtKB/Swiss-Prot KEGG Report rno:29192 ENTREZGENE, UniProtKB/Swiss-Prot MGC_CLONE MGC:91716 IMAGE-MGC_LOAD PANTHER Pept_A22A_PS1 UniProtKB/Swiss-Prot   Peptidase_A22A UniProtKB/Swiss-Prot Pfam Presenilin UniProtKB/Swiss-Prot PRINTS PRESENILIN UniProtKB/Swiss-Prot   PRESENILIN1 UniProtKB/Swiss-Prot SMART PSN UniProtKB/Swiss-Prot TIGR TC235825 UniGene Rn.44440 ENTREZGENE UniProt PSN1_RAT UniProtKB/Swiss-Prot Nomenclature History Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status 2002-06-10 Psen1  presenilin 1      Name updated 1488 APPROVED RGD Curation Notes Note Type Note Reference gene_cellular_localization localized to the inner membrane of mitochondria 729648 gene_expression developmentally regulated in the retina 727595 gene_function interacts with proliferation-associated gene (PAG) resulting in protection from neuronal apoptosis 1304239

More on Psen1 Entrez Gene Ensembl Gene Genome Browser NCBI Map Viewer Vista Vista + UCSC RGD Object Information RGD ID: 3425 Created: 2000-05-25 Species: Rattus norvegicus Last Modified: 2013-04-16 Status: ACTIVE