Gene: PSEN1 (presenilin 1)  Homo sapiens Symbol: PSEN1 Name: presenilin 1 Description: 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] Type: protein-coding RefSeq Status: REVIEWED Also known as: AD3; FAD; OTTHUMP00000180587; OTTHUMP00000180588; OTTHUMP00000180589; OTTHUMP00000180591; OTTHUMP00000246399; OTTHUMP00000246538; OTTHUMP00000246578; presenilin 1; presenilin 1 (Alzheimer disease 3); presenilin-1; PS-1; PS-1; PS1; S182 Orthologs: Mus musculus : Psen1 (presenilin 1)  MGI Rattus norvegicus : Psen1 (presenilin 1) Latest Assembly: Human Genome Assembly GRCh37 Position: 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 Model Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19) Annotation    (Toggle Detail/Summary View) Disease Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) Alzheimer Disease   ISS   1302519   RGD   Alzheimer Disease   IEA   7240710   OMIM   Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia   IEA   7240710   OMIM   Cardiomyopathy, Dilated   IEA   7240710   OMIM   Cardiomyopathy, Dilated, 1u   IEA   7240710   OMIM   Cerebral Amyloid Angiopathy   IEA   1331525   RGD   Cerebral Hemorrhage   ISS RGD:735973 1580694   RGD   Frontotemporal Dementia   IEA   7240710   OMIM   Hemorrhage   ISS   1302520   RGD   Hidradenitis suppurativa, familial   IEA   7240710   OMIM   Pick Disease of the Brain   IEA   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 ISO RGD:3425 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 EXP   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 EXP   6480464 Tretinoin results in increased expression of PSEN1 mRNA; more ... CTD PMID:19476501 all-trans-retinoic acid affects localization EXP   6480464 Tretinoin affects the localization of PSEN1 protein CTD PMID:19476501 amiodarone increases expression EXP   6480464 Amiodarone results in increased expression of PSEN1 mRNA CTD PMID:19774075 ammonium chloride affects expression ISO RGD:3425 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 EXP   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 EXP   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 EXP   6480464 PSEN1 protein results in increased uptake of Copper CTD PMID:21239495 copper(2+) sulfate increases expression EXP   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 ISO RGD:3425 6480464 Dibutyl Phthalate results in increased expression of PSEN1 mRNA CTD PMID:21266533 dioxygen affects expression ISO RGD:3425 6480464 Oxygen deficiency affects the expression of PSEN1 mRNA CTD PMID:17963755 disodium selenite decreases expression EXP   6480464 Sodium Selenite results in decreased expression of PSEN1 mRNA CTD PMID:18175754 fenofibrate multiple interactions EXP   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 EXP   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 ISO RGD:3425 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 EXP   6480464 Lead results in decreased expression of PSEN1 mRNA CTD PMID:19921347 miconazole decreases expression ISO RGD:3425 6480464 Miconazole results in decreased expression of PSEN1 mRNA CTD PMID:22262564 oxaliplatin increases expression EXP   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 EXP   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 EXP   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 ISO RGD:3425 6480464 Simvastatin results in increased expression of PSEN1 mRNA CTD PMID:19109527 toluene affects expression ISO RGD:3425 6480464 Toluene affects the expression of PSEN1 mRNA CTD PMID:21827849 zinc atom increases uptake EXP   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 EXP   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   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 amyloid precursor protein catabolic process   TAS   2290271 PMID:15274632 HGNC PMID:15274632 amyloid precursor protein catabolic process   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 amyloid precursor protein catabolic process   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 anagen   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 autophagic vacuole assembly   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 beta-amyloid metabolic process   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 beta-amyloid metabolic process   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 blood vessel development   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 brain morphogenesis   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 Cajal-Retzius cell differentiation   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 calcium ion transmembrane transport   IMP   2290271 PMID:16959576 GOC PMID:16959576 calcium ion transport   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 cell fate specification   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 cell-cell adhesion   IMP   2290271 PMID:11953314 MGI PMID:11953314 cerebral cortex cell migration   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 choline transport   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 dorsal/ventral neural tube patterning   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 embryonic limb morphogenesis   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 endoplasmic reticulum calcium ion homeostasis   IGI UniProtKB:P49769 2290271 PMID:16959576 UniProtKB PMID:16959576 endoplasmic reticulum calcium ion homeostasis   IDA   2290271 PMID:17431506 MGI PMID:17431506 epithelial cell proliferation   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 heart looping   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 hematopoietic progenitor cell differentiation   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 intracellular signal transduction   IEA InterPro:IPR002031 2290271 GO_REF:0000002 InterPro GO_REF:0000002 L-glutamate transport   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 membrane protein ectodomain proteolysis   IDA   2290271 PMID:15274632 HGNC PMID:15274632 memory   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 mitochondrial transport   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 myeloid leukocyte differentiation   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of apoptotic process   IDA   2290271 PMID:10805794 UniProtKB PMID:10805794 negative regulation of axonogenesis   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of epidermal growth factor-activated receptor activity   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of neuron apoptotic process   IEA Ensembl:ENSRNOP00000012495 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of transcription from RNA polymerase II promoter   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of ubiquitin-protein ligase activity   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 neuron apoptotic process   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 neuron development   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 neuron migration   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 Notch receptor processing   TAS   2290271 PMID:15274632 HGNC PMID:15274632 Notch receptor processing   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 Notch receptor processing   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 Notch signaling pathway   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of apoptotic process   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of catalytic activity   IDA   2290271 PMID:15274632 HGNC PMID:15274632 positive regulation of coagulation   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of MAP kinase activity   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of proteasomal ubiquitin-dependent protein catabolic process   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of receptor recycling   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 post-embryonic development   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 protein glycosylation   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 protein maturation   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 protein processing   IDA   2290271 PMID:15274632 HGNC PMID:15274632 protein transport   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 regulation of phosphorylation   IDA   2290271 PMID:9689133 UniProtKB PMID:9689133 regulation of protein binding   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 regulation of resting membrane potential   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 regulation of synaptic plasticity   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 regulation of synaptic transmission, glutamatergic   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to DNA damage stimulus   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to oxidative stress   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 skeletal system morphogenesis   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 skin morphogenesis   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 smooth endoplasmic reticulum calcium ion homeostasis   IBA PANTHER:PTN000024458 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 smooth endoplasmic reticulum calcium ion homeostasis   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 somitogenesis   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 synaptic vesicle targeting   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 T cell activation involved in immune response   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 T cell receptor signaling pathway   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 thymus development   IEA Ensembl:ENSMUSP00000098786 2290271 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 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 axon   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 axon   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 cell cortex   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 cell surface   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 cell surface   IEA Ensembl:ENSRNOP00000012495 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 centrosome   IDA   2290271 PMID:9298903 UniProtKB PMID:9298903 ciliary rootlet   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 ciliary rootlet   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 cytoplasmic vesicle   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 dendritic shaft   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 dendritic shaft   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 endoplasmic reticulum   IDA   2290271 PMID:15274632 HGNC PMID:15274632 endoplasmic reticulum   IDA   2290271 PMID:9246482 MGI PMID:9246482 endoplasmic reticulum membrane   IEA UniProtKB-SubCell:SL-0097 2290271 GO_REF:0000039 UniProtKB GO_REF:0000039 gamma-secretase complex   IDA   2290271 PMID:10801983 UniProtKB PMID:10801983 Golgi apparatus   IDA   2290271 PMID:9246482 MGI PMID:9246482 Golgi apparatus   IDA   2290271 PMID:15274632 HGNC PMID:15274632 Golgi apparatus   IDA   2290271 PMID:9632714 UniProtKB PMID:9632714 Golgi membrane   IEA UniProtKB-SubCell:SL-0134 2290271 GO_REF:0000039 UniProtKB GO_REF:0000039 growth cone   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 growth cone   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 integral to membrane   TAS   2290271 PMID:7596406 UniProtKB PMID:7596406 integral to membrane   IEA InterPro:IPR001108 2290271 GO_REF:0000002 InterPro GO_REF:0000002 integral to membrane   IEA UniProtKB-KW:KW-0812 2290271 GO_REF:0000038 UniProtKB GO_REF:0000038 integral to plasma membrane   IDA   2290271 PMID:15274632 HGNC PMID:15274632 kinetochore   IDA   2290271 PMID:9298903 UniProtKB PMID:9298903 lysosomal membrane   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 lysosomal membrane   IEA Ensembl:ENSRNOP00000012495 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 membrane   TAS   2290271 PMID:8878479 PINC PMID:8878479 membrane raft   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 membrane raft   IEA Ensembl:ENSRNOP00000012495 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 mitochondrial inner membrane   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 mitochondrial inner membrane   IEA Ensembl:ENSRNOP00000012495 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 mitochondrion   IDA   2290271 PMID:12377771 UniProtKB PMID:12377771 neuromuscular junction   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 neuromuscular junction   IEA Ensembl:ENSRNOP00000012495 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 neuronal cell body   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 neuronal cell body   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 nuclear membrane   IDA   2290271 PMID:9298903 UniProtKB PMID:9298903 nuclear outer membrane   IDA   2290271 PMID:9246482 MGI PMID:9246482 nucleus   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 perinuclear region of cytoplasm   IBA PANTHER:PTN000024431 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 plasma membrane   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 protein complex   IEA Ensembl:ENSRNOP00000012495 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 rough endoplasmic reticulum   IDA   2290271 PMID:9632714 UniProtKB PMID:9632714 smooth endoplasmic reticulum   IDA   2290271 PMID:9632714 UniProtKB PMID:9632714 Z disc   IBA PANTHER:PTN000024431 2290271 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 2290271 GO_REF:0000002 InterPro GO_REF:0000002 aspartic-type endopeptidase activity   IEA InterPro:IPR001108 2290271 GO_REF:0000002 InterPro GO_REF:0000002 beta-catenin binding   IPI UniProtKB:Q02248 2290271 PMID:11104755 MGI PMID:11104755 beta-catenin binding   IPI UniProtKB:P35222 2290271 PMID:9632714 UniProtKB PMID:9632714 cadherin binding   IBA PANTHER:PTN000024458 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 cadherin binding   IEA Ensembl:ENSMUSP00000098786 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 calcium channel activity   IMP   2290271 PMID:16959576 UniProtKB PMID:16959576 endopeptidase activity   IDA   2290271 PMID:8755489 MGI PMID:8755489 PDZ domain binding   IPI UniProtKB:Q9NZJ7 2290271 PMID:10551805 UniProtKB PMID:10551805 protein binding   IPI UniProtKB:Q9UMX0 2290271 PMID:11076969 HGNC PMID:11076969 protein binding   IPI UniProtKB:Q63053 2290271 PMID:22036569 IntAct PMID:22036569 protein binding   IPI UniProtKB:P10636 2290271 PMID:9689133 UniProtKB PMID:9689133 protein binding   IPI UniProtKB:P05067 2290271 PMID:9223340 IntAct PMID:9223340 protein binding   IPI UniProtKB:Q9BQ95 2290271 PMID:21163940 IntAct PMID:21163940 protein binding   IPI UniProtKB:Q16543 2290271 PMID:21163940 IntAct PMID:21163940 protein binding   IPI UniProtKB:P50502 2290271 PMID:21163940 IntAct PMID:21163940 protein binding   IPI UniProtKB:P05067 2290271 PMID:21163940 IntAct PMID:21163940 protein binding   IPI UniProtKB:P49755 2290271 PMID:16641999 IntAct PMID:16641999 protein binding   IPI UniProtKB:P35222 2290271 PMID:16306047 IntAct PMID:16306047 protein binding   IPI UniProtKB:P14923 2290271 PMID:16306047 IntAct PMID:16306047 protein binding   IPI UniProtKB:Q96BI3 2290271 PMID:12297508 UniProtKB PMID:12297508 protein binding   IPI UniProtKB:Q92542 2290271 PMID:12297508 UniProtKB PMID:12297508 protein binding   IPI UniProtKB:Q8WW43 2290271 PMID:12297508 UniProtKB PMID:12297508 Molecular Pathway Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) Alzheimer disease pathway   IEA RGD:731724 6907045   KEGG hsa:05010 Alzheimer disease pathway   TAS   729595   RGD   neurotrophic factor signaling pathway   IEA RGD:731724 6907045   KEGG hsa:04722 Notch signaling pathway   TAS   2302204   RGD   Notch signaling pathway   IEA RGD:731724 6907045   KEGG hsa:04330 Notch signaling pathway   EXP   6484113   PID PID:200015 Notch signaling pathway   TAS   1334462 RGD   syndecan signaling pathway   EXP   6484113   PID PID:200198 Wnt signaling pathway   IEA RGD:731724 6907045   KEGG hsa: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) Disease Annotations Alzheimer Disease  (IEA,ISS) Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia  (IEA) Cardiomyopathy, Dilated  (IEA) Cardiomyopathy, Dilated, 1u  (IEA) Cerebral Amyloid Angiopathy  (IEA) Cerebral Hemorrhage  (ISS) Frontotemporal Dementia  (IEA) Hemorrhage  (ISS) Hidradenitis suppurativa, familial  (IEA) Pick Disease of the Brain  (IEA) Gene-Chemical Interaction Annotations 2,3,7,8-tetrachlorodibenzodioxine  (ISO) 2,6-dinitrotoluene  (ISO) 3,4-methylenedioxymethamphetamine  (ISO) 4,4'-diaminodiphenylmethane  (ISO) 5-azacytidine  (ISO) all-trans-retinoic acid  (EXP,ISO) amiodarone  (EXP) ammonium chloride  (ISO) arsenite(3-)  (ISO) cadmium dichloride  (EXP) copper atom  (EXP,ISO) copper(0)  (EXP,ISO) copper(2+) sulfate  (EXP) diazoxide  (ISO) dibutyl phthalate  (ISO) dioxygen  (ISO) disodium selenite  (EXP) fenofibrate  (EXP) glycine betaine  (ISO) Goe 6976  (EXP,ISO) isoflurane  (ISO) isoprenaline  (ISO) lead(0)  (EXP) miconazole  (ISO) oxaliplatin  (EXP) paracetamol  (ISO) phenobarbital  (ISO) phorbol 12,13-dibutanoate  (EXP) progesterone  (ISO) propiconazole  (ISO) S-adenosyl-L-homocysteine  (ISO) silicon dioxide  (ISO) simvastatin  (ISO) toluene  (ISO) zinc atom  (EXP,ISO) zinc(0)  (EXP,ISO) Gene Ontology Annotations Biological Process activation of MAPKK activity  (IEA) amyloid precursor protein catabolic process  (IBA,IEA,TAS) anagen  (IEA) autophagic vacuole assembly  (IEA) beta-amyloid metabolic process  (IBA,IEA) blood vessel development  (IEA) brain morphogenesis  (IEA) Cajal-Retzius cell differentiation  (IEA) calcium ion transmembrane transport  (IMP) calcium ion transport  (IBA) cell fate specification  (IEA) cell-cell adhesion  (IMP) cerebral cortex cell migration  (IEA) choline transport  (IEA) dorsal/ventral neural tube patterning  (IEA) embryonic limb morphogenesis  (IEA) endoplasmic reticulum calcium ion homeostasis  (IDA,IGI) epithelial cell proliferation  (IEA) heart looping  (IEA) hematopoietic progenitor cell differentiation  (IEA) intracellular signal transduction  (IEA) L-glutamate transport  (IEA) membrane protein ectodomain proteolysis  (IDA) memory  (IEA) mitochondrial transport  (IEA) myeloid leukocyte differentiation  (IEA) negative regulation of apoptotic process  (IDA) negative regulation of axonogenesis  (IEA) negative regulation of epidermal growth factor-activated receptor activity  (IEA) negative regulation of neuron apoptotic process  (IEA) negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  (IEA) negative regulation of transcription from RNA polymerase II promoter  (IEA) negative regulation of ubiquitin-protein ligase activity  (IEA) neuron apoptotic process  (IEA) neuron development  (IEA) neuron migration  (IEA) Notch receptor processing  (IBA,IEA,TAS) Notch signaling pathway  (IEA) positive regulation of apoptotic process  (IEA) positive regulation of catalytic activity  (IDA) positive regulation of coagulation  (IEA) positive regulation of MAP kinase activity  (IEA) positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IEA) positive regulation of receptor recycling  (IEA) post-embryonic development  (IEA) protein glycosylation  (IEA) protein maturation  (IEA) protein processing  (IDA) protein transport  (IEA) regulation of phosphorylation  (IDA) regulation of protein binding  (IEA) regulation of resting membrane potential  (IEA) regulation of synaptic plasticity  (IEA) regulation of synaptic transmission, glutamatergic  (IEA) response to DNA damage stimulus  (IEA) response to oxidative stress  (IEA) skeletal system morphogenesis  (IEA) skin morphogenesis  (IEA) smooth endoplasmic reticulum calcium ion homeostasis  (IBA,IEA) somitogenesis  (IEA) synaptic vesicle targeting  (IEA) T cell activation involved in immune response  (IEA) T cell receptor signaling pathway  (IEA) thymus development  (IEA) Cellular Component apical plasma membrane  (IBA) axon  (IBA,IEA) cell cortex  (IBA) cell surface  (IBA,IEA) centrosome  (IDA) ciliary rootlet  (IBA,IEA) cytoplasmic vesicle  (IEA) dendritic shaft  (IBA,IEA) endoplasmic reticulum  (IDA) endoplasmic reticulum membrane  (IEA) gamma-secretase complex  (IDA) Golgi apparatus  (IDA) Golgi membrane  (IEA) growth cone  (IBA,IEA) integral to membrane  (IEA,TAS) integral to plasma membrane  (IDA) kinetochore  (IDA) lysosomal membrane  (IBA,IEA) membrane  (TAS) membrane raft  (IBA,IEA) mitochondrial inner membrane  (IBA,IEA) mitochondrion  (IDA) neuromuscular junction  (IBA,IEA) neuronal cell body  (IBA,IEA) nuclear membrane  (IDA) nuclear outer membrane  (IDA) nucleus  (IEA) perinuclear region of cytoplasm  (IBA) plasma membrane  (IEA) protein complex  (IEA) rough endoplasmic reticulum  (IDA) smooth endoplasmic reticulum  (IDA) Z disc  (IBA) Molecular Function aspartic-type endopeptidase activity  (IEA) beta-catenin binding  (IPI) cadherin binding  (IBA,IEA) calcium channel activity  (IMP) endopeptidase activity  (IDA) PDZ domain binding  (IPI) protein binding  (IPI) Molecular Pathway Annotations Alzheimer disease pathway  (IEA,TAS) neurotrophic factor signaling pathway  (IEA) Notch signaling pathway  (EXP,IEA,TAS) syndecan signaling pathway  (EXP) 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) References - curated 1. Becker KG, etal., Nat Genet 2004 May;36(5):431-2. 2. Bresciani LG, etal., Mol Cell Neurosci 2002 Oct;21(2):239-49. 3. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74. 4. GOA_HUMAN data from the GO Consortium 5. KEGG 6. Pipeline to import KEGG annotations from KEGG into RGD Pathway Ontology 7. Pipeline to import Pathway Interaction Database annotations from NCI into RGD 8. RGD automated import pipeline for gene-chemical interactions 9. RGD Automated Pipelines 10. Schweisguth F Curr Biol 2004 Feb 3;14(3):R129-38. 11. Shen J, etal., Cell 1997 May 16;89(4):629-39. 12. Sherrington R, etal., Nature 1995 Jun 29;375(6534):754-60. 13. Wen PH, etal., Development. 2005 Sep;132(17):3873-83. Epub 2005 Aug 3. References - uncurated PubMed 10025789   10037471   10069390   10077672   10090481   10092585   10200054   10206644   10206645   10208579   10208590   10341227   10366599   10369872   10401002   10439444   10441572   10446169   10447269   10521466   10527805   10533070   10545183   10551805   10587643   10593990   10631141   10635315   10801777   10801983   10805794   10811883   10854253   10891589   10899933   10993067   11027672   11030797   11076969   11094121   11104755   11110974   11129109   11140838   11168528   11200686   11226248   11389157   11436125   11444983   11504726   11518718   11524469   11568920   11710891   11719200   11738826   11744687   11755019   11757955   11775232   11799129   11827452   11836371   11847232   11876645   11891288   11904448   11905990   11912199   11920851   11927360   11943765   11953314   11973477   11987239   12048239   12048259   12050157   12056836   12058025   12070348   12111439   12112163   12119298   12121968   12147673   12192622   12196555   12198112   12207970   12214059   12218704   12230303   12297048   12297508   12354302   12374741   12377771   12413003   12435726   12444985   12460547   12470641   12471034   12477932   12484344   12493737   12495082   12508121   12522139   12535650   12551931   12603837   12609057   12629514   12639958   12660785   12668610   12679784   12686406   12740439   12742741   12752408   12787561   12794186   12805290   12817569   12821663   12843241   12846562   12850546   12885573   12885769   12901838   12925374   12935881   12960155   1303289   1349467   13678586   1411576   14502086   14504279   14515347   14550564   14572442   14576165   14581682   14590205   14625299   14645205   14702039   14717705   14741365   14756819   14759258   14769392   14993906   15003276   15004326   15037614   15087467   15109302   15115757   15119739   15122701   15123598   15123653   15147205   15159497   15192701   15205973   15209417   15210705   15240571   15257293   15272895   15274632   15294909   15308304   15322084   15322109   15340889   15341515   15345747   15448688   15469450   15474363   15476169   15480851   15480879   15489334   15534001   15534188   15534260   15537629   15549135   15569674   15591316   15622541   15629423   15703411   15721744   15722417   15732120   15743767   15764367   15764596   15776278   15843437   15851849   15866047   15908021   15917251   15936948   15946688   15951428   15975068   15975090   16006137   16014629   16046406   16116115   16126725   16128583   16135086   16139258   16234243   16234244   16267640   16305624   16306047   16344340   16344560   16376112   16388371   16401857   16407539   16423463   16511561   16569643   16574645   16605258   16620965   16628450   16630834   16641999   16735229   16756946   16813565   16814287   16815845   16846981   16897084   16908988   16916581   16938285   16941492   16952411   16959576   17081983   17088253   17099291   17108181   17158800   17192785   17207965   17210196   17229472   17259169   17268504   17268505   17309564   17320044   17349981   17360711   17366635   17389597   17401156   17405936   17412506   17431506   17489097   17502474   17507029   17553989   17560791   17573346   17588625   17594345   17627113   17630980   17632280   17645236   17718701   17719017   17852592   17942194   17962197   17968601   17986144   18024701   18028191   18090315   18174159   18239458   18293935   18299393   18314228   18317569   18320103   18350357   18376127   18403054   18430735   18437002   18445230   18479822   18525293   18579078   18580586   18587238   18591429   18637955   18667258   18667537   18706205   18762245   18790549   18801744   18830724   18842294   18957849   18971484   18996842   19001354   19012753   19015863   19017784   19036728   19111578   19221408   19232479   19260824   19272356   19276550   19276551   19292975   19650138   19667325   19675248   19682973   19710022   19796846   19797784   19833411   19834068   19849793   19853643   19885829   19889475   19889971   19924286   20008141   20008660   20009122   20018629   20034479   20036849   20052609   20106965   20158511   20160458   20164095   20168091   20219685   20237298   20299451   20301340   20301414   20301486   20301678   20307581   20379614   20388456   20399254   20413895   20418378   20445084   20456003   20460383   20481270   20484632   20534741   20541250   20594621   20677014   20701429   20724034   20806406   20847418   20847436   20858963   20858974   20880607   20929727   20970889   21033353   21115843   21139048   21143716   21144619   21163940   21238544   21277951   21296022   21297272   21305049   21323574   21422519   21545304   21559374   21621296   21656036   21726674   21762767   21784978   21852538   21860086   21906983   21914807   21919498   21929538   21951279   21959359   21988832   22014620   22027014   22045484   22045496   22074918   22133015   22214483   22230888   22297172   22311977   22312439   22393443   22426017   22443192   22459153   22461631   22503161   22505025   22508690   22529981   22572737   22607268   22622421   22634208   22689582   22753898   22755192   22766738   22810102   22879628   22939629   22975585   23000965   23137948   23137949   7550356   7623584   7651536   8125298   8574969   8634711   8634712   8641442   8733303   8742474   8755489   8804415   8837617   8875251   8878479   8922407   8931704   9007311   9013610   9052708   9070286   9073509   9144240   9172170   9173929   9223106   9223340   9225696   9246482   9298817   9298903   9384602   9436726   9437013   9443865   9485372   9507958   9521418   9521423   9544835   9632714   9689133   9712537   9719376   9738936   9771752   9831473   9833068   9851443   9851450   9852041   9915968 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   (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 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 Position Markers D14S43   Map Chr Position Strand Source Human Whitehead-YAC Contig Map 14     UniSTS Human Genome Assembly HuRef 14 55,112,163 - 55,112,321   UniSTS Human Genome Assembly GRCh37 14 74,943,685 - 74,943,869   UniSTS Human Celera Assembly 14 54,982,072 - 54,982,256   RGD Human Genome Assembly Build 36 14 74,013,438 - 74,013,622   RGD Human Cytogenetic Map 14 q24.3   UniSTS Marshfield Human Genetic Map 14 84.16   UniSTS Marshfield Human Genetic Map 14 84.16   RGD G38136   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,779,025 - 53,779,221   UniSTS Human Genome Assembly GRCh37 14 73,613,349 - 73,613,545   UniSTS Human Celera Assembly 14 53,676,631 - 53,676,827   RGD Human Genome Assembly Build 36 14 72,683,102 - 72,683,298   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38218   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,783,711 - 53,783,907   UniSTS Human Genome Assembly GRCh37 14 73,618,035 - 73,618,231   UniSTS Human Celera Assembly 14 53,681,316 - 53,681,512   RGD Human Genome Assembly Build 36 14 72,687,788 - 72,687,984   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38175   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,801,074 - 53,801,332   UniSTS Human Genome Assembly GRCh37 14 73,635,316 - 73,635,574   UniSTS Human Celera Assembly 14 53,698,595 - 53,698,853   RGD Human Genome Assembly Build 36 14 72,705,069 - 72,705,327   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38215   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,776,769 - 53,777,021   UniSTS Human Genome Assembly GRCh37 14 73,611,092 - 73,611,344   UniSTS Human Celera Assembly 14 53,674,374 - 53,674,626   RGD Human Genome Assembly Build 36 14 72,680,845 - 72,681,097   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38068   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,782,167 - 53,782,417   UniSTS Human Genome Assembly GRCh37 14 73,616,490 - 73,616,740   UniSTS Human Celera Assembly 14 53,679,772 - 53,680,022   RGD Human Genome Assembly Build 36 14 72,686,243 - 72,686,493   RGD Human Cytogenetic Map 14 q24.3   UniSTS SHGC-78932   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,805,511 - 53,805,810   UniSTS Human Genome Assembly GRCh37 14 73,639,753 - 73,640,052   UniSTS Human Celera Assembly 14 53,703,032 - 53,703,331   RGD Human Genome Assembly Build 36 14 72,709,506 - 72,709,805   RGD Human Cytogenetic Map 14 q24.3   UniSTS D14S1438   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,806,046 - 53,806,226   UniSTS Human Genome Assembly GRCh37 14 73,640,288 - 73,640,468   UniSTS Human Celera Assembly 14 53,703,567 - 53,703,747   RGD Human Genome Assembly Build 36 14 72,710,041 - 72,710,221   RGD Human Cytogenetic Map 14 q24.3   UniSTS D14S1439   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,818,953 - 53,819,181   UniSTS Human Genome Assembly GRCh37 14 73,653,502 - 73,653,730   UniSTS Human Celera Assembly 14 53,716,733 - 53,716,961   RGD Human Genome Assembly Build 36 14 72,723,255 - 72,723,483   RGD Human Cytogenetic Map 14 q24.3   UniSTS D14S1440   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,824,913 - 53,825,016   UniSTS Human Genome Assembly GRCh37 14 73,659,462 - 73,659,565   UniSTS Human Celera Assembly 14 53,722,693 - 53,722,796   RGD Human Genome Assembly Build 36 14 72,729,215 - 72,729,318   RGD Human Cytogenetic Map 14 q24.3   UniSTS D14S1442   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,849,419 - 53,849,634   UniSTS Human Genome Assembly GRCh37 14 73,683,907 - 73,684,122   UniSTS Human Celera Assembly 14 53,747,138 - 53,747,353   RGD Human Genome Assembly Build 36 14 72,753,660 - 72,753,875   RGD Human Cytogenetic Map 14 q24.3   UniSTS D14S1264   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,820,617 - 53,820,717   UniSTS Human Genome Assembly GRCh37 14 73,655,166 - 73,655,266   UniSTS Human Celera Assembly 14 53,718,397 - 53,718,497   RGD Human Genome Assembly Build 36 14 72,724,919 - 72,725,019   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38220   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,801,261 - 53,801,422   UniSTS Human Genome Assembly HuRef 5 32,947,631 - 32,947,863   UniSTS Human Genome Assembly GRCh37 14 73,635,503 - 73,635,664   UniSTS Human Genome Assembly GRCh37 5 32,978,411 - 32,978,643   UniSTS Human Celera Assembly 14 53,698,782 - 53,698,943   UniSTS Human Celera Assembly 5 32,860,015 - 32,860,247   RGD Human Genome Assembly Build 36 5 33,014,168 - 33,014,400   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38066   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,845,657 - 53,845,857   UniSTS Human Genome Assembly GRCh37 14 73,680,145 - 73,680,345   UniSTS Human Celera Assembly 14 53,743,376 - 53,743,576   RGD Human Genome Assembly Build 36 14 72,749,898 - 72,750,098   RGD Human Cytogenetic Map 14 q24.3   UniSTS SHGC-132632   Map Chr Position Strand Source Human TNG Radiation Hybrid Map 14 26432.0   UniSTS Human Genome Assembly HuRef 14 53,855,589 - 53,855,879   UniSTS Human Genome Assembly GRCh37 14 73,690,075 - 73,690,365   UniSTS Human Celera Assembly 14 53,753,308 - 53,753,598   RGD Human Genome Assembly Build 36 14 72,759,828 - 72,760,118   RGD Human Cytogenetic Map 14 q24.3   UniSTS PSEN1_232   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,851,769 - 53,852,614   UniSTS Human Genome Assembly GRCh37 14 73,686,255 - 73,687,100   UniSTS Human Celera Assembly 14 53,749,488 - 53,750,333   RGD Human Genome Assembly Build 36 14 72,756,008 - 72,756,853   RGD SHGC-36769   Map Chr Position Strand Source Human GeneMap99-G3 RH Map 14 2702.0   UniSTS Human Genome Assembly HuRef 14 53,855,760 - 53,855,891   UniSTS Human Genome Assembly GRCh37 14 73,690,246 - 73,690,377   UniSTS Human Celera Assembly 14 53,753,479 - 53,753,610   RGD Human Genome Assembly Build 36 14 72,759,999 - 72,760,130   RGD Human Cytogenetic Map 14 q24.3   UniSTS G35565   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,812,155 - 53,812,335   UniSTS Human Genome Assembly GRCh37 14 73,646,397 - 73,646,577   UniSTS Human Celera Assembly 14 53,709,676 - 53,709,856   RGD Human Genome Assembly Build 36 14 72,716,150 - 72,716,330   RGD Human Cytogenetic Map 14 q24.3   UniSTS SHGC-31609   Map Chr Position Strand Source Human GeneMap99-G3 RH Map 14 2708.0   UniSTS Human NCBI RH Map 14 771.7   UniSTS Human Whitehead-RH Map 14 258.8   UniSTS Human GeneMap99-GB4 RH Map 14 191.19   UniSTS Human Stanford-G3 RH Map 14 2660.0   UniSTS Human TNG Radiation Hybrid Map 14 26432.0   UniSTS Human Genome Assembly HuRef 14 53,851,600 - 53,851,801   UniSTS Human Genome Assembly GRCh37 14 73,686,086 - 73,686,287   UniSTS Human Celera Assembly 14 53,749,319 - 53,749,520   RGD Human Genome Assembly Build 36 14 72,755,839 - 72,756,040   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38198   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,811,666 - 53,811,767   UniSTS Human Genome Assembly GRCh37 14 73,645,908 - 73,646,009   UniSTS Human Celera Assembly 14 53,709,187 - 53,709,288   RGD Human Genome Assembly Build 36 14 72,715,661 - 72,715,762   RGD Human Cytogenetic Map 14 q24.3   UniSTS G35665   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,788,993 - 53,789,089   UniSTS Human Genome Assembly GRCh37 14 73,623,230 - 73,623,326   UniSTS Human Celera Assembly 14 53,686,511 - 53,686,607   RGD Human Genome Assembly Build 36 14 72,692,983 - 72,693,079   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38129   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,770,486 - 53,770,566   UniSTS Human Genome Assembly GRCh37 14 73,604,805 - 73,604,885   UniSTS Human Celera Assembly 14 53,668,091 - 53,668,171   RGD Human Genome Assembly Build 36 14 72,674,558 - 72,674,638   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38324   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,778,898 - 53,779,055   UniSTS Human Genome Assembly GRCh37 14 73,613,222 - 73,613,379   UniSTS Human Celera Assembly 14 53,676,504 - 53,676,661   RGD Human Genome Assembly Build 36 14 72,682,975 - 72,683,132   RGD Human Cytogenetic Map 14 q24.3   UniSTS G35501   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,815,458 - 53,815,581   UniSTS Human Genome Assembly GRCh37 14 73,649,700 - 73,649,823   UniSTS Human Celera Assembly 14 53,712,979 - 53,713,102   RGD Human Genome Assembly Build 36 14 72,719,453 - 72,719,576   RGD Human Cytogenetic Map 14 q24.3   UniSTS WI-11404   Map Chr Position Strand Source Human NCBI RH Map 14 818.9   UniSTS Human Whitehead-RH Map 14 259.0   UniSTS Human GeneMap99-GB4 RH Map 14 189.67   UniSTS Human Genome Assembly HuRef 14 53,845,460 - 53,845,609   UniSTS Human Genome Assembly GRCh37 14 73,679,948 - 73,680,097   UniSTS Human Celera Assembly 14 53,743,179 - 53,743,328   RGD Human Genome Assembly Build 36 14 72,749,701 - 72,749,850   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38176   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,773,975 - 53,774,131   UniSTS Human Genome Assembly GRCh37 14 73,608,298 - 73,608,454   UniSTS Human Celera Assembly 14 53,671,580 - 53,671,736   RGD Human Genome Assembly Build 36 14 72,678,051 - 72,678,207   RGD Human Cytogenetic Map 14 q24.3   UniSTS A005E05   Map Chr Position Strand Source Human Whitehead-RH Map 14 258.8   UniSTS Human GeneMap99-GB4 RH Map 14 191.19   UniSTS Human Genome Assembly HuRef 14 53,855,661 - 53,855,801   UniSTS Human Genome Assembly GRCh37 14 73,690,147 - 73,690,287   UniSTS Human Celera Assembly 14 53,753,380 - 53,753,520   RGD Human Genome Assembly Build 36 14 72,759,900 - 72,760,040   RGD Human Cytogenetic Map 14 q24.3   UniSTS RH77790   Map Chr Position Strand Source Human NCBI RH Map 14 803.2   UniSTS Human GeneMap99-GB4 RH Map 14 187.83   UniSTS Human Genome Assembly HuRef 14 53,819,682 - 53,819,831   UniSTS Human Genome Assembly GRCh37 14 73,654,231 - 73,654,380   UniSTS Human Celera Assembly 14 53,717,462 - 53,717,611   RGD Human Genome Assembly Build 36 14 72,723,984 - 72,724,133   RGD Human Cytogenetic Map 14 q24.3   UniSTS SGC34362   Map Chr Position Strand Source Human NCBI RH Map 14 816.7   UniSTS Human Whitehead-RH Map 14 257.6   UniSTS Human GeneMap99-GB4 RH Map 14 183.36   UniSTS Human Genome Assembly HuRef 14 53,819,807 - 53,819,906   UniSTS Human Genome Assembly GRCh37 14 73,654,356 - 73,654,455   UniSTS Human Celera Assembly 14 53,717,587 - 53,717,686   RGD Human Genome Assembly Build 36 14 72,724,109 - 72,724,208   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38323   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,855,300 - 53,855,568   UniSTS Human Genome Assembly GRCh37 14 73,689,786 - 73,690,054   UniSTS Human Celera Assembly 14 53,753,019 - 53,753,287   RGD Human Genome Assembly Build 36 14 72,759,539 - 72,759,807   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38182   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,793,744 - 53,793,893   UniSTS Human Genome Assembly GRCh37 14 73,627,985 - 73,628,134   UniSTS Human Celera Assembly 14 53,691,267 - 53,691,416   RGD Human Genome Assembly Build 36 14 72,697,738 - 72,697,887   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38272   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,846,409 - 53,846,574   UniSTS Human Genome Assembly GRCh37 14 73,680,897 - 73,681,062   UniSTS Human Celera Assembly 14 53,744,128 - 53,744,293   RGD Human Genome Assembly Build 36 14 72,750,650 - 72,750,815   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38184   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,853,446 - 53,853,695   UniSTS Human Genome Assembly GRCh37 14 73,687,932 - 73,688,181   UniSTS Human Celera Assembly 14 53,751,165 - 53,751,414   RGD Human Genome Assembly Build 36 14 72,757,685 - 72,757,934   RGD Human Cytogenetic Map 14 q24.3   UniSTS G38203   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,791,722 - 53,791,889   UniSTS Human Genome Assembly GRCh37 14 73,625,964 - 73,626,131   UniSTS Human Celera Assembly 14 53,689,245 - 53,689,412   RGD Human Genome Assembly Build 36 14 72,695,717 - 72,695,884   RGD Human Cytogenetic Map 14 q24.3   UniSTS D15S1477   Map Chr Position Strand Source Human Cytogenetic Map 4 q32-q35   UniSTS Human Cytogenetic Map 10 p12.1   UniSTS Human Cytogenetic Map 10 p12.1-p11.2   UniSTS Human Cytogenetic Map 15 q13   UniSTS Human Cytogenetic Map 21 q21.3   UniSTS Human Cytogenetic Map 12 p13.3   UniSTS Human Cytogenetic Map 1 q25   UniSTS Human Cytogenetic Map 20 q13.3   UniSTS Human Cytogenetic Map 14 q11.2   UniSTS Human Cytogenetic Map 11 p15.4   UniSTS Human Cytogenetic Map 12 q12   UniSTS Human Cytogenetic Map 3 p24.3   UniSTS Human Cytogenetic Map 5 q14   UniSTS Human Cytogenetic Map 3 q29   UniSTS Human Cytogenetic Map 1 p36.13   UniSTS Human Cytogenetic Map 7 q36.3   UniSTS Human Cytogenetic Map 7 p21.3   UniSTS Human Cytogenetic Map 1 q22   UniSTS Human Cytogenetic Map 14 q32.33   UniSTS Human Cytogenetic Map 14 q23.3   UniSTS Human Cytogenetic Map 19 q13.4   UniSTS Human Cytogenetic Map 2 q11.2   UniSTS Human Cytogenetic Map 14 q31-q32   UniSTS Human Cytogenetic Map 10 q25.2   UniSTS Human Cytogenetic Map 16 p13.13-p13.12   UniSTS Human Cytogenetic Map 3 q12.3   UniSTS Human Cytogenetic Map 14 q24.3   UniSTS Human Cytogenetic Map 10 p15.3   UniSTS Human Cytogenetic Map 2 p22.1   UniSTS Human Cytogenetic Map 13 q13.1   UniSTS Human Cytogenetic Map 5 q23.3   UniSTS Human Cytogenetic Map 15 q21.1   UniSTS Human Cytogenetic Map 19 q13.42   UniSTS Human Cytogenetic Map 17 q21   UniSTS Human Cytogenetic Map 3 p21.3   UniSTS Human Cytogenetic Map 12 q24.13   UniSTS Human Cytogenetic Map 4 q21.1   UniSTS Human Cytogenetic Map 19 q13.3   UniSTS Human Cytogenetic Map 2 q37.3   UniSTS Human Cytogenetic Map 2 p15   UniSTS Human Cytogenetic Map 17 q25.3   UniSTS Human Cytogenetic Map 19 p13   UniSTS Human Cytogenetic Map 4 p16.3   UniSTS Human Cytogenetic Map 1 p35.1   UniSTS Human Cytogenetic Map 17 q11.2   UniSTS Human Cytogenetic Map 1 p31.3   UniSTS Human Cytogenetic Map 20 q13.31   UniSTS Human Cytogenetic Map 10 q22   UniSTS Human Cytogenetic Map 1 q41   UniSTS Human Cytogenetic Map 9 q34.3   UniSTS Human Cytogenetic Map 9 p13.3   UniSTS Human Cytogenetic Map 12 q24.31   UniSTS Human Cytogenetic Map 2 p13.1   UniSTS Human Cytogenetic Map 19 q13.12   UniSTS Human Cytogenetic Map 10 q24.2   UniSTS Human Cytogenetic Map 1 q42.11   UniSTS Human Cytogenetic Map 1 q32.1   UniSTS Human Cytogenetic Map 2 p23.3   UniSTS Human Cytogenetic Map 2 p13.3   UniSTS Human Cytogenetic Map 7 p22.1   UniSTS Human Cytogenetic Map 11 q24   UniSTS Human Cytogenetic Map 6 q16.2   UniSTS Human Cytogenetic Map 2 q14   UniSTS Human Cytogenetic Map 19 q13.1   UniSTS Human Cytogenetic Map 16 q24   UniSTS Human Cytogenetic Map X q26.3   UniSTS Human Cytogenetic Map 10 q23.1   UniSTS Human Cytogenetic Map 3 p21.31   UniSTS Human Cytogenetic Map 4 q12   UniSTS Human Cytogenetic Map 19 p13.2   UniSTS Human Cytogenetic Map 2 p11.2   UniSTS Human Cytogenetic Map 7 q21.2   UniSTS Human Cytogenetic Map 17 q22.2   UniSTS Human Cytogenetic Map 8 q22.3   UniSTS Human Cytogenetic Map 4 q25   UniSTS Human Cytogenetic Map 11 q14.2   UniSTS Human Cytogenetic Map 19 p13.3   UniSTS Human Cytogenetic Map 5 q23   UniSTS Human Cytogenetic Map 16 p13.3   UniSTS Human Cytogenetic Map 16 q22.1   UniSTS Human Cytogenetic Map 13 q12.1   UniSTS Human Cytogenetic Map 6 p21.32   UniSTS Human Cytogenetic Map 2 q31   UniSTS Human Cytogenetic Map 10 p14   UniSTS Human Cytogenetic Map 6 p21.3   UniSTS Human Cytogenetic Map 3 p21.2   UniSTS Human Cytogenetic Map 1 q21.3   UniSTS Human Cytogenetic Map 19 p12   UniSTS Human Cytogenetic Map 7 q22.1   UniSTS Human Cytogenetic Map 14 q12   UniSTS Human Cytogenetic Map 8 p11.22   UniSTS Human Cytogenetic Map 19 q13.32   UniSTS Human Cytogenetic Map 17 q21.31   UniSTS Human Cytogenetic Map 4 q28.2   UniSTS Human Cytogenetic Map 1 p13.2   UniSTS Human Cytogenetic Map 22 q12.3   UniSTS Human Cytogenetic Map 19 p13.11   UniSTS Human Cytogenetic Map 16 p12.3   UniSTS Human Cytogenetic Map 15 q22.31   UniSTS Human Cytogenetic Map 2 q31.1   UniSTS Human Cytogenetic Map 2 q33.2   UniSTS Human Cytogenetic Map 1 p34.3   UniSTS Human Cytogenetic Map 1 p36.31   UniSTS Human Cytogenetic Map 3 q21.3   UniSTS Human Cytogenetic Map 17 q25   UniSTS Human Cytogenetic Map 11 p13   UniSTS Human Cytogenetic Map 12 q13.3   UniSTS Human Cytogenetic Map 1 p36.21   UniSTS Human Cytogenetic Map 1 p35.3   UniSTS Human Cytogenetic Map 19 q13.2   UniSTS Human Cytogenetic Map 4 p14   UniSTS Human Cytogenetic Map 15 q11-q13   UniSTS Human Cytogenetic Map 19 p   UniSTS Human Cytogenetic Map 7 q22   UniSTS Human Cytogenetic Map 9 q22.3   UniSTS Human Cytogenetic Map 3 p25.3   UniSTS Human Cytogenetic Map 11 q13   UniSTS Human Cytogenetic Map 8 q11.21   UniSTS Human Cytogenetic Map 15 q15   UniSTS Human Cytogenetic Map 15 q15.1   UniSTS Human Cytogenetic Map 2 q22.3   UniSTS Human Cytogenetic Map 1 p34.2   UniSTS Human Cytogenetic Map 5 q13.2   UniSTS Human Cytogenetic Map 10 q23.2   UniSTS Human Cytogenetic Map 7 p22.3   UniSTS Human Cytogenetic Map 9 q34.13   UniSTS Human Cytogenetic Map 1 q32   UniSTS Human Cytogenetic Map 1 q31.3   UniSTS Human Cytogenetic Map 4 q35   UniSTS Human Cytogenetic Map 9 p13   UniSTS Human Cytogenetic Map 3 p24.2   UniSTS Human Cytogenetic Map 3 q23   UniSTS Human Cytogenetic Map 6 q25.2-q25.3   UniSTS Human Cytogenetic Map 15 q21   UniSTS Human Cytogenetic Map 16 p11.2   UniSTS Human Cytogenetic Map 1 q42.3   UniSTS Human Cytogenetic Map 7 q22.3   UniSTS Human Cytogenetic Map 9 q34.2   UniSTS Human Cytogenetic Map 17 q24   UniSTS Human Cytogenetic Map 17 q25.1   UniSTS Human Cytogenetic Map 19 q13.3-q13.4   UniSTS Human Cytogenetic Map 22 q11.23   UniSTS Human Cytogenetic Map 3 q21   UniSTS Human Cytogenetic Map 20 q13   UniSTS Human Cytogenetic Map 22 q12.2   UniSTS Human Cytogenetic Map 19 p13.12   UniSTS Human Cytogenetic Map 14 q22.1   UniSTS Human Cytogenetic Map 11 q23.1   UniSTS Human Cytogenetic Map 17 q22-q23   UniSTS Human Cytogenetic Map X p22.33   UniSTS Human Cytogenetic Map Y p11.3   UniSTS Human Cytogenetic Map 6 p21.1   UniSTS Human Cytogenetic Map 22 q13.1   UniSTS Human Cytogenetic Map 7 p15.2   UniSTS Human Cytogenetic Map 1 q21   UniSTS Human Cytogenetic Map 12 q23.1   UniSTS Human Cytogenetic Map 16 q12.2   UniSTS Human Cytogenetic Map 13 q11   UniSTS Human Cytogenetic Map X p22.3   UniSTS Human Cytogenetic Map 3 p25-p24   UniSTS Human Cytogenetic Map 22 q13.2   UniSTS Human Cytogenetic Map 2 p21   UniSTS Human Cytogenetic Map X q22.1   UniSTS Human Cytogenetic Map X p11.3   UniSTS Human Cytogenetic Map 3 p12   UniSTS Human Cytogenetic Map 1 q25.1   UniSTS Human Cytogenetic Map 17 p11.2   UniSTS Human Cytogenetic Map X p11.2   UniSTS Human Cytogenetic Map 11 q13.1-q13.2   UniSTS Human Cytogenetic Map 8 q24.3   UniSTS Human Cytogenetic Map 17 p13   UniSTS Human Cytogenetic Map 5 p13.2   UniSTS Human Cytogenetic Map 7 q21-q22   UniSTS Human Cytogenetic Map 9 q34.11   UniSTS Human Cytogenetic Map 3 q26.2   UniSTS Human Cytogenetic Map 20 q11.22   UniSTS Human Cytogenetic Map 8 p22   UniSTS Human Cytogenetic Map 4 q35.1   UniSTS Human Cytogenetic Map 10 q23.31   UniSTS Human Cytogenetic Map 6 p21.1-p12.2   UniSTS Human Cytogenetic Map 12 q14.1   UniSTS Human Cytogenetic Map 7 p11.2   UniSTS Human Cytogenetic Map 11 p15.5   UniSTS Human Cytogenetic Map 1 p35   UniSTS Human Cytogenetic Map 12 q   UniSTS Human Cytogenetic Map 1 q21.2   UniSTS Human Cytogenetic Map 8 q23.1   UniSTS Human Cytogenetic Map 1 p13.3   UniSTS Human Cytogenetic Map 14 q11.1   UniSTS Human Cytogenetic Map 21 q22.11   UniSTS Human Cytogenetic Map 3 p14.1   UniSTS Human Cytogenetic Map 5 q31   UniSTS Human Cytogenetic Map 19 p13.3-p13.2   UniSTS Human Cytogenetic Map 1 p36.11-p34.2   UniSTS Human Cytogenetic Map 9 p22   UniSTS Human Cytogenetic Map 1 q42.12   UniSTS Human Cytogenetic Map 2 q35   UniSTS Human Cytogenetic Map 9 p22.1   UniSTS Human Cytogenetic Map 11 q24.2   UniSTS Human Cytogenetic Map 12 q15   UniSTS Human Cytogenetic Map 17 p13.2   UniSTS Human Cytogenetic Map 8 q22.1   UniSTS Human Cytogenetic Map 9 q21.13   UniSTS Human Cytogenetic Map 11 p15.1   UniSTS Human Cytogenetic Map 1 p32.3   UniSTS Human Cytogenetic Map 12 q21.1   UniSTS Human Cytogenetic Map 20 q13.33   UniSTS Human Cytogenetic Map 3 p21   UniSTS Human Cytogenetic Map 20 p11.23   UniSTS Human Cytogenetic Map 15 q15.2   UniSTS Human Cytogenetic Map 8 p21.1   UniSTS Human Cytogenetic Map 1 p36.33   UniSTS Human Cytogenetic Map 18 q12.1   UniSTS Human Cytogenetic Map 8 q12.1   UniSTS Human Cytogenetic Map 14 q21.2   UniSTS Human Cytogenetic Map 3 q27.1   UniSTS Human Cytogenetic Map 3 p14.3   UniSTS Human Cytogenetic Map 17 p13.1   UniSTS Human Cytogenetic Map 6 p22.1   UniSTS Human Cytogenetic Map 12 p13.2   UniSTS Human Cytogenetic Map 12 q13.13   UniSTS Human Cytogenetic Map 15 q21.3   UniSTS Human Cytogenetic Map X p11.22   UniSTS Human Cytogenetic Map 12 p12   UniSTS Human Cytogenetic Map 15 q15.3   UniSTS Human Cytogenetic Map 18 q12.3   UniSTS Human Cytogenetic Map 21 q22.3   UniSTS Human Cytogenetic Map 12 q11-q12   UniSTS Human Cytogenetic Map 3 q13.33   UniSTS Human Cytogenetic Map 11 q13.4   UniSTS Human Cytogenetic Map 2 p24   UniSTS Human Cytogenetic Map 8 q24.21   UniSTS Human Cytogenetic Map 12 q22-q23.1   UniSTS Human Cytogenetic Map 3 q26.33   UniSTS Human Cytogenetic Map 5 q32   UniSTS Human Cytogenetic Map 15 q21-q22   UniSTS Human Cytogenetic Map 8 p21.2   UniSTS Human Cytogenetic Map 10 q23   UniSTS Human Cytogenetic Map 1 p22   UniSTS Human Cytogenetic Map 16 p13.13   UniSTS Human Cytogenetic Map 17 p13.3   UniSTS Human Cytogenetic Map 10 q24   UniSTS Human Cytogenetic Map 8 q11.2   UniSTS Human Cytogenetic Map 7 p14-p13   UniSTS Human Cytogenetic Map 11 q22-q23   UniSTS Human Cytogenetic Map 6 q22-q23   UniSTS Human Cytogenetic Map 2 p16.1   UniSTS Human Cytogenetic Map 15 q26.3   UniSTS Human Cytogenetic Map 7 p14.3   UniSTS Human Cytogenetic Map 4 q21.22   UniSTS Human Cytogenetic Map 1 q21.1   UniSTS Human Cytogenetic Map 17 q21.33   UniSTS Human Cytogenetic Map 17 q12   UniSTS Human Cytogenetic Map 16 p12.1   UniSTS Human Cytogenetic Map 14 q32.31   UniSTS Human Cytogenetic Map 11 q24.3   UniSTS Human Cytogenetic Map 11 q13.1-q13.3   UniSTS Human Cytogenetic Map 14 q24.2   UniSTS Human Cytogenetic Map 17 q23.3   UniSTS Human Cytogenetic Map 2 q24   UniSTS Human Cytogenetic Map 1 q23.3   UniSTS Human Cytogenetic Map 10 q25   UniSTS Human Cytogenetic Map 9 q32   UniSTS Human Cytogenetic Map 3 q25.33   UniSTS Human Cytogenetic Map 2 p14   UniSTS Human Cytogenetic Map 15 q21-q23   UniSTS Human Cytogenetic Map 7 q11.23   UniSTS Human Cytogenetic Map 3 p22.1   UniSTS Human Cytogenetic Map 19 q13.11   UniSTS Human Cytogenetic Map 15 q25.2   UniSTS Human Cytogenetic Map 10 q26.3   UniSTS Human Cytogenetic Map 6 p21   UniSTS Human Cytogenetic Map 2 p25.2   UniSTS Human Cytogenetic Map 14 q23.1   UniSTS Human Cytogenetic Map 1 p31.1   UniSTS Human Cytogenetic Map 15 q14-q15   UniSTS Human Cytogenetic Map 5 q31.1   UniSTS Human Cytogenetic Map 1 p34   UniSTS Human Cytogenetic Map X q22.3   UniSTS Human Cytogenetic Map 7 p15.3   UniSTS Human Cytogenetic Map 6 p25.2   UniSTS Human Cytogenetic Map 6 q25.1   UniSTS Human Cytogenetic Map 12 p12.1   UniSTS Human Cytogenetic Map X q25   UniSTS Human Cytogenetic Map 14 q23.2   UniSTS Human Cytogenetic Map 11 q12   UniSTS Human Cytogenetic Map 2 p25.1   UniSTS Human Cytogenetic Map 5 q35   UniSTS Human Cytogenetic Map 16 q21   UniSTS Human Cytogenetic Map 6 p23   UniSTS Human Cytogenetic Map 7 q34   UniSTS Human Cytogenetic Map 4 p16.1   UniSTS Human Cytogenetic Map 3 q25.31   UniSTS Human Cytogenetic Map 2 q33.1   UniSTS Human Cytogenetic Map 17 q21.2   UniSTS Human Cytogenetic Map 19 q13.41   UniSTS Human Cytogenetic Map 11 q12.3   UniSTS Human Cytogenetic Map 11 q13.1   UniSTS Human Cytogenetic Map 10 q24.31   UniSTS Human Cytogenetic Map 20 q13.13   UniSTS Human Cytogenetic Map 1 p22.1   UniSTS Human Cytogenetic Map 10 q22.2   UniSTS Human Cytogenetic Map 6 q13   UniSTS Human Cytogenetic Map 10 q21.3   UniSTS Human Cytogenetic Map 17 p12   UniSTS Human Cytogenetic Map 11 q23.3   UniSTS Human Cytogenetic Map 4 q31.1   UniSTS Human Cytogenetic Map 19 q13.43   UniSTS Human Cytogenetic Map 18 q21.3   UniSTS Human Cytogenetic Map 11 q21   UniSTS Human Cytogenetic Map 5 q13   UniSTS Human Cytogenetic Map 11 q23.2   UniSTS Human Cytogenetic Map 8 q12   UniSTS Human Cytogenetic Map 4 q28-q32   UniSTS Human Cytogenetic Map 19 q13.33   UniSTS Human Cytogenetic Map 15 q21.2   UniSTS Human Cytogenetic Map 16 q24.1   UniSTS Human Cytogenetic Map 9 q34   UniSTS Human Cytogenetic Map 5 q12.3   UniSTS Human Cytogenetic Map 12 q24.11   UniSTS Human Cytogenetic Map 9 q21.12   UniSTS Human Cytogenetic Map 9 q33.3   UniSTS Human Cytogenetic Map 11 q22.3   UniSTS Human Cytogenetic Map 20 p11.22-p11.1   UniSTS Human Cytogenetic Map 10 q24.32   UniSTS Human Cytogenetic Map 20 p13   UniSTS Human Cytogenetic Map 16 q23.1   UniSTS Human Cytogenetic Map 13 q14.2   UniSTS Human Cytogenetic Map 2 q24.3   UniSTS Human Cytogenetic Map 8 p12   UniSTS Human Cytogenetic Map 7 p13   UniSTS Human Cytogenetic Map 9 q31-q33   UniSTS Human Cytogenetic Map 6 p24.1   UniSTS Human Cytogenetic Map 10 p11.23   UniSTS Human Cytogenetic Map 6 q15   UniSTS Human Cytogenetic Map 5 q35.2   UniSTS Human Cytogenetic Map 14 q32   UniSTS Human Cytogenetic Map 3 q26.1-q26.2   UniSTS Human Cytogenetic Map 5 q11.2-q13.2   UniSTS Human Cytogenetic Map 1 p36.11   UniSTS Human Cytogenetic Map 1 q25.2   UniSTS Human Cytogenetic Map X p11.4   UniSTS Human Cytogenetic Map X q13.3   UniSTS Human Cytogenetic Map 8 q22.2   UniSTS Human Cytogenetic Map 7 q11.21   UniSTS Human Cytogenetic Map 5 q35.1   UniSTS Human Cytogenetic Map 5 q33.1   UniSTS Human Cytogenetic Map 4 q21.21   UniSTS Human Cytogenetic Map 2 q21.1   UniSTS Human Cytogenetic Map 22 q11.21   UniSTS Human Cytogenetic Map 18 p11.21   UniSTS Human Cytogenetic Map X q13.1   UniSTS Human Cytogenetic Map X q21.1   UniSTS Human Cytogenetic Map 10 p11.21   UniSTS Human Cytogenetic Map 12 q14.3   UniSTS Human Cytogenetic Map 5 q34   UniSTS Human Cytogenetic Map 2 q36.1   UniSTS Human Cytogenetic Map 12 p11.21   UniSTS Human Cytogenetic Map 5 q33.3   UniSTS Human Cytogenetic Map 16 q23.2   UniSTS Human Cytogenetic Map 9 q31.3   UniSTS Human Cytogenetic Map 15 q24   UniSTS Human Cytogenetic Map 11 q13.2   UniSTS Human Cytogenetic Map 12 q21   UniSTS Human Cytogenetic Map 8 p11.2   UniSTS Human Cytogenetic Map 7 q22-q31   UniSTS Human Cytogenetic Map 22 q12   UniSTS Human Cytogenetic Map 4 q22   UniSTS Human Cytogenetic Map 17 q21.32   UniSTS Human Cytogenetic Map 12 q14   UniSTS Human Cytogenetic Map 11 q23.1-q23.2   UniSTS Human Cytogenetic Map 13 q14   UniSTS Human Cytogenetic Map 13 q32.2   UniSTS Human Cytogenetic Map 17 q   UniSTS Human Cytogenetic Map 2 q33   UniSTS Human Cytogenetic Map 7 q   UniSTS Human Cytogenetic Map 16 p12.2   UniSTS Human Cytogenetic Map 10 q11.23   UniSTS Human Cytogenetic Map 20 q13.12   UniSTS Human Cytogenetic Map 22 q13.33   UniSTS Human Cytogenetic Map 13 q22.1   UniSTS Human Cytogenetic Map 3 p25.2   UniSTS Human Cytogenetic Map 5 q21.3   UniSTS Human Cytogenetic Map 9 q22.2   UniSTS Human Cytogenetic Map 3 p22.2   UniSTS Human Cytogenetic Map 6 p24.2   UniSTS G38133   Map Chr Position Strand Source Human Genome Assembly HuRef 14 53,770,337 - 53,771,485   UniSTS Human Genome Assembly GRCh37 14 73,604,656 - 73,605,807   UniSTS Human Celera Assembly 14 53,667,942 - 53,669,089   UniSTS Human Cytogenetic Map 14 q24.3   UniSTS QTLs in Region (Human Genome Assembly GRCh37) 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 1357326 AASTH37_H Allergic/atopic asthma related QTL 37 (human) 2.88 Atopy reversible airflow obstruction 14 65658544 91658544 Human 1576330 MYI8_H Myocardial infarction susceptibility QTL 8 (human) 3.64 Myocardial infarction susceptibility early-onset 14 48396969 74396969 Human 1576340 MYI16_H Myocardial infarction susceptibility QTL 16 (human) 4.24 Myocardial infarction susceptibility early-onset 14 48396969 74396969 Human 1578605 LDLPS9_H Low density lipoprotein particle size QTL 9 (human) 2.79 .00006 LDL particle size 14 63922438 89922438 Human 1578606 LDLPS8_H Low density lipoprotein particle size QTL 8 (human) 2.65 .00009 LDL particle size 14 63922438 89922438 Human 2289323 BW386_H Body weight QTL 386 (human) 2.38 .00047 Body fat amount abdominal 14 57220345 83220345 Human 1643438 SLIPL15_H Serum lipid level QTL 15 (human) 3.2 .03 Lipid level 14 63922438 89922438 Human 2293360 PRSTS221_H Prostate tumor susceptibility QTL 221 (human) 1.68 Prostate tumor susceptibility 14 57220345 83220345 Human 2293380 PRSTS219_H Prostate tumor susceptibility QTL 219 (human) 1.74 Prostate tumor susceptibility 14 57220345 83220345 Human 2293437 PRSTS220_H Prostate tumor susceptibility QTL 220 (human) 1.03 Prostate tumor susceptibility 14 57220345 83220345 Human 2301169 PRSTS382_H Prostate tumor susceptibility QTL 382 (human) 1.2 Prostate tumor susceptibility 14 48396969 74396969 Human 2316707 GLUCO257_H Glucose level QTL 257 (human) 2.74 .00019 Glucose level 14 50532985 76532985 Human Sequence Nucleotide Sequences Nucleotide RefSeqs NG_007386 (Get FASTA) Search GEO for Microarray Profiles   NM_000021 (Get FASTA) Search GEO for Microarray Profiles   NM_007318 (Get FASTA) Search GEO for Microarray Profiles GenBank Nucleotide AB159776 (Get FASTA) Search GEO for Microarray Profiles   ABBA01030764 (Get FASTA) Search GEO for Microarray Profiles   ABBA01030765 (Get FASTA) Search GEO for Microarray Profiles   ABBA01030766 (Get FASTA) Search GEO for Microarray Profiles   ABBA01030767 (Get FASTA) Search GEO for Microarray Profiles   AC004846 (Get FASTA) Search GEO for Microarray Profiles   AC004858 (Get FASTA) Search GEO for Microarray Profiles   AF109907 (Get FASTA) Search GEO for Microarray Profiles   AF416717 (Get FASTA) Search GEO for Microarray Profiles   AJ008005 (Get FASTA) Search GEO for Microarray Profiles   AK094186 (Get FASTA) Search GEO for Microarray Profiles   AK094256 (Get FASTA) Search GEO for Microarray Profiles   AK122722 (Get FASTA) Search GEO for Microarray Profiles   AK223173 (Get FASTA) Search GEO for Microarray Profiles   AK303876 (Get FASTA) Search GEO for Microarray Profiles   AK312531 (Get FASTA) Search GEO for Microarray Profiles   AMYH01005841 (Get FASTA) Search GEO for Microarray Profiles   AMYH01005842 (Get FASTA) Search GEO for Microarray Profiles   AMYH01005843 (Get FASTA) Search GEO for Microarray Profiles   AW069286 (Get FASTA) Search GEO for Microarray Profiles   BC002708 (Get FASTA) Search GEO for Microarray Profiles   BC011729 (Get FASTA) Search GEO for Microarray Profiles   CH471061 (Get FASTA) Search GEO for Microarray Profiles   D84149 (Get FASTA) Search GEO for Microarray Profiles   DA670846 (Get FASTA) Search GEO for Microarray Profiles   DB075605 (Get FASTA) Search GEO for Microarray Profiles   DB203403 (Get FASTA) Search GEO for Microarray Profiles   L42110 (Get FASTA) Search GEO for Microarray Profiles   L76517 (Get FASTA) Search GEO for Microarray Profiles   L76528 (Get FASTA) Search GEO for Microarray Profiles   U40379 (Get FASTA) Search GEO for Microarray Profiles   U40380 (Get FASTA) Search GEO for Microarray Profiles Reference Sequences RefSeq Acc Id: NM_000021 RefSeq Status: REVIEWED Type: CODING Protein Acc Id: NP_000012 Peptide Label: isoform I-467 Position: 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 + ENTREZGENE Human Genome Assembly GRCh37 14 73,603,143 - 73,690,399 + ENTREZGENE Human Genome Assembly Build 36 14 72,672,932 - 72,756,862 + NCBI Archive RefSeq Acc Id: NM_007318 RefSeq Status: REVIEWED Type: CODING Protein Acc Id: NP_015557 Peptide Label: isoform I-463 Position: 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 + ENTREZGENE Human Genome Assembly GRCh37 14 73,603,143 - 73,690,399 + ENTREZGENE Protein Sequences Protein RefSeqs NP_000012 (Get FASTA)   NP_015557 (Get FASTA) GenBank Protein AAB05894 (Get FASTA)   AAB05895 (Get FASTA)   AAB46370 (Get FASTA)   AAB46371 (Get FASTA)   AAB46416 (Get FASTA)   AAC97960 (Get FASTA)   AAF19253 (Get FASTA)   AAF19254 (Get FASTA)   AAH11729 (Get FASTA)   AAL16811 (Get FASTA)   ADQ31747 (Get FASTA)   BAA20883 (Get FASTA)   BAD30017 (Get FASTA)   BAD96893 (Get FASTA)   BAG35430 (Get FASTA)   BAH14071 (Get FASTA)   CAA07825 (Get FASTA)   EAW81091 (Get FASTA)   EAW81092 (Get FASTA)   EAW81093 (Get FASTA)   EAW81094 (Get FASTA)   EAW81095 (Get FASTA)   EAW81096 (Get FASTA)   EAW81097 (Get FASTA)   P49768 (Get FASTA) Promoters RGD ID: 6866590 Promoter ID: EPDNEW_H6460 Type: multiple initiation site Name: UGT2B7_2 Description: UDP glucuronosyltransferase 2 family, polypeptide B7 SO ACC ID: SO:0000170 Source: EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) Position: Map Chr Position Strand Source Human Genome Assembly Build 36 4 69,962,190 - 69,962,250   EPDNEW RGD ID: 6791810 Promoter ID: HG_KWN:19724 Type: CpG-Island SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4 Transcripts: ENST00000261970,   ENST00000344094,   ENST00000394157,   ENST00000394164,   NM_000021,   NM_007318 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 14 72,672,871 - 72,673,552 + MPROMDB Additional Information External Database Links Database Acc Id Source(s) COSMIC PSEN1 COSMIC Ensembl Genes ENSG00000080815 ENTREZGENE Ensembl Protein ENSP00000326366 ENTREZGENE Ensembl Transcript ENST00000324501 ENTREZGENE Entrez Gene 5663 ENTREZGENE Germonline ENSG00000080815 HGNC ID 9508 ENTREZGENE HomoloGene Group ID 7186 ENTREZGENE HPRD ID 00087 ENTREZGENE InterPro Pept_A22A_PS1 UniProtKB/Swiss-Prot   Peptidase_A22 UniProtKB/Swiss-Prot   Peptidase_A22A UniProtKB/Swiss-Prot IPI IPI00028077 UniProtKB/Swiss-Prot   IPI00068752 UniProtKB/Swiss-Prot   IPI00219934 UniProtKB/Swiss-Prot   IPI00289615 UniProtKB/Swiss-Prot   IPI00337671 UniProtKB/Swiss-Prot   IPI00514137 UniProtKB/Swiss-Prot   IPI00879612 UniProtKB/TrEMBL   IPI01018728 UniProtKB/Swiss-Prot KEGG Report hsa:5663 ENTREZGENE, UniProtKB/Swiss-Prot OMIM 104311 OMIM   172700 OMIM   600274 OMIM   607822 OMIM   613694 OMIM   613737 OMIM PANTHER Pept_A22A_PS1 UniProtKB/Swiss-Prot   Peptidase_A22A UniProtKB/Swiss-Prot Pfam Presenilin UniProtKB/Swiss-Prot PharmGKB PA33855 PharmGKB PRINTS PRESENILIN UniProtKB/Swiss-Prot   PRESENILIN1 UniProtKB/Swiss-Prot SMART PSN UniProtKB/Swiss-Prot UniGene Hs.3260 ENTREZGENE UniProt E7ES96_HUMAN UniProtKB/TrEMBL   G3V2B1_HUMAN UniProtKB/TrEMBL   G3V2G7_HUMAN UniProtKB/TrEMBL   G3V3P0_HUMAN UniProtKB/TrEMBL   G3V3Z0_HUMAN UniProtKB/TrEMBL   G3V449_HUMAN UniProtKB/TrEMBL   G3V490_HUMAN UniProtKB/TrEMBL   G3V499_HUMAN UniProtKB/TrEMBL   G3V4M0_HUMAN UniProtKB/TrEMBL   G3V4P4_HUMAN UniProtKB/TrEMBL   G3V519_HUMAN UniProtKB/TrEMBL   G3V5B1_HUMAN UniProtKB/TrEMBL   H0YM52_HUMAN UniProtKB/TrEMBL   H0YNU4_HUMAN UniProtKB/TrEMBL   PSN1_HUMAN UniProtKB/Swiss-Prot Nomenclature History Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status 2011-08-16 PSEN1  presenilin 1  PSEN1  presenilin 1  Symbol and/or name change 39860 APPROVED

More on PSEN1 Entrez Gene Ensembl Gene Genome Browser: (hg18) (hg19) HGNC Report NCBI Map Viewer Vista Vista + UCSC RGD Object Information RGD ID: 731724 Created: 2004-01-12 Species: Homo sapiens Last Modified: 2013-04-30 Status: ACTIVE