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PSEN1 presenilin 1 [ Homo sapiens (human) ]

Gene ID: 5663, updated on 5-Jul-2025
Official Symbol
PSEN1provided by HGNC
Official Full Name
presenilin 1provided by HGNC
Primary source
HGNC:HGNC:9508
See related
Ensembl:ENSG00000080815 MIM:104311; AllianceGenome:HGNC:9508
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AD3; FAD; PS1; PS-1; S182; CMD1U; PSNL1; ACNINV3
Summary
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]
Expression
Ubiquitous expression in colon (RPKM 14.6), small intestine (RPKM 14.0) and 25 other tissues See more
Orthologs
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See PSEN1 in Genome Data Viewer
Location:
14q24.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73136417..73223691)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67341963..67429152)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (73603215..73690399)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:73524555-73525754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73531656-73532156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73532157-73532657 Neighboring gene RBM25 antisense RNA 1 Neighboring gene required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene Neighboring gene RNA binding motif protein 25 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:73591861-73592400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5904 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73635088-73636024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73636025-73636961 Neighboring gene NANOG hESC enhancer GRCh37_chr14:73637234-73637812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:73651850-73652468 Neighboring gene NANOG hESC enhancer GRCh37_chr14:73689643-73690155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:73693769-73694664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8695 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr14:73702487-73703059 and GRCh37_chr14:73703060-73703631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:73704205-73704775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5906 Neighboring gene PAPLN antisense RNA 1 Neighboring gene RNA, U6 small nuclear 419, pseudogene Neighboring gene papilin, proteoglycan like sulfated glycoprotein

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables aspartic endopeptidase activity, intramembrane cleaving IBA
Inferred from Biological aspect of Ancestor
more info
 
enables aspartic endopeptidase activity, intramembrane cleaving IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to aspartic endopeptidase activity, intramembrane cleaving IEA
Inferred from Electronic Annotation
more info
 
enables aspartic endopeptidase activity, intramembrane cleaving IEA
Inferred from Electronic Annotation
more info
 
enables aspartic endopeptidase activity, intramembrane cleaving IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables aspartic-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables aspartic-type endopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cadherin binding IEA
Inferred from Electronic Annotation
more info
 
enables calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables endopeptidase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables growth factor receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within Cajal-Retzius cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within_positive_effect L-glutamate import across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in Notch receptor processing IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within Notch receptor processing IEA
Inferred from Electronic Annotation
more info
 
involved_in Notch receptor processing IEA
Inferred from Electronic Annotation
more info
 
involved_in Notch receptor processing TAS
Traceable Author Statement
more info
PubMed 
involved_in Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within T cell activation involved in immune response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in amyloid precursor protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within amyloid precursor protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in amyloid precursor protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in amyloid precursor protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in amyloid precursor protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in amyloid precursor protein metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in amyloid-beta formation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in amyloid-beta formation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within amyloid-beta formation IEA
Inferred from Electronic Annotation
more info
 
involved_in amyloid-beta formation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in amyloid-beta formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within amyloid-beta metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in astrocyte activation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in astrocyte activation involved in immune response IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within autophagosome assembly IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within autophagy IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within blood vessel development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within brain development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within brain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell fate specification IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to amyloid-beta IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in cerebellum development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cerebral cortex cell migration IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within choline transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in endoplasmic reticulum calcium ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in endoplasmic reticulum calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within forebrain development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within_positive_effect gene expression IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within heart development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within heart looping IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within intracellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within learning or memory IEA
Inferred from Electronic Annotation
more info
 
involved_in learning or memory IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within locomotion IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane protein ectodomain proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane protein ectodomain proteolysis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within memory IEA
Inferred from Electronic Annotation
more info
 
involved_in memory IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within mitochondrial transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within myeloid dendritic cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within myeloid leukocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of axonogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of core promoter binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of negative regulation of epidermal growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in neural retina development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neurogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neuron cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neuron development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neuron migration IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron projection maintenance IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of L-glutamate import across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of amyloid fibril formation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of coagulation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of dendritic spine development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of glycolytic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of receptor recycling IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of tumor necrosis factor production IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in protein catabolic process at postsynapse IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within protein maturation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein processing IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within protein processing IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in protein processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of postsynapse organization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of resting membrane potential IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic vesicle cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within segmentation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within_positive_effect sequestering of calcium ion IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in skin morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within smooth endoplasmic reticulum calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within somitogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse organization IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within synaptic vesicle targeting IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
located_in aggresome IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon IEA
Inferred from Electronic Annotation
more info
 
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
 
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary rootlet IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
is_active_in dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
part_of gamma-secretase complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of gamma-secretase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of gamma-secretase complex IEA
Inferred from Electronic Annotation
more info
 
part_of gamma-secretase complex IGI
Inferred from Genetic Interaction
more info
PubMed 
is_active_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in growth cone IDA
Inferred from Direct Assay
more info
PubMed 
located_in growth cone IEA
Inferred from Electronic Annotation
more info
 
located_in kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
located_in kinetochore IEA
Inferred from Electronic Annotation
more info
 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
located_in neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in rough endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with smooth endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in smooth endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
located_in synaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
presenilin-1
Names
familial Alzheimer Disease
NP_000012.1
NP_015557.2
XP_005267921.1
XP_005267923.1
XP_011535274.1
XP_011535275.1
XP_011535276.1
XP_047287556.1
XP_047287557.1
XP_047287558.1
XP_054232388.1
XP_054232389.1
XP_054232390.1
XP_054232391.1
XP_054232392.1
XP_054232393.1
XP_054232394.1
XP_054232395.1

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007386.2 RefSeqGene

    Range
    5037..92221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_224

mRNA and Protein(s)

  1. NM_000021.4NP_000012.1  presenilin-1 isoform I-467

    See identical proteins and their annotated locations for NP_000012.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (I-467).
    Source sequence(s)
    AK094186, AK312531, AW069286, BC011729, DA670846, DB075605, DB203403
    Consensus CDS
    CCDS9812.1
    UniProtKB/Swiss-Prot
    B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0
    UniProtKB/TrEMBL
    A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
    Related
    ENSP00000326366.5, ENST00000324501.10
    Conserved Domains (1) summary
    pfam01080
    Location:76457
    Presenilin
  2. NM_007318.3NP_015557.2  presenilin-1 isoform I-463

    See identical proteins and their annotated locations for NP_015557.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternative donor splice site at one of the coding exons compared to transcript variant 1. It maintains the same reading frame, and encodes a shorter isoform (I-463) missing a 4 aa peptide compared to isoform I-467.
    Source sequence(s)
    AK094186, AW069286, BC011729, DA670846, DB075605, DB203403
    Consensus CDS
    CCDS9813.1
    UniProtKB/TrEMBL
    A0A0S2Z4D2, Q53FV8
    Related
    ENSP00000350342.4, ENST00000357710.8
    Conserved Domains (1) summary
    pfam01080
    Location:72453
    Presenilin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    73136417..73223691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431602.1XP_047287558.1  presenilin-1 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z4D2, Q53FV8
    Related
    ENSP00000514901.1, ENST00000700265.1
  2. XM_047431601.1XP_047287557.1  presenilin-1 isoform X1

    UniProtKB/Swiss-Prot
    B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0
    UniProtKB/TrEMBL
    A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
    Related
    ENSP00000514903.1, ENST00000700267.1
  3. XM_047431600.1XP_047287556.1  presenilin-1 isoform X1

    UniProtKB/Swiss-Prot
    B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0
    UniProtKB/TrEMBL
    A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
  4. XM_011536974.3XP_011535276.1  presenilin-1 isoform X2

    See identical proteins and their annotated locations for XP_011535276.1

    UniProtKB/TrEMBL
    A0A0S2Z4D2, Q53FV8
    Conserved Domains (1) summary
    pfam01080
    Location:72453
    Presenilin
  5. XM_011536972.3XP_011535274.1  presenilin-1 isoform X1

    See identical proteins and their annotated locations for XP_011535274.1

    UniProtKB/Swiss-Prot
    B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0
    UniProtKB/TrEMBL
    A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
    Related
    ENSP00000514968.1, ENST00000700378.1
    Conserved Domains (1) summary
    pfam01080
    Location:76457
    Presenilin
  6. XM_011536973.3XP_011535275.1  presenilin-1 isoform X2

    See identical proteins and their annotated locations for XP_011535275.1

    UniProtKB/TrEMBL
    A0A0S2Z4D2, Q53FV8
    Related
    ENSP00000377719.1, ENST00000394164.5
    Conserved Domains (1) summary
    pfam01080
    Location:72453
    Presenilin
  7. XM_005267864.4XP_005267921.1  presenilin-1 isoform X1

    See identical proteins and their annotated locations for XP_005267921.1

    UniProtKB/Swiss-Prot
    B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0
    UniProtKB/TrEMBL
    A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
    Related
    ENSP00000514904.1, ENST00000700268.1
    Conserved Domains (1) summary
    pfam01080
    Location:76457
    Presenilin
  8. XM_005267866.3XP_005267923.1  presenilin-1 isoform X2

    See identical proteins and their annotated locations for XP_005267923.1

    UniProtKB/TrEMBL
    A0A0S2Z4D2, Q53FV8
    Related
    ENSP00000450551.2, ENST00000556951.6
    Conserved Domains (1) summary
    pfam01080
    Location:72453
    Presenilin

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    67341963..67429152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376420.1XP_054232395.1  presenilin-1 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z4D2, Q53FV8
  2. XM_054376415.1XP_054232390.1  presenilin-1 isoform X1

    UniProtKB/Swiss-Prot
    B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0
    UniProtKB/TrEMBL
    A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
  3. XM_054376414.1XP_054232389.1  presenilin-1 isoform X1

    UniProtKB/Swiss-Prot
    B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0
    UniProtKB/TrEMBL
    A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
  4. XM_054376418.1XP_054232393.1  presenilin-1 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z4D2, Q53FV8
  5. XM_054376416.1XP_054232391.1  presenilin-1 isoform X1

    UniProtKB/Swiss-Prot
    B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0
    UniProtKB/TrEMBL
    A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
  6. XM_054376419.1XP_054232394.1  presenilin-1 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z4D2, Q53FV8
  7. XM_054376413.1XP_054232388.1  presenilin-1 isoform X1

    UniProtKB/Swiss-Prot
    B2R6D3, O95465, P49768, Q14762, Q15719, Q15720, Q96P33, Q9UIF0
    UniProtKB/TrEMBL
    A0A024R6A3, A0A218KGN3, A0A218KGN4, A0A218KGN7, A0A218KGP0, A0A218KGP1, A0A218KGP3, A0A218KGQ3, A0A218KGQ6
  8. XM_054376417.1XP_054232392.1  presenilin-1 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z4D2, Q53FV8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_007319.1: Suppressed sequence

    Description
    NM_007319.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.