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    PSEN1 presenilin 1 [ Homo sapiens (human) ]

    Gene ID: 5663, updated on 27-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 100
    Process Evidence Code Pubs
    involved_in Cajal-Retzius cell differentiation  
    involved_in DNA damage response PubMed 
    involved_in L-glutamate import across plasma membrane  
    involved_in Notch receptor processing PubMed 
    involved_in Notch receptor processing PubMed 
    involved_in Notch signaling pathway  
    involved_in T cell activation involved in immune response  
    involved_in T cell receptor signaling pathway  
    involved_in amyloid precursor protein catabolic process PubMed 
    involved_in amyloid precursor protein catabolic process PubMed 
    involved_in amyloid precursor protein catabolic process PubMed 
    involved_in amyloid precursor protein catabolic process PubMed 
    involved_in amyloid precursor protein metabolic process PubMed 
    involved_in amyloid-beta formation  
    involved_in amyloid-beta formation PubMed 
    involved_in amyloid-beta formation PubMed 
    involved_in amyloid-beta formation PubMed 
    involved_in apoptotic signaling pathway  
    involved_in astrocyte activation PubMed 
    involved_in astrocyte activation involved in immune response PubMed 
    involved_in autophagosome assembly  
    involved_in blood vessel development  
    involved_in brain morphogenesis  
    involved_in calcium ion homeostasis  
    involved_in calcium ion transmembrane transport  
    involved_in cell fate specification  
    acts_upstream_of_or_within cell-cell adhesion PubMed 
    involved_in cellular response to amyloid-beta PubMed 
    involved_in cerebellum development  
    involved_in cerebral cortex cell migration  
    involved_in choline transport  
    involved_in dorsal/ventral neural tube patterning  
    involved_in embryonic limb morphogenesis  
    acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis PubMed 
    involved_in endoplasmic reticulum calcium ion homeostasis PubMed 
    involved_in endoplasmic reticulum calcium ion homeostasis PubMed 
    involved_in epithelial cell proliferation  
    involved_in heart looping  
    involved_in hematopoietic progenitor cell differentiation  
    involved_in intracellular signal transduction  
    involved_in learning or memory PubMed 
    involved_in locomotion  
    involved_in membrane protein ectodomain proteolysis  
    involved_in membrane protein ectodomain proteolysis PubMed 
    involved_in memory PubMed 
    involved_in mitochondrial transport  
    involved_in myeloid dendritic cell differentiation  
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of apoptotic signaling pathway  
    involved_in negative regulation of axonogenesis  
    involved_in negative regulation of core promoter binding PubMed 
    involved_in negative regulation of gene expression PubMed 
    involved_in negative regulation of neuron apoptotic process  
    involved_in negative regulation of transcription by RNA polymerase II PubMed 
    involved_in negative regulation of ubiquitin-dependent protein catabolic process  
    involved_in neural retina development  
    involved_in neuron apoptotic process  
    involved_in neuron cellular homeostasis  
    involved_in neuron development  
    involved_in neuron migration  
    involved_in neuron projection maintenance PubMed 
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of L-glutamate import across plasma membrane  
    involved_in positive regulation of amyloid fibril formation PubMed 
    involved_in positive regulation of apoptotic process  
    involved_in positive regulation of coagulation  
    involved_in positive regulation of dendritic spine development PubMed 
    involved_in positive regulation of gene expression PubMed 
    involved_in positive regulation of glycolytic process PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process  
    involved_in positive regulation of protein import into nucleus PubMed 
    involved_in positive regulation of receptor recycling  
    involved_in positive regulation of tumor necrosis factor production PubMed 
    involved_in post-embryonic development  
    involved_in protein catabolic process at postsynapse  
    involved_in protein glycosylation  
    involved_in protein processing  
    involved_in protein processing PubMed 
    involved_in protein processing PubMed 
    involved_in protein processing PubMed 
    involved_in protein transport  
    involved_in regulation of canonical Wnt signaling pathway  
    involved_in regulation of gene expression PubMed 
    involved_in regulation of neuron projection development PubMed 
    involved_in regulation of phosphorylation PubMed 
    involved_in regulation of postsynapse organization  
    involved_in regulation of resting membrane potential  
    involved_in regulation of synaptic plasticity  
    involved_in regulation of synaptic transmission, glutamatergic  
    involved_in regulation of synaptic vesicle cycle  
    involved_in response to oxidative stress  
    involved_in sequestering of calcium ion  
    involved_in skeletal system morphogenesis  
    involved_in skin morphogenesis  
    involved_in smooth endoplasmic reticulum calcium ion homeostasis  
    involved_in somitogenesis  
    involved_in synapse organization PubMed 
    involved_in synaptic vesicle targeting  
    involved_in thymus development  
    Items 1 - 25 of 100
    Items 1 - 20 of 42
    Component Evidence Code Pubs
    located_in Golgi apparatus PubMed 
    located_in Golgi membrane  
    located_in aggresome PubMed 
    located_in azurophil granule membrane  
    located_in cell cortex  
    located_in cell junction  
    located_in cell surface  
    located_in centrosome PubMed 
    located_in ciliary rootlet  
    is_active_in dendrite PubMed 
    located_in dendritic shaft  
    located_in early endosome membrane  
    located_in endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum membrane  
    part_of gamma-secretase complex  
    part_of gamma-secretase complex PubMed 
    part_of gamma-secretase complex PubMed 
    located_in glutamatergic synapse  
    located_in growth cone PubMed 
    located_in kinetochore PubMed 
    located_in membrane PubMed 
    located_in membrane PubMed 
    located_in membrane raft PubMed 
    located_in mitochondrial inner membrane  
    located_in mitochondrion PubMed 
    located_in neuromuscular junction  
    located_in neuron projection PubMed 
    located_in neuronal cell body  
    located_in nuclear membrane PubMed 
    located_in nuclear outer membrane PubMed 
    located_in nucleoplasm  
    located_in nucleus PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in postsynapse  
    located_in presynaptic membrane  
    part_of protein-containing complex PubMed 
    located_in rough endoplasmic reticulum PubMed 
    located_in sarcolemma  
    colocalizes_with smooth endoplasmic reticulum PubMed 
    located_in smooth endoplasmic reticulum PubMed 
    located_in synaptic vesicle  
    Items 1 - 20 of 42

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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

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