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    PSEN1 presenilin 1 [ Homo sapiens (human) ]

    Gene ID: 5663, updated on 23-Nov-2021

    Summary

    Official Symbol
    PSEN1provided by HGNC
    Official Full Name
    presenilin 1provided by HGNC
    Primary source
    HGNC:HGNC:9508
    See related
    Ensembl:ENSG00000080815 MIM:104311
    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; 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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PSEN1 in Genome Data Viewer
    Location:
    14q24.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (73136436..73223691)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (73603215..73690399)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RBM25 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 586, pseudogene Neighboring gene required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene Neighboring gene RNA binding motif protein 25 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: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables aspartic endopeptidase activity, intramembrane cleaving IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables aspartic-type endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables beta-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Cajal-Retzius cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in L-glutamate import across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Notch receptor processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in Notch receptor processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Notch receptor processing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell activation involved in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amyloid precursor protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in amyloid precursor protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    involved_in amyloid-beta metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    involved_in autophagosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in 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 DNA damage stimulus IDA
    Inferred from Direct Assay
    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
     
    involved_in cerebral cortex cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in choline transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 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 
    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 
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in learning or memory IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in learning or memory TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in membrane protein ectodomain proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in memory IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in mitochondrial transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in modulation of age-related behavioral decline IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in modulation of age-related behavioral decline TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in myeloid dendritic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 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 
    involved_in negative regulation of epidermal growth factor-activated receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    NOT involved_in negative regulation of low-density lipoprotein receptor activity 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 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 negative regulation of ubiquitin-protein transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural retina development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 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 L-glutamate import across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of MAP kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of amyloid fibril formation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in 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 phosphorylation 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 binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    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 transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport 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 resting membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sequestering of calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smooth endoplasmic reticulum calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synapse organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in synaptic vesicle targeting IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 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 membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in aggresome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ciliary rootlet IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in dendritic shaft IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of gamma-secretase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of gamma-secretase complex IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    is_active_in growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in growth cone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    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 synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    presenilin-1
    NP_000012.1
    NP_015557.2
    XP_005267921.1
    XP_005267923.1
    XP_011535274.1
    XP_011535275.1
    XP_011535276.1

    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
      P49768
      UniProtKB/TrEMBL
      A0A024R6A3
      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/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A0S2Z4D2
      Related
      ENSP00000350342.4, ENST00000357710.8
      Conserved Domains (1) summary
      pfam01080
      Location:72453
      Presenilin

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      73136436..73223691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267866.2XP_005267923.1  presenilin-1 isoform X2

      See identical proteins and their annotated locations for XP_005267923.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A0S2Z4D2
      Conserved Domains (1) summary
      pfam01080
      Location:72453
      Presenilin
    2. XM_005267864.3XP_005267921.1  presenilin-1 isoform X1

      See identical proteins and their annotated locations for XP_005267921.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A024R6A3
      Related
      ENSP00000451429.1, ENST00000557511.5
      Conserved Domains (1) summary
      pfam01080
      Location:76457
      Presenilin
    3. XM_011536972.2XP_011535274.1  presenilin-1 isoform X1

      See identical proteins and their annotated locations for XP_011535274.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A024R6A3
      Conserved Domains (1) summary
      pfam01080
      Location:76457
      Presenilin
    4. XM_011536973.2XP_011535275.1  presenilin-1 isoform X2

      See identical proteins and their annotated locations for XP_011535275.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A0S2Z4D2
      Related
      ENSP00000377719.1, ENST00000394164.5
      Conserved Domains (1) summary
      pfam01080
      Location:72453
      Presenilin
    5. XM_011536974.2XP_011535276.1  presenilin-1 isoform X2

      See identical proteins and their annotated locations for XP_011535276.1

      UniProtKB/Swiss-Prot
      P49768
      UniProtKB/TrEMBL
      A0A0S2Z4D2
      Related
      ENSP00000385948.1, ENST00000406768.1
      Conserved Domains (1) summary
      pfam01080
      Location:72453
      Presenilin

    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.
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