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Gene

PSEN1

presenilin 1

Summary

Cytogenetic location
14q24.2
Coordinates
Chromosome 14: 73,136,507–73,223,691 (GRCh38)
Exons
12 exons across 87.2 kb
Protein
467 amino acids
Inheritance
Autosomal dominant
Also known as
FAD, S182, PS1, PS-1, PSNL1
Previous symbols
AD3
MANE Select transcript
ENST00000324501.10NM_000021.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Alzheimer disease

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Enhanced screening, cognitive engagement, cardiovascular health optimization, anti-amyloid therapies (lecanemab), prevention trial eligibility

  • Frontotemporal Dementia

    • Autosomal dominant

      Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PSEN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where PSEN1 sits. PSEN1 and 13 genes near it on chromosome 14, from 72,680,099 to 73,680,098.Chromosome 1414q24.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3372.8 Mb73 Mb73.2 Mb73.4 Mb73.6 MbDPF3: 72,609,034–72,894,117, reverse strandDPF3DCAF4: 72,926,358–72,962,098, forward strandDCAF4ZFYVE1: 72,969,445–73,027,140, reverse strandZFYVE1RBM25: 73,058,307–73,123,899, forward strandRBM25PSEN1: 73,136,507–73,223,691, forward strandPSEN1PAPLN: 73,236,338–73,345,508, forward strandPAPLNNUMB: 73,274,146–73,466,167, reverse strandNUMBHEATR4: 73,478,484–73,558,947, reverse strandHEATR4RIOX1: 73,490,933–73,520,134, forward strandRIOX1ACOT1: 73,537,122–73,543,797, forward strandACOT1ACOT2: 73,567,620–73,588,885, forward strandACOT2ACOT4: 73,591,660–73,595,766, forward strandACOT4ACOT6: 73,610,945–73,619,888, forward strandACOT6DNAL1: 73,644,875–73,703,732, forward strandDNAL1Diagram of PSEN1: 12 exons on the forward strand of chromosome 14Exon 4: 12 known disease-causing sitesExon 5: 19 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 7: 20 known disease-causing sitesExon 8: 19 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 10 known disease-causing sitesExon 12: 8 known disease-causing sitesExon 1: 73,136,507–73,136,583, 77 basesExon 2: 73,147,795–73,147,876, 82 basesExon 3: 73,147,967–73,148,106, 140 basesExon 4: 73,170,797–73,171,047, 251 basesExon 5: 73,173,566–73,173,707, 142 basesExon 6: 73,186,853–73,186,920, 68 basesExon 7: 73,192,644–73,192,864, 221 basesExon 8: 73,198,031–73,198,129, 99 basesExon 9: 73,206,386–73,206,472, 87 basesExon 10: 73,211,769–73,211,942, 174 basesExon 11: 73,217,126–73,217,244, 119 basesExon 12: 73,219,134–73,223,691, 4,558 bases1246810125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6 kb of the gene's 87.2 kb; 1,404 of those bases code for the protein.

How a genome test reads PSEN1

100

positions in PSEN1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 87.2 kb of PSEN1, introns included, not only the 6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PSEN1 gene: presenilin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/psen1

Vancouver

Dante Labs. PSEN1 gene: presenilin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/psen1

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