PSEN1 (presenilin 1)

2007-04-01  

Identity

HGNC
PSEN1
LOCATION
14q24.2
LOCUSID
5663
ALIAS
ACNINV3,AD3,FAD,PS-1,PS1,S182
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5663
MIM: 104311
HGNC: 9508
Ensembl: ENSG00000080815

Variants:

dbSNP: 5663
ClinVar: 5663
TCGA: ENSG00000080815
COSMIC: PSEN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080815ENST00000324501P49768
ENSG00000080815ENST00000324501A0A024R6A3
ENSG00000080815ENST00000357710P49768
ENSG00000080815ENST00000357710A0A0S2Z4D2
ENSG00000080815ENST00000394157P49768
ENSG00000080815ENST00000394164P49768
ENSG00000080815ENST00000394164A0A0S2Z4D2
ENSG00000080815ENST00000406768E7ES96
ENSG00000080815ENST00000553599G3V2B1
ENSG00000080815ENST00000553719G3V499
ENSG00000080815ENST00000553855P49768
ENSG00000080815ENST00000554131G3V4P4
ENSG00000080815ENST00000555254G3V2G7
ENSG00000080815ENST00000555386P49768
ENSG00000080815ENST00000556011G3V490
ENSG00000080815ENST00000556066G3V5B1
ENSG00000080815ENST00000556533G3V519
ENSG00000080815ENST00000556864G3V449
ENSG00000080815ENST00000556951G3V2B1
ENSG00000080815ENST00000557037G3V3P0
ENSG00000080815ENST00000557293G3V4M0
ENSG00000080815ENST00000557356G3V3Z0
ENSG00000080815ENST00000557511P49768
ENSG00000080815ENST00000559361H0YNU4
ENSG00000080815ENST00000560005H0YM52

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Notch signaling pathwayKEGGko04330
Alzheimer's diseaseKEGGko05010
Wnt signaling pathwayKEGGhsa04310
Notch signaling pathwayKEGGhsa04330
Alzheimer's diseaseKEGGhsa05010
Neurotrophin signaling pathwayKEGGko04722
Neurotrophin signaling pathwayKEGGhsa04722
Notch signalingKEGGhsa_M00682
Notch signalingKEGGM00682
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381036302024Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation.0
382154352024Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings.1
382278902024Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.0
383808822024Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.1
388244332024The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.1
388516262024Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca(2+)](i) distribution in human iPSC-derived cardiomyocytes.0
381036302024Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation.0
382154352024Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings.1
382278902024Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.0
383808822024Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.1
388244332024The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.1
388516262024Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca(2+)](i) distribution in human iPSC-derived cardiomyocytes.0
359491062023Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.4
362173042023The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.2
362612932023Epithelial presenilin-1 drives colorectal tumour growth by controlling EGFR-COX2 signalling.1

Citation

Dessen P

PSEN1 (presenilin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47223/css/lib/gene-explorer/humanGenome