Information on PSEN1
Alt. symbols: AD3 | FAD | S182 | PS1
Approved name: presenilin 1
Alt. names: Alzheimer disease 3
Location: 14q24.2: 73136418 - 73223691 (+)
Gene type: protein_coding, 88 transcripts.
Scores: LoFtool: 0.002140 | pLI: 0.99760116 | LOEUF: 0.318
Gene Ontology (GO)
- Molecular function: cadherin binding [GO:0045296]; endopeptidase activity [GO:0004175]; beta-catenin binding [GO:0008013]
- Cell component: growth cone [GO:0030426]; nucleus [GO:0005634]; apical plasma membrane [GO:0016324]; Z disc [GO:0030018]; endoplasmic reticulum [GO:0005783]; ciliary rootlet [GO:0035253]; cell cortex [GO:0005938]; lysosomal membrane [GO:0005765]; dendritic shaft [GO:0043198]; neuronal cell body [GO:0043025]; neuromuscular junction [GO:0031594]; cell surface [GO:0009986]; perinuclear region of cytoplasm [GO:0048471]; membrane raft [GO:0045121]; mitochondrial inner membrane [GO:0005743]
- Biological process: Notch receptor processing [GO:0007220]; amyloid precursor protein catabolic process [GO:0042987]; calcium ion transport [GO:0006816]; amyloid-beta metabolic process [GO:0050435]; negative regulation of apoptotic process [GO:0043066]; smooth endoplasmic reticulum calcium ion homeostasis [GO:0051563]; membrane protein ectodomain proteolysis [GO:0006509]
Normal function
Dysfunction and disease
?Acne inversa, familial, 3 [MIM:613737] | Cardiomyopathy, dilated, 1U [MIM:613694] | Alzheimer disease, type 3, with spastic paraparesis and unusual plaques [MIM:607822] | Alzheimer disease, type 3, with spastic paraparesis and apraxia [MIM:607822] | Alzheimer disease, type 3 [MIM:607822] | Dementia, frontotemporal [MIM:600274] | Pick disease [MIM:172700] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CMD1U |
Cardiomyopathy, dilated 1U | AD |
613694 |
0 (0 fams) | |
| ACNINV3 |
Acne inversa, familial, 3 | AD |
613737 |
0 (0 fams) | |
| AD3 |
Alzheimer disease, type 3 | AD |
607822 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of PSEN1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000324501.10 | 1 | CCDS9812 | Select | protein_coding | 12 | Yes | 6018 | NM_000021 |
| 219 | ENST00000556951.6 | protein_coding | No | 552 | XM_054376417 | ||||
| 229 | ENST00000700265.1 | protein_coding | No | XM_047431602 | |||||
| 231 | ENST00000700267.1 | protein_coding | No | XM_047431601 | |||||
| 232 | ENST00000700268.1 | protein_coding | No | XM_054376413 | |||||
| 249 | ENST00000700313.1 | protein_coding | No | XM_011536974 | |||||
| 258 | ENST00000700322.1 | protein_coding | No | NM_007318 | |||||
| 265 | ENST00000700378.1 | protein_coding | No | XM_011536972 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in PSEN1
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|