full name
presenilin 1

synonyms
AD3, FAD, PS-1, PS1, S182, PSEN1, ENSG00000080815

HGNC
HGNC:9508

Entrez Gene
Gene:5663

ENSEMBL
ENSG00000080815

location
chr: 14
start: 73603143
stop: 73690399
strand: +

OMIM
OMIM:104311: PSEN1 (Autosomal dominant inheritance)
OMIM:613737: ?Acne inversa, familial, 3
OMIM:607822: Alzheimer disease, type 3
OMIM:607822: Alzheimer disease, type 3, with spastic paraparesis and apraxia
OMIM:607822: Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
OMIM:613694: Cardiomyopathy, dilated, 1U
OMIM:600274: Dementia, frontotemporal
OMIM:172700: Pick disease

transcripts
NM_000021.3
NM_007318.2

pathways
Alzheimer's disease [NCBI:83097] [KEGG:hsa05010] [PUBMED:18782350] [PUBMED:18035450] [PUBMED:15177383] [PUBMED:10527810] [PUBMED:15363492] [PUBMED:16677790] [PUBMED:15295589] [PUBMED:17055782] [PUBMED:15864339] [PUBMED:15750290] [PUBMED:18675468] [PUBMED:15232608] [PUBMED:9848086] [PUBMED:11484003] [PUBMED:10830966] [PUBMED:16529745] [PUBMED:17568632]
Degradation of the extracellular matrix [NCBI:1270257] [REACTOME:R-HSA-1474228] [PUBMED:21917992]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Neurotrophin signaling pathway [NCBI:101143] [KEGG:hsa04722] [PUBMED:16699811] [PUBMED:10812966] [PUBMED:12676795] [PUBMED:16939974] [PUBMED:10851172] [PUBMED:15499580] [PUBMED:14704852] [PUBMED:11399424] [PUBMED:10764727] [PUBMED:10985348] [PUBMED:16856873] [PUBMED:11529497]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Notch signaling pathway [NCBI:83062] [KEGG:hsa04330] [NCBI:169345] [Pathway Interaction Database:notch_pathway] [PUBMED:11459941] [PUBMED:12682059] [PUBMED:11825871] [PUBMED:17658278] [PUBMED:15998794] [PUBMED:11101851] [PUBMED:19686683] [PUBMED:18490439] [PUBMED:11150244] [PUBMED:9694793] [PUBMED:10206645] [PUBMED:19704010] [PUBMED:16137758] [PUBMED:15288258] [PUBMED:17392792] [PUBMED:8749394] [PUBMED:15965470] [PUBMED:14566063] [PUBMED:19567869] [PUBMED:11585921] [PUBMED:18676613] [PUBMED:12913000] [PUBMED:10593990] [PUBMED:15274632] [PUBMED:11777909] [PUBMED:12015972] [PUBMED:10028969] [PUBMED:18043734] [PUBMED:17658279] [PUBMED:17575125] [PUBMED:10958687] [PUBMED:15300010] [PUBMED:10882062] [PUBMED:12374742] [PUBMED:11782429] [PUBMED:9653148] [PUBMED:9315665] [PUBMED:8643690] [PUBMED:17114293] [PUBMED:10837024] [PUBMED:15067010] [PUBMED:17296795] [PUBMED:10940313] [PUBMED:18628966] [PUBMED:12826675] [PUBMED:12681948] [PUBMED:16492672] [PUBMED:12551931] [PUBMED:15082708] [PUBMED:12464310] [PUBMED:12794186] [PUBMED:16107360] [PUBMED:19726682] [PUBMED:11486031] [PUBMED:16287852] [PUBMED:12297508] [PUBMED:16061358] [PUBMED:17107962] [PUBMED:9244302] [PUBMED:11425854] [PUBMED:9620803] [PUBMED:15272268] [PUBMED:18417156] [PUBMED:16000382] [PUBMED:11896183] [PUBMED:11604511] [PUBMED:16847353] [PUBMED:11432830] [PUBMED:15652348] [PUBMED:12417415] [PUBMED:14567914] [PUBMED:11006133] [PUBMED:18077452] [PUBMED:16144902] [PUBMED:15288257] [PUBMED:15585829] [PUBMED:12370315] [PUBMED:15288260] [PUBMED:17434929] [PUBMED:12814948] [PUBMED:10882063] [PUBMED:11518718]
Presenilin action in Notch and Wnt signaling [NCBI:137914] [Pathway Interaction Database:ps1pathway] [PUBMED:10391247] [PUBMED:11921277] [PUBMED:11357136] [PUBMED:15620650] [PUBMED:11739397] [PUBMED:15747065] [PUBMED:10359821] [PUBMED:15327768] [PUBMED:12554650] [PUBMED:15292388] [PUBMED:11266469] [PUBMED:12794186] [PUBMED:10882062] [PUBMED:8923452] [PUBMED:12050670] [PUBMED:10201374] [PUBMED:12857724] [PUBMED:9171444]
Syndecan-3-mediated signaling events [NCBI:137952] [Pathway Interaction Database:syndecan_3_pathway] [PUBMED:14504279] [PUBMED:16289473] [PUBMED:12851299] [PUBMED:9133440] [PUBMED:9952400] [PUBMED:12929127] [PUBMED:10460248] [PUBMED:8528141] [PUBMED:9553134] [PUBMED:15198637] [PUBMED:8175719] [PUBMED:16908672] [PUBMED:11461706] [PUBMED:8344959] [PUBMED:16052590] [PUBMED:9660869]
Wnt signaling pathway [NCBI:83061] [KEGG:hsa04310] [PUBMED:12446114] [PUBMED:14745971] [PUBMED:14530294] [PUBMED:15102436] [PUBMED:14635791] [PUBMED:19482104] [PUBMED:23256519] [PUBMED:12967557] [PUBMED:11433294] [PUBMED:18838381]
p75(NTR)-mediated signaling [NCBI:138019] [Pathway Interaction Database:p75ntrpathway] [PUBMED:14673001] [PUBMED:14593116] [PUBMED:10545116] [PUBMED:11729324] [PUBMED:16252010] [PUBMED:11756426] [PUBMED:12414813] [PUBMED:2157470] [PUBMED:11777929] [PUBMED:1547788] [PUBMED:10764727] [PUBMED:8614802] [PUBMED:14960584] [PUBMED:12376548] [PUBMED:11756498] [PUBMED:8079174] [PUBMED:16498402] [PUBMED:15051733] [PUBMED:12682012] [PUBMED:14638693] [PUBMED:14966521] [PUBMED:9915784] [PUBMED:11487608] [PUBMED:10485890] [PUBMED:16630834] [PUBMED:11312266] [PUBMED:10985348] [PUBMED:11244088] [PUBMED:6093111] [PUBMED:10595511] [PUBMED:14985763] [PUBMED:12097334] [PUBMED:15548667] [PUBMED:15470142] [PUBMED:11279271] [PUBMED:8878481] [PUBMED:12422217] [PUBMED:15987945] [PUBMED:15668238] [PUBMED:10433815] [PUBMED:12692556] [PUBMED:2025430] [PUBMED:15930396] [PUBMED:11278287] [PUBMED:12034707]