Homo sapiens (human): 5663
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Entry
5663 CDS
T01001
Symbol
PSEN1, ACNINV3, AD3, CMD1U, FAD, PS-1, PS1, PSNL1, S182
Name
(RefSeq) presenilin 1
KO
K04505
presenilin 1 [EC:3.4.23.-]
Organism
hsa
Homo sapiens (human)
Pathway
hsa04310
Wnt signaling pathway
hsa04330
Notch signaling pathway
hsa04722
Neurotrophin signaling pathway
hsa05010
Alzheimer disease
hsa05022
Pathways of neurodegeneration - multiple diseases
hsa05165
Human papillomavirus infection
Network
nt06166
Human papillomavirus (HPV)
nt06460
Alzheimer disease
nt06466
Pathways of neurodegeneration
nt06511
NOTCH signaling
nt06534
Unfolded protein response
Element
N00382
HPV E6 to Notch signaling pathway
N01007
Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01008
Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01010
Mutation-caused aberrant PSEN1 to PERK-ATF4 signaling pathway
N01012
Mutation-caused aberrant PSEN1 to IRE1a-XBP1 signaling pathway
N01016
Mutation-caused aberrant PSEN1 to ATF6-mediated transcription
N01017
Mutation-caused aberrant PSEN1 to anterograde axonal transport
N01478
Notch proteolytic activation
Disease
H00056
Alzheimer disease
H00078
Frontotemporal lobar degeneration
H00294
Dilated cardiomyopathy
H00681
Acne inversa
Drug target
Avagacestat:
D09869
Begacestat:
D08869
Crenigacestat:
D11151
Nirogacestat (
DG03016
):
D10960
D11453
<US>
Osugacestat:
D12235
Semagacestat:
D09377
Tarenflurbil:
D09010
Varegacestat:
D13031
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09130 Environmental Information Processing
09132 Signal transduction
04310 Wnt signaling pathway
5663 (PSEN1)
04330 Notch signaling pathway
5663 (PSEN1)
09150 Organismal Systems
09156 Nervous system
04722 Neurotrophin signaling pathway
5663 (PSEN1)
09160 Human Diseases
09172 Infectious disease: viral
05165 Human papillomavirus infection
5663 (PSEN1)
09164 Neurodegenerative disease
05010 Alzheimer disease
5663 (PSEN1)
05022 Pathways of neurodegeneration - multiple diseases
5663 (PSEN1)
09180 Brite Hierarchies
09181 Protein families: metabolism
01002 Peptidases and inhibitors [BR:
hsa01002
]
5663 (PSEN1)
Peptidases and inhibitors [BR:
hsa01002
]
Aspartic peptidases
Family A22: presenilin family
5663 (PSEN1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Presenilin
Motif
Other DBs
NCBI-GeneID:
5663
NCBI-ProteinID:
NP_000012
OMIM:
104311
HGNC:
9508
Ensembl:
ENSG00000080815
UniProt:
P49768
A0A024R6A3
Structure
PDB
PDBj
LinkDB
All DBs
Position
14:73136417..73223691
Genome browser
AA seq
467 aa
AA seq
DB search
MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSR
QVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTE
DTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHAWLIISSLLLLFFFSFI
YLGEVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY
LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAE
GDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAA
VQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDWNTTIACFVAILIGLCL
TLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI
NT seq
1404 nt
NT seq
+upstream
nt +downstream
nt
atgacagagttacctgcaccgttgtcctacttccagaatgcacagatgtctgaggacaac
cacctgagcaatactgtacgtagccagaatgacaatagagaacggcaggagcacaacgac
agacggagccttggccaccctgagccattatctaatggacgaccccagggtaactcccgg
caggtggtggagcaagatgaggaagaagatgaggagctgacattgaaatatggcgccaag
catgtgatcatgctctttgtccctgtgactctctgcatggtggtggtcgtggctaccatt
aagtcagtcagcttttatacccggaaggatgggcagctaatctataccccattcacagaa
gataccgagactgtgggccagagagccctgcactcaattctgaatgctgccatcatgatc
agtgtcattgttgtcatgactatcctcctggtggttctgtataaatacaggtgctataag
gtcatccatgcctggcttattatatcatctctattgttgctgttctttttttcattcatt
tacttgggggaagtgtttaaaacctataacgttgctgtggactacattactgttgcactc
ctgatctggaattttggtgtggtgggaatgatttccattcactggaaaggtccacttcga
ctccagcaggcatatctcattatgattagtgccctcatggccctggtgtttatcaagtac
ctccctgaatggactgcgtggctcatcttggctgtgatttcagtatatgatttagtggct
gttttgtgtccgaaaggtccacttcgtatgctggttgaaacagctcaggagagaaatgaa
acgctttttccagctctcatttactcctcaacaatggtgtggttggtgaatatggcagaa
ggagacccggaagctcaaaggagagtatccaaaaattccaagtataatgcagaaagcaca
gaaagggagtcacaagacactgttgcagagaatgatgatggcgggttcagtgaggaatgg
gaagcccagagggacagtcatctagggcctcatcgctctacacctgagtcacgagctgct
gtccaggaactttccagcagtatcctcgctggtgaagacccagaggaaaggggagtaaaa
cttggattgggagatttcattttctacagtgttctggttggtaaagcctcagcaacagcc
agtggagactggaacacaaccatagcctgtttcgtagccatattaattggtttgtgcctt
acattattactccttgccattttcaagaaagcattgccagctcttccaatctccatcacc
tttgggcttgttttctactttgccacagattatcttgtacagccttttatggaccaatta
gcattccatcaattttatatctag
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