KEGG   Homo sapiens (human): 5663
Entry
5663              CDS       T01001                                 

Gene name
PSEN1, ACNINV3, AD3, FAD, PS-1, PS1, S182
Definition
(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
hsa05165  Human papillomavirus infection
Network
nt06116  NOTCH signaling (viruses)
nt06166  Human papillomavirus (HPV)
nt06410  Calcium signaling
nt06412  Unfolded protein response (UPR) signaling
nt06419  Microtubule-based transport
nt06460  Alzheimer disease
  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
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
Semagacestat: D09377
Tarenflurbil: D09010
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
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    5663 (PSEN1)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    5663 (PSEN1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    5663 (PSEN1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.23  Aspartic endopeptidases
    3.4.23.-  
     5663 (PSEN1)
Peptidases and inhibitors [BR:hsa01002]
 Aspartic peptidases
  Family A22: presenilin family
   5663 (PSEN1)
SSDB
Motif
Pfam: Presenilin
Other DBs
NCBI-GeneID: 5663
NCBI-ProteinID: NP_000012
OMIM: 104311
HGNC: 9508
Ensembl: ENSG00000080815
Vega: OTTHUMG00000141279
Pharos: P49768(Tchem)
UniProt: P49768 A0A024R6A3
LinkDB
Structure
PDB: 

Position
14q24.2
AA seq 467 aa
MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSR
QVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTE
DTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHAWLIISSLLLLFFFSFI
YLGEVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY
LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAE
GDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAA
VQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDWNTTIACFVAILIGLCL
TLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI
NT seq 1404 nt   +upstreamnt  +downstreamnt
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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