| Entry |
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| Symbol |
PSEN1, ACNINV3, AD3, CMD1U, FAD, PS-1, PS1, PSNL1, S182
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| Name |
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| KO |
| K04505 | presenilin 1 [EC:3.4.23.-] |
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| Organism |
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| Pathway |
| hsa05022 | Pathways of neurodegeneration - multiple diseases |
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| Network |
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| 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 |
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| Disease |
| H00078 | Frontotemporal lobar degeneration |
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| Drug target |
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| 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)
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| SSDB |
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| Motif |
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| Other DBs |
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| Structure |
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| LinkDB |
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| Position |
14:73136417..73223691
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| AA seq |
467 aa
MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSR
QVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTE
DTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHAWLIISSLLLLFFFSFI
YLGEVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY
LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAE
GDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAA
VQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDWNTTIACFVAILIGLCL
TLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI |
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| 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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