KEGG   Homo sapiens (human): 5663Help
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's disease
hsa05165  Human papillomavirus infection
Module
hsa_M00682  Notch signaling
Network
N00192  HPV E6 to host-cell-protein activation
Disease
H00056  Alzheimer's disease (AD)
H00078  Frontotemporal lobar degeneration (FTLD)
H00294  Dilated cardiomyopathy (DCM)
H00681  Acne inversa
Drug target
Avagacestat: D09869
Begacestat: D08869
Semagacestat: D09377
Tarenflurbil: D09010
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04310 Wnt signaling pathway
    5663 (PSEN1)
   04330 Notch signaling pathway
    5663 (PSEN1)
 Organismal Systems
  Nervous system
   04722 Neurotrophin signaling pathway
    5663 (PSEN1)
 Human Diseases
  Neurodegenerative diseases
   05010 Alzheimer's disease
    5663 (PSEN1)
  Infectious diseases
   05165 Human papillomavirus infection
    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 [BR:hsa01002]
 Aspartic Peptidases
  Family A22: presenilin family
   5663 (PSEN1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Presenilin
Motif
Other DBs
NCBI-GeneID: 5663
NCBI-ProteinID: NP_000012
OMIM: 104311
HGNC: 9508
Ensembl: ENSG00000080815
Vega: OTTHUMG00000141279
Pharos: P49768(Tchem)
UniProt: P49768 A0A024R6A3
Structure
PDB: 

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