KEGG T01001: 5663

Homo sapiens (human): 5663

Entry

5663 CDS T01001

Gene name

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

Definition

presenilin 1 (EC:3.4.23.-)

Orthology

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

Disease

H00056	Alzheimer's disease (AD)
H00078	Frontotemporal lobar degeneration (FTLD)
H00294	Dilated cardiomyopathy (DCM)
H00681	Acne inversa

Drug target

Other:

D08869 D09010 D09377 D09869

Class

Environmental Information Processing; Signal transduction; Wnt signaling pathway [PATH:hsa04310]
Environmental Information Processing; Signal transduction; Notch signaling pathway [PATH:hsa04330]
Organismal Systems; Nervous system; Neurotrophin signaling pathway [PATH:hsa04722]
Human Diseases; Neurodegenerative diseases; Alzheimer's disease [PATH:hsa05010]

SSDB

Motif

Pfam:

Presenilin

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2KR6

Position

14q24.3

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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (10)   
   KEGG DISEASE (4)   
   OMIM (6)   
Drug (4)   
   KEGG DRUG (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (12)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (2)   
DNA sequence (41)   
   RefSeq(nuc) (3)   
   GenBank (19)   
   EMBL (19)   
3D Structure (1)   
   PDB (1)   
Protein domain (1)   
   Pfam (1)   
All databases (86)   

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