PSEN1

GENE INFORMATION

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Gene name

PSEN1 (HGNC Symbol)

Synonyms

AD3, FAD, PS1, S182

Description

presenilin 1 (HGNC Symbol)

Entrez gene summary

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]

Chromosome

14 (Chromosome progress)

Cytoband

q24.2

Chromosome location (bp)

73603126 - 73690399

Ensembl

ENSG00000080815 (version 73.37)

Entrez gene

5663

UniProt

P49768 (UniProt - Evidence at protein level)

neXtProt

NX_P49768

Antibodypedia

PSEN1 antibodies
 

PROTEIN VIEW

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 « 
 
PSEN1-001
 
PSEN1-002
 
PSEN1-003
 
PSEN1-004
 
PSEN1-005
 
PSEN1-006
 
PSEN1-007
 
PSEN1-008
 
PSEN1-009
 
PSEN1-011
 
PSEN1-012
 
PSEN1-013
 
PSEN1-014
 
PSEN1-015
 
PSEN1-016
 
PSEN1-020
 
PSEN1-021
 
PSEN1-024
 
PSEN1-026
 
PSEN1-027
 
PSEN1-028
 
PSEN1-029
 
PSEN1-201
 
PSEN1-202
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PSEN1-001 ENSP00000326366
ENST00000324501
P49768
Show all »
Show » Show » 467 52.7 No 8
PSEN1-002 ENSP00000350342
ENST00000357710
P49768
Show all »
Show » Show » 463 52.2 No 8
PSEN1-003 ENSP00000377719
ENST00000394164
P49768
Show all »
Show » Show » 463 52.2 No 8
PSEN1-004 ENSP00000377712
ENST00000394157
P49768
Show all »
Show » Show » 184 21.1 No 3
PSEN1-005 ENSP00000385948
ENST00000406768
E7ES96
Show all »
Show » Show » 375 42.1 No 7
PSEN1-006 ENSP00000450845
ENST00000555386
P49768
Show all »
Show » Show » 374 42.3 No 6
PSEN1-007 ENSP00000451588
ENST00000556864
G3V449
Show all »
Show » 63 7.3 No 0
PSEN1-008 ENSP00000451347
ENST00000557037
G3V3P0
Show all »
Show » 62 7.1 No 0
PSEN1-009 ENSP00000452128
ENST00000556533
G3V519
Show all »
Show » Show » 92 10.6 No 0
PSEN1-011 ENSP00000452267
ENST00000556066
G3V5B1
Show all »
Show » 58 6.7 No 0
PSEN1-012 ENSP00000452477
ENST00000553599
G3V519
Show all »
Show » Show » 92 10.6 No 0
PSEN1-013 ENSP00000451498
ENST00000557356
G3V3Z0
Show all »
Show » Show » 135 15.3 No 1
PSEN1-014 ENSP00000450551
ENST00000556951
G3V2B1
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Show » Show » 91 10.5 No 0
PSEN1-015 ENSP00000451880
ENST00000557293
G3V4M0
Show all »
Show » Show » 99 11.3 No 1
PSEN1-016 ENSP00000451674
ENST00000553719
G3V499
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Show » Show » 147 16.6 No 2
PSEN1-020 ENSP00000451915
ENST00000554131
G3V4P4
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Show » Show » 109 12.5 No 1
PSEN1-021 ENSP00000450652
ENST00000555254
G3V2G7
Show all »
Show » Show » 155 17.6 No 2
PSEN1-024 ENSP00000452242
ENST00000553855
P49768
Show all »
Show » Show » 378 42.8 No 6
PSEN1-026 ENSP00000451662
ENST00000556011
G3V490
Show all »
Show » 43 4.9 No 0
PSEN1-027 ENSP00000451429
ENST00000557511
P49768
Show all »
Show » Show » 409 46.3 No 8
PSEN1-028 ENSP00000453466
ENST00000560005
H0YM52
Show all »
Show » Show » 109 12.5 No 1
PSEN1-029 ENSP00000454156
ENST00000559361
H0YNU4
Show all »
57 6.6 No 0
PSEN1-201 ENSP00000261970
ENST00000261970
P49768
Show all »
Show » Show » 409 46.3 No 8
PSEN1-202 ENSP00000339523
ENST00000344094
P49768
Show all »
Show » Show » 378 42.8 No 6