Human (GRCh37.p13)
Description

presenilin 1 [Source:HGNC Symbol;Acc:9508]

Gene Synonyms

AD3, FAD, PS-1, PS1, PSNL1, S182

Location

Chromosome 14: 73,603,126-73,690,399 forward strand.

GRCh37:CM000676.1

About this gene

This gene has 27 transcripts (splice variants), 1 paralogue and is associated with 10 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000324501.5PSEN1-0016078467aaENSP00000326366.5
 
Protein coding
CCDS9812E7ES96 G3V2G7 G3V4M0
G3V4P4 P49768
NM_007318.2Ensembl CanonicalGENCODE Basic
ENST00000406768.1PSEN1-0054062375aaENSP00000385948.1
 
Protein coding
E7ES96 -GENCODE Basic
ENST00000394164.1PSEN1-0033046463aaENSP00000377719.1
 
Protein coding
CCDS9813E7ES96 G3V2B1 G3V3P0
G3V3Z0 G3V449 G3V499
G3V519 G3V5B1 H0YM52
P49768
-GENCODE Basic
ENST00000344094.3PSEN1-2022856378aaENSP00000339523.3
 
Protein coding
G3V2G7 G3V4M0 G3V4P4
P49768
-GENCODE Basic
ENST00000357710.4PSEN1-0022776463aaENSP00000350342.4
 
Protein coding
CCDS9813E7ES96 G3V2B1 G3V3P0
G3V3Z0 G3V449 G3V499
G3V519 G3V5B1 H0YM52
P49768
-GENCODE Basic
ENST00000261970.3PSEN1-2012590409aaENSP00000261970.3
 
Protein coding
G3V2G7 G3V4M0 G3V4P4
P49768
-GENCODE Basic
ENST00000394157.3PSEN1-0041249184aaENSP00000377712.3
 
Protein coding
G3V2G7 G3V4M0 G3V4P4
P49768
-GENCODE Basic
ENST00000557511.1PSEN1-0271230409aaENSP00000451429.1
 
Protein coding
G3V2G7 G3V4M0 G3V4P4
P49768
-GENCODE Basic
ENST00000555254.1PSEN1-021754155aaENSP00000450652.1
 
Protein coding
G3V2G7 G3V4M0 G3V4P4
-CDS 3' incomplete
ENST00000553719.1PSEN1-016712147aaENSP00000451674.1
 
Protein coding
G3V2B1 G3V3P0 G3V3Z0
G3V449 G3V499 G3V519
G3V5B1 H0YM52
-CDS 3' incomplete
ENST00000560005.2PSEN1-028699109aaENSP00000453466.1
 
Protein coding
G3V2B1 G3V3P0 G3V449
G3V519 G3V5B1 H0YM52
-CDS 3' incomplete
ENST00000556066.1PSEN1-01161258aaENSP00000452267.1
 
Protein coding
G3V5B1 -CDS 3' incomplete
ENST00000553599.1PSEN1-01259191aaENSP00000452477.1
 
Protein coding
G3V2B1 G3V3P0 G3V449
G3V519 G3V5B1
-CDS 3' incomplete
ENST00000554131.1PSEN1-020591109aaENSP00000451915.1
 
Protein coding
G3V4M0 G3V4P4 -CDS 3' incomplete
ENST00000557293.1PSEN1-01557699aaENSP00000451880.1
 
Protein coding
G3V4M0 -CDS 3' incomplete
ENST00000556864.1PSEN1-00757463aaENSP00000451588.1
 
Protein coding
G3V3P0 G3V449 G3V5B1
-CDS 3' incomplete
ENST00000557356.1PSEN1-013571135aaENSP00000451498.1
 
Protein coding
G3V2B1 G3V3P0 G3V3Z0
G3V449 G3V519 G3V5B1
H0YM52
-CDS 3' incomplete
ENST00000557037.1PSEN1-00855562aaENSP00000451347.1
 
Protein coding
G3V3P0 G3V5B1 -CDS 3' incomplete
ENST00000556951.1PSEN1-01455291aaENSP00000450551.1
 
Protein coding
G3V2B1 G3V3P0 G3V449
G3V5B1
-CDS 3' incomplete
ENST00000556533.1PSEN1-00955092aaENSP00000452128.1
 
Protein coding
G3V2B1 G3V3P0 G3V449
G3V519 G3V5B1
-CDS 3' incomplete
ENST00000556011.1PSEN1-02644242aaENSP00000451662.1
 
Protein coding
G3V490 -CDS 3' incomplete
ENST00000555386.1PSEN1-0061484374aaENSP00000450845.1
 
Nonsense mediated decay
G3V2B1 G3V3P0 G3V3Z0
G3V449 G3V499 G3V519
G3V5B1 H0YM52 P49768
--
ENST00000553855.1PSEN1-0241254378aaENSP00000452242.1
 
Nonsense mediated decay
G3V2G7 G3V4M0 G3V4P4
P49768
--
ENST00000559361.1PSEN1-02979557aaENSP00000454156.1
 
Nonsense mediated decay
H0YNU4 --
ENST00000553447.2PSEN1-019572No protein-
 
Processed transcript
---
ENST00000555867.1PSEN1-022876No protein-
 
Retained intron
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ENST00000554995.1PSEN1-023592No protein-
 
Retained intron
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