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.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000324501.5 | PSEN1-001 | 6078 | 467aa | ENSP00000326366.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9812 | E7ES96 G3V2G7 G3V4M0 G3V4P4 P49768 | NM_007318.2 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000406768.1 | PSEN1-005 | 4062 | 375aa | ENSP00000385948.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7ES96 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
ENST00000394164.1 | PSEN1-003 | 3046 | 463aa | ENSP00000377719.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9813 | E7ES96 G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 P49768 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000344094.3 | PSEN1-202 | 2856 | 378aa | ENSP00000339523.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2G7 G3V4M0 G3V4P4 P49768 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
ENST00000357710.4 | PSEN1-002 | 2776 | 463aa | ENSP00000350342.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9813 | E7ES96 G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 P49768 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000261970.3 | PSEN1-201 | 2590 | 409aa | ENSP00000261970.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2G7 G3V4M0 G3V4P4 P49768 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
ENST00000394157.3 | PSEN1-004 | 1249 | 184aa | ENSP00000377712.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2G7 G3V4M0 G3V4P4 P49768 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
ENST00000557511.1 | PSEN1-027 | 1230 | 409aa | ENSP00000451429.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2G7 G3V4M0 G3V4P4 P49768 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
ENST00000555254.1 | PSEN1-021 | 754 | 155aa | ENSP00000450652.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2G7 G3V4M0 G3V4P4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000553719.1 | PSEN1-016 | 712 | 147aa | ENSP00000451674.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000560005.2 | PSEN1-028 | 699 | 109aa | ENSP00000453466.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V449 G3V519 G3V5B1 H0YM52 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000556066.1 | PSEN1-011 | 612 | 58aa | ENSP00000452267.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000553599.1 | PSEN1-012 | 591 | 91aa | ENSP00000452477.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V449 G3V519 G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000554131.1 | PSEN1-020 | 591 | 109aa | ENSP00000451915.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V4M0 G3V4P4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000557293.1 | PSEN1-015 | 576 | 99aa | ENSP00000451880.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V4M0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000556864.1 | PSEN1-007 | 574 | 63aa | ENSP00000451588.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V3P0 G3V449 G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000557356.1 | PSEN1-013 | 571 | 135aa | ENSP00000451498.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V519 G3V5B1 H0YM52 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000557037.1 | PSEN1-008 | 555 | 62aa | ENSP00000451347.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V3P0 G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000556951.1 | PSEN1-014 | 552 | 91aa | ENSP00000450551.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V449 G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000556533.1 | PSEN1-009 | 550 | 92aa | ENSP00000452128.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V449 G3V519 G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000556011.1 | PSEN1-026 | 442 | 42aa | ENSP00000451662.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V490 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000555386.1 | PSEN1-006 | 1484 | 374aa | ENSP00000450845.1 | Nonsense mediated decay | G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 P49768 | - | - | |
ENST00000553855.1 | PSEN1-024 | 1254 | 378aa | ENSP00000452242.1 | Nonsense mediated decay | G3V2G7 G3V4M0 G3V4P4 P49768 | - | - | |
ENST00000559361.1 | PSEN1-029 | 795 | 57aa | ENSP00000454156.1 | Nonsense mediated decay | H0YNU4 | - | - | |
ENST00000553447.2 | PSEN1-019 | 572 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000555867.1 | PSEN1-022 | 876 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000554995.1 | PSEN1-023 | 592 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |