PSEN1 (presenilin 1) - Rat Genome Database

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Gene: PSEN1 (presenilin 1) Canis lupus familiaris
Analyze
Symbol: PSEN1
Name: presenilin 1
RGD ID: 12265224
Description: ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (ortholog); aspartic-type endopeptidase activity (ortholog); endopeptidase activity (ortholog); INVOLVED IN amyloid precursor protein catabolic process (ortholog); amyloid precursor protein metabolic process (ortholog); amyloid-beta formation (ortholog); PARTICIPATES IN Notch signaling pathway; Notch signaling pathway; syndecan signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 3 (ortholog); Alzheimer's disease 4 (ortholog); FOUND IN aggresome (ortholog); axon (ortholog); cell cortex (ortholog)
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: presenilin 1 (Alzheimer disease 3); presenilin-1; PS-1
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1846,495,551 - 46,569,532 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl846,495,624 - 46,569,532 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha846,188,004 - 46,253,311 (+)NCBI
ROS_Cfam_1.0846,719,986 - 46,800,157 (+)NCBI
UMICH_Zoey_3.1846,399,068 - 46,464,638 (+)NCBI
UNSW_CanFamBas_1.0846,414,872 - 46,480,438 (+)NCBI
UU_Cfam_GSD_1.0846,805,794 - 46,871,397 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid precursor protein catabolic process  (IBA,ISO)
amyloid precursor protein metabolic process  (ISS)
amyloid-beta formation  (IEA,ISO,ISS)
amyloid-beta metabolic process  (IBA,ISO)
apoptotic process  (IEA)
astrocyte activation  (ISO)
astrocyte activation involved in immune response  (IEA)
autophagosome assembly  (IEA,ISO)
autophagy  (ISO)
blood vessel development  (IEA,ISO)
brain development  (ISO)
brain morphogenesis  (IEA,ISO)
Cajal-Retzius cell differentiation  (IEA,ISO)
calcium ion transmembrane transport  (IEA)
calcium ion transport  (IBA)
cell adhesion  (IEA)
cell fate specification  (IEA,ISO)
cell-cell adhesion  (IEA,ISO)
cellular calcium ion homeostasis  (ISO)
cellular protein metabolic process  (ISO)
cellular response to amyloid-beta  (IEA)
cellular response to DNA damage stimulus  (IEA,ISO)
cerebellum development  (ISO)
cerebral cortex cell migration  (IEA,ISO)
cerebral cortex development  (ISO)
choline transport  (IEA,ISO)
dorsal/ventral neural tube patterning  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO)
endoplasmic reticulum calcium ion homeostasis  (ISO,ISS)
epithelial cell proliferation  (IEA,ISO)
forebrain development  (ISO)
gene expression  (ISO)
heart development  (ISO)
heart looping  (IEA,ISO)
hematopoietic progenitor cell differentiation  (IEA,ISO)
intracellular signal transduction  (IEA)
L-glutamate import across plasma membrane  (IEA,ISO)
learning or memory  (ISO)
locomotion  (ISO)
membrane protein ectodomain proteolysis  (IBA,ISO,ISS)
memory  (IEA,ISO)
mitochondrial transport  (IEA,ISO)
modulation of age-related behavioral decline  (IEA)
myeloid dendritic cell differentiation  (IEA,ISO)
myeloid leukocyte differentiation  (ISO)
negative regulation of apoptotic process  (IBA,ISO)
negative regulation of apoptotic signaling pathway  (IEA,ISO)
negative regulation of axonogenesis  (IEA,ISO)
negative regulation of core promoter binding  (IEA)
negative regulation of epidermal growth factor-activated receptor activity  (IEA)
negative regulation of gene expression  (IEA)
negative regulation of low-density lipoprotein receptor activity  (ISO)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of protein kinase activity  (ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of transcription by RNA polymerase II  (IEA)
negative regulation of ubiquitin-dependent protein catabolic process  (IEA)
negative regulation of ubiquitin-protein transferase activity  (IEA)
neural retina development  (ISO)
neurogenesis  (ISO)
neuron apoptotic process  (IEA,ISO)
neuron development  (IEA,ISO)
neuron differentiation  (ISO)
neuron migration  (IEA,ISO)
neuron projection maintenance  (IEA)
Notch receptor processing  (IBA,ISO)
Notch signaling pathway  (IEA,ISO)
positive regulation of amyloid fibril formation  (IEA)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of catalytic activity  (ISS)
positive regulation of coagulation  (IEA,ISO)
positive regulation of dendritic spine development  (IEA)
positive regulation of gene expression  (ISO)
positive regulation of glycolytic process  (IEA)
positive regulation of L-glutamate import across plasma membrane  (IEA,ISO)
positive regulation of MAP kinase activity  (IEA,ISO)
positive regulation of phosphorylation  (ISO)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IEA)
positive regulation of protein binding  (IEA)
positive regulation of protein import into nucleus  (IEA)
positive regulation of protein kinase activity  (ISO)
positive regulation of protein phosphorylation  (ISO)
positive regulation of receptor recycling  (IEA)
positive regulation of transcription, DNA-templated  (IEA)
positive regulation of tumor necrosis factor production  (IEA)
post-embryonic development  (IEA,ISO)
protein glycosylation  (IEA,ISO)
protein maturation  (ISO)
protein processing  (IEA,ISO,ISS)
protein transport  (IEA,ISO)
regulation of canonical Wnt signaling pathway  (IEA,ISS)
regulation of epidermal growth factor-activated receptor activity  (ISO)
regulation of gene expression  (ISO)
regulation of neuron projection development  (ISS)
regulation of phosphorylation  (ISO)
regulation of protein binding  (ISO)
regulation of resting membrane potential  (IEA,ISO)
regulation of synaptic plasticity  (IEA,ISO)
regulation of synaptic transmission, glutamatergic  (IEA,ISO)
response to oxidative stress  (IEA,ISO)
segmentation  (ISO)
sequestering of calcium ion  (IEA,ISO)
skeletal system morphogenesis  (IEA,ISO)
skin morphogenesis  (IEA)
smooth endoplasmic reticulum calcium ion homeostasis  (IBA,ISO)
somitogenesis  (IEA,ISO)
synapse organization  (IEA)
synaptic vesicle targeting  (IEA,ISO)
T cell activation involved in immune response  (IEA,ISO)
T cell receptor signaling pathway  (IEA,ISO)
thymus development  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:20875843  


Genomics

Comparative Map Data
PSEN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1846,495,551 - 46,569,532 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl846,495,624 - 46,569,532 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha846,188,004 - 46,253,311 (+)NCBI
ROS_Cfam_1.0846,719,986 - 46,800,157 (+)NCBI
UMICH_Zoey_3.1846,399,068 - 46,464,638 (+)NCBI
UNSW_CanFamBas_1.0846,414,872 - 46,480,438 (+)NCBI
UU_Cfam_GSD_1.0846,805,794 - 46,871,397 (+)NCBI
PSEN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1473,136,418 - 73,223,691 (+)EnsemblGRCh38hg38GRCh38
GRCh381473,136,436 - 73,223,691 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371473,603,215 - 73,690,399 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361472,672,932 - 72,756,862 (+)NCBINCBI36hg18NCBI36
Build 341472,684,480 - 72,755,750NCBI
Celera1453,666,429 - 53,753,632 (+)NCBI
Cytogenetic Map14q24.2NCBI
HuRef1453,768,824 - 53,855,913 (+)NCBIHuRef
CHM1_11473,542,049 - 73,629,540 (+)NCBICHM1_1
Psen1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391283,734,926 - 83,781,869 (+)NCBIGRCm39mm39
GRCm39 Ensembl1283,734,926 - 83,781,973 (+)Ensembl
GRCm381283,688,152 - 83,735,095 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1283,688,152 - 83,735,199 (+)EnsemblGRCm38mm10GRCm38
MGSCv371285,029,513 - 85,076,149 (+)NCBIGRCm37mm9NCBIm37
MGSCv361284,578,311 - 84,624,947 (+)NCBImm8
Celera1285,135,054 - 85,181,689 (+)NCBICelera
Cytogenetic Map12D1NCBI
cM Map1238.84NCBI
Psen1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26103,323,014 - 103,375,088 (+)NCBI
Rnor_6.0 Ensembl6107,169,528 - 107,216,798 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.06107,169,514 - 107,221,000 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06118,324,910 - 118,373,090 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46107,737,543 - 107,776,357 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16107,729,188 - 107,781,021 (+)NCBI
Celera6101,163,513 - 101,199,486 (+)NCBICelera
Cytogenetic Map6q24NCBI
Psen1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555232,128,529 - 2,210,737 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555232,128,529 - 2,210,737 (-)NCBIChiLan1.0ChiLan1.0
PSEN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11472,579,024 - 72,663,876 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1472,579,024 - 72,663,876 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01453,718,299 - 53,802,684 (+)NCBIMhudiblu_PPA_v0panPan3
Psen1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864029,540,161 - 29,604,355 (-)NCBI
SpeTri2.0NW_0049364882,464,623 - 2,528,807 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSEN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl796,478,181 - 96,569,132 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1796,478,179 - 96,567,884 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27102,265,830 - 102,360,301 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap7q12-q26NCBI
PSEN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12450,394,310 - 50,476,521 (+)NCBI
ChlSab1.1 Ensembl2450,405,590 - 50,472,132 (+)Ensembl
Vero_WHO_p1.0NW_02366605338,577,780 - 38,659,678 (+)NCBI
Psen1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473428,200,358 - 28,272,684 (-)NCBI


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system reproductive system respiratory system adipose tissue
High
Medium 5 16 6 6 12 8 10 6
Low 5 6 6 6 6
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001002943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005623169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005623170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_014115643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_014115644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038672831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038672832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038672833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038672834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AAEX04000008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY498704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY498705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY926590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAHUQ010000087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAQRD010000096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAUVH010000053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  REHQ01000008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSCAFT00000026626   ⟹   ENSCAFP00000024732
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl846,506,229 - 46,569,532 (+)Ensembl
RefSeq Acc Id: ENSCAFT00000036386   ⟹   ENSCAFP00000031755
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl846,495,624 - 46,568,483 (+)Ensembl
RefSeq Acc Id: ENSCAFT00000064018   ⟹   ENSCAFP00000047422
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl846,506,229 - 46,569,532 (+)Ensembl
RefSeq Acc Id: ENSCAFT00000072273   ⟹   ENSCAFP00000056188
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl846,495,624 - 46,530,696 (+)Ensembl
RefSeq Acc Id: NM_001002943   ⟹   NP_001002943
RefSeq Status: VALIDATED
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1846,506,229 - 46,569,532 (+)NCBI
Dog10K_Boxer_Tasha846,188,004 - 46,253,311 (+)NCBI
ROS_Cfam_1.0846,731,142 - 46,797,044 (+)NCBI
UMICH_Zoey_3.1846,399,068 - 46,464,638 (+)NCBI
UNSW_CanFamBas_1.0846,414,872 - 46,480,438 (+)NCBI
UU_Cfam_GSD_1.0846,805,794 - 46,871,397 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293284   ⟹   NP_001280213
RefSeq Status: VALIDATED
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1846,506,229 - 46,569,532 (+)NCBI
Dog10K_Boxer_Tasha846,188,004 - 46,253,311 (+)NCBI
ROS_Cfam_1.0846,731,142 - 46,797,044 (+)NCBI
UMICH_Zoey_3.1846,399,068 - 46,464,638 (+)NCBI
UNSW_CanFamBas_1.0846,414,872 - 46,480,438 (+)NCBI
UU_Cfam_GSD_1.0846,805,794 - 46,871,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005623169   ⟹   XP_005623226
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1846,495,551 - 46,569,532 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005623170   ⟹   XP_005623227
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1846,495,551 - 46,569,532 (+)NCBI
Sequence:
RefSeq Acc Id: XM_014115643   ⟹   XP_013971118
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1846,495,556 - 46,569,532 (+)NCBI
Sequence:
RefSeq Acc Id: XM_014115644   ⟹   XP_013971119
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1846,495,847 - 46,569,532 (+)NCBI
Sequence:
RefSeq Acc Id: XM_038672831   ⟹   XP_038528759
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0846,719,986 - 46,800,157 (+)NCBI
RefSeq Acc Id: XM_038672832   ⟹   XP_038528760
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0846,719,994 - 46,800,157 (+)NCBI
RefSeq Acc Id: XM_038672833   ⟹   XP_038528761
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0846,720,190 - 46,800,157 (+)NCBI
RefSeq Acc Id: XM_038672834   ⟹   XP_038528762
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0846,719,986 - 46,800,157 (+)NCBI
Reference Sequences
RefSeq Acc Id: XP_005623226   ⟸   XM_005623169
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005623227   ⟸   XM_005623170
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_013971118   ⟸   XM_014115643
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_013971119   ⟸   XM_014115644
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001002943   ⟸   NM_001002943
- Peptide Label: isoform 1
- UniProtKB: Q6RH31 (UniProtKB/Swiss-Prot),   F1PHD2 (UniProtKB/TrEMBL),   Q56JJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280213   ⟸   NM_001293284
- Peptide Label: isoform 2
- UniProtKB: Q6RH31 (UniProtKB/Swiss-Prot),   Q56JJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSCAFP00000047422   ⟸   ENSCAFT00000064018
RefSeq Acc Id: ENSCAFP00000056188   ⟸   ENSCAFT00000072273
RefSeq Acc Id: ENSCAFP00000031755   ⟸   ENSCAFT00000036386
RefSeq Acc Id: ENSCAFP00000024732   ⟸   ENSCAFT00000026626
RefSeq Acc Id: XP_038528759   ⟸   XM_038672831
- Peptide Label: isoform X1
RefSeq Acc Id: XP_038528762   ⟸   XM_038672834
- Peptide Label: isoform X2
RefSeq Acc Id: XP_038528760   ⟸   XM_038672832
- Peptide Label: isoform X1
RefSeq Acc Id: XP_038528761   ⟸   XM_038672833
- Peptide Label: isoform X1


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000016815 Ensembl, ENTREZGENE
Ensembl Protein ENSCAFP00000024732 ENTREZGENE
Ensembl Transcript ENSCAFT00000026626 ENTREZGENE
NCBI Gene PSEN1 ENTREZGENE
UniProt F1PHD2 ENTREZGENE
  Q56JJ5 ENTREZGENE
  Q6RH31 ENTREZGENE
VGNC ID VGNC:45085 ENTREZGENE