Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PSEN1 (presenilin 1)

Identity

Other namesAD3
FAD
PS-1
PS1
S182
HGNC (Hugo) PSEN1
LocusID (NCBI) 5663
Location 14q24.2
Location_base_pair Starts at 73603143 and ends at 73690399 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065

External links

Nomenclature
HGNC (Hugo)PSEN1   9508
Cards
Entrez_Gene (NCBI)PSEN1  5663  presenilin 1
GeneCards (Weizmann)PSEN1
Ensembl (Hinxton)ENSG00000080815 [Gene_View]  chr14:73603143-73690399 [Contig_View]  PSEN1 [Vega]
ICGC DataPortalENSG00000080815
cBioPortalPSEN1
AceView (NCBI)PSEN1
Genatlas (Paris)PSEN1
WikiGenes5663
SOURCE (Princeton)NM_000021 NM_007318 NM_007319
Genomic and cartography
GoldenPath (UCSC)PSEN1  -  14q24.2   chr14:73603143-73690399 +  14q24.2   [Description]    (hg19-Feb_2009)
EnsemblPSEN1 - 14q24.2 [CytoView]
Mapping of homologs : NCBIPSEN1 [Mapview]
OMIM104311   172700   600274   607822   613694   613737   
Gene and transcription
Genbank (Entrez)AF416717 AJ008005 AK094186 AK094256 AK122722
RefSeq transcript (Entrez)NM_000021 NM_007318 NM_007319
RefSeq genomic (Entrez)AC_000146 NC_000014 NC_018925 NG_007386 NT_026437 NW_001838113 NW_004929393
Consensus coding sequences : CCDS (NCBI)PSEN1
Cluster EST : UnigeneHs.3260 [ NCBI ]
CGAP (NCI)Hs.3260
Alternative Splicing : Fast-db (Paris)GSHG0008966
Alternative Splicing GalleryENSG00000080815
Gene ExpressionPSEN1 [ NCBI-GEO ]     PSEN1 [ SEEK ]   PSEN1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49768 (Uniprot)
NextProtP49768  [Medical]
With graphics : InterProP49768
Splice isoforms : SwissVarP49768 (Swissvar)
Catalytic activity : Enzyme3.4.23.- [ Enzyme-Expasy ]   3.4.23.-3.4.23.- [ IntEnz-EBI ]   3.4.23.- [ BRENDA ]   3.4.23.- [ KEGG ]   
Domains : Interpro (EBI)Pept_A22A_PS1 [organisation]   Peptidase_A22A [organisation]   Preselin/SPP [organisation]  
Related proteins : CluSTrP49768
Domain families : Pfam (Sanger)Presenilin (PF01080)   
Domain families : Pfam (NCBI)pfam01080   
Domain families : Smart (EMBL)PSN (SM00730)  
DMDM Disease mutations5663
Blocks (Seattle)P49768
PDB (SRS)2KR6   
PDB (PDBSum)2KR6   
PDB (IMB)2KR6   
PDB (RSDB)2KR6   
Human Protein AtlasENSG00000080815 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP49768
HPRD00087
IPIIPI00028077   IPI00219934   IPI00289615   IPI00068752   IPI00337671   IPI00514137   IPI01018728   IPI00922567   IPI01025115   IPI01025604   IPI01025481   IPI01025225   IPI01025982   IPI01025851   IPI01025737   IPI01025091   IPI01026162   IPI00879612   
Protein Interaction databases
DIP (DOE-UCLA)P49768
IntAct (EBI)P49768
FunCoupENSG00000080815
BioGRIDPSEN1
InParanoidP49768
Interologous Interaction database P49768
IntegromeDBPSEN1
STRING (EMBL)PSEN1
Ontologies - Pathways
Ontology : AmiGOautophagic vacuole assembly  negative regulation of transcription from RNA polymerase II promoter  Golgi membrane  activation of MAPKK activity  kinetochore  blood vessel development  cell fate specification  somitogenesis  neuron migration  positive regulation of receptor recycling  heart looping  hematopoietic progenitor cell differentiation  T cell activation involved in immune response  myeloid leukocyte differentiation  endopeptidase activity  aspartic-type endopeptidase activity  calcium channel activity  protein binding  nuclear outer membrane  mitochondrion  mitochondrial inner membrane  lysosomal membrane  endoplasmic reticulum  endoplasmic reticulum membrane  smooth endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  centrosome  integral component of plasma membrane  cell cortex  protein glycosylation  membrane protein ectodomain proteolysis  mitochondrial transport  cellular response to DNA damage stimulus  response to oxidative stress  negative regulation of epidermal growth factor-activated receptor activity  Notch signaling pathway  Notch receptor processing  Notch receptor processing  memory  beta-catenin binding  post-embryonic development  cell surface  protein transport  L-glutamate transport  choline transport  membrane  integral component of membrane  synaptic vesicle targeting  apical plasma membrane  single organismal cell-cell adhesion  protein processing  cerebral cortex cell migration  Cajal-Retzius cell differentiation  dorsal/ventral neural tube patterning  extracellular matrix disassembly  Z disc  PDZ domain binding  extracellular matrix organization  embryonic limb morphogenesis  axon  growth cone  cytoplasmic vesicle  neuromuscular junction  nuclear membrane  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  endoplasmic reticulum calcium ion homeostasis  endoplasmic reticulum calcium ion homeostasis  beta-amyloid formation  ciliary rootlet  intracellular signal transduction  regulation of phosphorylation  anagen  amyloid precursor protein catabolic process  amyloid precursor protein catabolic process  neuronal cell body  positive regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of catalytic activity  dendritic shaft  regulation of protein binding  positive regulation of MAP kinase activity  negative regulation of neuron apoptotic process  skin morphogenesis  membrane raft  membrane raft  cadherin binding  regulation of synaptic plasticity  perinuclear region of cytoplasm  thymus development  neuron development  skeletal system morphogenesis  brain morphogenesis  beta-amyloid metabolic process  epithelial cell proliferation  negative regulation of axonogenesis  positive regulation of coagulation  T cell receptor signaling pathway  neuron apoptotic process  negative regulation of ubiquitin-protein transferase activity  smooth endoplasmic reticulum calcium ion homeostasis  regulation of synaptic transmission, glutamatergic  canonical Wnt signaling pathway  regulation of resting membrane potential  calcium ion transmembrane transport  gamma-secretase complex  negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  negative regulation of apoptotic signaling pathway  
Ontology : EGO-EBIautophagic vacuole assembly  negative regulation of transcription from RNA polymerase II promoter  Golgi membrane  activation of MAPKK activity  kinetochore  blood vessel development  cell fate specification  somitogenesis  neuron migration  positive regulation of receptor recycling  heart looping  hematopoietic progenitor cell differentiation  T cell activation involved in immune response  myeloid leukocyte differentiation  endopeptidase activity  aspartic-type endopeptidase activity  calcium channel activity  protein binding  nuclear outer membrane  mitochondrion  mitochondrial inner membrane  lysosomal membrane  endoplasmic reticulum  endoplasmic reticulum membrane  smooth endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  centrosome  integral component of plasma membrane  cell cortex  protein glycosylation  membrane protein ectodomain proteolysis  mitochondrial transport  cellular response to DNA damage stimulus  response to oxidative stress  negative regulation of epidermal growth factor-activated receptor activity  Notch signaling pathway  Notch receptor processing  Notch receptor processing  memory  beta-catenin binding  post-embryonic development  cell surface  protein transport  L-glutamate transport  choline transport  membrane  integral component of membrane  synaptic vesicle targeting  apical plasma membrane  single organismal cell-cell adhesion  protein processing  cerebral cortex cell migration  Cajal-Retzius cell differentiation  dorsal/ventral neural tube patterning  extracellular matrix disassembly  Z disc  PDZ domain binding  extracellular matrix organization  embryonic limb morphogenesis  axon  growth cone  cytoplasmic vesicle  neuromuscular junction  nuclear membrane  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  endoplasmic reticulum calcium ion homeostasis  endoplasmic reticulum calcium ion homeostasis  beta-amyloid formation  ciliary rootlet  intracellular signal transduction  regulation of phosphorylation  anagen  amyloid precursor protein catabolic process  amyloid precursor protein catabolic process  neuronal cell body  positive regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of catalytic activity  dendritic shaft  regulation of protein binding  positive regulation of MAP kinase activity  negative regulation of neuron apoptotic process  skin morphogenesis  membrane raft  membrane raft  cadherin binding  regulation of synaptic plasticity  perinuclear region of cytoplasm  thymus development  neuron development  skeletal system morphogenesis  brain morphogenesis  beta-amyloid metabolic process  epithelial cell proliferation  negative regulation of axonogenesis  positive regulation of coagulation  T cell receptor signaling pathway  neuron apoptotic process  negative regulation of ubiquitin-protein transferase activity  smooth endoplasmic reticulum calcium ion homeostasis  regulation of synaptic transmission, glutamatergic  canonical Wnt signaling pathway  regulation of resting membrane potential  calcium ion transmembrane transport  gamma-secretase complex  negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  negative regulation of apoptotic signaling pathway  
Pathways : BIOCARTAHIV-I Nef: negative effector of Fas and TNF [Genes]    Generation of amyloid b-peptide by PS1 [Genes]    Presenilin action in Notch and Wnt signaling [Genes]    Proteolysis and Signaling of Notch [Genes]    g-Secretase mediated ErbB4 Signaling [Genes]   
Pathways : KEGGWnt signaling pathway    Notch signaling pathway    Neurotrophin signaling pathway    Alzheimer's disease   
Protein Interaction DatabasePSEN1
Wikipedia pathwaysPSEN1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PSEN1
snp3D : Map Gene to Disease5663
SNP (GeneSNP Utah)PSEN1
SNP : HGBasePSEN1
Genetic variants : HAPMAPPSEN1
Exome VariantPSEN1
1000_GenomesPSEN1 
ICGC programENSG00000080815 
Somatic Mutations in Cancer : COSMICPSEN1 
CONAN: Copy Number AnalysisPSEN1 
Mutations and Diseases : HGMDPSEN1
Mutations and Diseases : intOGenPSEN1
Genomic VariantsPSEN1  PSEN1 [DGVbeta]
dbVarPSEN1
ClinVarPSEN1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM104311    172700    600274    607822    613694    613737   
MedgenPSEN1
GENETestsPSEN1
Disease Genetic AssociationPSEN1
Huge Navigator PSEN1 [HugePedia]  PSEN1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePSEN1
Homology/Alignments : Family Browser (UCSC)PSEN1
Phylogenetic Trees/Animal Genes : TreeFamPSEN1
Chemical/Protein Interactions : CTD5663
Chemical/Pharm GKB GenePA33855
Clinical trialPSEN1
Cancer Resource (Charite)ENSG00000080815
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMinePSEN1
iHOPPSEN1
OncoSearchPSEN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 17:01:25 CEST 2014

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