UniProt Accession

 PSN2_HUMAN; P49810; A8K8D4; B1AP21; Q96P32 

Genbank Protein ID

 L43964; L44577; U34349; U50871; BT006984; AK292299; AL391628; CH471098; CH471098; BC006365; AF416718 

Genbank Nucleotide ID

 AAB59557.1; AAC42012.1; AAC50290.1; AAB50054.1; AAP35630.1; BAF84988.1; CAH73110.1; EAW69798.1; EAW69800.1; AAH06365.1; AAL16812.1 

Protein Name

 Presenilin-2 

Protein Synonyms/Alias

 PS-2; AD3LP; AD5; E5-1; STM-2; Presenilin-2 NTF subunit; Presenilin-2 CTF subunit 

Gene Name

 PSEN2 

Gene Synonyms/Alias

 AD4; PS2; PSNL2; STM2 

Created Date

 July 27, 2013 

Organism

 Homo sapiens (Human) 

NCBI Taxa ID

 9606 

Lysine Modification

Position	Peptide	Type	References
115	SVRFYTEKNGQLIYT	ubiquitination	[1]

Reference

 [1] Systematic and quantitative assessment of the ubiquitin-modified proteome.
 Kim W, Bennett EJ, Huttlin EL, Guo A, Li J, Possemato A, Sowa ME, Rad R, Rush J, Comb MJ, Harper JW, Gygi SP.
 Mol Cell. 2011 Oct 21;44(2):325-40. [PMID: 21906983] 

Functional Description

 Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. 

Sequence Annotation

 MOTIF 414 416 PAL.
 ACT_SITE 263 263 Probable.
 ACT_SITE 366 366 Probable.
 MOD_RES 22 22 Phosphoserine.
 MOD_RES 25 25 Phosphoserine.
 MOD_RES 30 30 Phosphoserine (By similarity).  

Keyword

 Alternative splicing; Alzheimer disease; Amyloidosis; Cardiomyopathy; Complete proteome; Disease mutation; Endoplasmic reticulum; Golgi apparatus; Hydrolase; Membrane; Neurodegeneration; Notch signaling pathway; Phosphoprotein; Protease; Reference proteome; Transmembrane; Transmembrane helix. 

Sequence Source

 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 

Protein Length

 448 AA 

Protein Sequence

Gene Ontology

 GO:0016324; C:apical plasma membrane; IBA:RefGenome.
 GO:0030424; C:axon; IBA:RefGenome.
 GO:0005938; C:cell cortex; IBA:RefGenome.
 GO:0009986; C:cell surface; IBA:RefGenome.
 GO:0005813; C:centrosome; IDA:UniProtKB.
 GO:0035253; C:ciliary rootlet; IBA:RefGenome.
 GO:0005829; C:cytosol; IEA:Compara.
 GO:0043198; C:dendritic shaft; IBA:RefGenome.
 GO:0005783; C:endoplasmic reticulum; IDA:HGNC.
 GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
 GO:0005794; C:Golgi apparatus; IDA:HGNC.
 GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
 GO:0030426; C:growth cone; IBA:RefGenome.
 GO:0005887; C:integral to plasma membrane; IDA:HGNC.
 GO:0000776; C:kinetochore; IDA:UniProtKB.
 GO:0005765; C:lysosomal membrane; IBA:RefGenome.
 GO:0045121; C:membrane raft; IBA:RefGenome.
 GO:0005743; C:mitochondrial inner membrane; IBA:RefGenome.
 GO:0031594; C:neuromuscular junction; IBA:RefGenome.
 GO:0043025; C:neuronal cell body; IBA:RefGenome.
 GO:0005637; C:nuclear inner membrane; IDA:UniProtKB.
 GO:0048471; C:perinuclear region of cytoplasm; IBA:RefGenome.
 GO:0030018; C:Z disc; IBA:RefGenome.
 GO:0004190; F:aspartic-type endopeptidase activity; IEA:InterPro.
 GO:0004175; F:endopeptidase activity; IBA:RefGenome.
 GO:0042987; P:amyloid precursor protein catabolic process; TAS:HGNC.
 GO:0042640; P:anagen; IEA:Compara.
 GO:0097190; P:apoptotic signaling pathway; TAS:Reactome.
 GO:0050435; P:beta-amyloid metabolic process; IBA:RefGenome.
 GO:0048854; P:brain morphogenesis; IEA:Compara.
 GO:0006816; P:calcium ion transport; IBA:RefGenome.
 GO:0060048; P:cardiac muscle contraction; IEA:Compara.
 GO:0001708; P:cell fate specification; IEA:Compara.
 GO:0021904; P:dorsal/ventral neural tube patterning; IEA:Compara.
 GO:0030326; P:embryonic limb morphogenesis; IEA:Compara.
 GO:0032469; P:endoplasmic reticulum calcium ion homeostasis; IEA:Compara.
 GO:0030900; P:forebrain development; IEA:Compara.
 GO:0002244; P:hematopoietic progenitor cell differentiation; IEA:Compara.
 GO:0035556; P:intracellular signal transduction; IEA:InterPro.
 GO:0040011; P:locomotion; IEA:Compara.
 GO:0048286; P:lung alveolus development; IEA:Compara.
 GO:0006509; P:membrane protein ectodomain proteolysis; IDA:HGNC.
 GO:0031293; P:membrane protein intracellular domain proteolysis; TAS:Reactome.
 GO:0007613; P:memory; IEA:Compara.
 GO:0002573; P:myeloid leukocyte differentiation; IEA:Compara.
 GO:0001933; P:negative regulation of protein phosphorylation; IEA:Compara.
 GO:0048011; P:neurotrophin TRK receptor signaling pathway; TAS:Reactome.
 GO:0007220; P:Notch receptor processing; TAS:HGNC.
 GO:0007219; P:Notch signaling pathway; TAS:Reactome.
 GO:0043065; P:positive regulation of apoptotic process; IEA:Compara.
 GO:0043085; P:positive regulation of catalytic activity; IDA:HGNC.
 GO:0050820; P:positive regulation of coagulation; IEA:Compara.
 GO:0016485; P:protein processing; IDA:HGNC.
 GO:0015031; P:protein transport; IEA:Compara.
 GO:0007176; P:regulation of epidermal growth factor-activated receptor activity; IEA:Compara.
 GO:0043393; P:regulation of protein binding; IEA:Compara.
 GO:0048167; P:regulation of synaptic plasticity; IEA:Compara.
 GO:0001666; P:response to hypoxia; IEA:Compara.
 GO:0001756; P:somitogenesis; IEA:Compara.
 GO:0002286; P:T cell activation involved in immune response; IEA:Compara.
 GO:0050852; P:T cell receptor signaling pathway; IEA:Compara.
 GO:0048538; P:thymus development; IEA:Compara. 

Interpro

 IPR001493; Pept_A22A_PS2.
 IPR006639; Peptidase_A22.
 IPR001108; Peptidase_A22A. 

Pfam

 PF01080; Presenilin 

SMART

 SM00730; PSN 

PROSITE

  

PRINTS

 PR01072; PRESENILIN.
 PR01074; PRESENILIN2.