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Protein

Presenilin

Gene

PSEN2

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score: -Protein inferred from homologyi

Functioni

Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors.UniRule annotation

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase, ProteaseUniRule annotation
Biological processNotch signaling pathwayUniRule annotation

Names & Taxonomyi

Protein namesi
Recommended name:
PresenilinUniRule annotation (EC:3.4.23.-UniRule annotation)
Gene namesi
Name:PSEN2Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143801.16
HGNCiHGNC:9509 PSEN2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei30 – 46HelicalUniRule annotationAdd BLAST17
Transmembranei53 – 71HelicalUniRule annotationAdd BLAST19
Transmembranei77 – 96HelicalUniRule annotationAdd BLAST20

Keywords - Cellular componenti

Endoplasmic reticulumUniRule annotation, Golgi apparatusUniRule annotation, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000143801

PTM / Processingi

Proteomic databases

EPDiE5RFW4
PeptideAtlasiE5RFW4
PRIDEiE5RFW4

Expressioni

Gene expression databases

BgeeiENSG00000143801 Expressed in 156 organ(s), highest expression level in body of pancreas
ExpressionAtlasiE5RFW4 baseline and differential

Interactioni

Subunit structurei

Homodimer.UniRule annotation

Structurei

3D structure databases

ProteinModelPortaliE5RFW4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The PAL motif is required for normal active site conformation.UniRule annotation

Sequence similaritiesi

Belongs to the peptidase A22A family.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helixUniRule annotationSAAS annotation

Phylogenomic databases

eggNOGiKOG2736 Eukaryota
ENOG410XPZD LUCA
GeneTreeiENSGT00390000016593

Family and domain databases

InterProiView protein in InterPro
IPR001108 Peptidase_A22A
IPR006639 Preselin/SPP
PANTHERiPTHR10202 PTHR10202, 1 hit
PfamiView protein in Pfam
PF01080 Presenilin, 1 hit
PRINTSiPR01072 PRESENILIN
SMARTiView protein in SMART
SM00730 PSN, 1 hit

Sequence (1+)i

Sequence statusi: Fragment.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

E5RFW4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSSLMLLFLF TYIYLGEVLK TYNVAMDYPT LLLTVWNFGA VGMVCIHWKG
60 70 80 90 100
PLVLQQAYLI MISALMALVF IKYLPEWSAW VILGAISVYD LVAVLCPKGP
110 120 130 140
LRMLVETAQE RNEPIFPALI YSSAMVWTVG MAKLDPSSQG ALQL
Length:144
Mass (Da):16,111
Last modified:October 5, 2016 - v8
Checksum:i9CE9DFC9B9E173B2
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
P49810PSN2_HUMAN
Presenilin-2
PSEN2 AD4, PS2, PSNL2, STM2
448Annotation score:
B1AP22B1AP22_HUMAN
Presenilin
PSEN2 hCG_15757
481Annotation score:
E5RG63E5RG63_HUMAN
Presenilin
PSEN2
304Annotation score:
E5RHT1E5RHT1_HUMAN
Presenilin-2
PSEN2
129Annotation score:
E5RJM5E5RJM5_HUMAN
Presenilin-2
PSEN2
21Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Non-terminal residuei144Imported1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL359732 Genomic DNA No translation available.
AL391628 Genomic DNA No translation available.

Genome annotation databases

EnsembliENST00000460775; ENSP00000427912; ENSG00000143801
UCSCiuc057pzc.1 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL359732 Genomic DNA No translation available.
AL391628 Genomic DNA No translation available.

3D structure databases

ProteinModelPortaliE5RFW4
ModBaseiSearch...
MobiDBiSearch...

Proteomic databases

EPDiE5RFW4
PeptideAtlasiE5RFW4
PRIDEiE5RFW4

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000460775; ENSP00000427912; ENSG00000143801
UCSCiuc057pzc.1 human

Organism-specific databases

EuPathDBiHostDB:ENSG00000143801.16
HGNCiHGNC:9509 PSEN2
OpenTargetsiENSG00000143801
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2736 Eukaryota
ENOG410XPZD LUCA
GeneTreeiENSGT00390000016593

Miscellaneous databases

ChiTaRSiPSEN2 human

Gene expression databases

BgeeiENSG00000143801 Expressed in 156 organ(s), highest expression level in body of pancreas
ExpressionAtlasiE5RFW4 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR001108 Peptidase_A22A
IPR006639 Preselin/SPP
PANTHERiPTHR10202 PTHR10202, 1 hit
PfamiView protein in Pfam
PF01080 Presenilin, 1 hit
PRINTSiPR01072 PRESENILIN
SMARTiView protein in SMART
SM00730 PSN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiE5RFW4_HUMAN
AccessioniPrimary (citable) accession number: E5RFW4
Entry historyiIntegrated into UniProtKB/TrEMBL: February 8, 2011
Last sequence update: October 5, 2016
Last modified: September 12, 2018
This is version 63 of the entry and version 8 of the sequence. See complete history.
Entry statusiUnreviewed (UniProtKB/TrEMBL)
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteomeImported
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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