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Entry version 159 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Gamma-secretase subunit PEN-2

Gene

PSENEN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111).Curated7 Publications

Caution

The high-resolution electron microscopy structures indicate that the N-terminus is cytoplasmic, followed by two short helices that dip into the membrane, but do not cross it (PubMed:26280335). In contrast, results based on mutagenesis to create N-glycosylation sites indicate that the N-terminus is lumenal (PubMed:12639958, PubMed:30598546, PubMed:30630874). Both studies indicate that the C-terminus is lumenal (PubMed:12639958, PubMed:26280335).4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processNotch signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-193692 Regulated proteolysis of p75NTR
R-HSA-205043 NRIF signals cell death from the nucleus
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus
R-HSA-9017802 Noncanonical activation of NOTCH3
R-HSA-977225 Amyloid fiber formation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9NZ42

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9NZ42

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gamma-secretase subunit PEN-2
Alternative name(s):
Presenilin enhancer protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PSENEN
Synonyms:PEN2
ORF Names:MDS033
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30100 PSENEN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607632 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZ42

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 17Cytoplasmic1 PublicationAdd BLAST17
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei18 – 36Helical1 PublicationAdd BLAST19
Topological domaini37 – 57Cytoplasmic1 PublicationAdd BLAST21
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei58 – 78Helical1 PublicationAdd BLAST21
Topological domaini79 – 101Lumenal1 Publication1 PublicationAdd BLAST23

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Acne inversa, familial, 2, with or without Dowling-Degos disease (ACNINV2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi10E → S: Induces a N-linked glycosylation on N-8. 1 Publication1
Mutagenesisi15C → A: Decreased APP processing by the gamma-secretase complex. 1 Publication1
Mutagenesisi15C → S: No effect on APP processing by the gamma-secretase complex. 1 Publication1
Mutagenesisi25F → A: Decreased APP processing by the gamma-secretase complex. 1 Publication1
Mutagenesisi26L → A: Decreased APP processing by the gamma-secretase complex. 1 Publication1
Mutagenesisi30W → A: Decreased expression levels, and decreased stimulation of presenilin endoproteolysis. 1 Publication1
Mutagenesisi33N → A: Increased expression at the cell membrane. 1 Publication1
Mutagenesisi36W → A: Decreased APP processing by the gamma-secretase complex. 1 Publication1
Mutagenesisi46A → N: No effect. 1 Publication1
Mutagenesisi54K → A: Decreased APP processing by the gamma-secretase complex. 1 Publication1
Mutagenesisi93S → N: Induces a N-linked glycosylation. 1 Publication1
Mutagenesisi94F → A: Decreased APP processing by the gamma-secretase complex. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
55851

MalaCards human disease database

More...
MalaCardsi
PSENEN
MIMi613736 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000205155

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79145 Dowling-Degos disease
387 NON RARE IN EUROPE: Hidradenitis suppurativa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA142671122

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NZ42

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2374

Drug and drug target database

More...
DrugBanki
DB05171 E-2012

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PSENEN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
37081820

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001909001 – 101Gamma-secretase subunit PEN-2Add BLAST101

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NZ42

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NZ42

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NZ42

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NZ42

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NZ42

PeptideAtlas

More...
PeptideAtlasi
Q9NZ42

PRoteomics IDEntifications database

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PRIDEi
Q9NZ42

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
83319

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q9NZ42

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZ42

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NZ42

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9NZ42

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000205155 Expressed in 90 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NZ42 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NZ42 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA047435

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The functional gamma-secretase complex is composed of at least four polypeptides: a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PSENEN.

9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120953, 10 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-2176 Gamma-secretase complex, APH1A-PSEN1 variant
CPX-4231 Gamma-secretase complex, APH1A-PSEN2 variant
CPX-4232 Gamma-secretase complex, APH1B-PSEN2 variant
CPX-4233 Gamma-secretase complex, APH1B-PSEN1 variant

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9NZ42

Database of interacting proteins

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DIPi
DIP-36337N

Protein interaction database and analysis system

More...
IntActi
Q9NZ42, 11 interactors

Molecular INTeraction database

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MINTi
Q9NZ42

STRING: functional protein association networks

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STRINGi
9606.ENSP00000468411

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9NZ42

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1101
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9NZ42

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PEN-2 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3402 Eukaryota
ENOG4111W09 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016319

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000006914

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NZ42

KEGG Orthology (KO)

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KOi
K06170

Identification of Orthologs from Complete Genome Data

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OMAi
WFFQEAF

Database of Orthologous Groups

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OrthoDBi
1166960at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZ42

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR019379 Gamma_Secretase_Asp_P_PEN2

The PANTHER Classification System

More...
PANTHERi
PTHR16318 PTHR16318, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10251 PEN-2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9NZ42-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MNLERVSNEE KLNLCRKYYL GGFAFLPFLW LVNIFWFFRE AFLVPAYTEQ
60 70 80 90 100
SQIKGYVWRS AVGFLFWVIV LTSWITIFQI YRPRWGALGD YLSFTIPLGT

P
Length:101
Mass (Da):12,029
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iFDBA4D299488EA02
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ES79K7ES79_HUMAN
Gamma-secretase subunit PEN-2
PSENEN
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF220053 mRNA Translation: AAF67646.1
AK312233 mRNA Translation: BAG35166.1
BC009575 mRNA Translation: AAH09575.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12474.1

NCBI Reference Sequences

More...
RefSeqi
NP_001268461.1, NM_001281532.2
NP_758844.1, NM_172341.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000222266; ENSP00000222266; ENSG00000205155
ENST00000587708; ENSP00000468411; ENSG00000205155

Database of genes from NCBI RefSeq genomes

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GeneIDi
55851

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55851

UCSC genome browser

More...
UCSCi
uc002obi.3 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF220053 mRNA Translation: AAF67646.1
AK312233 mRNA Translation: BAG35166.1
BC009575 mRNA Translation: AAH09575.1
CCDSiCCDS12474.1
RefSeqiNP_001268461.1, NM_001281532.2
NP_758844.1, NM_172341.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5A63electron microscopy3.40D1-101[»]
5FN2electron microscopy4.20D1-101[»]
5FN3electron microscopy4.10D1-101[»]
5FN4electron microscopy4.00D1-101[»]
5FN5electron microscopy4.30D1-101[»]
6IDFelectron microscopy2.70D1-101[»]
6IYCelectron microscopy2.60D1-101[»]
SMRiQ9NZ42
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi120953, 10 interactors
ComplexPortaliCPX-2176 Gamma-secretase complex, APH1A-PSEN1 variant
CPX-4231 Gamma-secretase complex, APH1A-PSEN2 variant
CPX-4232 Gamma-secretase complex, APH1B-PSEN2 variant
CPX-4233 Gamma-secretase complex, APH1B-PSEN1 variant
CORUMiQ9NZ42
DIPiDIP-36337N
IntActiQ9NZ42, 11 interactors
MINTiQ9NZ42
STRINGi9606.ENSP00000468411

Chemistry databases

BindingDBiQ9NZ42
ChEMBLiCHEMBL2374
DrugBankiDB05171 E-2012

PTM databases

iPTMnetiQ9NZ42
PhosphoSitePlusiQ9NZ42
SwissPalmiQ9NZ42

Polymorphism and mutation databases

BioMutaiPSENEN
DMDMi37081820

Proteomic databases

EPDiQ9NZ42
jPOSTiQ9NZ42
MassIVEiQ9NZ42
MaxQBiQ9NZ42
PaxDbiQ9NZ42
PeptideAtlasiQ9NZ42
PRIDEiQ9NZ42
ProteomicsDBi83319
TopDownProteomicsiQ9NZ42

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
55851

Genome annotation databases

EnsembliENST00000222266; ENSP00000222266; ENSG00000205155
ENST00000587708; ENSP00000468411; ENSG00000205155
GeneIDi55851
KEGGihsa:55851
UCSCiuc002obi.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55851
DisGeNETi55851

GeneCards: human genes, protein and diseases

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GeneCardsi
PSENEN
HGNCiHGNC:30100 PSENEN
HPAiHPA047435
MalaCardsiPSENEN
MIMi607632 gene
613736 phenotype
neXtProtiNX_Q9NZ42
OpenTargetsiENSG00000205155
Orphaneti79145 Dowling-Degos disease
387 NON RARE IN EUROPE: Hidradenitis suppurativa
PharmGKBiPA142671122

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3402 Eukaryota
ENOG4111W09 LUCA
GeneTreeiENSGT00390000016319
HOGENOMiHOG000006914
InParanoidiQ9NZ42
KOiK06170
OMAiWFFQEAF
OrthoDBi1166960at2759
PhylomeDBiQ9NZ42

Enzyme and pathway databases

ReactomeiR-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-193692 Regulated proteolysis of p75NTR
R-HSA-205043 NRIF signals cell death from the nucleus
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus
R-HSA-9017802 Noncanonical activation of NOTCH3
R-HSA-977225 Amyloid fiber formation
SignaLinkiQ9NZ42
SIGNORiQ9NZ42

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PSENEN human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55851
PharosiQ9NZ42

Protein Ontology

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PROi
PR:Q9NZ42

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000205155 Expressed in 90 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ9NZ42 baseline and differential
GenevisibleiQ9NZ42 HS

Family and domain databases

InterProiView protein in InterPro
IPR019379 Gamma_Secretase_Asp_P_PEN2
PANTHERiPTHR16318 PTHR16318, 1 hit
PfamiView protein in Pfam
PF10251 PEN-2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPEN2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NZ42
Secondary accession number(s): B2R5L9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: October 1, 2000
Last modified: October 16, 2019
This is version 159 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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