{ "uniprot_canonical_ac": "Q9CQR7-1", "uniprot_ac": "Q9CQR7", "uniprot_id": "PEN2_MOUSE", "mass": { "chemical_mass": 11999.0, "monoisotopic_mass": 11999.0 }, "refseq": { "ac": "NP_079774", "name": "gamma-secretase subunit PEN-2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079774" }, "gene_names": [ { "name": "Psenen", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9CQR7", "id": "Q9CQR7" }, { "name": "1700023M09Rik; Pen-2; Pen2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079774", "id": "NP_079774" }, { "name": "Pen2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9CQR7", "id": "Q9CQR7" }, { "name": "Psenen", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079774", "id": "NP_079774" } ], "protein_names": [ { "name": "Gamma-secretase subunit PEN-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9CQR7" }, { "name": "Presenilin enhancer protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9CQR7" }, { "name": "gamma-secretase subunit PEN-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079774", "id": "NP_079774" }, { "name": "presenilin enhancer protein 2; presenilin enhancer 2 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079774", "id": "NP_079774" } ], "function": [ { "annotation": "Assembly of gamma-secretase occurs through stable dimers after exit from the endoplasmic reticulum.", "evidence": [ { "database": "RefSeq", "id": "NP_079774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079774" }, { "database": "PubMed", "id": "34292306", "url": "https://glygen.org/publication/PubMed/34292306" } ] }, { "annotation": "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:24941111). 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:24941111).", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR7", "url": "https://www.uniprot.org/uniprot/Q9CQR7#function" }, { "database": "PubMed", "id": "24941111", "url": "https://glygen.org/publication/PubMed/24941111" }, { "database": "PubMed", "id": "12522139", "url": "https://glygen.org/publication/PubMed/12522139" } ] }, { "annotation": "Presenilin enhancer 2 is crucial for the transition of apical progenitors into neurons but into not basal progenitors in the developing hippocampus.", "evidence": [ { "database": "RefSeq", "id": "NP_079774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079774" }, { "database": "PubMed", "id": "35575074", "url": "https://glygen.org/publication/PubMed/35575074" } ] } ], "disease": [ { "disease_id": "DOID:2280", "recommended_name": { "id": "DOID:2280", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2280", "name": "hidradenitis suppurativa", "description": "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation." }, "synonyms": [ { "id": "DOID:2280", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2280", "name": "Acne inversa, familial", "description": "" }, { "id": "MONDO:0007728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007728", "name": "acne inversa, familial, 1", "description": "Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene." }, { "id": "MONDO:0007728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007728", "name": "NCSTN familial acne inversa", "description": "" }, { "id": "MONDO:0007728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007728", "name": "acne inversa, familial, 1", "description": "" }, { "id": "MONDO:0007728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007728", "name": "acne inversa, familial, type 1", "description": "" }, { "id": "MONDO:0007728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007728", "name": "familial acne inversa caused by mutation in NCSTN", "description": "" }, { "id": "MONDO:0007728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007728", "name": "ACNINV1", "description": "" }, { "id": "MONDO:0007728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007728", "name": "acne inversa, familial", "description": "" }, { "id": "MONDO:0007728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007728", "name": "hidradenitis 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{ "id": "MONDO:0013397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013397", "name": "ACNINV2", "description": "" }, { "id": "MONDO:0013397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013397", "name": "acne inversa, familial, 2, with or without Dowling-Degos disease", "description": "" }, { "id": "MONDO:0013398", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013398", "name": "acne inversa, familial, 3", "description": "Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene." }, { "id": "MONDO:0013398", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013398", "name": "PSEN1 familial acne inversa", "description": "" }, { "id": "MONDO:0013398", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013398", "name": "acne inversa, familial, 3", "description": "" }, { "id": "MONDO:0013398", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013398", "name": "acne inversa, familial, type 3", "description": "" }, { "id": "MONDO:0013398", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013398", "name": "familial acne inversa caused by mutation in PSEN1", "description": "" }, { "id": "MONDO:0013398", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013398", "name": "ACNINV3", "description": "" }, { "id": "MIM:142690", "resource": "MIM", "url": "https://www.omim.org/entry/142690", "name": "Acne inversa, familial, 1", "description": "Acne inversa, familial, 1" }, { "id": "MIM:613736", "resource": "MIM", "url": "https://www.omim.org/entry/613736", "name": "Acne inversa, familial, 2, with or without Dowling-Degos disease", "description": "Acne inversa, familial, 2, with or without Dowling-Degos disease" }, { "id": "MIM:613737", "resource": "MIM", "url": "https://www.omim.org/entry/613737", "name": "Acne inversa, familial, 3", "description": "Acne inversa, familial, 3" } ], "evidence": [ { "id": "2280", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2280" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQR7", "url": "https://www.uniprot.org/uniprot/Q9CQR7" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Psenen", "url": "https://www.uniprot.org/uniprot/Q9CQR7", "locus": { "chromosome": "7", "start_pos": 30261288, "end_pos": 30263052, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000036835", "url": "https://www.ensembl.org/id/ENSMUSG00000036835" } ] } } ], "crossref": [ { "id": "ENSMUSG00000036835", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000036835", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "66340", "url": 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16318", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR16318:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16318:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF10251", "url": "http://pfam.xfam.org/family/PF10251", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9CQR7", "url": "http://purl.obolibrary.org/obo/PR_Q9CQR7", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-1251985", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-1251985", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-193692", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-193692", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-205043", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-205043", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-3928665", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-3928665", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-9013507", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-9017802", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-9017802", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_079774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079774", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A140LHM2", "url": "https://www.uniprot.org/uniprot/A0A140LHM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LHM2-1", "url": "https://www.uniprot.org/uniprot/A0A140LHM2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LHQ1", "url": "https://www.uniprot.org/uniprot/A0A140LHQ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LHQ1-1", "url": "https://www.uniprot.org/uniprot/A0A140LHQ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LJC5", "url": "https://www.uniprot.org/uniprot/A0A140LJC5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LJC5-1", "url": "https://www.uniprot.org/uniprot/A0A140LJC5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9CQR7", "url": "https://www.uniprot.org/uniprot/Q9CQR7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9CQR7-1", "url": "https://www.uniprot.org/uniprot/Q9CQR7-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLAPAYTEQSQIKGYVWRSAVGFLFWVIILATWITIFQIYRPRWGALGDYLSFTIPLGTP", "length": 101, "header": "sp|Q9CQR7-1|PEN2_MOUSE Isoform 1 of Gamma-secretase subunit PEN-2 OS=Mus musculus OX=10090 GN=Psenen PE=1 SV=1 CANONICAL=Q9CQR7-1" }, "isoforms": [ { "isoform_ac": "A0A140LHM2-1", "url": "", "sequence": { "sequence": "MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLAPAYTEQSQIKGYVWRSAVGFLFWVIILATWITIFQIYRPRWGALGDYLSFT", "length": 95, "header": "tr|A0A140LHM2-1|PEN2_MOUSE Computationally mapped isoform of Gamma-secretase subunit PEN-2 OS=Mus musculus OX=10090 GN=Psenen PE=1 SV=1 CANONICAL=Q9CQR7-1" }, "locus": { "chromosome": "7", "start_pos": 30262281, "end_pos": 30261441, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000208628.2", "url": "https://www.ensembl.org/id/ENSMUST00000208628.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000146469.2", "url": "https://www.ensembl.org/id/ENSMUSP00000146469.2" } ] } }, { "isoform_ac": "A0A140LHQ1-1", "url": "", "sequence": { "sequence": "MNLERVSNEEKLNLCRKYYLDVWRSAVGFLFWVIILATWITIFQIYRPRWGALGDYLSFTIPLGTP", "length": 66, "header": "tr|A0A140LHQ1-1|A0A140LHQ1_MOUSE Computationally mapped isoform of Gamma-secretase subunit PEN-2 OS=Mus musculus OX=10090 GN=Psenen PE=1 SV=1 CANONICAL=Q9CQR7-1" }, "locus": { "chromosome": "7", "start_pos": 30262281, "end_pos": 30261423, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000207031.2", "url": "https://www.ensembl.org/id/ENSMUST00000207031.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000146499.2", "url": "https://www.ensembl.org/id/ENSMUSP00000146499.2" } ] } }, { "isoform_ac": "A0A140LJC5-1", "url": "", "sequence": { "sequence": "MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREA", "length": 41, "header": "tr|A0A140LJC5-1|A0A140LJC5_MOUSE Computationally mapped isoform of Gamma-secretase subunit PEN-2 OS=Mus musculus OX=10090 GN=Psenen PE=1 SV=1 CANONICAL=Q9CQR7-1" }, "locus": { "chromosome": "7", "start_pos": 30262281, "end_pos": 30261792, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000207797.2", "url": "https://www.ensembl.org/id/ENSMUST00000207797.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000147160.2", "url": "https://www.ensembl.org/id/ENSMUSP00000147160.2" } ] } }, { "isoform_ac": "Q9CQR7-1", "url": "", "sequence": { "sequence": "MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLAPAYTEQSQIKGYVWRSAVGFLFWVIILATWITIFQIYRPRWGALGDYLSFTIPLGTP", "length": 101, "header": "sp|Q9CQR7-1|PEN2_MOUSE Isoform 1 of Gamma-secretase subunit PEN-2 OS=Mus musculus OX=10090 GN=Psenen PE=1 SV=1 CANONICAL=Q9CQR7-1" }, "locus": { "chromosome": "7", "start_pos": 30262281, "end_pos": 30261423, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000043898", "url": "https://www.ensembl.org/id/ENSMUST00000043898" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000044682", "url": "https://www.ensembl.org/id/ENSMUSP00000044682" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Luo WJ, Wang H, Li H, Kim BS, Shah S, Lee HJ, Thinakaran G, Kim TW, Yu G, Xu H", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR7", "url": "https://www.uniprot.org/uniprot/Q9CQR7" } ], "reference": [ { "type": "PubMed", "id": "12522139", "url": "https://glygen.org/publication/PubMed/12522139" } ] }, { "title": "Pen-2 is essential for gamma-secretase complex stability and trafficking but partially dispensable for endoproteolysis.", "journal": "Biochemistry", "date": "2014", "authors": "Holmes O, Paturi S, Selkoe DJ, Wolfe MS", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR7", "url": "https://www.uniprot.org/uniprot/Q9CQR7" } ], "reference": [ { "type": "PubMed", "id": "24941111", "url": "https://glygen.org/publication/PubMed/24941111" } ] }, { "title": "Assembly of gamma-secretase occurs through stable dimers after exit from the endoplasmic reticulum.", "journal": "The Journal of cell biology", "date": "2021", "authors": "Wouters R, Michiels C, Sannerud R, Kleizen B, Dillen K, Vermeire W, Ayala AE, Demedts D, Schekman R, Annaert W", "evidence": [ { "database": "RefSeq", "id": "NP_079774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079774" } ], "reference": [ { "type": "PubMed", "id": "34292306", "url": "https://glygen.org/publication/PubMed/34292306" } ] }, { "title": "Presenilin enhancer 2 is crucial for the transition of apical progenitors into neurons but into not basal progenitors in the developing hippocampus.", "journal": "Development (Cambridge, England)", "date": "2022", "authors": "Xia Y, Zhang Y, Xu M, Zou X, Gao J, Ji MH, Chen G", "evidence": [ { "database": "RefSeq", "id": "NP_079774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079774" } ], "reference": [ { "type": "PubMed", "id": "35575074", "url": "https://glygen.org/publication/PubMed/35575074" } ] } ], "pathway": [ { "id": "mmu:66340", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:66340", "resource": "KEGG 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