{ "uniprot_canonical_ac": "P0DPK3-1", "uniprot_ac": "P0DPK3", "uniprot_id": "NT2NB_HUMAN", "mass": { "chemical_mass": 30097.0, "monoisotopic_mass": 30097.0 }, "refseq": {}, "gene_names": [ { "name": "NOTCH2NLB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DPK3", "id": "P0DPK3" } ], "protein_names": [ { "name": "Notch homolog 2 N-terminal-like protein B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DPK3" } ], "function": [ { "annotation": "Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954, PubMed:29856955). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954, PubMed:29856955). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (PubMed:29856955).", "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3#function" }, { "database": "PubMed", "id": "29856955", "url": "https://glygen.org/publication/PubMed/29856955" }, { "database": "PubMed", "id": "29856954", "url": "https://glygen.org/publication/PubMed/29856954" }, { "database": "PubMed", "id": "29561261", "url": "https://glygen.org/publication/PubMed/29561261" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3" } ], "common_name": "Human" } ], "gene": [ { "name": "NOTCH2NLB", "url": "https://www.uniprot.org/uniprot/P0DPK3", "locus": { "chromosome": "1", "start_pos": 148600285, "end_pos": 148679746, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000286019", "url": "https://www.ensembl.org/id/ENSG00000286019" } ] } } ], "crossref": [ { "id": "ENSG00000286019", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000286019", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "NOTCH2NLB", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NLB", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "53923", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=53923", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR000152", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000152", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001881", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001881", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018097", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018097", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "NX_P0DPK3", "url": "https://www.nextprot.org/entry/NX_P0DPK3", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "INECHAN", "url": "https://omabrowser.org/oma/group/INECHAN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "101939at2759", "url": "http://www.orthodb.org/?query=101939at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24049", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24049", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24049:SF22", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24049:SF22", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00008", "url": "http://pfam.xfam.org/family/PF00008", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07645", "url": "http://pfam.xfam.org/family/PF07645", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P0DPK3", "url": "http://purl.obolibrary.org/obo/PR_P0DPK3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DPK3-1", "url": "https://www.uniprot.org/uniprot/P0DPK3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DPK3-2", "url": "https://www.uniprot.org/uniprot/P0DPK3-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPALRPALLWALLALWLCCATPAHALQCRDGYEPCVNEGMCVTYHNGTGYCKCPEGFLGEYCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETDVNECDIPGHCQHGGICLNLPGSYQCQCLQGFTGQYCDSLYVPCAPSPCVNGGTCRQTGDFTFECNCLPETVRRGTELWERDREVWNGKEHDEN", "length": 275, "header": "sp|P0DPK3-1|NT2NB_HUMAN Isoform 1 of Notch homolog 2 N-terminal-like protein B OS=Homo sapiens OX=9606 GN=NOTCH2NLB PE=1 SV=1 CANONICAL=P0DPK3-1" }, "isoforms": [ { "isoform_ac": "P0DPK3-1", "url": "", "sequence": { "sequence": "MPALRPALLWALLALWLCCATPAHALQCRDGYEPCVNEGMCVTYHNGTGYCKCPEGFLGEYCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETDVNECDIPGHCQHGGICLNLPGSYQCQCLQGFTGQYCDSLYVPCAPSPCVNGGTCRQTGDFTFECNCLPETVRRGTELWERDREVWNGKEHDEN", "length": 275, "header": "sp|P0DPK3-1|NT2NB_HUMAN Isoform 1 of Notch homolog 2 N-terminal-like protein B OS=Homo sapiens OX=9606 GN=NOTCH2NLB PE=1 SV=1 CANONICAL=P0DPK3-1" }, "locus": {} }, { "isoform_ac": "P0DPK3-2", "url": "", "sequence": { "sequence": "MCRDGYEPCVNEGMCVTYHNGTGYCKCPEGFLGEYCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETDVNECDIPGHCQHGGICLNLPGSYQCQCLQGFTGQYCDSLYVPCAPSPCVNGGTCRQTGDFTFECNCLPETVRRGTELWERDREVWNGKEHDEN", "length": 249, "header": "sp|P0DPK3-2|NT2NB_HUMAN Isoform 2 of Notch homolog 2 N-terminal-like protein B OS=Homo sapiens OX=9606 GN=NOTCH2NLB PE=1 SV=1 CANONICAL=P0DPK3-1" }, "locus": { "chromosome": "1", "start_pos": 148679464, "end_pos": 148607086, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000593495.4", "url": "https://www.ensembl.org/id/ENST00000593495.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000472124.1", "url": "https://www.ensembl.org/id/ENSP00000472124.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 155, "start_aa": "Asn", "end_pos": 155, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn155", "evidence": [ { "id": "P0DPK3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPK3#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 46, "start_aa": "Asn", "end_pos": 46, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn46", "evidence": [ { "id": "P0DPK3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPK3#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex.", "journal": "eLife", "date": "2018", "authors": "Florio M, Heide M, Pinson A, Brandl H, Albert M, Winkler S, Wimberger P, Huttner WB, Hiller M", "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3" } ], "reference": [ { "type": "PubMed", "id": "29561261", "url": "https://glygen.org/publication/PubMed/29561261" } ] }, { "title": "Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.", "journal": "Cell", "date": "2018", "authors": "Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, Novak AM, van den Bout A, Bishara A, Rosenkrantz JL, Lorig-Roach R, Field AR, Haeussler M, Russo L, Bhaduri A, Nowakowski TJ, Pollen AA, Dougherty ML, Nuttle X, Addor MC, Zwolinski S, Katzman S, Kriegstein A, Eichler EE, Salama SR, Jacobs FMJ, Haussler D", "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3" } ], "reference": [ { "type": "PubMed", "id": "29856954", "url": "https://glygen.org/publication/PubMed/29856954" } ] }, { "title": "Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation.", "journal": "Cell", "date": "2018", "authors": "Suzuki IK, Gacquer D, Van Heurck R, Kumar D, Wojno M, Bilheu A, Herpoel A, Lambert N, Cheron J, Polleux F, Detours V, Vanderhaeghen P", "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3" } ], "reference": [ { "type": "PubMed", "id": "29856955", "url": "https://glygen.org/publication/PubMed/29856955" } ] } ], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3" } ], "pmid": "" }, { "name": "Notch binding", "id": "GO:0005112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005112", "evidence": [ { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 155, "end_pos": 157, "annotation": "n_glycosylation_sequon" }, { "start_pos": 46, "end_pos": 48, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "sequence_features": { "n_linked_sites": [ 46, 155 ], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 155, "end_pos": 157 }, { "start_pos": 46, "end_pos": 48 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }