{ "uniprot_canonical_ac": "Q9VQ62-1", "uniprot_ac": "Q9VQ62", "uniprot_id": "NPC2_DROME", "mass": { "chemical_mass": 16021.0, "monoisotopic_mass": 16021.0 }, "refseq": { "ac": "NP_608637", "name": "Niemann-Pick type C-2a", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_608637" }, "gene_names": [ { "name": "Npc2a", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9VQ62", "id": "Q9VQ62" }, { "name": "BcDNA:GH22047; BcDNA:RH53228; BEST:GH08376; CG7291; CT22505; Dmel\\CG7291; DmML3; dnpc2a; NPC2; npc2a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_608637", "id": "NP_608637" }, { "name": "CG7291", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VQ62", "id": "Q9VQ62" }, { "name": "NPC2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VQ62", "id": "Q9VQ62" }, { "name": "Npc2a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_608637", "id": "NP_608637" } ], "protein_names": [ { "name": "NPC intracellular cholesterol transporter 2 homolog a", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9VQ62" }, { "name": "CG7291-PA; Npc2a-PA; epididymal secretory protein; Niemann-Pick type C-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_608637", "id": "NP_608637" }, { "name": "Niemann Pick type C2 protein homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VQ62" }, { "name": "Niemann-Pick type C-2a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_608637", "id": "NP_608637" } ], "function": [ { "annotation": "Functions redundantly with Npc2b in regulating sterol homeostasis and ecdysteroid biosynthesis, probably by controlling the availability of sterol substrate.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62#function" }, { "database": "PubMed", "id": "17804599", "url": "https://glygen.org/publication/PubMed/17804599" } ] } ], "disease": [ { "disease_id": "DOID:0070114", "recommended_name": { "id": "DOID:0070114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070114", "name": "Niemann-Pick disease type C2", "description": "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0070114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070114", "name": "NPC2", "description": "" }, { "id": "MONDO:0011873", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011873", "name": "Niemann-Pick disease, type C2", "description": "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person." }, { "id": "MONDO:0011873", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011873", "name": "NPC2", "description": "" }, { "id": "MONDO:0011873", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011873", "name": "Niemann-Pick disease, type C2", "description": "" }, { "id": "MONDO:0011873", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011873", "name": "type C2 Niemann-Pick disease", "description": "" }, { "id": "MONDO:0011873", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011873", "name": "Niemann-PICK disease, type C2", "description": "" }, { "id": "MONDO:0011873", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011873", "name": "Niemann-Pick disease type C2", "description": "" }, { "id": "MIM:607625", "resource": "MIM", "url": "https://www.omim.org/entry/607625", "name": "Niemann-Pick disease C2", "description": "Niemann-Pick disease C2" } ], "evidence": [ { "id": "0070114", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070114" } ] }, { "disease_id": "DOID:14504", "recommended_name": { "id": "DOID:14504", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14504", "name": "Niemann-Pick disease", "description": "A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells." }, "synonyms": [ { "id": "DOID:14504", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14504", "name": "Sphingomyelinase Deficiency Disease", "description": "" }, { "id": "DOID:14504", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14504", "name": "lipoid histiocytosis", "description": "" }, { "id": "DOID:14504", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14504", "name": "sphingomyelin lipidosis", "description": "" } ], "evidence": [ { "id": "14504", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14504" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Npc2a", "url": "https://www.uniprot.org/uniprot/Q9VQ62", "locus": { "chromosome": "2L", "start_pos": 1988940, "end_pos": 1988290, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0031381", "url": "https://www.ensembl.org/id/FBgn0031381" } ] } } ], "crossref": [ { "id": "FBgn0031381", "url": "https://bgee.org/?page=gene&gene_id=FBgn0031381", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00916", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00916", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0031381", "url": "https://flybase.org/reports/FBgn0031381", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "33374", "url": "https://www.ncbi.nlm.nih.gov/gene/33374", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q9VQ62", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9VQ62*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003172", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003172", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014756", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014756", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033916", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033916", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039670", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039670", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG7291", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG7291", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "VDIVCVE", "url": "https://omabrowser.org/oma/group/VDIVCVE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2545683at2759", "url": "http://www.orthodb.org/?query=2545683at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11306", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11306", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11306:SF56", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11306:SF56", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02221", "url": "http://pfam.xfam.org/family/PF02221", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9VQ62", "url": "http://purl.obolibrary.org/obo/PR_Q9VQ62", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_608637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_608637", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VQ62-1", "url": "https://www.uniprot.org/uniprot/Q9VQ62-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLRYAVIACAALVVFAGALEFSDCGSKTGKFTRVAIEGCDTTKAECILKRNTTVSFSIDFALAEEATAVKTVVHGKVLGIEMPFPLANPDACVDSGLKCPLEKDESYRYTATLPVLRSYPKVSVLVKWELQDQDGADIICVEIPAKIQ", "length": 148, "header": "sp|Q9VQ62-1|NPC2_DROME Isoform 1 of NPC intracellular cholesterol transporter 2 homolog a OS=Drosophila melanogaster OX=7227 GN=Npc2a PE=2 SV=1 CANONICAL=Q9VQ62-1" }, "isoforms": [ { "isoform_ac": "Q9VQ62-1", "url": "", "sequence": { "sequence": "MLRYAVIACAALVVFAGALEFSDCGSKTGKFTRVAIEGCDTTKAECILKRNTTVSFSIDFALAEEATAVKTVVHGKVLGIEMPFPLANPDACVDSGLKCPLEKDESYRYTATLPVLRSYPKVSVLVKWELQDQDGADIICVEIPAKIQ", "length": 148, "header": "sp|Q9VQ62-1|NPC2_DROME Isoform 1 of NPC intracellular cholesterol transporter 2 homolog a OS=Drosophila melanogaster OX=7227 GN=Npc2a PE=2 SV=1 CANONICAL=Q9VQ62-1" }, "locus": { "chromosome": "2L", "start_pos": 1988832, "end_pos": 1988389, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0077816", "url": "https://www.ensembl.org/id/FBtr0077816" }, { "database": "Ensembl Peptide", "id": "FBpp0077492", "url": "https://www.ensembl.org/id/FBpp0077492" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 51, "start_aa": "Asn", "end_pos": 51, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn51", "evidence": [ { "id": "Q9VQ62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VQ62#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "A Drosophila full-length cDNA resource.", "journal": "Genome Biol.", "date": "2002", "authors": "Stapleton M, Carlson J, Brokstein P, Yu C, Champe M, George R, Guarin H, Kronmiller B, Pacleb J, Park S, Wan K, Rubin GM, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "reference": [ { "type": "PubMed", "id": "12537569", "url": "https://glygen.org/publication/PubMed/12537569" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "Drosophila Niemann-Pick type C-2 genes control sterol homeostasis and steroid biosynthesis: a model of human neurodegenerative disease.", "journal": "Development", "date": "2007", "authors": "Huang X., Warren J.T., Scott M.P., Buchanan J., Gilbert L.I.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "reference": [ { "type": "PubMed", "id": "17804599", "url": "https://glygen.org/publication/PubMed/17804599" } ] } ], "pathway": [ { "id": "dme:Dmel_CG7291", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG7291", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9Z0J0-1", "protein_name": "NPC intracellular cholesterol transporter 2", "gene_name": "Npc2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRFLAATILLLALVAASQAEPLHFKDCGSKVGVIKEVNVSPCPTDPCQLHKGQSYSVNITFTSGTQSQNSTALVHGILEGIRVPFPIPEPDGCKSGINCPIQKDKVYSYLNKLPVKNEYPSIKLVVEWKLEDDKKNNLFCWEIPVQITS", "length": 149 }, "evidence": [ { "id": "Q9VQ62", "url": "https://omabrowser.org/oma/group/Q9VQ62/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "peptidoglycan binding", "id": "GO:0042834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042834", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "sterol binding", "id": "GO:0032934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032934", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "lipoteichoic acid binding", "id": "GO:0070891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070891", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "lipid antigen binding", "id": "GO:0030882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030882", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "intracellular cholesterol transport", "id": "GO:0032367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032367", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "positive regulation of defense response to bacterium", "id": "GO:1900426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900426", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "sterol transport", "id": "GO:0015918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015918", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "sterol homeostasis", "id": "GO:0055092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055092", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "synaptic target recognition", "id": "GO:0008039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008039", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" }, { "name": "ecdysteroid biosynthetic process", "id": "GO:0045456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045456", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ62", "url": "https://www.uniprot.org/uniprot/Q9VQ62" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 51, "end_pos": 53, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { 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