{ "uniprot_canonical_ac": "A6NCE7-1", "ptm_annotation": [ { "annotation": "The precursor molecule is cleaved by APG4B/ATG4B to form LC3-I. This is activated by APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form LC3-II.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A6NCE7-1|MP3B2_HUMAN Isoform 1 of Microtubule-associated proteins 1A/1B light chain 3 beta 2 OS=Homo sapiens OX=9606 GN=MAP1LC3B2 PE=2 SV=1 CANONICAL=A6NCE7-1", "length": 125, "sequence": "MPSEKTFKQRRTFEQRVEDVRLIREQHPTKIPVIIERYKGEKQLPVLDKTKFLVPDHVNMSELIKIIRRRLQLNANQAFFLLVNGHSMVSVSTPISEVYESEKDEDGFLYMVCASQETFGMKLSV" }, "uniprot_id": "MP3B2_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "man", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [], "uniprot_ac": "A6NCE7", "site_annotation": [ { "end_pos": 61, "annotation": "n_glycosylation_sequon", "start_pos": 59 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7#A6NCE7-1", "isoform_ac": "A6NCE7-1", "locus": { "end_pos": 116575943, "start_pos": 116576317, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000556529", "id": "ENST00000556529", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000450524", "id": "ENSP00000450524", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6NCE7-1|MP3B2_HUMAN Isoform 1 of Microtubule-associated proteins 1A/1B light chain 3 beta 2 OS=Homo sapiens OX=9606 GN=MAP1LC3B2 PE=2 SV=1 CANONICAL=A6NCE7-1", "length": 125, "sequence": "MPSEKTFKQRRTFEQRVEDVRLIREQHPTKIPVIIERYKGEKQLPVLDKTKFLVPDHVNMSELIKIIRRRLQLNANQAFFLLVNGHSMVSVSTPISEVYESEKDEDGFLYMVCASQETFGMKLSV" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:643246", "resource": "KEGG Pathway", "id": "hsa:643246", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7#function", "annotation": "Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7#function", "id": "A6NCE7", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K9Q7-1", "protein_name": "Uncharacterized protein", "sequence": { "length": 125, "sequence": "TPSEKTFKQRRSFEQRVEDVRLIREQHPTKIPVIIERYKGEKQLPVLDKTKFLVPDHVNMSELIKIIRRRLQLNANQAFFLLVNGHSMVSVSTPISEGYESERDEDGFLYMVYASQETFGTALAV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A6NCE7/", "id": "A6NCE7", "database": "OMA" } ], "common_name": "rats", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "C", "start_pos": 113, "alt_nt": "A", "chr_id": "12", "ref_nt": "G", "chr_pos": "117014085", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCE7", "id": "A6NCE7", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 113, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 37, "alt_nt": "A", "chr_id": "12", "ref_nt": "G", "chr_pos": "117013857", "disease": [ { "synonyms": [ { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCE7", "id": "A6NCE7", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "Q", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 37, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 10, "alt_nt": "A", "chr_id": "12", "ref_nt": "G", "chr_pos": "117013776", "disease": [ { "synonyms": [ { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCE7", "id": "A6NCE7", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "Q", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 10, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078950.1", "ac": "NP_001078950.1", "name": "microtubule-associated proteins 1A/1B light chain 3 beta 2 precursor", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "microtubule binding", "id": "GO:0008017" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "ubiquitin protein ligase binding", "id": "GO:0031625" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "autophagosome membrane", "id": "GO:0000421" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "autophagosome", "id": "GO:0005776" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "microtubule", "id": "GO:0005874" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "endomembrane system", "id": "GO:0012505" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "cytoplasmic vesicle", "id": "GO:0031410" } ], "total": 6, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "autophagosome assembly", "id": "GO:0000045" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "autophagy of mitochondrion", "id": "GO:0000422" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "autophagosome maturation", "id": "GO:0097352" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "macroautophagy", "id": "GO:0016236" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006995", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "id": "A6NCE7", "database": "UniProtKB" } ], "name": "cellular response to nitrogen starvation", "id": "GO:0006995" } ], "total": 5, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A6NCE7", "type": "recommended", "resource": "UniProtKB", "name": "MAP1LC3B2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NCE7", "type": "synonym", "resource": "RefSeq", "name": "ATG8G" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NCE7", "type": "synonym", "resource": "RefSeq", "name": "MAP1LC3B2" } ], "crossref": [ { "url": "https://www.nextprot.org/entry/NX_A6NCE7", "id": "NX_A6NCE7", "database": "neXtProt" }, { "url": "http://www.orthodb.org/?query=1508198at2759", "id": "1508198at2759", "database": "OrthoDB" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029071", "id": "IPR029071", "database": "InterPro" }, { "url": "https://pharos.nih.gov/targets/A6NCE7", "id": "A6NCE7", "database": "PHAROS" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:643246", "id": "hsa:643246", "database": "KEGG Pathway" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A6NCE7", "id": "PR_A6NCE7", "database": "PRO" }, { "url": "http://pfam.xfam.org/family/PF02991", "id": "PF02991", "database": "Pfam" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078950.1", "id": "NP_001078950.1", "database": "RefSeq" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A6NCE7*", "id": "A6NCE7", "database": "IntAct" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP1LC3B2", "id": "MAP1LC3B2", "database": "GeneCards" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=34390", "id": "34390", "database": "HGNC" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCE7", "id": "A6NCE7", "database": "BioMuta" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000258102", "id": "ENSG00000258102", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/643246", "id": "643246", "database": "GeneID" }, { "url": "https://omabrowser.org/oma/group/CLENLAC/", "id": "CLENLAC", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR004241", "id": "IPR004241", "database": "InterPro" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10969", "id": "PTHR10969", "database": "PANTHER" } ], "expression_disease": [ { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NCE7", "id": "A6NCE7", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", 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