{ "uniprot_canonical_ac": "A1L4L8-1", "ptm_annotation": [], "sequence": { "header": "sp|A1L4L8-1|PL8L1_HUMAN Isoform 1 of PLAC8-like protein 1 OS=Homo sapiens OX=9606 GN=PLAC8L1 PE=2 SV=1 CANONICAL=A1L4L8-1", "length": 177, "sequence": "MNWFGSNFFRCPEDLSLLNIYSPLLSHMSSEDEHFISNLRGHVPASAVVKQPVRGASGRTTITAIVQTGGGWSTGLFSVCRDRRICFCGLFCPMCLECDIARHYGECLCWPLLPGSTFALRIGTRERHKIQGTLCEDWLAVHCCWAFSICQVARELKMRTSQVYEICAVPMTKDTLV" }, "uniprot_id": "PL8L1_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4L8", "id": "A1L4L8", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20855956", "type": [ "PubMed" ], "id": "20855956" } ], "title": "Evolution of FW2.2-like (FWL) and PLAC8 genes in eukaryotes.", "journal": "Plant signaling & behavior", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025040.1", "id": "NP_001025040.1", "database": "RefSeq" } ], "authors": "Libault M, Stacey G", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21347707", "type": [ "PubMed" ], "id": "21347707" } ], "title": "Common functions or only phylogenetically related? The large family of PLAC8 motif-containing/PCR genes.", "journal": "Molecules and cells", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025040.1", "id": "NP_001025040.1", "database": "RefSeq" } ], "authors": "Song WY, Hortensteiner S, Tomioka R, Lee Y, Martinoia E", "date": "2011" } ], "uniprot_ac": "A1L4L8", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1L4L8#A1L4L8-1", "isoform_ac": "A1L4L8-1", "locus": { "end_pos": 146084435, "strand": "+", "start_pos": 146104311, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000311450", "id": "ENST00000311450", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000309087", "id": "ENSP00000309087", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L4L8-1|PL8L1_HUMAN Isoform 1 of PLAC8-like protein 1 OS=Homo sapiens OX=9606 GN=PLAC8L1 PE=2 SV=1 CANONICAL=A1L4L8-1", "length": 177, "sequence": "MNWFGSNFFRCPEDLSLLNIYSPLLSHMSSEDEHFISNLRGHVPASAVVKQPVRGASGRTTITAIVQTGGGWSTGLFSVCRDRRICFCGLFCPMCLECDIARHYGECLCWPLLPGSTFALRIGTRERHKIQGTLCEDWLAVHCCWAFSICQVARELKMRTSQVYEICAVPMTKDTLV" } }, { "url": "https://www.uniprot.org/uniprot/A1L4L8#D6RBV4-1", "isoform_ac": "D6RBV4-1", "locus": { "end_pos": 146085561, "strand": "+", "start_pos": 146104311, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000512998", "id": "ENST00000512998", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000423992", "id": "ENSP00000423992", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D6RBV4-1|PL8L1_HUMAN Computationally mapped isoform of PLAC8-like protein 1 OS=Homo sapiens OX=9606 GN=PLAC8L1 PE=2 SV=1 CANONICAL=A1L4L8-1", "length": 86, "sequence": "MNWFGSNFFRCPEDLSLLNIYSPLLSHMSSEDEHFISNLRGHVPASAVVKQPVRGASGRTTITAIVQTGGGWSTGLFSVCRDRRIL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:153770", "resource": "KEGG Pathway", "id": "hsa:153770", "name": "" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "D3ZTM1-1", "protein_name": "PLAC8-like 1", "sequence": { "length": 177, "sequence": "MSWLGHHFSRWCEDISLLSTHIPLFSPMPSEDEHLISDLRSHVPACVVVKQPIRGASGRTTVTAIVQTGGDWSTGLFSVCRDRKICFWGLFCPMCLECDIARHYGECLCWPLLPGSSFALRIGTRERHKIQGTLCEDWVVVHCCWPFSICQVARELKMRTSQLYEICEVPELKDTLV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1L4L8/", "id": "A1L4L8", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/45879", "id": "45879", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Plac8l1", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q08EJ0-1", "protein_name": "PLAC8-like protein 1", "sequence": { "length": 177, "sequence": "MSWMGHHFSRWCKDISVLSSHLPLFSPMPSEDEHLISNLRSHVPARVVVKQPIRGAIGRTTVAAIVQTGGDWSTGLFSVCRDRKICFWGLLCPMCLECDIARHYGECLCWPLLPGSTFALRIGTRERHRIQGTLCEDCVVVHCCWPFSICQVARELKMRTSQLYEICEVPELKNTLV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A1L4L8/", "id": "A1L4L8", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/45879", "id": "45879", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Plac8l1", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "C", "start_pos": 11, "alt_nt": "T", "chr_id": "5", "ref_nt": "A", "chr_pos": "145483844", "disease": [ { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4L8", "id": "A1L4L8", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 11, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "E", "start_pos": 13, "alt_nt": "A", "chr_id": "5", "ref_nt": "C", "chr_pos": "145483838", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4L8", "id": "A1L4L8", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.0", "sequence_mut": "*", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "end_pos": 13, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025040.1", "ac": "NP_001025040.1", "name": "PLAC8-like protein 1", "summary": "" }, "go_annotation": {}, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1L4L8", "type": "synonym", "resource": "RefSeq", "name": "PLAC8L1" }, { "url": "https://www.uniprot.org/uniprot/A1L4L8", "type": "recommended", "resource": "UniProtKB", "name": "PLAC8L1" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173261", "id": "ENSG00000173261", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4L8", "id": "A1L4L8", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAC8L1", "id": "PLAC8L1", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/153770", "id": "153770", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=31746", "id": "31746", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A1L4L8*", "id": "A1L4L8", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR006461", "id": "IPR006461", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:153770", "id": "hsa:153770", "database": "KEGG Pathway" }, { "url": "https://www.nextprot.org/entry/NX_A1L4L8", "id": "NX_A1L4L8", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/RSHAPAQ/", "id": "RSHAPAQ", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1354725at2759", "id": "1354725at2759", "database": "OrthoDB" }, { "url": 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prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L4L8", "id": "A1L4L8", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": 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"http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": 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