{ "uniprot_canonical_ac": "A1L170-1", "ptm_annotation": [], "sequence": { "header": "sp|A1L170-1|CA226_HUMAN Isoform 1 of Uncharacterized protein C1orf226 OS=Homo sapiens OX=9606 GN=C1orf226 PE=1 SV=1 CANONICAL=A1L170-1", "length": 272, "sequence": "MFENLNTALTPKLQASRSFPHLSKPVAPGSAPLGSGEPGGPGLWVGSSQHLKNLGKAMGAKVNDFLRRKEPSSLGSVGVTEINKTAGAQLASGTDAAPEAWLEDERSVLQETFPRLDPPPPITRKRTPRALKTTQDMLISSQPVLSSLEYGTEPSPGQAQDSAPTAQPDVPADASQPEATMEREERGKVLPNGEVSLSVPDLIHKDSQDESKLKMTECRRASSPSLIERNGFKLSLSPISLAESWEDGSPPPQARTSSLDNEGPHPDLLSFE" }, "uniprot_id": "CA226_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "taxid": 9606, "name": "Homo sapiens", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L170", "id": "A1L170", "database": "UniProtKB" } ] } ], "crossref_internal": { "gene": [ "C1orf226" ], "species": [ 9606 ], "disease": [ "DOID:11054", "DOID:2394", "DOID:1781", "DOID:10283", "DOID:3910", "DOID:3571", "DOID:3907", "DOID:5041" ], "site": [ "A1L170-1.96.96", "A1L170-1.249.249", "A1L170-1.223.223", "A1L170-1.135.135", "A1L170-1.83.85", "A1L170-1.258.258", "A1L170-1.222.222", "A1L170-1.103.103" ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18220336", "type": [ "PubMed" ], "id": "18220336" } ], "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "J. Proteome Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L170", "id": "A1L170", "database": "UniProtKB" } ], "authors": "Cantin G.T., Lee J.-D., Lu B., Park S.K., Xu T., Yates J.R. III, Yi W., Yates J.R., Lee J.D.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18691976", "type": [ "PubMed" ], "id": "18691976" } ], "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Mol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L170", "id": "A1L170", "database": "UniProtKB" } ], "authors": "Bairlein M., Daub H., Gnad F., Greff Z., Keri G., Korner R., Mann M., Olsen J.V., Oppermann F.S., Stemmann O.", "date": "2008" } ], "uniprot_ac": "A1L170", "site_annotation": [ { "end_pos": 85, "annotation": "n_glycosylation_sequon", "start_pos": 83 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1L170#A1L170-1", "isoform_ac": "A1L170-1", "sequence": { "header": "sp|A1L170-1|CA226_HUMAN Isoform 1 of Uncharacterized protein C1orf226 OS=Homo sapiens OX=9606 GN=C1orf226 PE=1 SV=1 CANONICAL=A1L170-1", "length": 272, "sequence": "MFENLNTALTPKLQASRSFPHLSKPVAPGSAPLGSGEPGGPGLWVGSSQHLKNLGKAMGAKVNDFLRRKEPSSLGSVGVTEINKTAGAQLASGTDAAPEAWLEDERSVLQETFPRLDPPPPITRKRTPRALKTTQDMLISSQPVLSSLEYGTEPSPGQAQDSAPTAQPDVPADASQPEATMEREERGKVLPNGEVSLSVPDLIHKDSQDESKLKMTECRRASSPSLIERNGFKLSLSPISLAESWEDGSPPPQARTSSLDNEGPHPDLLSFE" }, "locus": { "chromosome": "1", "end_pos": 162381902, "start_pos": 162383680, "strand": "-", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000458626", "id": "ENST00000458626", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000437071", "id": "ENSP00000437071", "database": "Ensembl Peptide" } ] } }, { "url": "https://www.uniprot.org/uniprot/A1L170#A1L170-2", "isoform_ac": "A1L170-2", "sequence": { "header": "sp|A1L170-2|CA226_HUMAN Isoform 2 of Uncharacterized protein C1orf226 OS=Homo sapiens OX=9606 GN=C1orf226 PE=1 SV=1 CANONICAL=A1L170-1", "length": 315, "sequence": "MLVLVAQAGGDTLKVTGHYVKCVFLLFVSHLLSEPLSRTVDHGMFENLNTALTPKLQASRSFPHLSKPVAPGSAPLGSGEPGGPGLWVGSSQHLKNLGKAMGAKVNDFLRRKEPSSLGSVGVTEINKTAGAQLASGTDAAPEAWLEDERSVLQETFPRLDPPPPITRKRTPRALKTTQDMLISSQPVLSSLEYGTEPSPGQAQDSAPTAQPDVPADASQPEATMEREERGKVLPNGEVSLSVPDLIHKDSQDESKLKMTECRRASSPSLIERNGFKLSLSPISLAESWEDGSPPPQARTSSLDNEGPHPDLLSFE" }, "locus": { "chromosome": "1", "end_pos": 162378914, "start_pos": 162383680, "strand": "-", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000426197", "id": "ENST00000426197", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000413150", "id": "ENSP00000413150", "database": "Ensembl Peptide" } ] } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:400793", "resource": "KEGG Pathway", "id": "hsa:400793", "name": "" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "J3QNH8-1", "protein_name": "Predicted gene 7694", "sequence": { "length": 270, "sequence": "MFENLNTTLTPKLQSSHSFPHLSRPGAPGSIAPGSGEPGGPGLRVGSSQHLRNLGKAVGAKVNDLLRRKESSSLGSVGVLEINKTAGAQLPGGEDAACGPWLEDERSVQEVFPLLDPPPPITRKRTPRALKTTQDMLISSQPVLSNLEYGTESPPGQAQDSPPAAQPISADTSRPESTIEMGEKGEALPNGEVSLLVPDLIHKNTQEEAKLKATEGKKSSSPGPIERNGLKLSLSPISLAESWENSSPPPQARTSSLDNEGLHPDLLSFE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/108141", "id": "108141", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "subjects_tested": "50", "alt_nt": "G", "chr_id": "1", "ref_nt": "A", "chr_pos": "162351999", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "Thyroid gland neoplasm" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "malignant neoplasm of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "malignant tumour of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "neoplasm of thyroid gland" }, { "url": "http://disease-ontology.org/term/DOID:1781", "description": "", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid neoplasm" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid gland cancer" } } ], "glycoeffect": [], "end_pos": 103, "frequency": "2.0", "sequence_mut": "G", "start_pos": 103, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L170", "id": "A1L170", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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