{ "uniprot_canonical_ac": "A4D161-1", "ptm_annotation": [], "sequence": { "header": "sp|A4D161-1|F221A_HUMAN Isoform 1 of Protein FAM221A OS=Homo sapiens OX=9606 GN=FAM221A PE=1 SV=1 CANONICAL=A4D161-1", "length": 298, "sequence": "MERLTLPLGGAAAVDEYLEYRRIVGEDDGGKLFTPEEYEEYKRKVLPLRLQNRLFVSWRSPTGMDCKLVGPETLCFCTHRYKQHKTDLEAIPQQCPIDLPCQVTGCQCRAYLYVPLNGSQPIRCRCKHFADQHSAAPGFTCNTCSKCSGFHSCFTCACGQPAYAHDTVVETKQERLAQEKPVGQDIPYAAMGGLTGFSSLAEGYMRLDDSGIGVPSVEFLESPITAVDSPFLKAFQASSSSSPETLTDVGTSSQVSSLRRPEEDDMAFFERRYQERMKMEKAAKWKGKAPLPSATKPS" }, "uniprot_id": "B8ZZQ8_HUMAN", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D161", "id": "A4D161", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28657654", "type": "PubMed", "id": "28657654" } ], "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "evidence": [ { "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A4D161", "id": "A4D161", "database": "O-GlcNAc Database" } ], "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "date": "2017" } ], "uniprot_ac": "A4D161", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A4D161", "type": "synonym", "resource": "RefSeq", "name": "C7orf46" }, { "url": "https://www.uniprot.org/uniprot/A4D161", "type": "synonym", "resource": "UniProtKB", "name": "C7orf46" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4D161", "type": "synonym", "resource": "RefSeq", "name": "FAM221A" }, { "url": "https://www.uniprot.org/uniprot/A4D161", "type": "recommended", "resource": "UniProtKB", "name": "FAM221A" }, { "url": "https://www.uniprot.org/uniprot/A4D161", "type": "synonym", "resource": "UniProtKB", "name": "MGC72075" }, { "url": "https://www.uniprot.org/uniprot/A4D161", "type": "synonym", "resource": "UniProtKB", "name": "hCG_37984" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D161#A4D161-1", "isoform_ac": "A4D161-1", "locus": { "end_pos": 23680219, "strand": "-", "start_pos": 23702161, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000344962", "id": "ENST00000344962", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000342576", "id": "ENSP00000342576", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D161-1|F221A_HUMAN Isoform 1 of Protein FAM221A OS=Homo sapiens OX=9606 GN=FAM221A PE=1 SV=1 CANONICAL=A4D161-1", "length": 298, "sequence": "MERLTLPLGGAAAVDEYLEYRRIVGEDDGGKLFTPEEYEEYKRKVLPLRLQNRLFVSWRSPTGMDCKLVGPETLCFCTHRYKQHKTDLEAIPQQCPIDLPCQVTGCQCRAYLYVPLNGSQPIRCRCKHFADQHSAAPGFTCNTCSKCSGFHSCFTCACGQPAYAHDTVVETKQERLAQEKPVGQDIPYAAMGGLTGFSSLAEGYMRLDDSGIGVPSVEFLESPITAVDSPFLKAFQASSSSSPETLTDVGTSSQVSSLRRPEEDDMAFFERRYQERMKMEKAAKWKGKAPLPSATKPS" } }, { "url": "https://www.uniprot.org/uniprot/A4D161#A4D161-2", "isoform_ac": "A4D161-2", "locus": { "end_pos": 23680219, "strand": "-", "start_pos": 23702161, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409192", "id": "ENST00000409192", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386927", "id": "ENSP00000386927", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D161-2|F221A_HUMAN Isoform 2 of Protein FAM221A OS=Homo sapiens OX=9606 GN=FAM221A PE=1 SV=1 CANONICAL=A4D161-1", "length": 262, "sequence": "MERLTLPLGGAAAVDEYLEYRRIVGEDDGGKLFTPEEYEEYKRKVLPLRLQNRLFVSWRSPTGMDCKLVGPETLCFCTHRYKQHKTDLEAIPQQCPIDLPCQVTGCQCRAYLYVPLNGSQPIRCRCKHFADQHSAAPGFTCNTCSKCSGFHSCFTCACGQPAYAHDTVVETKQERLAQEKPVGQDIPYAAMGGLTGFSSLAEGYMRLDDSGIVGTSSQVSSLRRPEEDDMAFFERRYQERMKMEKAAKWKGKAPLPSATKPS" } }, { "url": "https://www.uniprot.org/uniprot/A4D161#A4D161-3", "isoform_ac": "A4D161-3", "locus": { "end_pos": 23680219, "strand": "-", "start_pos": 23702161, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409994", "id": "ENST00000409994", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386631", "id": "ENSP00000386631", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D161-3|F221A_HUMAN Isoform 3 of Protein FAM221A OS=Homo sapiens OX=9606 GN=FAM221A PE=1 SV=1 CANONICAL=A4D161-1", "length": 204, "sequence": "MERLTLPLGGAAAVDEYLEYRRYKQHKTDLEAIPQQCPIDLPCQVTGCQCRAYLYVPLNGSQPIRCRCKHFADQHSAAPGFTCNTCSKCSGFHSCFTCACGQPAYAHDTVVETKQERLAQEKPVGQDIPYAAMGGLTGFSSLAEGYMRLDDSGIVGTSSQVSSLRRPEEDDMAFFERRYQERMKMEKAAKWKGKAPLPSATKPS" } }, { "url": "https://www.uniprot.org/uniprot/A4D161#B8ZZQ8-1", "isoform_ac": "B8ZZQ8-1", "locus": { "end_pos": 23680219, "strand": "-", "start_pos": 23702161, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409653", "id": "ENST00000409653", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386900", "id": "ENSP00000386900", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B8ZZQ8-1|B8ZZQ8_HUMAN Computationally mapped isoform of Protein FAM221A OS=Homo sapiens OX=9606 GN=FAM221A PE=1 SV=1 CANONICAL=A4D161-1", "length": 240, "sequence": "MERLTLPLGGAAAVDEYLEYRRYKQHKTDLEAIPQQCPIDLPCQVTGCQCRAYLYVPLNGSQPIRCRCKHFADQHSAAPGFTCNTCSKCSGFHSCFTCACGQPAYAHDTVVETKQERLAQEKPVGQDIPYAAMGGLTGFSSLAEGYMRLDDSGIGVPSVEFLESPITAVDSPFLKAFQASSSSSPETLTDVGTSSQVSSLRRPEEDDMAFFERRYQERMKMEKAAKWKGKAPLPSATKPS" } }, { "url": "https://www.uniprot.org/uniprot/A4D161#F8WCP2-1", "isoform_ac": "F8WCP2-1", "locus": { "end_pos": 23680219, "strand": "-", "start_pos": 23688282, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000446234", "id": "ENST00000446234", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000404551", "id": "ENSP00000404551", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WCP2-1|F8WCP2_HUMAN Computationally mapped isoform of Protein FAM221A OS=Homo sapiens OX=9606 GN=FAM221A PE=1 SV=1 CANONICAL=A4D161-1", "length": 98, "sequence": "MERLTLPLGGAAAVDEYLEYRRIVGEDDGGKLFTPEEYEEYKRKVLPLRLQNRLFVSWRSPTGMDCKLVGPETLCFCTHSRDGGFHRVSQDGLDLLTL" } }, { "url": "https://www.uniprot.org/uniprot/A4D161#F8WCP3-1", "isoform_ac": "F8WCP3-1", "locus": { "end_pos": 23680219, "strand": "-", "start_pos": 23686391, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000429719", "id": "ENST00000429719", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000416525", "id": "ENSP00000416525", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WCP3-1|F8WCP3_HUMAN Computationally mapped isoform of Protein FAM221A OS=Homo sapiens OX=9606 GN=FAM221A PE=1 SV=1 CANONICAL=A4D161-1", "length": 114, "sequence": "MERLTLPLGGAAAVDEYLEYRRIVGEDDGGKLFTPEEYEEYKRKVLPLRLQNRLFVSWRSPTGMDCKLVGPETLCFCTHRVLLCHSGWSAVARSWLIAASTSWAQAILRPQPPK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:340277", "resource": "KEGG Pathway", "id": "hsa:340277", "name": "" } ], "reaction_participants": [], "function": [], "orthologs": [ { "uniprot_canonical_ac": "Q4V8D7-1", "protein_name": "Protein FAM221A", "sequence": { "length": 296, "sequence": "MERLTLPPGGAQAVDEYLEYRRIVGEDDGGKLFTPEEYEEYKKKVLPMRLQNRLFVSWRSPTGMDCKLVGPETLCFCTHRYKQHKTDFETVPQQRPIDLPCRVTGCQCKAYHYVPLNGTQPIRCRCKHFADQHSPALGFTCNACSKCSGFHSCFTCACGQPAYAHDTVVETRQERLAQGKPVGQDVPYAAMGGLTGFSSLAEGYMRLDDSGIGAPSVDVLDSPVSVMDHPFLRAMQPPSTSSPQPLAVGPSTQISSLRKPEEDDMAYFERQYQERIKMEKAAKKGKALPPPSTQPS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/18214", "id": "18214", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Fam221a", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8C790-1", "protein_name": "Protein FAM221A", "sequence": { "length": 301, "sequence": "MERLTLPPGGAEAVDEYLEYRRIVGEDDGGKLFTPEEYEEYKKKVLPMRLQNRLFVSWRSPTGMDCKLVGPETLCFCTHRYKQHKTDFETIPQQRPIALPCRVSGCRCKAYHYVPLNGTQPIRCRCKHFADQHSAALGFTCNACSKCSGFHSCYTCACGQPAYAHDTVVETRQERLAQGKPVGRDVPYAAMGGLTGFSSLAEGYMRLDDSGIGAPSVEVLDSAVSAMDHPFLRAMHAPSTSSPQPLAGGNEVGPSTQLSSLRKPEEDDMAYFERQYQERIKLEKAAKQKGKVPPLPSTKPS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/18214", "id": "18214", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Fam221a", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "S", "start_pos": 119, "alt_nt": "T", "chr_id": "7", "subjects_positive": "1", "chr_pos": "23729004", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D161", "id": "A4D161", "database": "BioMuta" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "I", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 119, "minor_allelic_frequency": "", "ref_nt": "G" }, { "sequence_org": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HDT->NDT).", "alt_nt": "null", "chr_id": "7", "ref_nt": "A", "chr_pos": "23691452C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453242665", "id": "rs1453242665", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453242665", "id": "rs1453242665", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 165, "keywords": [ "ebi", "germline" ], "end_pos": 165, "minor_allelic_frequency": "" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.6%).", "sequence_org": "S", "start_pos": 199, "alt_nt": "T", "chr_id": "7", "subjects_positive": "1", "chr_pos": "23731174", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; 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"yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188732", "id": "ENSG00000188732", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188732", "id": "ENSG00000188732", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188732", "id": "ENSG00000188732", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188732", "id": "ENSG00000188732", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188732", "id": "ENSG00000188732", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188732", "id": "ENSG00000188732", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188732", "id": "ENSG00000188732", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188732", "id": "ENSG00000188732", "database": "Bgee" } ] }, { 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"ENSG00000188732", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188732", "id": "ENSG00000188732", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188732", "id": "ENSG00000188732", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A4D161", "name": "FAM221A", "locus": { "end_pos": 23703249, "strand": "+", "start_pos": 23680130, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000188732", "id": "ENSG00000188732", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A4D161#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Protein FAM221A" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4D161", "type": "synonym", "resource": "RefSeq", "name": "protein FAM221A isoform 2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4D161", "type": "synonym", "resource": "RefSeq", "name": "protein FAM221A isoform 4" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4D161", "type": "synonym", "resource": "RefSeq", "name": "uncharacterized protein C7orf46; protein FAM221A" } ] }