{ "uniprot_canonical_ac": "A5PLN7-1", "sequence": { "header": "sp|A5PLN7-1|F149A_HUMAN Isoform 1 of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=2 CANONICAL=A5PLN7-1", "length": 773, "sequence": "MKAAVLDLGSLLAKLFETSTAPPAGPSSRPSGGAAAAGSGGSRAGTPLGTAPTLLRALAPDSPSASRRSPAPLLSSPYSRGSAASRAAGAVGTLLSWPSSPRAGKAPPQPPTPSGGGCSPARLVVPARPPSGPGGVWAALPRNPLQPGPGERELGACVAPGAGPRTLFLTLPDIGEEGASDGDSGDGEARGLSEGRRRHGFTVRSKDSLPTHFTRNVQKAIDKYTCKSLSSFSSSGSHTPTGAHTSWSGSATQSSTTGSSTERGSVYSWRDDEFDEASSQSVQRLLWEVEEMLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRQSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" }, "uniprot_id": "F149A_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "protein FAM149A isoform 1", "protein FAM149A" ], "uniprotkb": [ "Protein FAM149A" ] }, "gene": { "refseq": [ "FAM149A", "MST119", "MSTP119" ], "uniprotkb": [ "FAM149A", "MST119", "MSTP119" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PLN7", "id": "A5PLN7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Protein FAM149A." }, "publication": [ { "title": "A Preliminary Genome-Wide Association Study of Acute Mountain Sickness Susceptibility in a Group of Nepalese Pilgrims Ascending to 4380 m.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26600424", "journal": "High altitude medicine & biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006656.1", "id": "NP_001006656.1", "database": "RefSeq" } ], "authors": "MacInnis MJ, Widmer N, Timulsina U, Subedi A, Siwakoti A, Pandit BP, Freeman MG, Carter EA, Manokhina I, Thapa GB, Koehle MS", "date": "2015", "pmid": "26600424" } ], "glycosylation": [], "mutation": [ { "start_pos": 588, "subjects_positive": "16", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (2/5): patient freq. (1.1%); patient count (16/1514). In dbSNP: rs201598032.", "sequence_org": "P", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "L", "subjects_tested": "1514", "end_pos": 588, "type": "Point mutation" }, { "start_pos": 159, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "D", "subjects_tested": "50", "end_pos": 159, "type": "Point mutation" }, { "start_pos": 69, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 69, "type": "Point mutation" }, { "start_pos": 461, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs201494456.", "sequence_org": "V", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "I", "subjects_tested": "1514", "end_pos": 461, "type": "Point mutation" }, { "start_pos": 461, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs201494456.", "sequence_org": "V", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "I", "subjects_tested": "558", "end_pos": 461, "type": "Point mutation" }, { "start_pos": 271, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "D", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "Y", "subjects_tested": "94", "end_pos": 271, "type": "Point mutation" }, { "start_pos": 36, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "D", "subjects_tested": "50", "end_pos": 36, "type": "Point mutation" }, { "start_pos": 260, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "S", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "C", "subjects_tested": "94", "end_pos": 260, "type": "Point mutation" }, { "start_pos": 461, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "0.3", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs201494456.", "sequence_org": "V", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "icd10": "", "name": "Pancreatic cancer" }, "sequence_mut": "I", "subjects_tested": "399", "end_pos": 461, "type": "Point mutation" }, { "start_pos": 443, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "V", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "F", "subjects_tested": "93", "end_pos": 443, "type": "Point mutation" }, { "start_pos": 728, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs748133281.", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "Q", "subjects_tested": "456", "end_pos": 728, "type": "Point mutation" }, { "start_pos": 728, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs748133281.", "sequence_org": "R", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "icd10": "", "name": "Stomach cancer" }, "sequence_mut": "Q", "subjects_tested": "1044", "end_pos": 728, "type": "Point mutation" }, { "start_pos": 632, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "E", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "K", "subjects_tested": "50", "end_pos": 632, "type": "Point mutation" }, { "start_pos": 195, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 195, "type": "Point mutation" }, { "start_pos": 185, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 185, "type": "Point mutation" }, { "start_pos": 728, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs748133281.", "sequence_org": "R", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "Q", "subjects_tested": "558", "end_pos": 728, "type": "Point mutation" }, { "start_pos": 184, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "Y", "subjects_tested": "50", "end_pos": 184, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5PLN7#A5PLN7-1", "isoform_ac": "A5PLN7-1", "locus": { "end_pos": 186105077, "start_pos": 186171984, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000356371", "id": "ENST00000356371", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000348732", "id": "ENSP00000348732", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5PLN7-1|F149A_HUMAN Isoform 1 of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=2 CANONICAL=A5PLN7-1", "length": 773, "sequence": "MKAAVLDLGSLLAKLFETSTAPPAGPSSRPSGGAAAAGSGGSRAGTPLGTAPTLLRALAPDSPSASRRSPAPLLSSPYSRGSAASRAAGAVGTLLSWPSSPRAGKAPPQPPTPSGGGCSPARLVVPARPPSGPGGVWAALPRNPLQPGPGERELGACVAPGAGPRTLFLTLPDIGEEGASDGDSGDGEARGLSEGRRRHGFTVRSKDSLPTHFTRNVQKAIDKYTCKSLSSFSSSGSHTPTGAHTSWSGSATQSSTTGSSTERGSVYSWRDDEFDEASSQSVQRLLWEVEEMLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRQSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#D6RC92-1", "isoform_ac": "D6RC92-1", "locus": { "end_pos": 186151960, "start_pos": 186154483, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000504330", "id": "ENST00000504330", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000422330", "id": "ENSP00000422330", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D6RC92-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 76, "sequence": "MLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISG" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#A5PLN7-2", "isoform_ac": "A5PLN7-2", "locus": { "end_pos": 186151960, "start_pos": 186171984, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000227065", "id": "ENST00000227065", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000227065", "id": "ENSP00000227065", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5PLN7-2|F149A_HUMAN Isoform 2 of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=2 CANONICAL=A5PLN7-1", "length": 482, "sequence": "MLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRQSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#H0Y8Y9-1", "isoform_ac": "H0Y8Y9-1", "locus": { "end_pos": 186167206, "start_pos": 186172044, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000502894", "id": "ENST00000502894", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000422584", "id": "ENSP00000422584", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y8Y9-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 53, "sequence": "XLTQMEFAAHTWTGQSILTEDNFDFQEEIPSDILKPPHQNHWSTCGLGTLLIT" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#A5PLN7-3", "isoform_ac": "A5PLN7-3", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A5PLN7-3|F149A_HUMAN Isoform 3 of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=2 CANONICAL=A5PLN7-1", "length": 772, "sequence": "MKAAVLDLGSLLAKLFETSTAPPAGPSSRPSGGAAAAGSGGSRAGTPLGTAPTLLRALAPDSPSASRRSPAPLLSSPYSRGSAASRAAGAVGTLLSWPSSPRAGKAPPQPPTPSGGGCSPARLVVPARPPSGPGGVWAALPRNPLQPGPGERELGACVAPGAGPRTLFLTLPDIGEEGASDGDSGDGEARGLSEGRRRHGFTVRSKDSLPTHFTRNVQKAIDKYTCKSLSSFSSSGSHTPTGAHTSWSGSATQSSTTGSSTERGSVYSWRDDEFDEASSQSVQRLLWEVEEMLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#A0A0A0MRZ3-1", "isoform_ac": "A0A0A0MRZ3-1", "locus": { "end_pos": 186151960, "start_pos": 186167011, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000389354", "id": "ENST00000389354", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000374005", "id": "ENSP00000374005", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0A0MRZ3-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 402, "sequence": "MLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTTADWRGPHGFPTGSNVTEQVPPASHGDQGAEYSSSWMPPCFLQRKASTKPCVECHA" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#A5PLN7-4", "isoform_ac": "A5PLN7-4", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A5PLN7-4|F149A_HUMAN Isoform 4 of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=2 CANONICAL=A5PLN7-1", "length": 764, "sequence": "MKAAVLDLGSLLAKLFETSTAPPAGPSSRPSGGAAAAGSGGSRAGTPLGTAPTLLRALAPDSPSASRRSPAPLLSSPYSRGSAASRAAGAVGTLLSWPSSPRAGKAPPQPPTPSGGGCSPARLVVPARPPSGPGGVWAALPRNPLQPGPGERELGACVAPGAGPRTLFLTLPDIGEEGASDGDSGDGEARGLSEGRRRHGFTVRSKDSLPTHFTRNVQKAIDKYTCGSHTPTGAHTSWSGSATQSSTTGSSTERGSVYSWRDDEFDEASSQSVQRLLWEVEEMLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRQSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#H0Y965-1", "isoform_ac": "H0Y965-1", "locus": { "end_pos": 186163558, "start_pos": 186167401, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000510843", "id": "ENST00000510843", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000423143", "id": "ENSP00000423143", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y965-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 147, "sequence": "XSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRQSDTPRKSSLTQMEFAAHTWTGQSILTGGNSKCLGPVA" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#D6RGX1-1", "isoform_ac": "D6RGX1-1", "locus": { "end_pos": 186151960, "start_pos": 186153666, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000509574", "id": "ENST00000509574", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000421136", "id": "ENSP00000421136", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D6RGX1-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 36, "sequence": "MLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLI" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#H0Y909-1", "isoform_ac": "H0Y909-1", "locus": { "end_pos": 186163559, "start_pos": 186171986, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000512271", "id": "ENST00000512271", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000422722", "id": "ENSP00000422722", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y909-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 159, "sequence": "XSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#D6RAL4-1", "isoform_ac": "D6RAL4-1", "locus": { "end_pos": 186151960, "start_pos": 186153741, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000510790", "id": "ENST00000510790", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000421713", "id": "ENSP00000421713", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D6RAL4-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 61, "sequence": "MLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:25854", "resource": "KEGG Pathway", "id": "hsa:25854", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006656.1", "annotation": "In total, 270,389 single nucleotide polymorphisms passed quality control, and 4 SNPs in the FAM149A gene were associated with Acute Mountain Sickness; however, in the validation cohorts, FAM149A was not associated with the presence or severity of AMS.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006656.1", "id": "NP_001006656.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "F1LUX5-1", "protein_name": "Family with sequence similarity 149, member A.", "sequence": { "length": 790, "sequence": "MKVAVLDLGSLFAKIFKISTASPAVSSHPGGAAATGSVDSGASTSLREAETLTLLPSLPPDTAASREPFTPVHTPLPASHPRSSAATHRVEAAGCPGSLPSNSGASIALPLAFYSGSVCSLASGALPSSGALPSSGAVWATLPSVTIPLDSNSNAASSPRNPRQLPAPGDPEPSVWMAPGPVPKTLFFTLPDIGEEWTSDSDSQDDPEGRGLSEGIRKHNSEKNKYPLPTNFTRNVQKAIDKFSSESPSSFSSSGSRTPTEAHNSWPDSSTQSSTTGLSTERSSVSSWRDDEFDKVNAQKVQQLFWEVEELLFEGKVSAQTQNLLTECNEWARRSLHLRVLGRQLIPPTDEGFQHFQGILPSSASQKPHVPNHISSTRELCISGSQIVPEVLSASALTDPDGTEQDLTSCSSLKEEVYHMDGNIEEYFAFDRKQDGDEHLEQNPTLRGKKWRQHGLPPISPVDCIRDAVAAEVFDHVWSNVVEILEDLVRKTWESALTDGKKHKEKLKVAESRSPHVLMSRLNTDVCSVPPSRSSETLQPSLAPHFNPPQFPQPHRFSSNFYRDLSGVMTIQAKPLQQRPTYFADRTQNEQDDKLPGGGVGASSRLRLGRVLDTRGPQTSAKKTPVHRRLPSIASDPQRLKTPTVYSDEILRGTKLQTGIDHLPSPAAAQTSRNRLPPIGSEAGEQNTAASGSRPVSYRGRHPQNRVLSAMPDSMEKSPLRERTIVLEQPSRPSTTHTFLSDTPRKGSLTPVDFAAHTWTGQGILTGSQYLPKSYQRVTLTARKRFQVAS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/827846/", "id": "827846", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/27540", "id": "27540", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8CFV2-1", "protein_name": "Protein FAM149A.", "sequence": { "length": 787, "sequence": "MKVAVLDLGSLFAKIFKLSTASPAVSSHPGGAAATGSVDSGASTSLREAETLTLLPSLPPDTAASREPFTPVHTPLPASHPRSSAAAQRVEATGCSGSLPSSSGASIAPPLTPYSGSAGSVASVTLPSPGVDWATLPSVTIPLGSNSVTASSPRNPRQLRAPGEREPSVWMAPGPVPKTLFFTLPDIGEEWTSDSDSQDDPEGRGLSEGLRKQSSEKSKDPLPTNFTRNVQKAIDKFASESPSSFSSSGSRTPTEAHNSWPGSSTQSSTTGLSTERSSVSSWRDDEFDKVSAQKVHQLFWEVEELLFEGKVSPQTQNLLAECSEWARRSLHLRVVGRQLVPPTDEGFQHFQGSLPSSATHEALPHVPDHTSSSRELCISGSQIVPEVHSASALTDPDGTESADLTSCSSLKEEVYHVDGNIEEYFAFDRKQDGDEHLGQSPALRGRKRHRHGLPPISPDDCIRDAVAAEVFDHVWTNVVEILEDLIRKTWESALTGGKKHKEKLKVAENRSPHVLMSRLSTDVCSVPPSRSSDTLQPSLAPHFNPPQFPQLHRFSSNFYSDLSGVMTIQAKPLQQRPTYSADRTQNDQDDKLPGGGVGASSRHRLGRILDARGPQTSVKKTPVHRRLPSIASDPQRLKTPTVYSDEILRGTKLQTGIDYLPSPAAVQTSRSRLPPIGSETGEPNTAASGSRPVSYRGRHPQSRVFSAMPDSIERSPLRERTIVLEQLSRPSTTHTFRSDTPRKGSLTPVEFVAHTWTGQSILTGSQYLPKSYQRATLTARKRFQVAS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/27540", "id": "27540", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006656.1", "ac": "NP_001006656.1", "name": "protein FAM149A isoform 1; protein FAM149A.", "summary": "" }, "go_annotation": {}, "site_annotation": [], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006656.1", "id": "NP_001006656.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24527", "id": "24527", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A5PLN7", "id": "A5PLN7", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A5PLN7", "id": "NX_A5PLN7", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM149A", "id": "FAM149A", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:25854", "id": "hsa:25854", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109794", "id": "ENSG00000109794", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/PKDEGFQ/", "id": "PKDEGFQ", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR022194", "id": "IPR022194", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR039630", "id": "IPR039630", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF12516", "id": "PF12516", "database": "Pfam" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31997", "id": "PTHR31997", "database": "PANTHER" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A5PLN7", "id": "PR_A5PLN7", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A5PLN7*", "id": "A5PLN7", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/25854", "id": "25854", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLN7", "id": "A5PLN7", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLN7", "id": "A5PLN7", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLN7", "id": "A5PLN7", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLN7", "id": "A5PLN7", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLN7", "id": "A5PLN7", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLN7", "id": "A5PLN7", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLN7", "id": "A5PLN7", "database": "BioXpress" } ] } ], "uniprot_ac": "A5PLN7", "disease": [], "mass": { "monoisotopic_mass": 82698.0, "chemical_mass": 82698.0 }, "expression_tissue": [ { "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=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "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=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "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=hsa:25854", "id": "hsa:25854", "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=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "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=hsa:25854", "id": "hsa:25854", "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=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "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=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:25854", "id": "hsa:25854", "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=hsa:25854", "id": "hsa:25854", "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=hsa:25854", "id": "hsa:25854", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A5PLN7", "name": "FAM149A; MST119; MSTP119.", "locus": { "end_pos": 186172667, "start_pos": 186104419, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000109794", "id": "ENSG00000109794", "database": "Ensembl Gene" } ] } } ] }