{ "uniprot_canonical_ac": "A4D1S5-1", "ptm_annotation": [], "sequence": { "header": "sp|A4D1S5-1|RAB19_HUMAN Isoform 1 of Ras-related protein Rab-19 OS=Homo sapiens OX=9606 GN=RAB19 PE=2 SV=2 CANONICAL=A4D1S5-1", "length": 217, "sequence": "MHFSSSARAADENFDYLFKIILIGDSNVGKTCVVQHFKSGVYTETQQNTIGVDFTVRSLDIDGKKVKMQVWDTAGQERFRTITQSYYRSAHAAIIAYDLTRRSTFESIPHWIHEIEKYGAANVVIMLIGNKCDLWEKRHVLFEDACTLAEKYGLLAVLETSAKESKNIEEVFVLMAKELIARNSLHLYGESALNGLPLDSSPVLMAQGPSEKTHCTC" }, "uniprot_id": "RAB19_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "taxid": 9606, "name": "Homo sapiens", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1S5", "id": "A4D1S5", "database": "UniProtKB" } ] } ], "crossref_internal": { "gene": [ "RAB19" ], "species": [ 9606 ], "disease": [ "DOID:3571", "DOID:1781", "DOID:10283", "DOID:3910", "DOID:11054", "DOID:3907", "DOID:5041" ], "site": [ "A4D1S5-1.69.69", "A4D1S5-1.90.90" ] }, "publication": [], "uniprot_ac": "A4D1S5", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D1S5#A4D1S5-1", "isoform_ac": "A4D1S5-1", "sequence": { "header": "sp|A4D1S5-1|RAB19_HUMAN Isoform 1 of Ras-related protein Rab-19 OS=Homo sapiens OX=9606 GN=RAB19 PE=2 SV=2 CANONICAL=A4D1S5-1", "length": 217, "sequence": "MHFSSSARAADENFDYLFKIILIGDSNVGKTCVVQHFKSGVYTETQQNTIGVDFTVRSLDIDGKKVKMQVWDTAGQERFRTITQSYYRSAHAAIIAYDLTRRSTFESIPHWIHEIEKYGAANVVIMLIGNKCDLWEKRHVLFEDACTLAEKYGLLAVLETSAKESKNIEEVFVLMAKELIARNSLHLYGESALNGLPLDSSPVLMAQGPSEKTHCTC" }, "locus": { "chromosome": "7", "end_pos": 140407647, "start_pos": 140426147, "strand": "-", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000537763", "id": "ENST00000537763", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000440167", "id": "ENSP00000440167", "database": "Ensembl Peptide" } ] } }, { "url": "https://www.uniprot.org/uniprot/A4D1S5#A4D1S5-2", "isoform_ac": "A4D1S5-2", "sequence": { "header": "sp|A4D1S5-2|RAB19_HUMAN Isoform 2 of Ras-related protein Rab-19 OS=Homo sapiens OX=9606 GN=RAB19 PE=2 SV=2 CANONICAL=A4D1S5-1", "length": 264, "sequence": "MHFSSSARAADENFDYLFKIILIGDSNVGKTCVVQHFKSGVYTETQQNTIGVDFTVRSLDIDGKKVKNSSASIITFASIQIHGQTQKMSPQIWTKSSHYLWEPLIWTLLPVLLQMQVWDTAGQERFRTITQSYYRSAHAAIIAYDLTRRSTFESIPHWIHEIEKYGAANVVIMLIGNKCDLWEKRHVLFEDACTLAEKYGLLAVLETSAKESKNIEEVFVLMAKELIARNSLHLYGESALNGLPLDSSPVLMAQGPSEKTHCTC" }, "locus": {} }, { "url": "https://www.uniprot.org/uniprot/A4D1S5#C9JJQ5-1", "isoform_ac": "C9JJQ5-1", "sequence": { "header": "tr|C9JJQ5-1|RAB19_HUMAN Computationally mapped isoform of Ras-related protein Rab-19 OS=Homo sapiens OX=9606 GN=RAB19 PE=2 SV=1 CANONICAL=A4D1S5-1", "length": 149, "sequence": "MHFSSSARAADENFDYLFKIILIGDSNVGKTCVVQHFKSGVYTETQQNTIGVDFTVRSLDIDGKKVKMQVWDTAGQERFRTITQSYYRSAHAAIIAYDLTRRSTFESIPHWIHEIEKYGAANVVIMLIGNKCDLWEKRHVLFEDACTLA" }, "locus": { "chromosome": "7", "end_pos": 140407647, "start_pos": 140425943, "strand": "-", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000495590", "id": "ENST00000495590", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000420782", "id": "ENSP00000420782", "database": "Ensembl Peptide" } ] } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:401409", "resource": "KEGG Pathway", "id": "hsa:401409", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8873719", "resource": "Reactome", "id": "R-HSA-8873719", "name": "RAB geranylgeranylation" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "P35294-1", "protein_name": "Ras-related protein Rab-19", "sequence": { "length": 217, "sequence": "MQFSSSSRTSDENVDYLFKVILIGDSNVGKTCVVQHFKSGVYSESQQNTIGVDFTVRSLEIDGKKVKMQVWDTAGQERFRTITQSYYRSAHAAIIAYDLTRRSTFESVPHWIHEIEKYGAANLVIMLIGNKSDLWEKRHVLFEDACTLAEKHGLLAVLETSAKESRNIDEVFVLMAKELIARNSLHLYGESAQQGLSQDSSPVLVAQVPNESTRCTC" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/22623", "id": "22623", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A4D1S5/", "id": "A4D1S5", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q5M7U5-1", "protein_name": "Ras-related protein Rab-19", "sequence": { "length": 217, "sequence": "MQFSSAARTVDENVDYLFKVILIGDSNVGKTCVVQHFKSGVYSESQQNTIGVDFTVRSLEIDGKKVKMQVWDTAGQERFRTITQSYYRSAHAAIIAYDLTRRSTFESVPHWIHEIEKYGAANLVIMLIGNKSDLWEKRHVLFEDACTLAEKYGLLAVLETSAKESRNIDEVFVLMAKELIARNSLHLYGESAQQGLPQDSSPVLVAHVPSERTHCTC" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/22623", "id": "22623", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A4D1S5/", "id": "A4D1S5", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "Q", "subjects_tested": "50", "alt_nt": "G", "chr_id": "7", "ref_nt": "A", "chr_pos": "140111678", "disease": [ { 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the neck below the thyroid cartilage.", "resource": "Disease Ontology", "id": "DOID:1781", "name": "thyroid gland cancer" } } ], "glycoeffect": [], "end_pos": 69, "frequency": "2.0", "sequence_mut": "R", "start_pos": 69, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1S5", "id": "A4D1S5", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "A", "subjects_tested": "50", "alt_nt": "T", "chr_id": "7", "ref_nt": "C", "chr_pos": "140111741", "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": 90, "frequency": "2.0", "sequence_mut": "V", "start_pos": 90, "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1S5", "id": "A4D1S5", "database": "BioMuta" } ], "minor_allelic_frequency": "", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008749.2", "ac": "NP_001008749.2", "name": "ras-related protein Rab-19", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "pmid": "21873635", "id": "GO:0003924", "name": "GTPase activity", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1S5", "id": "A4D1S5", "database": "UniProtKB" } ] }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "pmid": "", "id": "GO:0005525", "name": "GTP binding", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1S5", "id": "A4D1S5", "database": "UniProtKB" } ] } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "pmid": 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"PF00071", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A4D1S5", "id": "A4D1S5", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A4D1S5", "id": "PR_A4D1S5", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8873719", "id": "R-HSA-8873719", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008749.2", "id": "NP_001008749.2", "database": "RefSeq" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10283", "description": "", "resource": "Disease Ontology", "id": "DOID:10283", "name": "NGP - new growth of prostate" }, { "url": "http://disease-ontology.org/term/DOID:10283", "description": "", "resource": "Disease Ontology", "id": "DOID:10283", "name": "hereditary prostate cancer" }, { "url": "http://disease-ontology.org/term/DOID:10283", "description": "", 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