{ "uniprot_canonical_ac": "O95294-1", "uniprot_ac": "O95294", "uniprot_id": "RASL1_HUMAN", "mass": { "chemical_mass": 90016.0, "monoisotopic_mass": 90016.0 }, "refseq": { "ac": "NP_001180449", "name": "rasGAP-activating-like protein 1 isoform 1", "summary": "The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" }, "gene_names": [ { "name": "RASAL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95294", "id": "O95294" }, { "name": "RASAL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449", "id": "NP_001180449" }, { "name": "RASAL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449", "id": "NP_001180449" }, { "name": "RASAL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95294", "id": "O95294" } ], "protein_names": [ { "name": "RasGAP-activating-like protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95294" }, { "name": "RAS protein activator like 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95294" }, { "name": "Ras GTPase-activating-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95294" }, { "name": "ras GTPase-activating-like protein; GAP1 like protein; rasGAP-activating-like protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449", "id": "NP_001180449" }, { "name": "rasGAP-activating-like protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449", "id": "NP_001180449" } ], "function": [ { "annotation": "DNA methylation, TGFbeta1 and RASAL1 appear to have an interacting relationship. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" }, { "database": "PubMed", "id": "27124111", "url": "https://glygen.org/publication/PubMed/27124111" } ] }, { "annotation": "Decreased expression of the RAS-GTPase activating protein RASAL1 is associated with colorectal tumor progression.", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" }, { "database": "PubMed", "id": "18992247", "url": "https://glygen.org/publication/PubMed/18992247" } ] }, { "annotation": "Domain topology of human Rasal", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" }, { "database": "PubMed", "id": "28885980", "url": "https://glygen.org/publication/PubMed/28885980" } ] }, { "annotation": "Galpha and Gbeta gamma require distinct Src-dependent pathways for its activation", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" }, { "database": "PubMed", "id": "12221082", "url": "https://glygen.org/publication/PubMed/12221082" } ] }, { "annotation": "HIF1alpha and transforming growth factor (TGF)/SMAD signalling pathways synergistically regulate hypoxia-induced endothelial-to-mesenchymal transition through both DNMT3a-mediated hypermethylation of RASAL1 promoter and direct SNAIL induction.", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" }, { "database": "PubMed", "id": "27012941", "url": "https://glygen.org/publication/PubMed/27012941" } ] }, { "annotation": "Our study showed significantly longer overall survival times for oesophagogastric adenocarcinoma patients without RASAL1 expression", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" }, { "database": "PubMed", "id": "28011578", "url": "https://glygen.org/publication/PubMed/28011578" } ] }, { "annotation": "Probable inhibitory regulator of the Ras-cyclic AMP pathway (PubMed:9751798). Plays a role in dendrite formation by melanocytes (PubMed:23999003).", "evidence": [ { "database": "UniProtKB", "id": "O95294", "url": "https://www.uniprot.org/uniprot/O95294#function" }, { "database": "PubMed", "id": "23999003", "url": "https://glygen.org/publication/PubMed/23999003" }, { "database": "PubMed", "id": "9751798", "url": "https://glygen.org/publication/PubMed/9751798" } ] }, { "annotation": "RASAL constitutes a tumor suppressor gene and therefore further emphasized the importance of Ca(2+) in the regulation of Ras signaling and has established that deregulation of this pathway is an important step in Ras-mediated tumorigenesis", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" }, { "database": "PubMed", "id": "17640920", "url": "https://glygen.org/publication/PubMed/17640920" } ] }, { "annotation": "RASAL preservs of Ca2+ frequency information", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" }, { "database": "PubMed", "id": "16009725", "url": "https://glygen.org/publication/PubMed/16009725" } ] }, { "annotation": "RASAL1 role in in sorafenib-resistance of liver cancer cells", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" }, { "database": "PubMed", "id": "27878301", "url": "https://glygen.org/publication/PubMed/27878301" } ] }, { "annotation": "The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95294", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95294" } ], "glycoeffect": [], "start_pos": 473, "end_pos": 473, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "113108178", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F473", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric 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"name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95294", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95294" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95294", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95294" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95294" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95294", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95294" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95294", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95294" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95294" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95294", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95294" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95294" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95294", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95294" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of 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}, { "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O95294", "url": "https://www.uniprot.org/uniprot/O95294", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95294-1", "url": "https://www.uniprot.org/uniprot/O95294-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95294-2", "url": "https://www.uniprot.org/uniprot/O95294-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95294-3", "url": "https://www.uniprot.org/uniprot/O95294-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95294-4", "url": "https://www.uniprot.org/uniprot/O95294-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAKSSSLNVRVVEGRALPAKDVSGSSDPYCLVKVDDEVVARTATVWRSLGPFWGEEYTVHLPLDFHQLAFYVLDEDTVGHDDIIGKISLSREAITADPRGIDSWINLSRVDPDAEVQGEICLSVQMLEDGQGRCLRCHVLQARDLAPRDISGTSDPFARVFWGSQSLETSTIKKTRFPHWDEVLELREMPGAPSPLRVELWDWDMVGKNDFLGMVEFSPKTLQQKPPKGWFRLLPFPRAEEDSGGNLGALRVKVRLIEDRVLPSQCYQPLMELLMESVQGPAEEDTASPLALLEELTLGDCRQDLATKLVKLFLGRGLAGRFLDYLTRREVARTMDPNTLFRSNSLASKSMEQFMKLVGMPYLHEVLKPVISRVFEEKKYMELDPCKMDLGRTRRISFKGALSEEQMRETSLGLLTGYLGPIVDAIVGSVGRCPPAMRLAFKQLHRRVEERFPQAEHQDVKYLAISGFLFLRFFAPAILTPKLFDLRDQHADPQTSRSLLLLAKAVQSIGNLGQQLGQGKELWMAPLHPFLLQCVSRVRDFLDRLVDVDGDEAGVPARALFPPSAIVREGYLLKRKEEPAGLATRFAFKKRYVWLSGETLSFSKSPEWQMCHSIPVSHIRAVERVDEGAFQLPHVMQVVTQDGTGALHTTYLQCKNVNELNQWLSALRKASAPNPNKLAACHPGAFRSARWTCCLQAERSAAGCSRTHSAVTLGDWSDPLDPDAEAQTVYRQLLLGRDQLRLKLLEDSNMDTTLEADTGACPEVLARQRAATARLLEVLADLDRAHEEFQQQERGKAALGPLGP", "length": 804, "header": "sp|O95294-1|RASL1_HUMAN Isoform 1 of RasGAP-activating-like protein 1 OS=Homo sapiens OX=9606 GN=RASAL1 PE=1 SV=3 CANONICAL=O95294-1" }, "isoforms": [ { "isoform_ac": "O95294-1", "url": "", "sequence": { "sequence": "MAKSSSLNVRVVEGRALPAKDVSGSSDPYCLVKVDDEVVARTATVWRSLGPFWGEEYTVHLPLDFHQLAFYVLDEDTVGHDDIIGKISLSREAITADPRGIDSWINLSRVDPDAEVQGEICLSVQMLEDGQGRCLRCHVLQARDLAPRDISGTSDPFARVFWGSQSLETSTIKKTRFPHWDEVLELREMPGAPSPLRVELWDWDMVGKNDFLGMVEFSPKTLQQKPPKGWFRLLPFPRAEEDSGGNLGALRVKVRLIEDRVLPSQCYQPLMELLMESVQGPAEEDTASPLALLEELTLGDCRQDLATKLVKLFLGRGLAGRFLDYLTRREVARTMDPNTLFRSNSLASKSMEQFMKLVGMPYLHEVLKPVISRVFEEKKYMELDPCKMDLGRTRRISFKGALSEEQMRETSLGLLTGYLGPIVDAIVGSVGRCPPAMRLAFKQLHRRVEERFPQAEHQDVKYLAISGFLFLRFFAPAILTPKLFDLRDQHADPQTSRSLLLLAKAVQSIGNLGQQLGQGKELWMAPLHPFLLQCVSRVRDFLDRLVDVDGDEAGVPARALFPPSAIVREGYLLKRKEEPAGLATRFAFKKRYVWLSGETLSFSKSPEWQMCHSIPVSHIRAVERVDEGAFQLPHVMQVVTQDGTGALHTTYLQCKNVNELNQWLSALRKASAPNPNKLAACHPGAFRSARWTCCLQAERSAAGCSRTHSAVTLGDWSDPLDPDAEAQTVYRQLLLGRDQLRLKLLEDSNMDTTLEADTGACPEVLARQRAATARLLEVLADLDRAHEEFQQQERGKAALGPLGP", "length": 804, "header": "sp|O95294-1|RASL1_HUMAN Isoform 1 of RasGAP-activating-like protein 1 OS=Homo sapiens OX=9606 GN=RASAL1 PE=1 SV=3 CANONICAL=O95294-1" }, "locus": { "chromosome": "12", "start_pos": 113135462, "end_pos": 113099932, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261729.9", "url": "https://www.ensembl.org/id/ENST00000261729.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000261729.5", "url": "https://www.ensembl.org/id/ENSP00000261729.5" } ] } }, { "isoform_ac": "O95294-2", "url": "", "sequence": { "sequence": "MAKSSSLNVRVVEGRALPAKDVSGSSDPYCLVKVDDEVVARTATVWRSLGPFWGEEYTVHLPLDFHQLAFYVLDEDTVGHDDIIGKISLSREAITADPRGIDSWINLSRVDPDAEVQGEICLSVQMLEDGQGRCLRCHVLQARDLAPRDISGTSDPFARVFWGSQSLETSTIKKTRFPHWDEVLELREMPGAPSPLRVELWDWDMVGKNDFLGMVEFSPKTLQQKPPKGWFRLLPFPRAEEDSGGNLGALRVKVRLIEDRVLPSQCYQPLMELLMESVQGPAEEDTASPLALLEELTLGDCRQDLATKLVKLFLGRGLAGRFLDYLTRREVARTMDPNTLFRSNSLASKSMEQFMKLVGMPYLHEVLKPVISRVFEEKKYMELDPCKMDLGRTRRISFKGALSEEQMRETSLGLLTGYLGPIVDAIVGSVGRCPPAMRLAFKQLHRRVEERFPQAEHQDVKYLAISGFLFLRFFAPAILTPKLFDLRDQHADPQTSRSLLLLAKAVQSIGNLGQQLGQGKELWMAPLHPFLLQCVSRVRDFLDRLVDVDGDEAGVPARALFPPSAIVREGYLLKRKEEPAGLATRFAFKKRYVWLSGETLSFSKSPEWQVVTQDGTGALHTTYLQCKNVNELNQWLSALRKASAPNPNKLAACHPGAFRSARWTCCLQAERSAAGCSRTHSAVTLGDWSDPLDPDAEAQTVYRQLLLGRDQLRLKLLEDSNMDTTLEADTGACPEVLARQRAATARLLEVLADLDRAHEEFQQQERGKAALGPLGP", "length": 776, "header": "sp|O95294-2|RASL1_HUMAN Isoform 2 of RasGAP-activating-like protein 1 OS=Homo sapiens OX=9606 GN=RASAL1 PE=1 SV=3 CANONICAL=O95294-1" }, "locus": { "chromosome": "12", "start_pos": 113135462, "end_pos": 113099932, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446861.7", "url": "https://www.ensembl.org/id/ENST00000446861.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000395920.3", "url": "https://www.ensembl.org/id/ENSP00000395920.3" } ] } }, { "isoform_ac": "O95294-3", "url": "", "sequence": { "sequence": "MAKSSSLNVRVVEGRALPAKDVSGSSDPYCLVKVDDEVVARTATVWRSLGPFWGEEYTVHLPLDFHQLAFYVLDEDTVGHDDIIGKISLSREAITADPRGIDSWINLSRVDPDAEVQGEICLSVQMLEDGQGRCLRCHVLQARDLAPRDISGTSDPFARVFWGSQSLETSTIKKTRFPHWDEVLELREMPGAPSPLRVELWDWDMVGKNDFLGMVEFSPKTLQQKPPKGWFRLLPFPRAEEDSGGNLGALRVKVRLIEDRVLPSQCYQPLMELLMESVQGPAEEDTASPLALLEELTLGDCRQDLATKLVKLFLGRGLAGRFLDYLTRREVARTMDPNTLFRSNSLASKSMEQFMKLVGMPYLHEVLKPVISRVFEEKKYMELDPCKMDLGRTRRISFKGALSEEQMRETSLGLLTGYLGPIVDAIVGSVGRCPPAMRLAFKQLHRRVEERFPQAEHQQDVKYLAISGFLFLRFFAPAILTPKLFDLRDQHADPQTSRSLLLLAKAVQSIGNLGQQLGQGKELWMAPLHPFLLQCVSRVRDFLDRLVDVDGDEEAGVPARALFPPSAIVREGYLLKRKEEPAGLATRFAFKKRYVWLSGETLSFSKSPEWQMCHSIPVSHIRAVERVDEGAFQLPHVMQVVTQDGTGALHTTYLQCKNVNELNQWLSALRKASAPNPNKLAACHPGAFRSARWTCCLQAERSAAGCSRTHSAVTLGDWSDPLDPDAEAQTVYRQLLLGRDQLRLKLLEDSNMDTTLEADTGACPEVLARQRAATARLLEVLADLDRAHEEFQQQERGKAALGPLGP", "length": 806, "header": "sp|O95294-3|RASL1_HUMAN Isoform 3 of RasGAP-activating-like protein 1 OS=Homo sapiens OX=9606 GN=RASAL1 PE=1 SV=3 CANONICAL=O95294-1" }, "locus": { "chromosome": "12", "start_pos": 113135462, "end_pos": 113099932, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546530.5", "url": "https://www.ensembl.org/id/ENST00000546530.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450244.1", "url": "https://www.ensembl.org/id/ENSP00000450244.1" } ] } }, { "isoform_ac": "O95294-4", "url": "", "sequence": { "sequence": "MAKSSSLNVRVVEGRALPAKDVSGSSDPYCLVKVDDEVVARTATVWRSLGPFWGEEYTVHLPLDFHQLAFYVLDEDTVGHDDIIGKISLSREAITADPRGIDSWINLSRVDPDAEVQGEICLSVQMLEDGQGRCLRCHVLQARDLAPRDISGTSDPFARVFWGSQSLETSTIKKTRFPHWDEVLELREMPGAPSPLRVELWDWDMVGKNDFLGMVEFSPKTLQQKPPKGWFRLLPFPRAEEDSGGNLGALRVKVRLIEDRVLPSQCYQPLMELLMESVQGPAEEDTASPLALLEELTLGDCRQDLATKLVKLFLGRGLAGRFLDYLTRREVARTMDPNTLFRSNSLASKSMEQFMKLVGMPYLHEVLKPVISRVFEEKKYMELDPCKMDLGRTRRISFKGALSEEQMRETSLGLLTGYLGPIVDAIVGSVGRCPPAMRLAFKQLHRRVEERFPQAEHQDVKYLAISGFLFLRFFAPAILTPKLFDLRDQHADPQTSRSLLLLAKAVQSIGNLGQQLGQGKELWMAPLHPFLLQCVSRVRDFLDRLVDVDGDEEAGVPARALFPPSAIVREGYLLKRKEEPAGLATRFAFKKRYVWLSGETLSFSKSPEWQMCHSIPVSHIRAVERVDEGAFQLPHVMQVVTQDGTGALHTTYLQCKNVNELNQWLSALRKASAPNPNKLAACHPGAFRSARWTCCLQAERSAAGCSRTHSAVTLGDWSDPLDPDAEAQTVYRQLLLGRDQLRLKLLEDSNMDTTLEADTGACPEVLARQRAATARLLEVLADLDRAHEEFQQQERGKAALGPLGP", "length": 805, "header": "sp|O95294-4|RASL1_HUMAN Isoform 4 of RasGAP-activating-like protein 1 OS=Homo sapiens OX=9606 GN=RASAL1 PE=1 SV=3 CANONICAL=O95294-1" }, "locus": { "chromosome": "12", "start_pos": 113135462, "end_pos": 113099932, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548055.2", "url": "https://www.ensembl.org/id/ENST00000548055.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000448510.1", "url": "https://www.ensembl.org/id/ENSP00000448510.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "O95294", "url": "https://www.uniprot.org/uniprot/O95294" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Spred is a Sprouty-related suppressor of Ras signalling.", "journal": "Nature", "date": "2001", "authors": "Wakioka T, Sasaki A, Kato R, Shouda T, Matsumoto A, Miyoshi K, Tsuneoka M, Komiya S, Baron R, Yoshimura A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "11493923", "url": "https://glygen.org/publication/PubMed/11493923" } ] }, { "title": "Galpha and Gbeta gamma require distinct Src-dependent pathways to activate Rap1 and Ras.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Schmitt JM, Stork PJ", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" } ], "reference": [ { "type": "PubMed", "id": "12221082", "url": "https://glygen.org/publication/PubMed/12221082" } ] }, { "title": "Dynamic regulation of the Ras pathway via proteolysis of the NF1 tumor suppressor.", "journal": "Genes & development", "date": "2003", "authors": "Cichowski K, Santiago S, Jardim M, Johnson BW, Jacks T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "12600938", "url": "https://glygen.org/publication/PubMed/12600938" } ] }, { "title": "Molecular cloning of mammalian Spred-3 which suppresses tyrosine kinase-mediated Erk activation.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Kato R, Nonami A, Taketomi T, Wakioka T, Kuroiwa A, Matsuda Y, Yoshimura A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "12646235", "url": "https://glygen.org/publication/PubMed/12646235" } ] }, { "title": "Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Ahmadian MR, Kiel C, Stege P, Scheffzek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "12787671", "url": "https://glygen.org/publication/PubMed/12787671" } ] }, { "title": "Distinct requirements for the Sprouty domain for functional activity of Spred proteins.", "journal": "The Biochemical journal", "date": "2005", "authors": "King JA, Straffon AF, D'Abaco GM, Poon CL, I ST, Smith CM, Buchert M, Corcoran NM, Hall NE, Callus BA, Sarcevic B, Martin D, Lock P, Hovens CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "15683364", "url": "https://glygen.org/publication/PubMed/15683364" } ] }, { "title": "Ras regulation. NF is enough of GAP.", "journal": "Nature", "date": "1992", "authors": "Bollag G, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "1570011", "url": "https://glygen.org/publication/PubMed/1570011" } ] }, { "title": "CAPRI and RASAL impose different modes of information processing on Ras due to contrasting temporal filtering of Ca2+.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Liu Q, Walker SA, Gao D, Taylor JA, Dai YF, Arkell RS, Bootman MD, Roderick HL, Cullen PJ, Lockyer PJ", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" } ], "reference": [ { "type": "PubMed", "id": "16009725", "url": "https://glygen.org/publication/PubMed/16009725" } ] }, { "title": "Eve-3: a liver enriched suppressor of Ras/MAPK signaling.", "journal": "Journal of hepatology", "date": "2006", "authors": "King JA, Corcoran NM, D'Abaco GM, Straffon AF, Smith CT, Poon CL, Buchert M, I S, Hall NE, Lock P, Hovens CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "16478641", "url": "https://glygen.org/publication/PubMed/16478641" } ] }, { "title": "Epigenetic silencing of a Ca(2+)-regulated Ras GTPase-activating protein RASAL defines a new mechanism of Ras activation in human cancers.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Jin H, Wang X, Ying J, Wong AH, Cui Y, Srivastava G, Shen ZY, Li EM, Zhang Q, Jin J, Kupzig S, Chan AT, Cullen PJ, Tao Q", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" } ], "reference": [ { "type": "PubMed", "id": "17640920", "url": "https://glygen.org/publication/PubMed/17640920" } ] }, { "title": "Decreased expression of the RAS-GTPase activating protein RASAL1 is associated with colorectal tumor progression.", "journal": "Gastroenterology", "date": "2009", "authors": "Ohta M, Seto M, Ijichi H, Miyabayashi K, Kudo Y, Mohri D, Asaoka Y, Tada M, Tanaka Y, Ikenoue T, Kanai F, Kawabe T, Omata M", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" } ], "reference": [ { "type": "PubMed", "id": "18992247", "url": "https://glygen.org/publication/PubMed/18992247" } ] }, { "title": "Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis.", "journal": "Cancer cell", "date": "2009", "authors": "McGillicuddy LT, Fromm JA, Hollstein PE, Kubek S, Beroukhim R, De Raedt T, Johnson BW, Williams SM, Nghiemphu P, Liau LM, Cloughesy TF, Mischel PS, Parret A, Seiler J, Moldenhauer G, Scheffzek K, Stemmer-Rachamimov AO, Sawyers CL, Brennan C, Messiaen L, Mellinghoff IK, Cichowski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "19573811", "url": "https://glygen.org/publication/PubMed/19573811" } ] }, { "title": "The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21.", "journal": "Cell", "date": "1990", "authors": "Martin GA, Viskochil D, Bollag G, McCabe PC, Crosier WJ, Haubruck H, Conroy L, Clark R, O'Connell P, Cawthon RM, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "2121370", "url": "https://glygen.org/publication/PubMed/2121370" } ] }, { "title": "A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.", "journal": "Genes & development", "date": "2012", "authors": "Stowe IB, Mercado EL, Stowe TR, Bell EL, Oses-Prieto JA, Hernandez H, Burlingame AL, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "22751498", "url": "https://glygen.org/publication/PubMed/22751498" } ] }, { "title": "SPRED proteins provide a NF-ty link to Ras suppression.", "journal": "Genes & development", "date": "2012", "authors": "McClatchey AI, Cichowski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "22802525", "url": "https://glygen.org/publication/PubMed/22802525" } ] }, { "title": "Nonredundant functions for Ras GTPase-activating proteins in tissue homeostasis.", "journal": "Science signaling", "date": "2013", "authors": "King PD, Lubeck BA, Lapinski PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "23443682", "url": "https://glygen.org/publication/PubMed/23443682" } ] }, { "title": "Identifying the Ubiquitin Ligase complex that regulates the NF1 tumor suppressor and Ras.", "journal": "Cancer discovery", "date": "2013", "authors": "Hollstein PE, Cichowski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "23661552", "url": "https://glygen.org/publication/PubMed/23661552" } ] }, { "title": "SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation.", "journal": "Journal of dermatological science", "date": "2013", "authors": "Yoo JC, Lim Ty, Park JS, Hah YS, Park N, Hong SG, Park JY, Yoon TJ", "evidence": [ { "database": "UniProtKB", "id": "O95294", "url": "https://www.uniprot.org/uniprot/O95294" } ], "reference": [ { "type": "PubMed", "id": "23999003", "url": "https://glygen.org/publication/PubMed/23999003" } ] }, { "title": "An expanding role for RAS GTPase activating proteins (RAS GAPs) in cancer.", "journal": "Advances in biological regulation", "date": "2014", "authors": "Maertens O, Cichowski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "24814062", "url": "https://glygen.org/publication/PubMed/24814062" } ] }, { "title": "Hypoxia-induced endothelial-mesenchymal transition is associated with RASAL1 promoter hypermethylation in human coronary endothelial cells.", "journal": "FEBS letters", "date": "2016", "authors": "Xu X, Tan X, Hulshoff MS, Wilhelmi T, Zeisberg M, Zeisberg EM", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" } ], "reference": [ { "type": "PubMed", "id": "27012941", "url": "https://glygen.org/publication/PubMed/27012941" } ] }, { "title": "Hypoxia-Induced Changes in DNA Methylation Alter RASAL1 and TGFbeta1 Expression in Human Trabecular Meshwork Cells.", "journal": "PloS one", "date": "2016", "authors": "McDonnell F, Irnaten M, Clark AF, O'Brien CJ, Wallace DM", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" } ], "reference": [ { "type": "PubMed", "id": "27124111", "url": "https://glygen.org/publication/PubMed/27124111" } ] }, { "title": "Long non-coding RNA TUC338 is functionally involved in sorafenib-sensitized hepatocarcinoma cells by targeting RASAL1.", "journal": "Oncology reports", "date": "2017", "authors": "Jin W, Chen L, Cai X, Zhang Y, Zhang J, Ma D, Cai X, Fu T, Yu Z, Yu F, Chen G", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" } ], "reference": [ { "type": "PubMed", "id": "27878301", "url": "https://glygen.org/publication/PubMed/27878301" } ] }, { "title": "Prognostic implications of RASAL1 expression in oesophagogastric adenocarcinoma.", "journal": "Journal of clinical pathology", "date": "2017", "authors": "Knief J, Reddemann K, Lazar-Karsten P, Herhahn T, Petrova E, Wellner U, Thorns C", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" } ], "reference": [ { "type": "PubMed", "id": "28011578", "url": "https://glygen.org/publication/PubMed/28011578" } ] }, { "title": "Domain topology of human Rasal.", "journal": "Biological chemistry", "date": "2017", "authors": "Cuellar J, Valpuesta JM, Wittinghofer A, Sot B", "evidence": [ { "database": "RefSeq", "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449" } ], "reference": [ { "type": "PubMed", "id": "28885980", "url": "https://glygen.org/publication/PubMed/28885980" } ] }, { "title": "Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells.", "journal": "Nature genetics", "date": "1996", "authors": "Bollag G, Clapp DW, Shih S, Adler F, Zhang YY, Thompson P, Lange BJ, Freedman MH, McCormick F, Jacks T, Shannon K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "8563751", "url": "https://glygen.org/publication/PubMed/8563751" } ] }, { "title": "The Ras-RasGAP complex: structural basis for GTPase activation and its loss in oncogenic Ras mutants.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Scheffzek K, Ahmadian MR, Kabsch W, Wiesmuller L, Lautwein A, Schmitz F, Wittinghofer A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5658442", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5658442" } ], "reference": [ { "type": "PubMed", "id": "9219684", "url": 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