{ "uniprot_canonical_ac": "O15211-1", "uniprot_ac": "O15211", "uniprot_id": "RGL2_HUMAN", "mass": { "chemical_mass": 83549.0, "monoisotopic_mass": 83549.0 }, "refseq": { "ac": "NP_001230667", "name": "ral guanine nucleotide dissociation stimulator-like 2 isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230667" }, "gene_names": [ { "name": "RGL2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15211", "id": "O15211" }, { "name": "HKE1.5; KE1.5; RAB2L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230667", "id": "NP_001230667" }, { "name": "RAB2L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15211", "id": "O15211" }, { "name": "RGL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230667", "id": "NP_001230667" } ], "protein_names": [ { "name": "Ral guanine nucleotide dissociation stimulator-like 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15211" }, { "name": "GDS-related protein; ralGDS-like factor; ras-associated protein RAB2L; ralGDS-like 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230667", "id": "NP_001230667" }, { "name": "RalGDS-like 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15211" }, { "name": "RalGDS-like factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15211" }, { "name": "Ras-associated protein RAB2L", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15211" }, { "name": "ral guanine nucleotide dissociation stimulator-like 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230667", "id": "NP_001230667" } ], "function": [ { "annotation": "Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O15211", "url": "https://www.uniprot.org/uniprot/O15211#function" } ] }, { "annotation": "SAMD9, an IFN-gamma-responsive protein, interacts with RGL2 to diminish the expression of EGR1, a protein of direct relevance to the pathogenesis of ectopic calcification and inflammation.", "evidence": [ { "database": "RefSeq", "id": "NP_001230667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230667" }, { "database": "PubMed", "id": "21160498", "url": "https://glygen.org/publication/PubMed/21160498" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "90.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "86.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "92.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "87.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000237441", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000237441" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15211", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15211" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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": 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"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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15211" } ], "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": [ { 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"MLPRPLRLLLDTSPPGGVVLSSFRSRDPEEGGGPGGLVVGGGQEEEEEEEEEAPVSVWDEEEDGAVFTVTSRQYRPLDPLVPMPPPRSSRRLRAGTLEALVRHLLDTRTSGTDVSFMSAFLATHRAFTSTPALLGLMADRLEALESHPTDELERTTEVAISVLSTWLASHPEDFGSEAKGQLDRLESFLLQTGYAAGKGVGGGSADLIRNLRSRVDPQAPDLPKPLALPGDPPADPTDVLVFLADHLAEQLTLLDAELFLNLIPSQCLGGLWGHRDRPGHSHLCPSVRATVTQFNKVAGAVVSSVLGATSTGEGPGEVTIRPLRPPQRARLLEKWIRVAEECRLLRNFSSVYAVVSALQSSPIHRLRAAWGEATRDSLRVFSSLCQIFSEEDNYSQSRELLVQEVKLQSPLEPHSKKAPRSGSRGGGVVPYLGTFLKDLVMLDAASKDELENGYINFDKRRKEFAVLSELRRLQNECRGYNLQPDHDIQRWLQGLRPLTEAQSHRVSCEVEPPGSSDPPAPRVLRPTLVISQWTEVLGSVGVPTPLVSCDRPSTGGDEAPTTPAPLLTRLAQHMKWPSVSSLDSALESSPSLHSPADPSHLSPPASSPRPSRGHRRSASCGSPLSGGAEEASGGTGYGGEGSGPGASDCRIIRVQMELGEDGSVYKSILVTSQDKAPSVISRVLKKNNRDSAVASEYELVQLLPGERELTIPASANVFYAMDGASHDFLLRQRRRSSTATPGVTSGPSASGTPPSEGGGGSFPRIKATGRKIARALF", "length": 777, "header": "sp|O15211-1|RGL2_HUMAN Isoform 1 of Ral guanine nucleotide dissociation stimulator-like 2 OS=Homo sapiens OX=9606 GN=RGL2 PE=1 SV=1 CANONICAL=O15211-1" }, "isoforms": [ { "isoform_ac": "A2AB89-1", "url": "", "sequence": { "sequence": "MLPRPLRLLLDTSPPGGVVLSSFRSRDPEEGGGPGGLVVGGGQEEEEEEEEEAPVSVWDEEEDGAVFTVTSRQYRPLDPLVPMPPPRSSRRLRAGTLEALVRHLLDTRTSGTDVSFMSAFLATHRAFTSTPALLGLMADRLEALES", "length": 146, "header": "tr|A2AB89-1|A2AB89_HUMAN Computationally mapped isoform of Ral guanine nucleotide dissociation stimulator-like 2 OS=Homo sapiens OX=9606 GN=RGL2 PE=1 SV=1 CANONICAL=O15211-1" }, "locus": { "chromosome": "6", "start_pos": 33298610, "end_pos": 33296446, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425946.1", "url": "https://www.ensembl.org/id/ENST00000425946.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000392918.1", "url": "https://www.ensembl.org/id/ENSP00000392918.1" } ] } }, { "isoform_ac": "O15211-1", "url": "", "sequence": { "sequence": "MLPRPLRLLLDTSPPGGVVLSSFRSRDPEEGGGPGGLVVGGGQEEEEEEEEEAPVSVWDEEEDGAVFTVTSRQYRPLDPLVPMPPPRSSRRLRAGTLEALVRHLLDTRTSGTDVSFMSAFLATHRAFTSTPALLGLMADRLEALESHPTDELERTTEVAISVLSTWLASHPEDFGSEAKGQLDRLESFLLQTGYAAGKGVGGGSADLIRNLRSRVDPQAPDLPKPLALPGDPPADPTDVLVFLADHLAEQLTLLDAELFLNLIPSQCLGGLWGHRDRPGHSHLCPSVRATVTQFNKVAGAVVSSVLGATSTGEGPGEVTIRPLRPPQRARLLEKWIRVAEECRLLRNFSSVYAVVSALQSSPIHRLRAAWGEATRDSLRVFSSLCQIFSEEDNYSQSRELLVQEVKLQSPLEPHSKKAPRSGSRGGGVVPYLGTFLKDLVMLDAASKDELENGYINFDKRRKEFAVLSELRRLQNECRGYNLQPDHDIQRWLQGLRPLTEAQSHRVSCEVEPPGSSDPPAPRVLRPTLVISQWTEVLGSVGVPTPLVSCDRPSTGGDEAPTTPAPLLTRLAQHMKWPSVSSLDSALESSPSLHSPADPSHLSPPASSPRPSRGHRRSASCGSPLSGGAEEASGGTGYGGEGSGPGASDCRIIRVQMELGEDGSVYKSILVTSQDKAPSVISRVLKKNNRDSAVASEYELVQLLPGERELTIPASANVFYAMDGASHDFLLRQRRRSSTATPGVTSGPSASGTPPSEGGGGSFPRIKATGRKIARALF", "length": 777, "header": "sp|O15211-1|RGL2_HUMAN Isoform 1 of Ral guanine nucleotide dissociation stimulator-like 2 OS=Homo sapiens OX=9606 GN=RGL2 PE=1 SV=1 CANONICAL=O15211-1" }, "locus": { "chromosome": "HSCHR6_MHC_MCF_CTG1", "start_pos": 4734546, "end_pos": 4728041, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416548.6", "url": "https://www.ensembl.org/id/ENST00000416548.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000412152.2", "url": "https://www.ensembl.org/id/ENSP00000412152.2" } ] } }, { "isoform_ac": "O15211-2", "url": "", "sequence": { "sequence": "MPPPRSSRRLRAGTLEALVRHLLDTRTSGTDVSFMSAFLATHRAFTSTPALLGLMADRLEALESHPTDELERTTEVAISVLSTWLASHPEDFGSEAKGQLDRLESFLLQTGYAAGKGVGGGSADLIRNLRSRVDPQAPDLPKPLALPGDPPADPTDVLVFLADHLAEQLTLLDAELFLNLIPSQCLGGLWGHRDRPGHSHLCPSVRATVTQFNKVAGAVVSSVLGATSTGEGPGEVTIRPLRPPQRARLLEKWIRVAEECRLLRNFSSVYAVVSALQSSPIHRLRAAWGEATRDSLRVFSSLCQIFSEEDNYSQSRELLVQEVKLQSPLEPHSKKAPRSGSRGGGVVPYLGTFLKDLVMLDAASKDELENGYINFDKRRKVSGVSGLDAGLPYPCSRKGRGKSQGSLSFGSCSLRAPSQEFAVLSELRRLQNECRGYNLQPDHDIQRWLQGLRPLTEAQS", "length": 460, "header": "sp|O15211-2|RGL2_HUMAN Isoform 2 of Ral guanine nucleotide dissociation stimulator-like 2 OS=Homo sapiens OX=9606 GN=RGL2 PE=1 SV=1 CANONICAL=O15211-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15211", "url": "https://www.uniprot.org/uniprot/O15211" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15211", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15211" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15211", "url": "http://phospho.elm.eu.org/byAccession/O15211.html" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Ser13" }, { "start_pos": 409, "end_pos": 409, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15211", "url": "https://www.uniprot.org/uniprot/O15211" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O15211", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15211" } ], "site_lbl": "Ser409" }, { "start_pos": 434, "end_pos": 434, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15211", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15211" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Thr434" }, { "start_pos": 446, "end_pos": 446, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15211", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15211" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser446" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Two co-existing mechanisms for nuclear import of MAP kinase: passive diffusion of a monomer and active transport of a dimer.", "journal": "The EMBO journal", "date": "1999", "authors": "Adachi M, Fukuda M, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "10508167", "url": "https://glygen.org/publication/PubMed/10508167" } ] }, { "title": "A novel RalGEF-like protein, RGL3, as a candidate effector for rit and Ras.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Shao H, Andres DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "10869344", "url": "https://glygen.org/publication/PubMed/10869344" } ] }, { "title": "Flt3 ligand induces tyrosine phosphorylation of gab1 and gab2 and their association with shp-2, grb2, and PI3 kinase.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Zhang S, Broxmeyer HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11027663", "url": "https://glygen.org/publication/PubMed/11027663" } ] }, { "title": "Flt3 mutations from patients with acute myeloid leukemia induce transformation of 32D cells mediated by the Ras and STAT5 pathways.", "journal": "Blood", "date": "2000", "authors": "Mizuki M, Fenski R, Halfter H, Matsumura I, Schmidt R, Muller C, Gruning W, Kratz-Albers K, Serve S, Steur C, Buchner T, Kienast J, Kanakura Y, Berdel WE, Serve H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11090077", "url": "https://glygen.org/publication/PubMed/11090077" } ] }, { "title": "Crystal structure and functional analysis of Ras binding to its effector phosphoinositide 3-kinase gamma.", "journal": "Cell", "date": "2000", "authors": "Pacold ME, Suire S, Perisic O, Lara-Gonzalez S, Davis CT, Walker EH, Hawkins PT, Stephens L, Eccleston JF, Williams RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11136978", "url": "https://glygen.org/publication/PubMed/11136978" } ] }, { "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": "O15211", "url": "https://www.uniprot.org/uniprot/O15211" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "A novel potential effector of M-Ras and p21 Ras negatively regulates p21 Ras-mediated gene induction and cell growth.", "journal": "Oncogene", "date": "2001", "authors": "Ehrhardt GR, Korherr C, Wieler JS, Knaus M, Schrader JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11313946", "url": "https://glygen.org/publication/PubMed/11313946" } ] }, { "title": "Evidence for existence of a nuclear pore complex-mediated, cytosol-independent pathway of nuclear translocation of ERK MAP kinase in permeabilized cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Matsubayashi Y, Fukuda M, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11546808", "url": "https://glygen.org/publication/PubMed/11546808" } ] }, { "title": "PEA-15 mediates cytoplasmic sequestration of ERK MAP kinase.", "journal": "Developmental cell", "date": "2001", "authors": "Formstecher E, Ramos JW, Fauquet M, Calderwood DA, Hsieh JC, Canton B, Nguyen XT, Barnier JV, Camonis J, Ginsberg MH, Chneiweiss H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11702783", "url": "https://glygen.org/publication/PubMed/11702783" } ] }, { "title": "ERK2 enters the nucleus by a carrier-independent mechanism.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Whitehurst AW, Wilsbacher JL, You Y, Luby-Phelps K, Moore MS, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12032311", "url": "https://glygen.org/publication/PubMed/12032311" } ] }, { "title": "The phosphatidylinositol 3-Kinase AKT pathway in human cancer.", "journal": "Nature reviews. Cancer", "date": "2002", "authors": "Vivanco I, Sawyers CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12094235", "url": "https://glygen.org/publication/PubMed/12094235" } ] }, { "title": "Activation of phosphoinositide 3-kinase gamma by Ras.", "journal": "Current biology : CB", "date": "2002", "authors": "Suire S, Hawkins P, Stephens L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12121613", "url": "https://glygen.org/publication/PubMed/12121613" } ] }, { "title": "PEA-15 binding to ERK1/2 MAPKs is required for its modulation of integrin activation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Chou FL, Hill JM, Hsieh JC, Pouyssegur J, Brunet A, Glading A, Uberall F, Ramos JW, Werner MH, Ginsberg MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "14506247", "url": "https://glygen.org/publication/PubMed/14506247" } ] }, { "title": "The death effector domain protein PEA-15 prevents nuclear entry of ERK2 by inhibiting required interactions.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Whitehurst AW, Robinson FL, Moore MS, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "14707138", "url": "https://glygen.org/publication/PubMed/14707138" } ] }, { "title": "Phosphorylation of Grb2-associated binder 2 on serine 623 by ERK MAPK regulates its association with the phosphatase SHP-2 and decreases STAT5 activation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Arnaud M, Crouin C, Deon C, Loyaux D, Bertoglio J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "15356145", "url": "https://glygen.org/publication/PubMed/15356145" } ] }, { "title": "Nuclear localization and regulation of erk- and rsk-encoded protein kinases.", "journal": "Molecular and cellular biology", "date": "1992", "authors": "Chen RH, Sarnecki C, Blenis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1545823", "url": "https://glygen.org/publication/PubMed/1545823" } ] }, { "title": "Live Cell Imaging of ERK and MEK: simple binding equilibrium explains the regulated nucleocytoplasmic distribution of ERK.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Burack WR, Shaw AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "15546878", "url": "https://glygen.org/publication/PubMed/15546878" } ] }, { "title": "Roles of tyrosine 589 and 591 in STAT5 activation and transformation mediated by FLT3-ITD.", "journal": "Blood", "date": "2006", "authors": "Rocnik JL, Okabe R, Yu JC, Lee BH, Giese N, Schenkein DP, Gilliland DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "16627759", "url": "https://glygen.org/publication/PubMed/16627759" } ] }, { "title": "Identification of Y589 and Y599 in the juxtamembrane domain of Flt3 as ligand-induced autophosphorylation sites involved in binding of Src family kinases and the protein tyrosine phosphatase SHP2.", "journal": "Blood", "date": "2006", "authors": "Heiss E, Masson K, Sundberg C, Pedersen M, Sun J, Bengtsson S, Ronnstrand L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "16684964", "url": "https://glygen.org/publication/PubMed/16684964" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nat. Biotechnol.", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "A2AB89", "url": "https://www.uniprot.org/uniprot/A2AB89" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Association of p21ras with phosphatidylinositol 3-kinase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Sjolander A, Yamamoto K, Huber BE, Lapetina EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1716764", "url": "https://glygen.org/publication/PubMed/1716764" } ] }, { "title": "Oncogenic signaling of class I PI3K isoforms.", "journal": "Oncogene", "date": "2008", "authors": "Denley A, Kang S, Karst U, Vogt PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "17998941", "url": "https://glygen.org/publication/PubMed/17998941" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O15211", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15211" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "O15211-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15211-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "Essential role of ERK dimers in the activation of cytoplasmic but not nuclear substrates by ERK-scaffold complexes.", "journal": "Molecular cell", "date": "2008", "authors": "Casar B, Pinto A, Crespo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "18775330", "url": "https://glygen.org/publication/PubMed/18775330" } ] }, { "title": "The GTPase superfamily: conserved structure and molecular mechanism.", "journal": "Nature", "date": "1991", "authors": "Bourne HR, Sanders DA, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1898771", "url": "https://glygen.org/publication/PubMed/1898771" } ] }, { "title": "ERK dimers and scaffold proteins: unexpected partners for a forgotten (cytoplasmic) task.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2009", "authors": "Casar B, Pinto A, Crespo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "19279408", "url": "https://glygen.org/publication/PubMed/19279408" } ] }, { "title": "ERK nuclear translocation is dimerization-independent but controlled by the rate of phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Lidke DS, Huang F, Post JN, Rieger B, Wilsbacher J, Thomas JL, Pouyssegur J, Jovin TM, Lenormand P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "19920141", "url": "https://glygen.org/publication/PubMed/19920141" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O15211-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15211-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "RalGDS family members couple Ras to Ral signalling and that's not all.", "journal": "Cellular signalling", "date": "2010", "authors": "Ferro E, Trabalzini L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "20478380", "url": "https://glygen.org/publication/PubMed/20478380" } ] }, { "title": "Ras superfamily GEFs and GAPs: validated and tractable targets for cancer therapy?", "journal": "Nature reviews. Cancer", "date": "2010", "authors": "Vigil D, Cherfils J, Rossman KL, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21102635", "url": "https://glygen.org/publication/PubMed/21102635" } ] }, { "title": "Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.", "journal": "J. Invest. Dermatol.", "date": "2011", "authors": "Hershkovitz D, Gross Y, Nahum S, Yehezkel S, Sarig O, Uitto J, Sprecher E", "evidence": [ { "database": "UniProtKB", "id": "O15211", "url": "https://www.uniprot.org/uniprot/O15211" }, { "database": "RefSeq", "id": "NP_001230667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230667" } ], "reference": [ { "type": "PubMed", "id": "21160498", "url": "https://glygen.org/publication/PubMed/21160498" } ] }, { "title": "Activation and function of the MAPKs and their substrates, the MAPK-activated protein kinases.", "journal": "Microbiology and molecular biology reviews : MMBR", "date": "2011", "authors": "Cargnello M, Roux PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21372320", "url": "https://glygen.org/publication/PubMed/21372320" } ] }, { "title": "RAS Interaction with PI3K: More Than Just Another Effector Pathway.", "journal": "Genes & cancer", "date": "2011", "authors": "Castellano E, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21779497", "url": "https://glygen.org/publication/PubMed/21779497" } ] }, { "title": "Therapeutic strategies for targeting ras proteins.", "journal": "Genes & cancer", "date": "2011", "authors": "Gysin S, Salt M, Young A, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21779505", "url": "https://glygen.org/publication/PubMed/21779505" } ] }, { "title": "RAS oncogenes: weaving a tumorigenic web.", "journal": "Nature reviews. Cancer", "date": "2011", "authors": "Pylayeva-Gupta Y, Grabocka E, Bar-Sagi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21993244", "url": "https://glygen.org/publication/PubMed/21993244" } ] }, { "title": "ERK1/2 MAP kinases: structure, function, and regulation.", "journal": "Pharmacological research", "date": "2012", "authors": "Roskoski R Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22569528", "url": "https://glygen.org/publication/PubMed/22569528" } ] }, { "title": "A comprehensive survey of Ras mutations in cancer.", "journal": "Cancer research", "date": "2012", "authors": "Prior IA, Lewis PD, Mattos C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22589270", "url": "https://glygen.org/publication/PubMed/22589270" } ] }, { "title": "Probing the GTPase cycle with real-time NMR: GAP and GEF activities in cell extracts.", "journal": "Methods (San Diego, Calif.)", "date": "2012", "authors": "Marshall CB, Meiri D, Smith MJ, Mazhab-Jafari MT, Gasmi-Seabrook GM, Rottapel R, Stambolic V, Ikura M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22750304", "url": "https://glygen.org/publication/PubMed/22750304" } ] }, { "title": "The protein tyrosine phosphatase, Shp2, positively contributes to FLT3-ITD-induced hematopoietic progenitor hyperproliferation and malignant disease in vivo.", "journal": "Leukemia", "date": "2013", "authors": "Nabinger SC, Li XJ, Ramdas B, He Y, Zhang X, Zeng L, Richine B, Bowling JD, Fukuda S, Goenka S, Liu Z, Feng GS, Yu M, Sandusky GE, Boswell HS, Zhang ZY, Kapur R, Chan RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23103841", "url": "https://glygen.org/publication/PubMed/23103841" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O15211", "url": "https://www.uniprot.org/uniprot/O15211" }, { "database": "iPTMnet", "id": "O15211", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15211" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Regulation of small GTPases by GEFs, GAPs, and GDIs.", "journal": "Physiological reviews", "date": "2013", "authors": "Cherfils J, Zeghouf M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23303910", "url": "https://glygen.org/publication/PubMed/23303910" } ] }, { "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-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23443682", "url": "https://glygen.org/publication/PubMed/23443682" } ] }, { "title": "Structure of ERK2 bound to PEA-15 reveals a mechanism for rapid release of activated MAPK.", "journal": "Nature communications", "date": "2013", "authors": "Mace PD, Wallez Y, Egger MF, Dobaczewska MK, Robinson H, Pasquale EB, Riedl SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23575685", "url": "https://glygen.org/publication/PubMed/23575685" } ] }, { "title": "PI3K/AKT signaling pathway and cancer: an updated review.", "journal": "Annals of medicine", "date": "2014", "authors": "Martini M, De Santis MC, Braccini L, Gulluni F, Hirsch E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "24897931", "url": "https://glygen.org/publication/PubMed/24897931" } ] }, { "title": "`RAF` neighborhood: protein-protein interaction in the Raf/Mek/Erk pathway.", "journal": "FEBS letters", "date": "2014", "authors": "Cseh B, Doma E, Baccarini M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "24937142", "url": "https://glygen.org/publication/PubMed/24937142" } ] }, { "title": "Ral small GTPase signaling and oncogenesis: More than just 15minutes of fame.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Gentry LR, Martin TD, Reiner DJ, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "25219551", "url": "https://glygen.org/publication/PubMed/25219551" } ] }, { "title": "Ras activation revisited: role of GEF and GAP systems.", "journal": "Biological chemistry", "date": "2015", "authors": "Hennig A, Markwart R, Esparza-Franco MA, Ladds G, Rubio I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "25781681", "url": "https://glygen.org/publication/PubMed/25781681" } ] }, { "title": "The Key Role of Calmodulin in KRAS-Driven Adenocarcinomas.", "journal": "Molecular cancer research : MCR", "date": "2015", "authors": "Nussinov R, Muratcioglu S, Tsai CJ, Jang H, Gursoy A, Keskin O", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "26085527", "url": "https://glygen.org/publication/PubMed/26085527" } ] }, { "title": "Targeting Ras with Macromolecules.", "journal": "Cold Spring Harbor perspectives in medicine", "date": "2018", "authors": "Pei D, Chen K, Liao H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "28778966", "url": "https://glygen.org/publication/PubMed/28778966" } ] }, { "title": "The structural basis for Ras activation of PI3Kalpha lipid kinase.", "journal": "Physical chemistry chemical physics : PCCP", "date": "2019", "authors": "Zhang M, Jang H, Nussinov R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "31135801", "url": "https://glygen.org/publication/PubMed/31135801" } ] }, { "title": "Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Gibbs JB, Sigal IS, Poe M, Scolnick EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "6148751", "url": "https://glygen.org/publication/PubMed/6148751" } ] }, { "title": "Identification of the guanine nucleotide dissociation stimulator for Ral as a putative effector molecule of 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(p45mapkk) in fibroblasts.", "journal": "The Journal of cell biology", "date": "1993", "authors": "Lenormand P, Sardet C, Pages G, L'Allemain G, Brunet A, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8394845", "url": "https://glygen.org/publication/PubMed/8394845" } ] }, { "title": "Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Chardin P, Camonis JH, Gale NW, van Aelst L, Schlessinger J, Wigler MH, Bar-Sagi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8493579", "url": "https://glygen.org/publication/PubMed/8493579" } ] }, { "title": "Activation of phosphoinositide 3-kinase by interaction with Ras and by point mutation.", "journal": "The EMBO journal", "date": "1996", "authors": "Rodriguez-Viciana P, Warne PH, Vanhaesebroeck B, Waterfield MD, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8665852", "url": "https://glygen.org/publication/PubMed/8665852" } ] }, { "title": "RalGDS-like factor (Rlf) is a novel Ras and Rap 1A-associating protein.", "journal": "Oncogene", "date": "1996", "authors": "Wolthuis RM, Bauer B, van 't Veer LJ, de Vries-Smits AM, Cool RH, Spaargaren M, Wittinghofer A, Burgering BM, Bos JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8710374", "url": "https://glygen.org/publication/PubMed/8710374" } ] }, { "title": "Identification of a novel RalGDS-related protein as a candidate effector for Ras and Rap1.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Peterson SN, Trabalzini L, Brtva TR, Fischer T, Altschuler DL, Martelli P, Lapetina EG, Der CJ, White GC 2nd", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8939933", "url": "https://glygen.org/publication/PubMed/8939933" } ] }, { "title": "Isolation and mapping of RAB2L, a human cDNA that encodes a protein homologous to RalGDS.", "journal": "Cytogenet. 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