{ "uniprot_canonical_ac": "O43516-1", "uniprot_ac": "O43516", "uniprot_id": "WIPF1_HUMAN", "mass": { "chemical_mass": 51258.0, "monoisotopic_mass": 51258.0 }, "refseq": { "ac": "NP_001070737", "name": "WAS/WASL-interacting protein family member 1 isoform a", "summary": "This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737" }, "gene_names": [ { "name": "WIPF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43516", "id": "O43516" }, { "name": "PRPL-2; WAS2; WASPIP; WIP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737", "id": "NP_001070737" }, { "name": "WASPIP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43516", "id": "O43516" }, { "name": "WIPF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737", "id": "NP_001070737" }, { "name": "WIP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43516", "id": "O43516" } ], "protein_names": [ { "name": "WAS/WASL-interacting protein family member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43516" }, { "name": "Protein PRPL-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43516" }, { "name": "WAS/WASL-interacting protein family member 1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737", "id": "NP_001070737" }, { "name": "WASP-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43516" }, { "name": "Wiskott-Aldrich syndrome protein interacting protein; protein PRPL-2; WASP-interacting protein; testicular tissue protein Li 226", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737", "id": "NP_001070737" }, { "name": "Wiskott-Aldrich syndrome protein-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43516" } ], "function": [ { "annotation": "Authors identified WIPF1 as an oncoprotein in PDAC and a direct target of miR-141/miR-200c. They also defined the miR-141/200c-WIPF1-YAP/TAZ as a novel signaling pathway that is involved in the regulation of the invasion and metastasis of human PDAC cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001070737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737" }, { "database": "PubMed", "id": "30041660", "url": "https://glygen.org/publication/PubMed/30041660" } ] }, { "annotation": "DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical Interneurons.", "evidence": [ { "database": "RefSeq", "id": "NP_001070737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737" }, { "database": "PubMed", "id": "32147726", "url": "https://glygen.org/publication/PubMed/32147726" } ] }, { "annotation": "PD-L1 promotes tumor growth and progression by activating WIP and beta-catenin signaling pathways and predicts poor prognosis in lung cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001070737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737" }, { "database": "PubMed", "id": "32632098", "url": "https://glygen.org/publication/PubMed/32632098" } ] }, { "annotation": "Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting in the disassembly of stress fibers in favor of filopodia formation. Plays a role in the formation of cell ruffles (By similarity). Plays an important role in the intracellular motility of vaccinia virus by functioning as an adapter for recruiting WASL to vaccinia virus.", "evidence": [ { "database": "UniProtKB", "id": "O43516", "url": "https://www.uniprot.org/uniprot/O43516#function" }, { "database": "PubMed", "id": "9405671", "url": "https://glygen.org/publication/PubMed/9405671" }, { "database": "PubMed", "id": "10878810", "url": "https://glygen.org/publication/PubMed/10878810" }, { "database": "PubMed", "id": "19910490", "url": "https://glygen.org/publication/PubMed/19910490" } ] }, { "annotation": "The Disordered Cellular Multi-Tasker WIP and Its Protein-Protein Interactions: A Structural View. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001070737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737" }, { "database": "PubMed", "id": "32708183", "url": "https://glygen.org/publication/PubMed/32708183" } ] }, { "annotation": "This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001070737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737" } ] } ], "disease": [ { "disease_id": "MONDO:0013779", "recommended_name": { "id": "MONDO:0013779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013779", "name": "Wiskott-Aldrich syndrome 2", "description": "Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene." }, "synonyms": [ { "id": "MONDO:0013779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013779", "name": "WIPF1 Wiskott-Aldrich syndrome", "description": "" }, { "id": "MONDO:0013779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013779", "name": "Wiskott-Aldrich syndrome 2", "description": "" }, { "id": "MONDO:0013779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013779", "name": "Wiskott-Aldrich syndrome caused by mutation in WIPF1", "description": "" }, { "id": "MONDO:0013779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013779", "name": "Wiskott-Aldrich syndrome type 2", "description": "" }, { "id": "MONDO:0013779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013779", "name": "WAS2", "description": "" }, { "id": "MONDO:0013779", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013779", "name": "Wipf1 deficiency", "description": "" }, { "id": "MIM:614493", "resource": "MIM", "url": "https://www.omim.org/entry/614493", "name": "Wiskott-Aldrich syndrome 2", "description": "Wiskott-Aldrich syndrome 2" } ], "evidence": [ { "id": "614493", "database": "MIM", "url": "https://www.omim.org/entry/614493" } ] } ], "snv": [ { "evidence": [ { "id": "rs772939228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772939228" }, { "id": "rs772939228", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772939228" }, { "id": "rs772939228", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772939228#frequency_tab" }, { "id": "rs772939228", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772939228" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 194, "end_pos": 194, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IQS->NQS).", "chr_id": "2", "chr_pos": "174572224", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43516", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43516" }, { "id": "rs778029521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778029521" }, { "id": "rs778029521", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778029521" }, { "id": "rs778029521", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778029521" }, { "id": "rs778029521", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778029521" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 227, "end_pos": 227, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NRG->NRS).", "chr_id": "2", "chr_pos": "174572126", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G227", "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1328018339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328018339" }, { "id": "rs1328018339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1328018339#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 291, "end_pos": 291, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNK->NNT).", "chr_id": "2", "chr_pos": "174571933", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375093864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375093864" }, { "id": "rs375093864", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375093864" }, { "id": "rs375093864", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375093864" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 292, "end_pos": 292, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "2", "chr_pos": "174571931", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43516", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43516" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 343, "end_pos": 343, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "174571777", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S343", "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": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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"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", 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": "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", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43516", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43516" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "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 tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "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", 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"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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43516", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43516" } ], "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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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43516", "url": "https://www.uniprot.org/uniprot/O43516" } ], "common_name": "Human" } ], "gene": [ { "name": "WIPF1", "url": "https://www.uniprot.org/uniprot/O43516", "locus": { "chromosome": "2", "start_pos": 174559572, "end_pos": 174682916, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000115935", "url": "https://www.ensembl.org/id/ENSG00000115935" } ] } } ], "crossref": [ { "id": "ENSG00000115935", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115935", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43516", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43516", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd22076", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22076", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "WIPF1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=WIPF1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "7456", "url": "https://www.ncbi.nlm.nih.gov/gene/7456", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "12736", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12736", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43516", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43516*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003124", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003124", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7456", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7456", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602357", "url": "http://www.omim.org/entry/602357", "database": "MIM", "categories": [ "Other" ] }, { "id": "614493", "url": "http://www.omim.org/entry/614493", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43516", "url": "https://www.nextprot.org/entry/NX_O43516", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43516", "url": "https://oglcnac.org/atlas/detail/O43516", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O43516", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43516", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "EPQRSRM", "url": "https://omabrowser.org/oma/group/EPQRSRM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5324507at2759", "url": "http://www.orthodb.org/?query=5324507at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR48226", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48226", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48226:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48226:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2A41", "url": "https://www.rcsb.org/structure/2A41", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02205", "url": "http://pfam.xfam.org/family/PF02205", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43516", "url": "https://pharos.nih.gov/targets/O43516", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43516", "url": "http://purl.obolibrary.org/obo/PR_O43516", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5663213", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663213", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013148", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013148", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9664422", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664422", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001070737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070737", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A8V8TNJ8", "url": "https://www.uniprot.org/uniprot/A0A8V8TNJ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNJ8-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TNJ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JB04", "url": "https://www.uniprot.org/uniprot/C9JB04", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JB04-1", "url": "https://www.uniprot.org/uniprot/C9JB04-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JTB9", "url": "https://www.uniprot.org/uniprot/C9JTB9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JTB9-1", "url": "https://www.uniprot.org/uniprot/C9JTB9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PB87", "url": "https://www.uniprot.org/uniprot/E9PB87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PB87-1", "url": "https://www.uniprot.org/uniprot/E9PB87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43516", "url": "https://www.uniprot.org/uniprot/O43516", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43516-1", "url": "https://www.uniprot.org/uniprot/O43516-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43516-2", "url": "https://www.uniprot.org/uniprot/O43516-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43516-3", "url": "https://www.uniprot.org/uniprot/O43516-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43516-4", "url": "https://www.uniprot.org/uniprot/O43516-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSGPPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPLSSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPPLPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQLPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPPSTSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLARNESRSGSNRRERGAPPLPPIPR", "length": 503, "header": "sp|O43516-1|WIPF1_HUMAN Isoform 1 of WAS/WASL-interacting protein family member 1 OS=Homo sapiens OX=9606 GN=WIPF1 PE=1 SV=3 CANONICAL=O43516-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TNJ8-1", "url": "", "sequence": { "sequence": "MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSGPPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPLSSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPPLPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLARNESRSGSNRRERGAPPLPPIPR", "length": 432, "header": "tr|A0A8V8TNJ8-1|WIPF1_HUMAN Computationally mapped isoform of WAS/WASL-interacting protein family member 1 OS=Homo sapiens OX=9606 GN=WIPF1 PE=1 SV=1 CANONICAL=O43516-1" }, "locus": { "chromosome": "2", "start_pos": 174585573, "end_pos": 174562550, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698667.1", "url": "https://www.ensembl.org/id/ENST00000698667.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513868.1", "url": "https://www.ensembl.org/id/ENSP00000513868.1" } ] } }, { "isoform_ac": "C9JB04-1", "url": "", "sequence": { "sequence": "MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDRAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG", "length": 157, "header": "tr|C9JB04-1|WIPF1_HUMAN Computationally mapped isoform of WAS/WASL-interacting protein family member 1 OS=Homo sapiens OX=9606 GN=WIPF1 PE=1 SV=1 CANONICAL=O43516-1" }, "locus": { "chromosome": "2", "start_pos": 174585573, "end_pos": 174572325, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455428.5", "url": "https://www.ensembl.org/id/ENST00000455428.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391785.1", "url": "https://www.ensembl.org/id/ENSP00000391785.1" } ] } }, { "isoform_ac": "C9JTB9-1", "url": "", "sequence": { "sequence": "MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPG", "length": 99, "header": "tr|C9JTB9-1|WIPF1_HUMAN Computationally mapped isoform of WAS/WASL-interacting protein family member 1 OS=Homo sapiens OX=9606 GN=WIPF1 PE=1 SV=8 CANONICAL=O43516-1" }, "locus": { "chromosome": "2", "start_pos": 174585573, "end_pos": 174562550, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436221.1", "url": "https://www.ensembl.org/id/ENST00000436221.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000388454.1", "url": "https://www.ensembl.org/id/ENSP00000388454.1" } ] } }, { "isoform_ac": "E9PB87-1", "url": "", "sequence": { "sequence": "MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSGPPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPLSSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPPLPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGMTRRGVSCFQNPACPNVPIILSVKIV", "length": 403, "header": "tr|E9PB87-1|WIPF1_HUMAN Computationally mapped isoform of WAS/WASL-interacting protein family member 1 OS=Homo sapiens OX=9606 GN=WIPF1 PE=1 SV=1 CANONICAL=O43516-1" }, "locus": { "chromosome": "2", "start_pos": 174585573, "end_pos": 174571596, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409415.7", "url": "https://www.ensembl.org/id/ENST00000409415.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000387150.3", "url": "https://www.ensembl.org/id/ENSP00000387150.3" } ] } }, { "isoform_ac": "O43516-1", "url": "", "sequence": { "sequence": "MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSGPPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPLSSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPPLPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQLPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPPSTSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLARNESRSGSNRRERGAPPLPPIPR", "length": 503, "header": "sp|O43516-1|WIPF1_HUMAN Isoform 1 of WAS/WASL-interacting protein family member 1 OS=Homo sapiens OX=9606 GN=WIPF1 PE=1 SV=3 CANONICAL=O43516-1" }, "locus": { "chromosome": "2", "start_pos": 174585573, "end_pos": 174562550, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359761.7", "url": "https://www.ensembl.org/id/ENST00000359761.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000352802.3", "url": "https://www.ensembl.org/id/ENSP00000352802.3" } ] } }, { "isoform_ac": "O43516-2", "url": "", "sequence": { "sequence": "MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSGPPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPLSSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPPLPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQLPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPPSTSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLARNESRSEYFCQGF", "length": 493, "header": "sp|O43516-2|WIPF1_HUMAN Isoform 2 of WAS/WASL-interacting protein family member 1 OS=Homo sapiens OX=9606 GN=WIPF1 PE=1 SV=3 CANONICAL=O43516-1" }, "locus": { "chromosome": "2", "start_pos": 174585573, "end_pos": 174567047, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409891.5", "url": "https://www.ensembl.org/id/ENST00000409891.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000386431.1", "url": "https://www.ensembl.org/id/ENSP00000386431.1" } ] } }, { "isoform_ac": "O43516-3", "url": "", "sequence": { "sequence": "MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSGPPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPLSSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPPLPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQLPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPPSTSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLARNESRSGSNRRERGAPPLPPIPRPPKQAAE", "length": 510, "header": "sp|O43516-3|WIPF1_HUMAN Isoform 3 of WAS/WASL-interacting protein family member 1 OS=Homo sapiens OX=9606 GN=WIPF1 PE=1 SV=3 CANONICAL=O43516-1" }, "locus": { "chromosome": "2", "start_pos": 174585573, "end_pos": 174562104, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000272746.9", "url": "https://www.ensembl.org/id/ENST00000272746.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000272746.5", "url": "https://www.ensembl.org/id/ENSP00000272746.5" } ] } }, { "isoform_ac": "O43516-4", "url": "", "sequence": { "sequence": "MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSGPPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQLPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPPSTSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLARNESRSGSNRRERGAPPLPPIPR", "length": 358, "header": "sp|O43516-4|WIPF1_HUMAN Isoform 4 of WAS/WASL-interacting protein family member 1 OS=Homo sapiens OX=9606 GN=WIPF1 PE=1 SV=3 CANONICAL=O43516-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", 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that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.", "journal": "J. Immunol.", "date": "1999", "authors": "Stewart D M, Tian L, Nelson D L", "evidence": [ { "database": "UniProtKB", "id": "O43516", "url": "https://www.uniprot.org/uniprot/O43516" } ], "reference": [ { "type": "PubMed", "id": "10202051", "url": "https://glygen.org/publication/PubMed/10202051" } ] }, { "title": "The interaction between N-WASP and the Arp2/3 complex links Cdc42-dependent signals to actin assembly.", "journal": "Cell", "date": "1999", "authors": "Rohatgi R, Ma L, Miki H, Lopez M, Kirchhausen T, Takenawa T, Kirschner MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "10219243", "url": "https://glygen.org/publication/PubMed/10219243" } ] }, { "title": "Expression, purification and crystallization of a BH domain from the GTPase regulatory protein associated with focal adhesion kinase.", "journal": "Acta crystallographica. 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TC10 GTPase-interacting proteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Joberty G, Perlungher RR, Macara IG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10490598", "url": "https://glygen.org/publication/PubMed/10490598" } ] }, { "title": "Localization of p21-activated kinase 1 (PAK1) to pseudopodia, membrane ruffles, and phagocytic cups in activated human neutrophils.", "journal": "Journal of leukocyte biology", "date": "1999", "authors": "Dharmawardhane S, Brownson D, Lennartz M, Bokoch GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "10496324", "url": "https://glygen.org/publication/PubMed/10496324" } ] }, { "title": "Sema3A-induced growth-cone collapse is mediated by Rac1 amino acids 17-32.", "journal": "Current biology : CB", "date": "1999", "authors": "Vastrik I, Eickholt BJ, Walsh FS, Ridley A, Doherty P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10508610", "url": "https://glygen.org/publication/PubMed/10508610" } ] }, { "title": "Dependence of Dbl and Dbs transformation on MEK and NF-kappaB activation.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Whitehead IP, Lambert QT, Glaven JA, Abe K, Rossman KL, Mahon GM, Trzaskos JM, Kay R, Campbell SL, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10523665", "url": "https://glygen.org/publication/PubMed/10523665" } ] }, { "title": "Biological and regulatory properties of Vav-3, a new member of the Vav family of oncoproteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Movilla N, Bustelo XR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10523675", "url": "https://glygen.org/publication/PubMed/10523675" } ] }, { "title": "Rho-specific binding and guanine nucleotide exchange catalysis by KIAA0380, a dbl family member.", "journal": "FEBS letters", "date": "1999", "authors": "Rumenapp U, Blomquist A, Schworer G, Schablowski H, Psoma A, Jakobs KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10526156", "url": "https://glygen.org/publication/PubMed/10526156" } ] }, { "title": "Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Reid T, Bathoorn A, Ahmadian MR, Collard JG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10559246", "url": "https://glygen.org/publication/PubMed/10559246" } ] }, { "title": "Activation of LIM-kinase by Pak1 couples Rac/Cdc42 GTPase signalling to actin cytoskeletal dynamics.", "journal": "Nature cell biology", "date": "1999", "authors": "Edwards DC, Sanders LC, Bokoch GM, Gill GN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "10559936", "url": "https://glygen.org/publication/PubMed/10559936" } ] }, { "title": "Human ECT2 is an exchange factor for Rho GTPases, phosphorylated in G2/M phases, and involved in cytokinesis.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Tatsumoto T, Xie X, Blumenthal R, Okamoto I, Miki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10579713", "url": "https://glygen.org/publication/PubMed/10579713" } ] }, { "title": "Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA.", "journal": "Human molecular genetics", "date": "2000", "authors": "Prakash SK, Paylor R, Jenna S, Lamarche-Vane N, Armstrong DL, Xu B, Mancini MA, Zoghbi HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10699171", "url": "https://glygen.org/publication/PubMed/10699171" } ] }, { "title": "Molecular cloning and characterization of a novel human STE20-like kinase, hSLK.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Yamada E, Tsujikawa K, Itoh S, Kameda Y, Kohama Y, Yamamoto H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10699464", "url": "https://glygen.org/publication/PubMed/10699464" } ] }, { "title": "Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein.", "journal": "Nature", "date": "2000", "authors": "Kim AS, Kakalis LT, Abdul-Manan N, Liu GA, Rosen MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "10724160", "url": "https://glygen.org/publication/PubMed/10724160" } ] }, { "title": "GRB2 links signaling to actin assembly by enhancing interaction of neural Wiskott-Aldrich syndrome protein (N-WASp) with actin-related protein (ARP2/3) complex.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Carlier MF, Nioche P, Broutin-L'Hermite I, Boujemaa R, Le Clainche C, Egile C, Garbay C, Ducruix A, Sansonetti P, Pantaloni D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "10781580", "url": "https://glygen.org/publication/PubMed/10781580" } ] }, { "title": "A human homolog of the C. elegans polarity determinant Par-6 links Rac and Cdc42 to PKCzeta signaling and cell transformation.", "journal": "Current biology : CB", "date": "2000", "authors": "Qiu RG, Abo A, Steven Martin G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10873802", "url": "https://glygen.org/publication/PubMed/10873802" } ] }, { "title": "A complex of N-WASP and WIP integrates signalling cascades that lead to actin polymerization.", "journal": "Nature cell biology", "date": "2000", "authors": "Moreau V, Frischknecht F, Reckmann I, Vincentelli R, Rabut G, Stewart D, Way M", "evidence": [ { "database": "UniProtKB", "id": "O43516", "url": "https://www.uniprot.org/uniprot/O43516" }, { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "10878810", "url": "https://glygen.org/publication/PubMed/10878810" } ] }, { "title": "FRL, a novel formin-related protein, binds to Rac and regulates cell motility and survival of macrophages.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Yayoshi-Yamamoto S, Taniuchi I, Watanabe T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10958683", "url": "https://glygen.org/publication/PubMed/10958683" } ] }, { "title": "Activation by Cdc42 and PIP(2) of Wiskott-Aldrich syndrome protein (WASp) stimulates actin nucleation by Arp2/3 complex.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Higgs HN, Pollard TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "10995437", "url": "https://glygen.org/publication/PubMed/10995437" } ] }, { "title": "Structural basis for relief of autoinhibition of the Dbl homology domain of proto-oncogene Vav by tyrosine phosphorylation.", "journal": "Cell", "date": "2000", "authors": "Aghazadeh B, Lowry WE, Huang XY, Rosen MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "11007481", "url": "https://glygen.org/publication/PubMed/11007481" } ] }, { "title": "Characterization of p190RhoGEF, a RhoA-specific guanine nucleotide exchange factor that interacts with microtubules.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "van Horck FP, Ahmadian MR, Haeusler LC, Moolenaar WH, Kranenburg O", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "11058585", "url": "https://glygen.org/publication/PubMed/11058585" } ] }, { "title": "Identification and characterization of a novel Rho-specific guanine nucleotide exchange factor.", "journal": "The Biochemical journal", "date": "2000", "authors": "Blomquist A, Schworer G, Schablowski H, Psoma A, Lehnen M, Jakobs KH, Rumenapp U", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "11085924", "url": "https://glygen.org/publication/PubMed/11085924" } ] }, { "title": "Differential localization of Rho GTPases in live cells: regulation by hypervariable regions and RhoGDI binding.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Michaelson D, Silletti J, Murphy G, D'Eustachio P, Rush M, Philips MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013148", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013148" } ], "reference": [ { "type": "PubMed", "id": "11149925", "url": "https://glygen.org/publication/PubMed/11149925" } ] }, { "title": "A novel neural Wiskott-Aldrich syndrome protein (N-WASP) binding protein, WISH, induces Arp2/3 complex activation independent of Cdc42.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Fukuoka M, Suetsugu S, Miki H, Fukami K, Endo T, Takenawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "11157975", "url": "https://glygen.org/publication/PubMed/11157975" } ] }, { "title": "The Arp2/3 complex nucleates actin filament branches from the sides of pre-existing filaments.", "journal": "Nature cell biology", "date": "2001", "authors": "Amann KJ, Pollard TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "11231582", "url": "https://glygen.org/publication/PubMed/11231582" } ] }, { "title": "Phosphorylation of cofilin by LIM-kinase is necessary for semaphorin 3A-induced growth cone collapse.", "journal": "Nature neuroscience", "date": "2001", "authors": "Aizawa H, Wakatsuki S, Ishii A, Moriyama K, Sasaki Y, Ohashi K, Sekine-Aizawa Y, Sehara-Fujisawa A, Mizuno K, Goshima Y, Yahara I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "11276226", "url": "https://glygen.org/publication/PubMed/11276226" } ] }, { "title": "The mechanism of 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Identification of a non-cytosolic GDI protein interacting with the small GTP-binding proteins RhoB and RhoG.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Zalcman G, Closson V, Camonis J, Honore N, Rousseau-Merck MF, Tavitian A, Olofsson B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "8939998", "url": "https://glygen.org/publication/PubMed/8939998" } ] }, { "title": "Functional and physical interactions of Syk family kinases with the Vav proto-oncogene product.", "journal": "Immunity", "date": "1996", "authors": "Deckert M, Tartare-Deckert S, Couture C, Mustelin T, Altman A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2029482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2029482" } ], "reference": [ { "type": "PubMed", "id": "8986718", "url": "https://glygen.org/publication/PubMed/8986718" } ] }, { "title": "Phosphotyrosine-dependent activation of Rac-1 GDP/GTP exchange by the vav proto-oncogene product.", "journal": "Nature", "date": "1997", "authors": "Crespo P, Schuebel KE, Ostrom AA, Gutkind JS, Bustelo XR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "8990121", "url": "https://glygen.org/publication/PubMed/8990121" } ] }, { "title": "Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases.", "journal": "Current biology : CB", "date": "1996", "authors": "Olson MF, Pasteris NG, Gorski JL, Hall A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "8994827", "url": "https://glygen.org/publication/PubMed/8994827" } ] }, { "title": "Characterization of two alternately spliced forms of phospholipase D1. 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wiskott-aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Ramesh N, Anton IM, Hartwig JH, Geha RS", "evidence": [ { "database": "UniProtKB", "id": "O43516", "url": "https://www.uniprot.org/uniprot/O43516" }, { "database": "Reactome", "id": "R-HSA-9013148", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013148" } ], "reference": [ { "type": "PubMed", "id": "9405671", "url": "https://glygen.org/publication/PubMed/9405671" } ] }, { "title": "Coupling of Ras and Rac guanosine triphosphatases through the Ras exchanger Sos.", "journal": "Science (New York, N.Y.)", "date": "1998", "authors": "Nimnual AS, Yatsula BA, Bar-Sagi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "9438849", "url": 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