{ "uniprot_canonical_ac": "P09327-1", "uniprot_ac": "P09327", "uniprot_id": "VILI_HUMAN", "mass": { "chemical_mass": 92695.0, "monoisotopic_mass": 92695.0 }, "refseq": { "ac": "NP_009058", "name": "villin-1", "summary": "This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058" }, "gene_names": [ { "name": "VIL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09327", "id": "P09327" }, { "name": "D2S1471; VIL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058", "id": "NP_009058" }, { "name": "VIL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058", "id": "NP_009058" }, { "name": "VIL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09327", "id": "P09327" } ], "protein_names": [ { "name": "Villin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09327" }, { "name": "villin-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058", "id": "NP_009058" } ], "function": [ { "annotation": "Epithelial cell-specific Ca(2+)-regulated actin-modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds phosphatidylinositol 4,5-bisphosphate (PIP2) and lysophosphatidic acid (LPA); binds LPA with higher affinity than PIP2. Binding to LPA increases its phosphorylation by SRC and inhibits all actin-modifying activities. Binding to PIP2 inhibits actin-capping and -severing activities but enhances actin-bundling activity. Regulates the intestinal epithelial cell morphology, cell invasion, cell migration and apoptosis. Protects against apoptosis induced by dextran sodium sulfate (DSS) in the gastrointestinal epithelium. Appears to regulate cell death by maintaining mitochondrial integrity. Enhances hepatocyte growth factor (HGF)-induced epithelial cell motility, chemotaxis and wound repair. Upon S.flexneri cell infection, its actin-severing activity enhances actin-based motility of the bacteria and plays a role during the dissemination.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327#function" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "15342783", "url": "https://glygen.org/publication/PubMed/15342783" }, { "database": "PubMed", "id": "17182858", "url": "https://glygen.org/publication/PubMed/17182858" }, { "database": "PubMed", "id": "15084600", "url": "https://glygen.org/publication/PubMed/15084600" }, { "database": "PubMed", "id": "14594952", "url": "https://glygen.org/publication/PubMed/14594952" }, { "database": "PubMed", "id": "15272027", "url": "https://glygen.org/publication/PubMed/15272027" }, { "database": "PubMed", "id": "11500485", "url": "https://glygen.org/publication/PubMed/11500485" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" }, { "database": "PubMed", "id": "19808673", "url": "https://glygen.org/publication/PubMed/19808673" }, { "database": "PubMed", "id": "17606613", "url": "https://glygen.org/publication/PubMed/17606613" }, { "database": "PubMed", "id": "18198174", "url": "https://glygen.org/publication/PubMed/18198174" }, { "database": "PubMed", "id": "3087992", "url": "https://glygen.org/publication/PubMed/3087992" } ] }, { "annotation": "F-actin-bundling sites are conserved in proteins with villin-type headpiece domains.", "evidence": [ { "database": "RefSeq", "id": "NP_009058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058" }, { "database": "PubMed", "id": "32520642", "url": "https://glygen.org/publication/PubMed/32520642" } ] }, { "annotation": "Induction of cell stress alters the actin cytoskeleton in intestinal epithelial cells via changes in the actin-binding proteins villin-1 and gelsolin.", "evidence": [ { "database": "RefSeq", "id": "NP_009058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058" }, { "database": "PubMed", "id": "29274870", "url": "https://glygen.org/publication/PubMed/29274870" } ] }, { "annotation": "This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_009058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058" } ] }, { "annotation": "Transcriptome analysis uncovers the diagnostic value of miR-192-5p/HNF1A-AS1/VIL1 panel in cervical adenocarcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_009058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058" }, { "database": "PubMed", "id": "33024199", "url": "https://glygen.org/publication/PubMed/33024199" } ] }, { "annotation": "Villin has a higher positive expression in Primary Pulmonary Enteric Adenocarcinoma cases. Villin proved to be a very sensitive and helpful enteric marker in the differential diagnosis between PEAC and other lung adenocarcinomas.", "evidence": [ { "database": "RefSeq", "id": "NP_009058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058" }, { "database": "PubMed", "id": "28953659", "url": "https://glygen.org/publication/PubMed/28953659" } ] }, { "annotation": "Villin, Pro-Ex-C and progesterone/estrogen receptor expression have diagnostic and predictive roles in endocervical and endometrioid adenocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_009058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058" }, { "database": "PubMed", "id": "28832070", "url": "https://glygen.org/publication/PubMed/28832070" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1177002421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177002421" }, { "id": "rs1177002421", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1177002421#frequency_tab" }, { "id": "rs1177002421", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177002421" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 348, "end_pos": 348, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KWT->NWT).", "chr_id": "2", "chr_pos": "218430820", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1002461479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1002461479" }, { "id": "rs1002461479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1002461479" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 376, "end_pos": 376, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "2", "chr_pos": "218431880", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D376", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P09327", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09327" } ], "glycoeffect": [], "start_pos": 445, "end_pos": 445, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "218432175", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V445", "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": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"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, 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"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": "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" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1485843276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485843276" }, { "id": "rs1485843276", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1485843276" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 528, "end_pos": 528, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNI).", "chr_id": "2", "chr_pos": "218434608", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T528", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1345698927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1345698927" }, { "id": "rs1345698927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1345698927" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 543, "end_pos": 543, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "2", "chr_pos": "218434653", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N543", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1200691766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200691766" }, { "id": "rs1200691766", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1200691766" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 57, "end_pos": 57, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "2", "chr_pos": "218425634", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S57", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771278453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771278453" }, { "id": "rs771278453", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771278453" }, { "id": "rs771278453", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771278453#frequency_tab" }, { "id": "rs771278453", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771278453" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 720, "end_pos": 720, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNT->NNT).", "chr_id": "2", "chr_pos": "218437311", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S720", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764181067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764181067" }, { "id": "rs764181067", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764181067" }, { "id": "rs764181067", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764181067" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 736, "end_pos": 736, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSR->NST).", "chr_id": "2", "chr_pos": "218438704", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R736", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355676275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355676275" }, { "id": "rs1355676275", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355676275" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 758, "end_pos": 758, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NST).", "chr_id": "2", "chr_pos": "218440765", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N758", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1485393441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485393441" }, { "id": "rs1485393441", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1485393441" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 821, "end_pos": 821, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLK->NLT).", "chr_id": "2", "chr_pos": "218449314", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K821", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 125, "end_pos": 129, "sequence_org": "GMKHV", "sequence_mut": "AMHKTS", "comment": "Inhibits actin-severing activity and motility of the S.flexneri, does not inhibit activities regarding actin nucleation, actin capping and actin bundling, lamellipodium or ruffle localization and cell morphology; when associated with 86-N--E-91.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "17182858", "url": "https://glygen.org/publication/PubMed/17182858" } ] }, { "start_pos": 138, "end_pos": 138, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces binding to PIP2.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "14594952", "url": "https://glygen.org/publication/PubMed/14594952" } ] }, { "start_pos": 145, "end_pos": 145, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not reduce binding to PIP2.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "14594952", "url": "https://glygen.org/publication/PubMed/14594952" } ] }, { "start_pos": 146, "end_pos": 146, "sequence_org": "R", "sequence_mut": "A", "comment": "Does not reduce binding to PIP2.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "14594952", "url": "https://glygen.org/publication/PubMed/14594952" } ] }, { "start_pos": 256, "end_pos": 256, "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduces activities regarding actin nucleation and actin severing, lamellipodium or ruffle localization and cell migration. Complete loss of phosphorylation and interaction with PLCG1, does not reduce lamellipodium or ruffle localization, inhibits cell migration; when associated with F-46; F-60; F-81; F-286; F-324; F-461; F-555; F-604 and F-725. Inhibits lamellipodia localization but does not reduce interaction with PLCG1; when associated with F-46; F-60 and F-81.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "12269817", "url": "https://glygen.org/publication/PubMed/12269817" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "15342783", "url": "https://glygen.org/publication/PubMed/15342783" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "start_pos": 25, "end_pos": 25, "sequence_org": "E", "sequence_mut": "Q", "comment": "Inhibits activities regarding actin capping, actin severing and actin bundling.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "15272027", "url": "https://glygen.org/publication/PubMed/15272027" } ] }, { "start_pos": 286, "end_pos": 286, "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduces actin-severing activity and interaction with PLCG1. Complete loss of phosphorylation and interaction with PLCG1, does not reduce lamellipodium or ruffle localization, inhibits cell migration; when associated with F-46; F-60; F-81; F-256; F-324; F-461; F-555; F-604 and F-725. Inhibits interaction with PLCG1 and lamellipodia localization; when associated with F-324; F-461; F-555; F-604 and F-725.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "start_pos": 324, "end_pos": 324, "sequence_org": "Y", "sequence_mut": "F", "comment": "Complete loss of phosphorylation and interaction with PLCG1, does not reduce lamellipodium or ruffle localization, inhibits cell migration; when associated with F-46; F-60; F-81; F-256; F-286; F-461; F-555; F-604 and F-725. Inhibits interaction with PLCG1 and lamellipodia localization; when associated with F-286; F-461; F-555; F-604 and F-725.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "start_pos": 44, "end_pos": 44, "sequence_org": "D", "sequence_mut": "L", "comment": "Inhibits activities regarding actin capping and actin severing.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "15272027", "url": "https://glygen.org/publication/PubMed/15272027" } ] }, { "start_pos": 461, "end_pos": 461, "sequence_org": "Y", "sequence_mut": "F", "comment": "Complete loss of phosphorylation and interaction with PLCG1, does not reduce lamellipodium or ruffle localization, inhibits cell migration; when associated with F-46; F-60; F-81; F-256; F-286; F-324; F-555; F-604 and F-725. Inhibits interaction with PLCG1 and lamellipodia localization; when associated with F-286; F-324; F-555; F-604 and F-725.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "start_pos": 467, "end_pos": 467, "sequence_org": "D", "sequence_mut": "L", "comment": "Reduces the Ca(2+)-dependent actin-severing activity.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "15084600", "url": "https://glygen.org/publication/PubMed/15084600" } ] }, { "start_pos": 46, "end_pos": 46, "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduces activities regarding actin capping and actin severing. Does not reduce lamellipodium or ruffle localization and cell migration. Complete loss of phosphorylation and interaction with PLCG1, does not reduce lamellipodium or ruffle localization, inhibits cell migration; when associated with F-60; F-81; F-256; F-286; F-324; F-461; F-555; F-604 and F-725. Inhibits lamellipodia localization but does not reduce interaction with PLCG1; when associated with F-60; F-81 and F-256.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "12269817", "url": "https://glygen.org/publication/PubMed/12269817" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "15342783", "url": "https://glygen.org/publication/PubMed/15342783" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "start_pos": 555, "end_pos": 555, "sequence_org": "Y", "sequence_mut": "F", "comment": "Complete loss of phosphorylation and interaction with PLCG1, does not reduce lamellipodium or ruffle localization, inhibits cell migration; when associated with F-46; F-60; F-81; F-256; F-286; F-324; F-461; F-604 and F-725. Inhibits interaction with PLCG1 and lamellipodia localization; when associated with F-286; F-324; F-461; F-604 and F-725.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "start_pos": 604, "end_pos": 604, "sequence_org": "Y", "sequence_mut": "F", "comment": "Complete loss of phosphorylation and interaction with PLCG1, does not reduce lamellipodium or ruffle localization, inhibits cell migration; when associated with F-46; F-60; F-81; F-256; F-286; F-324; F-461; F-555 and F-725. Inhibits interaction with PLCG1 and lamellipodia localization; when associated with F-286; F-324; F-461; F-555 and F-725.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "start_pos": 60, "end_pos": 60, "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduces activities regarding actin capping and actin severing, lamellipodium or ruffle localization and cell migration. Complete loss of phosphorylation and interaction with PLCG1, does not reduce lamellipodium or ruffle localization, inhibits cell migration; when associated with F-46; F-81; F-256; F-286; F-324; F-461; F-555; F-604 and F-725. Inhibits lamellipodia localization but does not reduce interaction with PLCG1; when associated with F-46; F-81 and F-256.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "12269817", "url": "https://glygen.org/publication/PubMed/12269817" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "15342783", "url": "https://glygen.org/publication/PubMed/15342783" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "start_pos": 61, "end_pos": 61, "sequence_org": "D", "sequence_mut": "N", "comment": "Inhibits actin-severing activity. Does not inhibit actin-nucleation and actin-capping activities.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "17182858", "url": "https://glygen.org/publication/PubMed/17182858" }, { "database": "PubMed", "id": "15272027", "url": "https://glygen.org/publication/PubMed/15272027" } ] }, { "start_pos": 715, "end_pos": 715, "sequence_org": "D", "sequence_mut": "L", "comment": "Reduces the Ca(2+)-dependent actin-severing activity.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "15084600", "url": "https://glygen.org/publication/PubMed/15084600" } ] }, { "start_pos": 725, "end_pos": 725, "sequence_org": "Y", "sequence_mut": "F", "comment": "Complete loss of phosphorylation and interaction with PLCG1, does not reduce lamellipodium or ruffle localization, inhibits cell migration; when associated with F-46; F-60; F-81; F-256; F-286; F-324; F-461; F-555 and F-604. Inhibits interaction with PLCG1 and lamellipodia localization; when associated with F-286; F-324; F-461; F-555 and F-604.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "start_pos": 74, "end_pos": 74, "sequence_org": "E", "sequence_mut": "L", "comment": "Inhibits activities regarding actin capping and actin severing.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "17182858", "url": "https://glygen.org/publication/PubMed/17182858" }, { "database": "PubMed", "id": "15272027", "url": "https://glygen.org/publication/PubMed/15272027" } ] }, { "start_pos": 815, "end_pos": 815, "sequence_org": "W", "sequence_mut": "A", "comment": "Reduces interaction with F-actin.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "15096633", "url": "https://glygen.org/publication/PubMed/15096633" } ] }, { "start_pos": 81, "end_pos": 81, "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduces activities regarding actin nucleating and actin severing, lamellipodium or ruffle localization and cell migration. Complete loss of phosphorylation and interaction with PLCG1, does not reduce lamellipodium or ruffle localization, inhibits cell migration; when associated with F-46; F-60; F-256; F-286; F-324; F-461; F-555; F-604 and F-725. Inhibits lamellipodia localization but does not reduce interaction with PLCG1; when associated with F-46; F-60 and F-256.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "12269817", "url": "https://glygen.org/publication/PubMed/12269817" }, { "database": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" }, { "database": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" }, { "database": "PubMed", "id": "15342783", "url": "https://glygen.org/publication/PubMed/15342783" }, { "database": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "start_pos": 822, "end_pos": 822, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not reduce binding to PIP2.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "14594952", "url": "https://glygen.org/publication/PubMed/14594952" } ] }, { "start_pos": 824, "end_pos": 824, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not reduce binding to PIP2.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "14594952", "url": "https://glygen.org/publication/PubMed/14594952" } ] }, { "start_pos": 86, "end_pos": 86, "sequence_org": "D", "sequence_mut": "L", "comment": "Inhibits actin-severing activity. Does not inhibit actin-capping activity.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "15272027", "url": "https://glygen.org/publication/PubMed/15272027" } ] }, { "start_pos": 86, "end_pos": 91, "sequence_org": "DDFLKG", "sequence_mut": "NTLLKE", "comment": "Inhibits actin-severing activity and motility of the S.flexneri, does not inhibit activities regarding actin nucleation, actin capping and actin bundling, lamellipodium or ruffle localization and cell morphology; when associated with 125-A--S-129.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "17182858", "url": "https://glygen.org/publication/PubMed/17182858" } ] }, { "start_pos": 93, "end_pos": 93, "sequence_org": "A", "sequence_mut": "G", "comment": "Inhibits actin-severing activity. Does not inhibit actin-capping activity.", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "15272027", "url": "https://glygen.org/publication/PubMed/15272027" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000127831", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127831" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "54.34", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000127831", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127831" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09327" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P09327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09327" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"B4DV78-1", "url": "", "sequence": { "sequence": "MSHALNFIKAKQYPPSTQVEVQNDGAESAVFQQLFQKWTASNRTSGLGKTHTVGSVAKVEQVKFDATSMHVKPQVAAQQKMVDDGSGEVQVWRIENLELVPVDSKWLGHFYGGDCYLLLYTYLIGEKQHYLLYVWQGSQASQDEITASAYQAVILDQKYNGEPVQIRVPMGKEPPHLMSIFKGRMVVYQGGTSRTNNLETGPSTRLFQVQGTGANNTKAFEVPARANFLNSNDVFVLKTQSCCYLWCGKGCSGDEREMAKMVADTISRTEKQVVVEGQEPANFWMALGGKAPYANTKRLQEENLVITPRLFECSNKTGRFLATEIPDFNQDDLEEDDVFLLDVWDQVFFWIGKHANEEEKKAAATTAQEYLKTHPSGRDPETPIIVVKQGHEPPTFTGWFLAWDPFKWSNTKSYEDLKAELGNSRDWSQITAEVTSPKVDVFNANSNLSSGPLPIFPLEQLVNKPVEELPEGVDPSRKEEHLSIEDFTQAFGMTPAAFSALPRWKQQNLKKEKGLF", "length": 516, "header": "tr|B4DV78-1|VILI_HUMAN Computationally mapped isoform of Villin-1 OS=Homo sapiens OX=9606 GN=VIL1 PE=1 SV=1 CANONICAL=P09327-1" }, "locus": { "chromosome": "2", "start_pos": 218449333, "end_pos": 218429933, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392114.6", "url": "https://www.ensembl.org/id/ENST00000392114.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000375962.2", "url": "https://www.ensembl.org/id/ENSP00000375962.2" } ] } }, { "isoform_ac": "C9J2B5-1", "url": "", "sequence": { "sequence": "MTKLSAQVKGSLNITTPGLQIWRIEAMQMVPVPSSTFGSFFDGDCYIILAIHKTASSLSYDIHYWIGQDSSLDEQGAAAIYTTQMDDFLKGRAVQHREVQGNESEAFRGYFKIRKGGVASGMKHVETNSYDVQRLLHVKGKRNVVAGEVEMSWKSFN", "length": 157, "header": "tr|C9J2B5-1|VILI_HUMAN Computationally mapped isoform of Villin-1 OS=Homo sapiens OX=9606 GN=VIL1 PE=1 SV=8 CANONICAL=P09327-1" }, "locus": { "chromosome": "2", "start_pos": 218428253, "end_pos": 218423779, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454069.5", "url": "https://www.ensembl.org/id/ENST00000454069.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000412657.1", "url": "https://www.ensembl.org/id/ENSP00000412657.1" } ] } }, { "isoform_ac": "H7C0B6-1", "url": "", "sequence": { "sequence": "GAERKGGGLGLRLGLQGSQASQDEITASAYQAVILDQKYNGEPVQIRVPMGKEPPHLMSIFKGRMVVYQGGTSRTNNLETGPSTRLFQVQGTGANNTKAFEVPARANFLNSNDVFVLKTQSCCYLWCGKGCSGDEREMAKMVADTISRTEKQVVVEGQEPANFWMALGGKAPYANTKRLQEENLVITPRLFECSNKTGRFLATEIPDFNQDDL", "length": 213, "header": "tr|H7C0B6-1|VILI_HUMAN Computationally mapped isoform of Villin-1 OS=Homo sapiens OX=9606 GN=VIL1 PE=1 SV=1 CANONICAL=P09327-1" }, "locus": { "chromosome": "2", "start_pos": 218436587, "end_pos": 218432515, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000419986.1", "url": "https://www.ensembl.org/id/ENST00000419986.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000394030.1", "url": "https://www.ensembl.org/id/ENSP00000394030.1" } ] } }, { "isoform_ac": "P09327-1", "url": "", "sequence": { "sequence": "MTKLSAQVKGSLNITTPGLQIWRIEAMQMVPVPSSTFGSFFDGDCYIILAIHKTASSLSYDIHYWIGQDSSLDEQGAAAIYTTQMDDFLKGRAVQHREVQGNESEAFRGYFKQGLVIRKGGVASGMKHVETNSYDVQRLLHVKGKRNVVAGEVEMSWKSFNRGDVFLLDLGKLIIQWNGPESTRMERLRGMTLAKEIRDQERGGRTYVGVVDGENELASPKLMEVMNHVLGKRRELKAAVPDTVVEPALKAALKLYHVSDSEGNLVVREVATRPLTQDLLSHEDCYILDQGGLKIYVWKGKKANEQEKKGAMSHALNFIKAKQYPPSTQVEVQNDGAESAVFQQLFQKWTASNRTSGLGKTHTVGSVAKVEQVKFDATSMHVKPQVAAQQKMVDDGSGEVQVWRIENLELVPVDSKWLGHFYGGDCYLLLYTYLIGEKQHYLLYVWQGSQASQDEITASAYQAVILDQKYNGEPVQIRVPMGKEPPHLMSIFKGRMVVYQGGTSRTNNLETGPSTRLFQVQGTGANNTKAFEVPARANFLNSNDVFVLKTQSCCYLWCGKGCSGDEREMAKMVADTISRTEKQVVVEGQEPANFWMALGGKAPYANTKRLQEENLVITPRLFECSNKTGRFLATEIPDFNQDDLEEDDVFLLDVWDQVFFWIGKHANEEEKKAAATTAQEYLKTHPSGRDPETPIIVVKQGHEPPTFTGWFLAWDPFKWSNTKSYEDLKAELGNSRDWSQITAEVTSPKVDVFNANSNLSSGPLPIFPLEQLVNKPVEELPEGVDPSRKEEHLSIEDFTQAFGMTPAAFSALPRWKQQNLKKEKGLF", "length": 827, "header": "sp|P09327-1|VILI_HUMAN Isoform 1 of Villin-1 OS=Homo sapiens OX=9606 GN=VIL1 PE=1 SV=4 CANONICAL=P09327-1" }, "locus": { "chromosome": "2", "start_pos": 218449333, "end_pos": 218423779, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000248444.10", "url": "https://www.ensembl.org/id/ENST00000248444.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000248444.5", "url": "https://www.ensembl.org/id/ENSP00000248444.5" } ] } }, { "isoform_ac": "P09327-2", "url": "", "sequence": { "sequence": "MTKLSAQVKGSLNITTPGLQIWRIEAMQMVPVPSSTFGSFFDGDCYIILAIHKTASSLSYDIHYWIGQDSSLDEQGAAAIYTTQMDDFLKGRAVQHREVQGNESEAFRGYFKQGLVIRKGGVASGMKHVETNSYDVQRLLHVKGKRNVVAGEVEMSWKSFNRGDVFLLDLGKLIIQWNGPESTRMERLRGMTLAKEIRDQERGGRTYVGVVDGENELASPKLMEVMNHVLGKRRELKAAVPDTVVEPALKAALKLYHVSDSEGNLVVREVATRPLTQDLLSHEDCYILDQGGLKIYVWKGKKANEQEKKGAMSHALNFIKAKQYPPSTQVEVQNDGAESAVFQQLFQKWTASNRTSGLGKTHTVGSVGEGQAGAVREPGSRSWARRATWSTTHPPSLTCIFNEDFYAGSGLVLADGDVDKL", "length": 421, "header": "sp|P09327-2|VILI_HUMAN Isoform 2 of Villin-1 OS=Homo sapiens OX=9606 GN=VIL1 PE=1 SV=4 CANONICAL=P09327-1" }, "locus": { "chromosome": "2", "start_pos": 218431039, "end_pos": 218423779, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440053.1", "url": "https://www.ensembl.org/id/ENST00000440053.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000409270.1", "url": "https://www.ensembl.org/id/ENSP00000409270.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "1893", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1893" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39619TI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "1893", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1893" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G46524LG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "1893", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1893" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "1893", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1893" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G65092SV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "1893", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1893" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G78790NZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 526, "start_aa": "Asn", "end_pos": 526, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn526", "evidence": [ { "id": "1893", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1893" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P09327", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09327" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] } ], "phosphorylation": [ { "start_pos": 256, "end_pos": 256, "kinase_uniprot_canonical_ac": "P12931-1", "kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327" }, { "database": "PubMed", "id": "15342783", "url": "https://glygen.org/publication/PubMed/15342783" }, { "database": "PubMed", "id": "12269817", "url": "https://glygen.org/publication/PubMed/12269817" }, { "database": "PubMed", "id": "18482983", "url": "https://glygen.org/publication/PubMed/18482983" } ], "site_lbl": "Tyr256" }, { "start_pos": 366, "end_pos": 366, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P09327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327" } ], "site_lbl": "Ser366" }, { "start_pos": 46, "end_pos": 46, "kinase_uniprot_canonical_ac": "P12931-1", "kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327" }, { "database": "PubMed", "id": "12269817", "url": "https://glygen.org/publication/PubMed/12269817" }, { "database": "PubMed", "id": "18482983", "url": "https://glygen.org/publication/PubMed/18482983" } ], "site_lbl": "Tyr46" }, { "start_pos": 60, "end_pos": 60, "kinase_uniprot_canonical_ac": "P12931-1", "kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327" }, { "database": "PubMed", "id": "15342783", "url": "https://glygen.org/publication/PubMed/15342783" }, { "database": "PubMed", "id": "12269817", "url": "https://glygen.org/publication/PubMed/12269817" }, { "database": "PubMed", "id": "18482983", "url": "https://glygen.org/publication/PubMed/18482983" } ], "site_lbl": "Tyr60" }, { "start_pos": 60, "end_pos": 60, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P09327", "url": "http://phospho.elm.eu.org/byAccession/P09327.html" }, { "database": "iPTMnet", "id": "P09327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327" }, { "database": "PubMed", "id": "15342783", "url": "https://glygen.org/publication/PubMed/15342783" } ], "site_lbl": "Tyr60" }, { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "P12931-1", "kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327" }, { "database": "PubMed", "id": "12269817", "url": "https://glygen.org/publication/PubMed/12269817" }, { "database": "PubMed", "id": "18482983", "url": "https://glygen.org/publication/PubMed/18482983" } ], "site_lbl": "Tyr64" }, { "start_pos": 735, "end_pos": 735, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "site_lbl": "Ser735" }, { "start_pos": 81, "end_pos": 81, "kinase_uniprot_canonical_ac": "P12931-1", "kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327" }, { "database": "PubMed", "id": "15342783", "url": "https://glygen.org/publication/PubMed/15342783" }, { "database": "PubMed", "id": "12269817", "url": "https://glygen.org/publication/PubMed/12269817" }, { "database": "PubMed", "id": "18482983", "url": "https://glygen.org/publication/PubMed/18482983" } ], "site_lbl": "Tyr81" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Tyrosine phosphorylation of villin regulates the organization of the actin cytoskeleton.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Zhai L, Zhao P, Panebra A, Guerrerio AL, Khurana S", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "11500485", "url": "https://glygen.org/publication/PubMed/11500485" } ] }, { "title": "Regulation of actin dynamics by tyrosine phosphorylation: identification of tyrosine phosphorylation sites within the actin-severing domain of villin.", "journal": "Biochemistry", "date": "2002", "authors": "Zhai L, Kumar N, Panebra A, Zhao P, Parrill AL, Khurana S", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "iPTMnet", "id": "P09327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327" } ], "reference": [ { "type": "PubMed", "id": "12269817", "url": "https://glygen.org/publication/PubMed/12269817" } ] }, { "title": "Abnormalities in villin gene expression and canalicular microvillus structure in progressive cholestatic liver disease of childhood.", "journal": "Lancet", "date": "2003", "authors": "Phillips M James, Azuma Toshifumi, Meredith Sheue-Lim M, Squire Jeremy A, Ackerley Cameron A, Pluthero Fred G, Roberts Eve A, Superina Riccardo A, Levy Gary A, Marsden Philip A", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "14550699", "url": "https://glygen.org/publication/PubMed/14550699" } ] }, { "title": "Association of villin with phosphatidylinositol 4,5-bisphosphate regulates the actin cytoskeleton.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kumar N, Zhao P, Tomar A, Galea CA, Khurana S", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "14594952", "url": "https://glygen.org/publication/PubMed/14594952" } ] }, { "title": "Identification of a functional switch for actin severing by cytoskeletal proteins.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kumar N, Khurana S", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "15084600", "url": "https://glygen.org/publication/PubMed/15084600" } ] }, { "title": "Solution structures of the C-terminal headpiece subdomains of human villin and advillin, evaluation of headpiece F-actin-binding requirements.", "journal": "Protein science : a publication of the Protein Society", "date": "2004", "authors": "Vermeulen W, Vanhaesebrouck P, Van Troys M, Verschueren M, Fant F, Goethals M, Ampe C, Martins JC, Borremans FA", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "15096633", "url": "https://glygen.org/publication/PubMed/15096633" } ] }, { "title": "Functional dissection and molecular characterization of calcium-sensitive actin-capping and actin-depolymerizing sites in villin.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kumar N, Tomar A, Parrill AL, Khurana S", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "15272027", "url": "https://glygen.org/publication/PubMed/15272027" } ] }, { "title": "Regulation of cell motility by tyrosine phosphorylated villin.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Tomar A, Wang Y, Kumar N, George S, Ceacareanu B, Hassid A, Chapman KE, Aryal AM, Waters CM, Khurana S", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "iPTMnet", "id": "P09327-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327-1" } ], "reference": [ { "type": "PubMed", "id": "15342783", "url": "https://glygen.org/publication/PubMed/15342783" } ] }, { "title": "Interaction of phospholipase C-gamma1 with villin regulates epithelial cell migration.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Tomar A, George S, Kansal P, Wang Y, Khurana S", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "16921170", "url": "https://glygen.org/publication/PubMed/16921170" } ] }, { "title": "Villin severing activity enhances actin-based motility in vivo.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Revenu C, Courtois M, Michelot A, Sykes C, Louvard D, Robine S", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "17182858", "url": "https://glygen.org/publication/PubMed/17182858" } ] }, { "title": "Obligatory role for phospholipase C-gamma(1) in villin-induced epithelial cell migration.", "journal": "American journal of physiology. Cell physiology", "date": "2007", "authors": "Wang Y, Tomar A, George SP, Khurana S", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "17229814", "url": "https://glygen.org/publication/PubMed/17229814" } ] }, { "title": "Dimerization and actin-bundling properties of villin and its role in the assembly of epithelial cell brush borders.", "journal": "The Journal of biological chemistry", "date": "2007-09-07", "authors": "George Sudeep P, Wang Yaohong, Mathew Sijo, Srinivasan Kamalakkannan, Khurana Seema", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "17606613", "url": "https://glygen.org/publication/PubMed/17606613" } ] }, { "title": "Autotaxin and lysophosphatidic acid stimulate intestinal cell motility by redistribution of the actin modifying protein villin to the developing lamellipodia.", "journal": "Experimental cell research", "date": "2008", "authors": "Khurana S, Tomar A, George SP, Wang Y, Siddiqui MR, Guo H, Tigyi G, Mathew S", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "18054784", "url": "https://glygen.org/publication/PubMed/18054784" } ] }, { "title": "A novel role for villin in intestinal epithelial cell survival and homeostasis.", "journal": "The Journal of biological chemistry", "date": "2008-04-04", "authors": "Wang Yaohong, Srinivasan Kamalakkannan, Siddiqui Mohammad Rizwan, George Sudeep P, Tomar Alok, Khurana Seema", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "18198174", "url": "https://glygen.org/publication/PubMed/18198174" } ] }, { "title": "Potential molecular mechanism for c-Src kinase-mediated regulation of intestinal cell migration.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Mathew S, George SP, Wang Y, Siddiqui MR, Srinivasan K, Tan L, Khurana S", "evidence": [ { "database": "iPTMnet", "id": "P09327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327" } ], "reference": [ { "type": "PubMed", "id": "18482983", "url": "https://glygen.org/publication/PubMed/18482983" } ] }, { "title": "Helix straightening as an activation mechanism in the gelsolin superfamily of actin regulatory proteins.", "journal": "J. Biol. Chem.", "date": "2009", "authors": "Wang Hui, Chumnarnsilpa Sakesit, Loonchanta Anantasak, Li Qiang, Kuan Yang-Mei, Robine Sylvie, Larsson M\u00e5rten, Mihalek Ivana, Burtnick Leslie D, Robinson Robert C", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "19491107", "url": "https://glygen.org/publication/PubMed/19491107" } ] }, { "title": "Differential effects of lysophosphatidic acid and phosphatidylinositol 4,5-bisphosphate on actin dynamics by direct association with the actin-binding protein villin.", "journal": "The Journal of biological chemistry", "date": "2009-12-18", "authors": "Tomar Alok, George Sudeep P, Mathew Sijo, Khurana Seema", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "19808673", "url": "https://glygen.org/publication/PubMed/19808673" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" }, { "database": "iPTMnet", "id": "P09327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09327" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09327", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09327" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "Sequence of human villin: a large duplicated domain homologous with other actin-severing proteins and a unique small carboxy-terminal domain related to villin specificity.", "journal": "J. Cell Biol.", "date": "1988", "authors": "Arpin M, Pringault E, Finidori J, Garcia A, Jeltsch JM, Vandekerckhove J, Louvard D", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "2846586", "url": "https://glygen.org/publication/PubMed/2846586" } ] }, { "title": "Panel of Villin, Pro-Ex-C, Estrogen Receptor and Progesterone Receptor Expressions Could Help in Differentiation Between Endocervical and Endometrioid Adenocarcinoma.", "journal": "Turk patoloji dergisi", "date": "2017", "authors": "Elfeky M, Harb O, Gertallah L", "evidence": [ { "database": "RefSeq", "id": "NP_009058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058" } ], "reference": [ { "type": "PubMed", "id": "28832070", "url": "https://glygen.org/publication/PubMed/28832070" } ] }, { "title": "Clinicopathological, radiographic, and oncogenic features of primary pulmonary enteric adenocarcinoma in comparison with 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Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1893", "url": "https://glyconnect.expasy.org/browser/proteins/1893" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09327", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09327" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09327", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09327" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Different calcium dependence of the capping and cutting activities of villin.", "journal": "The Journal of biological chemistry", "date": "1986-07-15", "authors": "Northrop J, Weber A, Mooseker M S, Franzini-Armstrong C, Bishop M F, Dubyak G R, Tucker M, Walsh T P", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "3087992", "url": "https://glygen.org/publication/PubMed/3087992" } ] }, { "title": "F-actin-bundling sites are conserved in proteins with villin-type headpiece domains.", "journal": "Molecular biology of the cell", "date": "2020", "authors": "George SP, Esmaeilniakooshkghazi A, Roy S, Khurana S", "evidence": [ { "database": "RefSeq", "id": "NP_009058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058" } ], "reference": [ { "type": "PubMed", "id": "32520642", "url": "https://glygen.org/publication/PubMed/32520642" } ] }, { "title": "Transcriptome analysis uncovers the diagnostic value of miR-192-5p/HNF1A-AS1/VIL1 panel in cervical adenocarcinoma.", "journal": "Scientific reports", "date": "2020", "authors": "Xu J, Zou J, Wu L, Lu W", "evidence": [ { "database": "RefSeq", "id": "NP_009058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009058" } ], "reference": [ { "type": "PubMed", "id": "33024199", "url": "https://glygen.org/publication/PubMed/33024199" } ] }, { "title": "A human villin cDNA clone to investigate the differentiation of intestinal and kidney cells in vivo and in culture.", "journal": "EMBO J.", "date": "1986", "authors": "Pringault E, Arpin M, Garcia A, Finidori J, Louvard D", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "reference": [ { "type": "PubMed", "id": "3453110", "url": "https://glygen.org/publication/PubMed/3453110" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", 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"pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": 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"pmid": "" }, { "name": "positive regulation of actin filament bundle assembly", "id": "GO:0032233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032233", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "cytoplasmic actin-based contraction involved in cell motility", "id": "GO:0060327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060327", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "regulation of wound healing", "id": "GO:0061041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061041", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "regulation of actin nucleation", "id": "GO:0051125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051125", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "intestinal D-glucose absorption", "id": "GO:0001951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001951", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "terminal web assembly", "id": "GO:1902896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902896", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "barbed-end actin filament capping", "id": "GO:0051016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051016", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "actin polymerization or depolymerization", "id": "GO:0008154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008154", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "actin filament severing", "id": "GO:0051014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051014", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "actin filament capping", "id": "GO:0051693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051693", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium morphogenesis", "id": "GO:2000394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000394", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "regulation of lamellipodium morphogenesis", "id": "GO:2000392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000392", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "regulation of microvillus length", "id": "GO:0032532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032532", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "cellular response to hepatocyte growth factor stimulus", "id": "GO:0035729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035729", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "actin filament depolymerization", "id": "GO:0030042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030042", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "positive regulation of actin filament depolymerization", "id": "GO:0030836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030836", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P09327", "url": "https://www.uniprot.org/uniprot/P09327" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 102, "end_pos": 104, "annotation": "n_glycosylation_sequon" }, { "start_pos": 13, "end_pos": 15, "annotation": "n_glycosylation_sequon" }, { "start_pos": 353, "end_pos": 355, "annotation": "n_glycosylation_sequon" }, { "start_pos": 526, "end_pos": 528, "annotation": "n_glycosylation_sequon" }, { "start_pos": 626, "end_pos": 628, "annotation": "n_glycosylation_sequon" }, { "start_pos": 758, "end_pos": 760, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Tyrosine phosphorylation is induced by epidermal growth factor (EGF) and stimulates cell migration (By similarity). Phosphorylated on tyrosine residues by SRC. The unphosphorylated form increases the initial rate of actin-nucleating activity, whereas the tyrosine-phosphorylated form inhibits actin-nucleating activity, enhances actin-bundling activity and enhances actin-severing activity by reducing high Ca(2+) requirements. The tyrosine-phosphorylated form does not regulate actin-capping activity. 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