{ "uniprot_canonical_ac": "O43707-1", "uniprot_ac": "O43707", "uniprot_id": "ACTN4_HUMAN", "mass": { "chemical_mass": 104854.0, "monoisotopic_mass": 104854.0 }, "refseq": { "ac": "NP_004915", "name": "alpha-actinin-4 isoform 1", "summary": "Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" }, "gene_names": [ { "name": "ACTN4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43707", "id": "O43707" }, { "name": "ACTININ-4; FSGS; FSGS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915", "id": "NP_004915" }, { "name": "ACTN4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915", "id": "NP_004915" }, { "name": "hCG_1996371", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43707", "id": "O43707" } ], "protein_names": [ { "name": "Alpha-actinin-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43707" }, { "name": "Non-muscle alpha-actinin 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43707" }, { "name": "alpha-actinin-4 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915", "id": "NP_004915" }, { "name": "focal segmental glomerulosclerosis 1; non-muscle alpha-actinin 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915", "id": "NP_004915" } ], "function": [ { "annotation": "Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" } ] }, { "annotation": "Alpha-actnin-4 (ACTN4) selectively affects the DNA double-strand breaks repair in non-small lung carcinoma cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" }, { "database": "PubMed", "id": "36476259", "url": "https://glygen.org/publication/PubMed/36476259" } ] }, { "annotation": "Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children.", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" }, { "database": "PubMed", "id": "37014572", "url": "https://glygen.org/publication/PubMed/37014572" } ] }, { "annotation": "F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778).", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707#function" }, { "database": "UniProtKB", "id": "P57780", "url": "https://www.uniprot.org/uniprot/P57780#function" }, { "database": "PubMed", "id": "9508771", "url": "https://glygen.org/publication/PubMed/9508771" }, { "database": "PubMed", "id": "15772161", "url": "https://glygen.org/publication/PubMed/15772161" }, { "database": "PubMed", "id": "22351778", "url": "https://glygen.org/publication/PubMed/22351778" } ] }, { "annotation": "PHF23 promotes NSCLC proliferation, metastasis, and chemoresistance via stabilization of ACTN4 and activation of the ERK pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" }, { "database": "PubMed", "id": "37626047", "url": "https://glygen.org/publication/PubMed/37626047" } ] }, { "annotation": "Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in the glomerular podocyte.", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" }, { "database": "PubMed", "id": "37730132", "url": "https://glygen.org/publication/PubMed/37730132" } ] }, { "annotation": "Single Nucleotide Polymorphism rs9277336 Controls the Nuclear Alpha Actinin 4-Human Leukocyte Antigen-DPA1 Axis and Pulmonary Endothelial Pathophenotypes in Pulmonary Arterial Hypertension.", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" }, { "database": "PubMed", "id": "36974749", "url": "https://glygen.org/publication/PubMed/36974749" } ] } ], "disease": [ { "disease_id": "DOID:0111128", "recommended_name": { "id": "DOID:0111128", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111128", "name": "focal segmental glomerulosclerosis 1", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2." }, "synonyms": [ { "id": "DOID:0111128", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111128", "name": "FSGS1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis 1", "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "ACTN4 focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "FSGS1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis 1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis caused by mutation in ACTN4", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis type 1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "glomerulosclerosis, focal segmental, 1", "description": "" }, { "id": "MIM:603278", "resource": "MIM", "url": "https://www.omim.org/entry/603278", "name": "Focal segmental glomerulosclerosis 1", "description": "Focal segmental glomerulosclerosis 1" } ], "evidence": [ { "id": "603278", "database": "MIM", "url": "https://www.omim.org/entry/603278" } ] }, { "disease_id": "DOID:1312", "recommended_name": { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "" }, "synonyms": [ { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "FGS", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "FSGS", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal glomerular sclerosis", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis 1", "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "ACTN4 focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "FSGS1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis 1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis caused by mutation in ACTN4", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis type 1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "glomerulosclerosis, focal segmental, 1", "description": "" }, { "id": "MIM:603278", "resource": "MIM", "url": "https://www.omim.org/entry/603278", "name": "Focal segmental glomerulosclerosis 1", "description": "Focal segmental glomerulosclerosis 1" } ], "evidence": [ { "id": "603278", "database": "MIM", "url": "https://www.omim.org/entry/603278" } ] } ], "snv": [ { "evidence": [ { "id": "rs1026877719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1026877719" }, { "id": "rs1026877719", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1026877719" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 113, "end_pos": 113, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "19", "chr_pos": "38701062", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1968257465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1968257465" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 115, "end_pos": 115, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKA->NKT).", "chr_id": "19", "chr_pos": "38701067", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202126611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202126611" }, { "id": "rs202126611", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202126611" }, { "id": "rs202126611", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202126611" }, { "id": "rs202126611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202126611#frequency_tab" }, { "id": "rs202126611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202126611" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 184, "end_pos": 184, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "19", "chr_pos": "38706110", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1432259087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1432259087" }, { "id": "rs1432259087", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1432259087#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 225, "end_pos": 225, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "19", "chr_pos": "38709417", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1245134349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1245134349" }, { "id": "rs1245134349", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1245134349#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 22, "end_pos": 22, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "19", "chr_pos": "38647809", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A22", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1357492399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357492399" }, { "id": "rs1357492399", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1357492399#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 370, "end_pos": 370, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRP->NRT).", "chr_id": "19", "chr_pos": "38717281", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P370", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778403713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778403713" }, { "id": "rs778403713", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs778403713" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 544, "end_pos": 544, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWM->NWT).", "chr_id": "19", "chr_pos": "38724016", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M544", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768261237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768261237" }, { "id": "rs768261237", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768261237" }, { "id": "rs768261237", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768261237#frequency_tab" }, { "id": "rs768261237", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768261237" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 603, "end_pos": 603, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHI->NHS).", "chr_id": "19", "chr_pos": "38724272", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I603", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1179634269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179634269" }, { "id": "rs1179634269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179634269" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 723, "end_pos": 723, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KHT->NHT).", "chr_id": "19", "chr_pos": "38725882", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K723", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1599868117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599868117" }, { "id": "rs1599868117", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599868117" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 862, "end_pos": 862, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFS).", "chr_id": "19", "chr_pos": "38729281", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I862", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 87, "end_pos": 88, "sequence_org": "LL", "sequence_mut": "AA", "comment": "Reduced interaction with RARA. Loss of the transcriptional coac tivator activity toward RARA.", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" }, { "database": "PubMed", "id": "22351778", "url": "https://glygen.org/publication/PubMed/22351778" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130402" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130402" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130402" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "97.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130402" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130402" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130402" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130402" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130402", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130402" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130402", "url": 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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": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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 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"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", 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43707" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43707" } ], "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": "O43707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43707" } ], "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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"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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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": 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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": 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"id": "IPR018159", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018159", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018247", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018247", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036872", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036872", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:81", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:81", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603278", "url": "http://www.omim.org/entry/603278", "database": "MIM", "categories": [ "Other" ] }, { "id": "604638", "url": "http://www.omim.org/entry/604638", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43707", "url": "https://www.nextprot.org/entry/NX_O43707", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43707", "url": 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Classification" ] }, { "id": "O43707", "url": "https://pharos.nih.gov/targets/O43707", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43707", "url": "http://purl.obolibrary.org/obo/PR_O43707", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A8V8TL71", "url": "https://www.uniprot.org/uniprot/A0A8V8TL71", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TL71-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TL71-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXS2", "url": "https://www.uniprot.org/uniprot/F5GXS2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXS2-1", "url": "https://www.uniprot.org/uniprot/F5GXS2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C144", "url": "https://www.uniprot.org/uniprot/H7C144", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C144-1", "url": "https://www.uniprot.org/uniprot/H7C144-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EP19", "url": "https://www.uniprot.org/uniprot/K7EP19", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EP19-1", "url": "https://www.uniprot.org/uniprot/K7EP19-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43707-1", "url": "https://www.uniprot.org/uniprot/O43707-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43707-2", "url": "https://www.uniprot.org/uniprot/O43707-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43707-3", "url": "https://www.uniprot.org/uniprot/O43707-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKDHGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETTDTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKSFSTALYGESDL", "length": 911, "header": "sp|O43707-1|ACTN4_HUMAN Isoform 1 of Alpha-actinin-4 OS=Homo sapiens OX=9606 GN=ACTN4 PE=1 SV=2 CANONICAL=O43707-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TL71-1", "url": "", "sequence": { "sequence": "METFIKETFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKDHGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETTDTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKSFSTALYGESDL", "length": 864, "header": "tr|A0A8V8TL71-1|A0A8V8TL71_HUMAN Computationally mapped isoform of Alpha-actinin-4 OS=Homo sapiens OX=9606 GN=ACTN4 PE=1 SV=1 CANONICAL=O43707-1" }, "locus": { "chromosome": "19", "start_pos": 38729429, "end_pos": 38663542, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697712.1", "url": "https://www.ensembl.org/id/ENST00000697712.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513410.1", "url": "https://www.ensembl.org/id/ENSP00000513410.1" } ] } }, { "isoform_ac": "F5GXS2-1", "url": "", "sequence": { "sequence": "MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVGTLRPDEKAIMTYVSCFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKDHGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETTDTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKSFSTALYGESDL", "length": 911, "header": "tr|F5GXS2-1|ACTN4_HUMAN Computationally mapped isoform of Alpha-actinin-4 OS=Homo sapiens OX=9606 GN=ACTN4 PE=1 SV=3 CANONICAL=O43707-1" }, "locus": { "chromosome": "19", "start_pos": 38729429, "end_pos": 38647746, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424234.7", "url": "https://www.ensembl.org/id/ENST00000424234.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000411187.4", "url": "https://www.ensembl.org/id/ENSP00000411187.4" } ] } }, { "isoform_ac": "H7C144-1", "url": "", "sequence": { "sequence": "MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVGTLRPDEKAIMTYVSCFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKKQTGSMDSDDFRALLISTGYSLGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETTDTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKSFSTALYGESDL", "length": 906, "header": "tr|H7C144-1|H7C144_HUMAN Computationally mapped isoform of Alpha-actinin-4 OS=Homo sapiens OX=9606 GN=ACTN4 PE=1 SV=2 CANONICAL=O43707-1" }, "locus": { "chromosome": "19", "start_pos": 38729429, "end_pos": 38647746, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440400.3", "url": "https://www.ensembl.org/id/ENST00000440400.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000398393.2", "url": "https://www.ensembl.org/id/ENSP00000398393.2" } ] } }, { "isoform_ac": "K7EP19-1", "url": "", "sequence": { "sequence": "XGGMVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEVISEELSWQTGPP", "length": 105, "header": "tr|K7EP19-1|K7EP19_HUMAN Computationally mapped isoform of Alpha-actinin-4 OS=Homo sapiens OX=9606 GN=ACTN4 PE=1 SV=1 CANONICAL=O43707-1" }, "locus": { "chromosome": "19", "start_pos": 38730018, "end_pos": 38647738, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589528.1", "url": "https://www.ensembl.org/id/ENST00000589528.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467190.1", "url": "https://www.ensembl.org/id/ENSP00000467190.1" } ] } }, { "isoform_ac": "O43707-1", "url": "", "sequence": { "sequence": "MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKDHGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETTDTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKSFSTALYGESDL", "length": 911, "header": "sp|O43707-1|ACTN4_HUMAN Isoform 1 of Alpha-actinin-4 OS=Homo sapiens OX=9606 GN=ACTN4 PE=1 SV=2 CANONICAL=O43707-1" }, "locus": { "chromosome": "19", "start_pos": 38729429, "end_pos": 38647746, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000252699.7", "url": "https://www.ensembl.org/id/ENST00000252699.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000252699.2", "url": "https://www.ensembl.org/id/ENSP00000252699.2" } ] } }, { "isoform_ac": "O43707-2", "url": "", "sequence": { "sequence": "MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKDHGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETTDTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKSFSTALYGESDL", "length": 692, "header": "sp|O43707-2|ACTN4_HUMAN Isoform 2 of Alpha-actinin-4 OS=Homo sapiens OX=9606 GN=ACTN4 PE=1 SV=2 CANONICAL=O43707-1" }, "locus": { "chromosome": "19", "start_pos": 38729429, "end_pos": 38647746, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000390009.7", "url": "https://www.ensembl.org/id/ENST00000390009.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000439497.1", "url": "https://www.ensembl.org/id/ENSP00000439497.1" } ] } }, { "isoform_ac": "O43707-3", "url": "", "sequence": { "sequence": "MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLELNELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKDHGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETTDTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKSFSTALYGESDL", "length": 521, "header": "sp|O43707-3|ACTN4_HUMAN Isoform 3 of Alpha-actinin-4 OS=Homo sapiens OX=9606 GN=ACTN4 PE=1 SV=2 CANONICAL=O43707-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 55, "start_aa": "Thr", "end_pos": 55, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr55", "evidence": [ { "id": "O43707", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "21285374", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21285374" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "22967762", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22967762" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "22883232", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22883232" }, { "id": "O43707", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43707" } ] } ], "phosphorylation": [ { "start_pos": 11, "end_pos": 11, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "29274473", "url": "https://glygen.org/publication/PubMed/29274473" } ], "site_lbl": "Tyr11" }, { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "29274473", "url": "https://glygen.org/publication/PubMed/29274473" } ], "site_lbl": "Tyr13" }, { "start_pos": 159, "end_pos": 159, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O43707", "url": "http://phospho.elm.eu.org/byAccession/O43707.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser159" }, { "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" } ], "site_lbl": "Thr249" }, { "start_pos": 265, "end_pos": 265, "kinase_uniprot_canonical_ac": "Q05397-1", "kinase_gene_name": "PTK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "23454549", "url": "https://glygen.org/publication/PubMed/23454549" } ], "site_lbl": "Tyr265" }, { "start_pos": 265, "end_pos": 265, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "O43707", "url": "http://phospho.elm.eu.org/byAccession/O43707.html" } ], "site_lbl": "Tyr265" }, { "start_pos": 31, "end_pos": 31, "kinase_uniprot_canonical_ac": "Q05397-1", "kinase_gene_name": "PTK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "23454549", "url": "https://glygen.org/publication/PubMed/23454549" } ], "site_lbl": "Tyr31" }, { "start_pos": 31, "end_pos": 31, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" }, { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "19920151", "url": "https://glygen.org/publication/PubMed/19920151" }, { "database": "PubMed", "id": "26012634", "url": "https://glygen.org/publication/PubMed/26012634" }, { "database": "PubMed", "id": "29274473", "url": "https://glygen.org/publication/PubMed/29274473" }, { "database": "PubMed", "id": "31664084", "url": "https://glygen.org/publication/PubMed/31664084" }, { "database": "PubMed", "id": "33532643", "url": "https://glygen.org/publication/PubMed/33532643" } ], "site_lbl": "Tyr31" }, { "start_pos": 397, "end_pos": 397, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "29274473", "url": "https://glygen.org/publication/PubMed/29274473" } ], "site_lbl": "Tyr397" }, { "start_pos": 4, "end_pos": 4, "kinase_uniprot_canonical_ac": "Q05397-1", "kinase_gene_name": "PTK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "23454549", "url": "https://glygen.org/publication/PubMed/23454549" } ], "site_lbl": "Tyr4" }, { "start_pos": 4, "end_pos": 4, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "19920151", "url": "https://glygen.org/publication/PubMed/19920151" }, { "database": "PubMed", "id": "26012634", "url": "https://glygen.org/publication/PubMed/26012634" }, { "database": "PubMed", "id": "29274473", "url": "https://glygen.org/publication/PubMed/29274473" }, { "database": "PubMed", "id": "31664084", "url": "https://glygen.org/publication/PubMed/31664084" }, { "database": "PubMed", "id": "33532643", "url": "https://glygen.org/publication/PubMed/33532643" } ], "site_lbl": "Tyr4" }, { "start_pos": 696, "end_pos": 696, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "site_lbl": "Ser696" }, { "start_pos": 863, "end_pos": 863, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Thr863" }, { "start_pos": 909, "end_pos": 909, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "site_lbl": "Ser909" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Nephrin is specifically located at the slit diaphragm of glomerular podocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Ruotsalainen V, Ljungberg P, Wartiovaara J, Lenkkeri U, Kestila M, Jalanko H, Holmberg C, Tryggvason K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "10393930", "url": "https://glygen.org/publication/PubMed/10393930" } ] }, { "title": "Unraveling the mechanisms of glomerular ultrafiltration: nephrin, a key component of the slit diaphragm.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "1999", "authors": "Tryggvason K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "10541305", "url": "https://glygen.org/publication/PubMed/10541305" } ] }, { "title": "Gastric hyperplasia in mice lacking the putative Cdc42 effector IQGAP1.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Li S, Wang Q, Chakladar A, Bronson RT, Bernards A", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "10611248", "url": "https://glygen.org/publication/PubMed/10611248" } ] }, { "title": "The human non-muscle alpha-actinin protein encoded by the ACTN4 gene suppresses tumorigenicity of human neuroblastoma cells.", "journal": "Oncogene", "date": "2000", "authors": "Nikolopoulos SN, Spengler BA, Kisselbach K, Evans AE, Biedler JL, Ross RA", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "10656685", "url": "https://glygen.org/publication/PubMed/10656685" } ] }, { "title": "Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.", "journal": "Nature genetics", "date": "2000", "authors": "Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "10700177", "url": "https://glygen.org/publication/PubMed/10700177" } ] }, { "title": "Nck and phosphatidylinositol 4,5-bisphosphate synergistically activate actin polymerization through the N-WASP-Arp2/3 pathway.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Rohatgi R, Nollau P, Ho HY, Kirschner MW, Mayer BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "11340081", "url": "https://glygen.org/publication/PubMed/11340081" } ] }, { "title": "Interaction with podocin facilitates nephrin signaling.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Huber TB, Kottgen M, Schilling B, Walz G, Benzing T", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "11562357", "url": "https://glygen.org/publication/PubMed/11562357" } ] }, { "title": "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.", "journal": "The Journal of clinical investigation", "date": "2001", "authors": "Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "11733557", "url": "https://glygen.org/publication/PubMed/11733557" } ] }, { "title": "Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Patrie KM, Drescher AJ, Welihinda A, Mundel P, Margolis B", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "12042308", "url": "https://glygen.org/publication/PubMed/12042308" } ] }, { "title": "Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2003", "authors": "Gerke P, Huber TB, Sellin L, Benzing T, Walz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "12660326", "url": "https://glygen.org/publication/PubMed/12660326" } ] }, { "title": "Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Verma R, Wharram B, Kovari I, Kunkel R, Nihalani D, Wary KK, Wiggins RC, Killen P, Holzman LB", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "12668668", "url": "https://glygen.org/publication/PubMed/12668668" } ] }, { "title": "Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases.", "journal": "Kidney international", "date": "2003", "authors": "Lahdenpera J, Kilpelainen P, Liu XL, Pikkarainen T, Reponen P, Ruotsalainen V, Tryggvason K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "12846735", "url": "https://glygen.org/publication/PubMed/12846735" } ] }, { "title": "Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.", "journal": "The Journal of clinical investigation", "date": "2003", "authors": "Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "12865409", "url": "https://glygen.org/publication/PubMed/12865409" } ] }, { "title": "Isolation of dense granules from human platelets.", "journal": "Methods in enzymology", "date": "1992", "authors": "Fukami MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "1435334", "url": "https://glygen.org/publication/PubMed/1435334" } ] }, { "title": "Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.", "journal": "Human molecular genetics", "date": "2003", "authors": "Huber TB, Simons M, Hartleben B, Sernetz L, Schmidts M, Gundlach E, Saleem MA, Walz G, Benzing T", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "14570703", "url": "https://glygen.org/publication/PubMed/14570703" } ] }, { "title": "Characterization of the proteins released from activated platelets leads to localization of novel platelet proteins in human atherosclerotic lesions.", "journal": "Blood", "date": "2004", "authors": "Coppinger JA, Cagney G, Toomey S, Kislinger T, Belton O, McRedmond JP, Cahill DJ, Emili A, Fitzgerald DJ, Maguire PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "14630798", "url": "https://glygen.org/publication/PubMed/14630798" } ] }, { "title": "Nephrin promotes cell-cell adhesion through homophilic interactions.", "journal": "The American journal of pathology", "date": "2003", "authors": "Khoshnoodi J, Sigmundsson K, Ofverstedt LG, Skoglund U, Obrink B, Wartiovaara J, Tryggvason K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "14633607", "url": "https://glygen.org/publication/PubMed/14633607" } ] }, { "title": "The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage.", "journal": "Blood", "date": "2004", "authors": "Jedlitschky G, Tirschmann K, Lubenow LE, Nieuwenhuis HK, Akkerman JW, Greinacher A, Kroemer HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "15297306", "url": "https://glygen.org/publication/PubMed/15297306" } ] }, { "title": "Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrin.", "journal": "The American journal of pathology", "date": "2004", "authors": "Lehtonen S, Lehtonen E, Kudlicka K, Holthofer H, Farquhar MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15331416", "url": "https://glygen.org/publication/PubMed/15331416" } ] }, { "title": "Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography.", "journal": "The Journal of clinical investigation", "date": "2004", "authors": "Wartiovaara J, Ofverstedt LG, Khoshnoodi J, Zhang J, Makela E, Sandin S, Ruotsalainen V, Cheng RH, Jalanko H, Skoglund U, Tryggvason K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15545998", "url": "https://glygen.org/publication/PubMed/15545998" } ] }, { "title": "SRC-family kinase Fyn phosphorylates the cytoplasmic domain of nephrin and modulates its interaction with podocin.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2004", "authors": "Li H, Lemay S, Aoudjit L, Kawachi H, Takano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15579503", "url": "https://glygen.org/publication/PubMed/15579503" } ] }, { "title": "Characterization of the interactions of the nephrin intracellular domain.", "journal": "The FEBS journal", "date": "2005", "authors": "Liu XL, Kilpelainen P, Hellman U, Sun Y, Wartiovaara J, Morgunova E, Pikkarainen T, Yan K, Jonsson AP, Tryggvason K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15634346", "url": "https://glygen.org/publication/PubMed/15634346" } ] }, { "title": "CART: an Hrs/actinin-4/BERP/myosin V protein complex required for efficient receptor recycling.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Yan Q, Sun W, Kujala P, Lotfi Y, Vida TA, Bean AJ", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "15772161", "url": "https://glygen.org/publication/PubMed/15772161" } ] }, { "title": "NEPH2 is located at the glomerular slit diaphragm, interacts with nephrin and is cleaved from podocytes by metalloproteinases.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2005", "authors": "Gerke P, Sellin L, Kretz O, Petraschka D, Zentgraf H, Benzing T, Walz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15843475", "url": "https://glygen.org/publication/PubMed/15843475" } ] }, { "title": "Structural dynamics of alpha-actinin-vinculin interactions.", "journal": "Mol. Cell. Biol.", "date": "2005", "authors": "Bois Philippe R J, Borgon Robert A, Vonrhein Clemens, Izard Tina", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "15988023", "url": "https://glygen.org/publication/PubMed/15988023" } ] }, { "title": "Cell junction-associated proteins IQGAP1, MAGI-2, CASK, spectrins, and alpha-actinin are components of the nephrin multiprotein complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Lehtonen S, Ryan JJ, Kudlicka K, Iino N, Zhou H, Farquhar MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "15994232", "url": "https://glygen.org/publication/PubMed/15994232" } ] }, { "title": "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.", "journal": "Genome Res.", "date": "2006", "authors": "Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "16344560", "url": "https://glygen.org/publication/PubMed/16344560" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes.", "journal": "Nature", "date": "2006", "authors": "Jones N, Blasutig IM, Eremina V, Ruston JM, Bladt F, Li H, Huang H, Larose L, Li SS, Takano T, Quaggin SE, Pawson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "16525419", "url": "https://glygen.org/publication/PubMed/16525419" } ] }, { "title": "Nephrin ectodomain engagement results in Src kinase activation, nephrin phosphorylation, Nck recruitment, and actin polymerization.", "journal": "The Journal of clinical investigation", "date": "2006", "authors": "Verma R, Kovari I, Soofi A, Nihalani D, Patrie K, Holzman LB", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "16543952", "url": "https://glygen.org/publication/PubMed/16543952" } ] }, { "title": "Nck links nephrin to actin in kidney podocytes.", "journal": "Cell", "date": "2006", "authors": "Tryggvason K, Pikkarainen T, Patrakka J", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "16630808", "url": "https://glygen.org/publication/PubMed/16630808" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Molecular composition of IMP1 ribonucleoprotein granules.", "journal": "Mol. Cell. Proteomics", "date": "2007", "authors": "Jonson L, Vikesaa J, Krogh A, Nielsen LK, Hansen Tv, Borup R, Johnsen AH, Christiansen J, Nielsen FC", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "17289661", "url": "https://glygen.org/publication/PubMed/17289661" } ] }, { "title": "The nephrin-based slit diaphragm: new insight into the signalling platform identifies targets for therapy.", "journal": "Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association", "date": "2007", "authors": "Aaltonen P, Holthofer H", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "17893108", "url": "https://glygen.org/publication/PubMed/17893108" } ] }, { "title": "Neph1 cooperates with nephrin to transduce a signal that induces actin polymerization.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Garg P, Verma R, Nihalani D, Johnstone DB, Holzman LB", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "17923684", "url": "https://glygen.org/publication/PubMed/17923684" } ] }, { "title": "Nephrin mediates actin reorganization via phosphoinositide 3-kinase in podocytes.", "journal": "Kidney international", "date": "2008", "authors": "Zhu J, Sun N, Aoudjit L, Li H, Kawachi H, Lemay S, Takano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "18033240", "url": "https://glygen.org/publication/PubMed/18033240" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "O43707-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis.", "journal": "Journal of molecular biology", "date": "2008", "authors": "Lee SH, Weins A, Hayes DB, Pollak MR, Dominguez R", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "18164029", "url": "https://glygen.org/publication/PubMed/18164029" } ] }, { "title": "Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.", "journal": "American journal of kidney diseases : the official journal of the National Kidney Foundation", "date": "2008", "authors": "Choi HJ, Lee BH, Cho HY, Moon KC, Ha IS, Nagata M, Choi Y, Cheong HI", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "18436095", "url": "https://glygen.org/publication/PubMed/18436095" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Nck proteins maintain the adult glomerular filtration barrier.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2009", "authors": "Jones N, New LA, Fortino MA, Eremina V, Ruston J, Blasutig IM, Aoudjit L, Zou Y, Liu X, Yu GL, Takano T, Quaggin SE, Pawson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "19443634", "url": "https://glygen.org/publication/PubMed/19443634" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Phosphorylation of alpha-actinin 4 upon epidermal growth factor exposure regulates its interaction with actin.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Shao H, Wu C, Wells A", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" } ], "reference": [ { "type": "PubMed", "id": "19920151", "url": "https://glygen.org/publication/PubMed/19920151" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O43707-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis.", "journal": "Human molecular genetics", "date": "2010", "authors": "Neumann-Haefelin E, Kramer-Zucker A, Slanchev K, Hartleben B, Noutsou F, Martin K, Wanner N, Ritter A, Godel M, Pagel P, Fu X, Muller A, Baumeister R, Walz G, Huber TB", "evidence": [ { "database": "Reactome", "id": "R-HSA-373753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753" } ], "reference": [ { "type": "PubMed", "id": "20233749", "url": "https://glygen.org/publication/PubMed/20233749" } ] }, { "title": "Crosstalk between O-GlcNAcylation and proteolytic cleavage regulates the host cell factor-1 maturation pathway.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Daou S, Mashtalir N, Hammond-Martel I, Pak H, Yu H, Sui G, Vogel JL, Kristie TM, Affar el B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "21285374", "url": "https://glygen.org/publication/PubMed/21285374" } ] }, { "title": "Familial focal segmental glomerulosclerosis (FSGS)-linked alpha-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Khurana S, Chakraborty S, Lam M, Liu Y, Su YT, Zhao X, Saleem MA, Mathieson PW, Bruggeman LA, Kao HY", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "22351778", "url": "https://glygen.org/publication/PubMed/22351778" } ] }, { "title": "Novel splicing isoform of actin-binding protein alpha-actinin 4 in epidermoid carcinoma cells A431.", "journal": "Tsitologiia", "date": "2012", "authors": "Aksenova V Iu, Khotin M G, Turoverova L V, Iudintseva N M, Magnusson K-\u00c9, Pinaev G P, Tentler D G", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "22567897", "url": "https://glygen.org/publication/PubMed/22567897" } ] }, { "title": "Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.", "journal": "Clinical nephrology", "date": "2012", "authors": "Buscher AK, Konrad M, Nagel M, Witzke O, Kribben A, Hoyer PF, Weber S", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "22732337", "url": "https://glygen.org/publication/PubMed/22732337" } ] }, { "title": "O-GlcNAc transferase/host cell factor C1 complex regulates gluconeogenesis by modulating PGC-1alpha stability.", "journal": "Cell metabolism", "date": "2012", "authors": "Ruan HB, Han X, Li MD, Singh JP, Qian K, Azarhoush S, Zhao L, Bennett AM, Samuel VT, Wu J, Yates JR 3rd, Yang X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "22883232", "url": "https://glygen.org/publication/PubMed/22883232" } ] }, { "title": "Characterization of O-GlcNAc cycling and proteomic identification of differentially O-GlcNAcylated proteins during G1/S transition.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Drougat L, Olivier-Van Stichelen S, Mortuaire M, Foulquier F, Lacoste AS, Michalski JC, Lefebvre T, Vercoutter-Edouart AS", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "22967762", "url": "https://glygen.org/publication/PubMed/22967762" } ] }, { "title": "Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.", "journal": "Kidney international", "date": "2013", "authors": "Barua M, Brown EJ, Charoonratana VT, Genovese G, Sun H, Pollak MR", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "23014460", "url": "https://glygen.org/publication/PubMed/23014460" } ] }, { "title": "Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked beta-N-acetylglucosamine-substituted protein in human heart myofibrils.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Leung MC, Hitchen PG, Ward DG, Messer AE, Marston SB", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "23271734", "url": "https://glygen.org/publication/PubMed/23271734" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "alpha-actinin1 and 4 tyrosine phosphorylation is critical for stress fiber establishment, maintenance and focal adhesion maturation.", "journal": "Experimental cell research", "date": "2013", "authors": "Feng Y, Ngu H, Alford SK, Ward M, Yin F, Longmore GD", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" } ], "reference": [ { "type": "PubMed", "id": "23454549", "url": "https://glygen.org/publication/PubMed/23454549" } ] }, { "title": "High precision platelet releasate definition by quantitative reversed protein profiling--brief report.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2013", "authors": "Wijten P, van Holten T, Woo LL, Bleijerveld OB, Roest M, Heck AJ, Scholten A", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "23640497", "url": "https://glygen.org/publication/PubMed/23640497" } ] }, { "title": "Mutational analysis of ACTN4, encoding alpha-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method.", "journal": "Folia biologica", "date": "2013", "authors": "Safarikova M, Reiterova J, Safrankova H, Stekrova J, Zidkova A, Obeidova L, Kohoutova M, Tesar V", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "23890478", "url": "https://glygen.org/publication/PubMed/23890478" } ] }, { "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": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" }, { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Tandem phosphorylation within an intrinsically disordered region regulates ACTN4 function.", "journal": "Science signaling", "date": "2015", "authors": "Travers T, Shao H, Joughin BA, Lauffenburger DA, Wells A, Camacho CJ", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" } ], "reference": [ { "type": "PubMed", "id": "26012634", "url": "https://glygen.org/publication/PubMed/26012634" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and strain-promoted alkyne-azide cycloaddition (SPAAC) in O-GlcNAc proteomics.", "journal": "Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "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": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "Tyro3-mediated phosphorylation of ACTN4 at tyrosines is FAK-dependent and decreases susceptibility to cleavage by m-Calpain.", "journal": "The international journal of biochemistry & cell biology", "date": "2018", "authors": "Shao H, Wang A, Lauffenburger D, Wells A", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" } ], "reference": [ { "type": "PubMed", "id": "29274473", "url": "https://glygen.org/publication/PubMed/29274473" } ] }, { "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": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Focal segmental glomerulosclerosis ACTN4 mutants binding to actin: regulation by phosphomimetic mutations.", "journal": "Scientific reports", "date": "2019", "authors": "Shao H, Wingert B, Weins A, Pollak MR, Camacho C, Wells A", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" } ], "reference": [ { "type": "PubMed", "id": "31664084", "url": "https://glygen.org/publication/PubMed/31664084" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Tandem Bioorthogonal Labeling Uncovers Endogenous Cotranslationally O-GlcNAc Modified Nascent Proteins.", "journal": "Journal of the American Chemical Society", "date": "2020", "authors": "Zhu Y, Willems LI, Salas D, Cecioni S, Wu WB, Foster LJ, Vocadlo DJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "32870666", "url": "https://glygen.org/publication/PubMed/32870666" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" }, { "database": "O-GlcNAc Atlas", "id": "O43707", "url": "https://oglcnac.org/atlas/detail/O43707" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "Binding of alpha-ACTN4 to EGF receptor enables its rapid phosphorylation.", "journal": "Heliyon", "date": "2021-01", "authors": "Shao Hanshuang, Wells Alan", "evidence": [ { "database": "iPTMnet", "id": "O43707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43707" } ], "reference": [ { "type": "PubMed", "id": "33532643", "url": "https://glygen.org/publication/PubMed/33532643" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", "date": "2022", "authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Alpha-actnin-4 (ACTN4) selectively affects the DNA double-strand breaks repair in non-small lung carcinoma cells.", "journal": "Biology direct", "date": "2022-12-07", "authors": "Kriger Daria, Novitskaya Ksenia, Vasileva Giomar, Lomert Ekaterina, Aksenov Nikolai D, Barlev Nikolai A, Tentler Dmitri", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" } ], "reference": [ { "type": "PubMed", "id": "36476259", "url": "https://glygen.org/publication/PubMed/36476259" } ] }, { "title": "Single Nucleotide Polymorphism rs9277336 Controls the Nuclear Alpha Actinin 4-Human Leukocyte Antigen-DPA1 Axis and Pulmonary Endothelial Pathophenotypes in Pulmonary Arterial Hypertension.", "journal": "Journal of the American Heart Association", "date": "2023-04-04", "authors": "Hafeez Neha, Kirillova Anna, Yue Yunshan, Rao Rashmi J, Kelly Neil J, El Khoury Wadih, Al Aaraj Yassmin, Tai Yi-Yin, Handen Adam, Tang Ying, Jiang Danli, Wu Ting, Zhang Yingze, McNamara Dennis, Kudryashova Tatiana V, Goncharova Elena A, Goncharov Dmitry, Bertero Thomas, Nouraie Mehdi, Li Gang, Sun Wei, Chan Stephen Y", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" } ], "reference": [ { "type": "PubMed", "id": "36974749", "url": "https://glygen.org/publication/PubMed/36974749" } ] }, { "title": "Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children.", "journal": "Molecular biology reports", "date": "2023-04-04", "authors": "Al-Azzawy Mohammed F, Al-Haggar Mohammad, ElSaid Afaf M, El-Khawaga Omali Y", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" } ], "reference": [ { "type": "PubMed", "id": "37014572", "url": "https://glygen.org/publication/PubMed/37014572" } ] }, { "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", "id": "O43707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43707" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "PHF23 promotes NSCLC proliferation, metastasis, and chemoresistance via stabilization of ACTN4 and activation of the ERK pathway.", "journal": "Cell death & disease", "date": "2023-08-25", "authors": "Cheng Ming, Cao Hongyi, Yao Peifeng, Guan Jingqian, Wu Peihong, Ji Hairu, Jiang Siyu, Yuan Yinan, Fu Lin, Zheng Qianqian, Li Qingchang", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" } ], "reference": [ { "type": "PubMed", "id": "37626047", "url": "https://glygen.org/publication/PubMed/37626047" } ] }, { "title": "Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in the glomerular podocyte.", "journal": "Biochimica et biophysica acta. Molecular cell research", "date": "2024-01", "authors": "Hsu Ming-Fo, Ito Yoshihiro, Singh Jai Prakash, Hsu Shu-Fang, Wells Alan, Jen Kuang-Yu, Meng Tzu-Ching, Haj Fawaz G", "evidence": [ { "database": "RefSeq", "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915" } ], "reference": [ { "type": "PubMed", "id": "37730132", "url": "https://glygen.org/publication/PubMed/37730132" } ] }, { "title": "Characterization of the proteins of isolated human platelet alpha-granules. Evidence for a separate alpha-granule-pool of the glycoproteins IIb and IIIa.", "journal": "Biochimica et biophysica acta", "date": "1981", "authors": "Gogstad GO, Hagen I, Korsmo R, Solum NO", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "6457647", "url": "https://glygen.org/publication/PubMed/6457647" } ] }, { "title": "Platelet alpha-granules.", "journal": "Blood reviews", "date": "1993", "authors": "Harrison P, Cramer EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "8467233", "url": "https://glygen.org/publication/PubMed/8467233" } ] }, { "title": "Actinin-4, a novel actin-bundling protein associated with cell motility and cancer invasion.", "journal": "The Journal of cell biology", "date": "1998-03-23", "authors": "Honda K, Yamada T, Endo R, Ino Y, Gotoh M, Tsuda H, Yamada Y, Chiba H, Hirohashi S", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "reference": [ { "type": "PubMed", "id": "9508771", "url": "https://glygen.org/publication/PubMed/9508771" } ] } ], "pathway": [ { "id": "hsa:81", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:81", "resource": "KEGG Pathway" }, { "id": "R-HSA-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "id": "R-HSA-373753", "name": "Nephrin family interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373753", "resource": "Reactome", "description": "Nephrin family interactions" } ], "orthologs": [ { "uniprot_canonical_ac": "P57780-1", "protein_name": "Alpha-actinin-4", "gene_name": "Actn4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { 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"http://www.informatics.jax.org/homology/45928773", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9QXQ0-1", "protein_name": "Alpha-actinin-4", "gene_name": "Actn4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MVDYHAANQAYQYGPSSGGNGTGGGGGMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYERLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRCQKICDQWDNLGSLTHSRREALEKTEKQLETIDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPYTSVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANMVGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHLRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKDHGGALGPEEFKACLISLGYDVENDRQGDAEFNRIMSVVDPNHSGLVTFQAFIDFMSRETTDTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAAPGALDYKSFSTALYGESDL", "length": 911 }, "evidence": [ { "id": "45928773", "url": "http://www.informatics.jax.org/homology/45928773", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 14, "go_terms": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": 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binding", "id": "GO:0042974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042974", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "nucleoside binding", "id": "GO:0001882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001882", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 19, "go_terms": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "cellular anatomical entity", "id": "GO:0110165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110165", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "pseudopodium", "id": "GO:0031143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031143", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": "https://www.uniprot.org/uniprot/O43707" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O43707", "url": 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