{ "uniprot_canonical_ac": "P12814-1", "uniprot_ac": "P12814", "uniprot_id": "ACTN1_HUMAN", "mass": { "chemical_mass": 103058.0, "monoisotopic_mass": 103058.0 }, "refseq": { "ac": "NP_001093", "name": "alpha-actinin-1 isoform b", "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, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093" }, "gene_names": [ { "name": "ACTN1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12814", "id": "P12814" }, { "name": "ACTN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093", "id": "NP_001093" }, { "name": "BDPLT15", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093", "id": "NP_001093" } ], "protein_names": [ { "name": "Alpha-actinin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12814" }, { "name": "Alpha-actinin cytoskeletal isoform", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12814" }, { "name": "F-actin cross-linking protein; actinin 1 smooth muscle; non-muscle alpha-actinin-1; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093", "id": "NP_001093" }, { "name": "F-actin cross-linking protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12814" }, { "name": "Non-muscle alpha-actinin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12814" }, { "name": "alpha-actinin-1 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093", "id": "NP_001093" } ], "function": [ { "annotation": "ACTN1 supports tumor growth by inhibiting Hippo signaling in hepatocellular carcinoma. Erratum:[J Exp Clin Cancer Res. 2021 Apr 12;40(1):128. PMID: 33845876] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093" }, { "database": "PubMed", "id": "33413564", "url": "https://glygen.org/publication/PubMed/33413564" } ] }, { "annotation": "Actinin BioID reveals sarcomere crosstalk with oxidative metabolism through interactions with IGF2BP2.", "evidence": [ { "database": "RefSeq", "id": "NP_001093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093" }, { "database": "PubMed", "id": "34380038", "url": "https://glygen.org/publication/PubMed/34380038" } ] }, { "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, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093" } ] }, { "annotation": "Alpha-Actinin1 promotes tumorigenesis and epithelial-mesenchymal transition of gastric cancer via the AKT/GSK3beta/beta-Catenin pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093" }, { "database": "PubMed", "id": "34546849", "url": "https://glygen.org/publication/PubMed/34546849" } ] }, { "annotation": "Distinct forms of the actin cross-linking protein alpha-actinin support macropinosome internalization and trafficking.", "evidence": [ { "database": "RefSeq", "id": "NP_001093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093" }, { "database": "PubMed", "id": "34010028", "url": "https://glygen.org/publication/PubMed/34010028" } ] }, { "annotation": "Enhancement of cardiac contractility using gold-coated SU-8 cantilevers and their application to drug-induced cardiac toxicity tests. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093" }, { "database": "PubMed", "id": "34642716", "url": "https://glygen.org/publication/PubMed/34642716" } ] }, { "annotation": "F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.", "evidence": [ { "database": "UniProtKB", "id": "A0A804HIY0", "url": "https://www.uniprot.org/uniprot/A0A804HIY0#function" }, { "database": "UniProtKB", "id": "ARBA00037076", "url": "https://www.uniprot.org/uniprot/ARBA00037076#function" }, { "database": "UniProtKB", "id": "A0A804HII9", "url": "https://www.uniprot.org/uniprot/A0A804HII9#function" }, { "database": "UniProtKB", "id": "A0A804HL31", "url": "https://www.uniprot.org/uniprot/A0A804HL31#function" }, { "database": "UniProtKB", "id": "A0A804HIN7", "url": "https://www.uniprot.org/uniprot/A0A804HIN7#function" }, { "database": "UniProtKB", "id": "G3V5M4", "url": "https://www.uniprot.org/uniprot/G3V5M4#function" }, { "database": "UniProtKB", "id": "A0A804HJU8", "url": "https://www.uniprot.org/uniprot/A0A804HJU8#function" }, { "database": "UniProtKB", "id": "A0A804HLD0", "url": "https://www.uniprot.org/uniprot/A0A804HLD0#function" }, { "database": "UniProtKB", "id": "G3V2W4", "url": "https://www.uniprot.org/uniprot/G3V2W4#function" }, { "database": "UniProtKB", "id": "A0A804HJN7", "url": "https://www.uniprot.org/uniprot/A0A804HJN7#function" }, { "database": "UniProtKB", "id": "G3V2X9", "url": "https://www.uniprot.org/uniprot/G3V2X9#function" }, { "database": "UniProtKB", "id": "H9KV75", "url": "https://www.uniprot.org/uniprot/H9KV75#function" }, { "database": "UniProtKB", "id": "A0A804HLF4", "url": "https://www.uniprot.org/uniprot/A0A804HLF4#function" }, { "database": "UniProtKB", "id": "A0A804HK61", "url": "https://www.uniprot.org/uniprot/A0A804HK61#function" }, { "database": "UniProtKB", "id": "G3V2E8", "url": "https://www.uniprot.org/uniprot/G3V2E8#function" }, { "database": "UniProtKB", "id": "G3V2N5", "url": "https://www.uniprot.org/uniprot/G3V2N5#function" }, { "database": "UniProtKB", "id": "A0A804HJQ9", "url": "https://www.uniprot.org/uniprot/A0A804HJQ9#function" }, { "database": "UniProtKB", "id": "A0A804HKE2", "url": "https://www.uniprot.org/uniprot/A0A804HKE2#function" }, { "database": "UniProtKB", "id": "A0A7I2V4Y4", "url": "https://www.uniprot.org/uniprot/A0A7I2V4Y4#function" }, { "database": "UniProtKB", "id": "P12814", "url": "https://www.uniprot.org/uniprot/P12814#function" } ] } ], "disease": [ { "disease_id": "DOID:0111053", "recommended_name": { "id": "DOID:0111053", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111053", "name": "platelet-type bleeding disorder 15", "description": "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q." }, "synonyms": [ { "id": "DOID:0111053", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111053", "name": "BDPLT15", "description": "" }, { "id": "DOID:0111053", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111053", "name": "autosomal dominant macrothrombocytopenia ACTN1-related", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "platelet-type bleeding disorder 15", "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene." }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "ACTN1 inherited bleeding disorder, platelet-type", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "BDPLT15", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "autosomal dominant macrothrombocytopenia ACTN1-related", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "inherited bleeding disorder, platelet-type caused by mutation in ACTN1", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "platelet-type bleeding disorder 15", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "bleeding disorder, platelet-type, 15", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "macrothrombocytopenia, autosomal dominant, ACTN1-related", "description": "" }, { "id": "MIM:615193", "resource": "MIM", "url": "https://www.omim.org/entry/615193", "name": "Bleeding disorder, platelet-type, 15", "description": "Bleeding disorder, platelet-type, 15" } ], "evidence": [ { "id": "615193", "database": "MIM", "url": "https://www.omim.org/entry/615193" } ] } ], "snv": [ { "evidence": [ { "id": "P12814", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12814" }, { "id": "rs761658735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761658735" }, { "id": "rs761658735", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761658735" }, { "id": "rs761658735", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761658735" }, { "id": "rs761658735", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761658735" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 208, "end_pos": 208, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "14", "chr_pos": "68904709", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A208", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1237889261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237889261" }, { "id": "rs1237889261", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237889261#frequency_tab" }, { "id": "rs1237889261", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1237889261" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 293, "end_pos": 293, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "14", "chr_pos": "68892261", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T293", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1306991606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306991606" }, { "id": "rs1306991606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1306991606" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 339, "end_pos": 339, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "14", "chr_pos": "68892123", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N339", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1454176065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454176065" }, { "id": "rs1454176065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454176065" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 367, "end_pos": 367, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNA->NNS).", "chr_id": "14", "chr_pos": "68885516", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A367", "keywords": [ "ebi", "germline" ] }, 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], "disease": [ { "disease_id": "DOID:0111053", "recommended_name": { "id": "DOID:0111053", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111053", "name": "platelet-type bleeding disorder 15", "description": "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q." }, "synonyms": [ { "id": "DOID:0111053", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111053", "name": "BDPLT15", "description": "" }, { "id": "DOID:0111053", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111053", "name": "autosomal dominant macrothrombocytopenia ACTN1-related", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "platelet-type bleeding disorder 15", "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene." }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "ACTN1 inherited bleeding disorder, platelet-type", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "BDPLT15", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "autosomal dominant macrothrombocytopenia ACTN1-related", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "inherited bleeding disorder, platelet-type caused by mutation in ACTN1", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "platelet-type bleeding disorder 15", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "bleeding disorder, platelet-type, 15", "description": "" }, { "id": "MONDO:0014078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014078", "name": "macrothrombocytopenia, autosomal dominant, ACTN1-related", "description": "" }, { "id": "MIM:615193", "resource": "MIM", "url": "https://www.omim.org/entry/615193", "name": "Bleeding disorder, platelet-type, 15", "description": "Bleeding disorder, platelet-type, 15" } ] } ] }, { "evidence": [ { "id": "rs1045728006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045728006" }, { "id": "rs1045728006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1045728006" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], 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"http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs750725722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750725722" }, { "id": "rs750725722", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750725722" }, 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"url": "https://www.uniprot.org/uniprot/A0A804HKE2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HL31", "url": "https://www.uniprot.org/uniprot/A0A804HL31", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HL31-1", "url": "https://www.uniprot.org/uniprot/A0A804HL31-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HLD0", "url": "https://www.uniprot.org/uniprot/A0A804HLD0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HLD0-1", "url": "https://www.uniprot.org/uniprot/A0A804HLD0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HLF4", "url": "https://www.uniprot.org/uniprot/A0A804HLF4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HLF4-1", "url": "https://www.uniprot.org/uniprot/A0A804HLF4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2E8", "url": "https://www.uniprot.org/uniprot/G3V2E8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2E8-1", "url": "https://www.uniprot.org/uniprot/G3V2E8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2N5", "url": "https://www.uniprot.org/uniprot/G3V2N5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2N5-1", "url": "https://www.uniprot.org/uniprot/G3V2N5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2W4", "url": "https://www.uniprot.org/uniprot/G3V2W4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2W4-1", "url": "https://www.uniprot.org/uniprot/G3V2W4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2X9", "url": "https://www.uniprot.org/uniprot/G3V2X9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2X9-1", "url": "https://www.uniprot.org/uniprot/G3V2X9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V380", "url": "https://www.uniprot.org/uniprot/G3V380", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V380-1", "url": "https://www.uniprot.org/uniprot/G3V380-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V5M4", "url": "https://www.uniprot.org/uniprot/G3V5M4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V5M4-1", "url": "https://www.uniprot.org/uniprot/G3V5M4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ11", "url": "https://www.uniprot.org/uniprot/H0YJ11", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ11-1", "url": "https://www.uniprot.org/uniprot/H0YJ11-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJW3", "url": "https://www.uniprot.org/uniprot/H0YJW3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJW3-1", "url": "https://www.uniprot.org/uniprot/H0YJW3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5W8", "url": "https://www.uniprot.org/uniprot/H7C5W8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5W8-1", "url": "https://www.uniprot.org/uniprot/H7C5W8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H9KV75", "url": "https://www.uniprot.org/uniprot/H9KV75", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H9KV75-1", "url": "https://www.uniprot.org/uniprot/H9KV75-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12814", "url": "https://www.uniprot.org/uniprot/P12814", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12814-1", "url": "https://www.uniprot.org/uniprot/P12814-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12814-2", "url": "https://www.uniprot.org/uniprot/P12814-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12814-3", "url": "https://www.uniprot.org/uniprot/P12814-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12814-4", "url": "https://www.uniprot.org/uniprot/P12814-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 892, "header": "sp|P12814-1|ACTN1_HUMAN Isoform 1 of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=2 CANONICAL=P12814-1" }, "isoforms": [ { "isoform_ac": "A0A7I2V4Y4-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDAMWPSLNPGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 895, "header": "tr|A0A7I2V4Y4-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679147.1", "url": "https://www.ensembl.org/id/ENST00000679147.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504355.1", "url": "https://www.ensembl.org/id/ENSP00000504355.1" } ] } }, { "isoform_ac": "A0A804HII9-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 913, "header": "tr|A0A804HII9-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682291.1", "url": "https://www.ensembl.org/id/ENST00000682291.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507093.1", "url": "https://www.ensembl.org/id/ENSP00000507093.1" } ] } }, { "isoform_ac": "A0A804HIN7-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 883, "header": "tr|A0A804HIN7-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684713.1", "url": "https://www.ensembl.org/id/ENST00000684713.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507155.1", "url": "https://www.ensembl.org/id/ENSP00000507155.1" } ] } }, { "isoform_ac": "A0A804HIY0-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEAGRMASASVL", "length": 152, "header": "tr|A0A804HIY0-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68909368, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682559.1", "url": "https://www.ensembl.org/id/ENST00000682559.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507271.1", "url": "https://www.ensembl.org/id/ENSP00000507271.1" } ] } }, { "isoform_ac": "A0A804HJN7-1", "url": "", "sequence": { "sequence": "MLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQL", "length": 210, "header": "tr|A0A804HJN7-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68925582, "end_pos": 68893685, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554508.6", "url": "https://www.ensembl.org/id/ENST00000554508.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000507578.1", "url": "https://www.ensembl.org/id/ENSP00000507578.1" } ] } }, { "isoform_ac": "A0A804HJQ9-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKMCRHAKAGWEGRVT", "length": 268, "header": "tr|A0A804HJQ9-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68900905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683267.1", "url": "https://www.ensembl.org/id/ENST00000683267.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508356.1", "url": "https://www.ensembl.org/id/ENSP00000508356.1" } ] } }, { "isoform_ac": "A0A804HJU8-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 874, "header": "tr|A0A804HJU8-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684639.1", "url": "https://www.ensembl.org/id/ENST00000684639.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507653.1", "url": "https://www.ensembl.org/id/ENSP00000507653.1" } ] } }, { "isoform_ac": "A0A804HK61-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 886, "header": "tr|A0A804HK61-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684598.1", "url": "https://www.ensembl.org/id/ENST00000684598.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507785.1", "url": "https://www.ensembl.org/id/ENSP00000507785.1" } ] } }, { "isoform_ac": "A0A804HKE2-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDAMWPSLNPGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 922, "header": "tr|A0A804HKE2-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683198.1", "url": "https://www.ensembl.org/id/ENST00000683198.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507889.1", "url": "https://www.ensembl.org/id/ENSP00000507889.1" } ] } }, { "isoform_ac": "A0A804HL31-1", "url": "", "sequence": { "sequence": "MLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 827, "header": "tr|A0A804HL31-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68925582, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684182.1", "url": "https://www.ensembl.org/id/ENST00000684182.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508177.1", "url": "https://www.ensembl.org/id/ENSP00000508177.1" } ] } }, { "isoform_ac": "A0A804HLD0-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKLQEGGKMQTAHAAFTPPGFAAVSGRAALRLLDFAAFLTTLS", "length": 903, "header": "tr|A0A804HLD0-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68875024, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683342.1", "url": "https://www.ensembl.org/id/ENST00000683342.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508301.1", "url": "https://www.ensembl.org/id/ENSP00000508301.1" } ] } }, { "isoform_ac": "A0A804HLF4-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 826, "header": "tr|A0A804HLF4-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682331.1", "url": "https://www.ensembl.org/id/ENST00000682331.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508329.1", "url": "https://www.ensembl.org/id/ENSP00000508329.1" } ] } }, { "isoform_ac": "G3V2E8-1", "url": "", "sequence": { "sequence": "MLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGL", "length": 85, "header": "tr|G3V2E8-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68925582, "end_pos": 68910020, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553779.5", "url": "https://www.ensembl.org/id/ENST00000553779.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450618.1", "url": "https://www.ensembl.org/id/ENSP00000450618.1" } ] } }, { "isoform_ac": "G3V2N5-1", "url": "", "sequence": { "sequence": "MGLRYVLPLRPPGKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEK", "length": 260, "header": "tr|G3V2N5-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=8 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68978258, "end_pos": 68893667, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556433.5", "url": "https://www.ensembl.org/id/ENST00000556433.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450764.1", "url": "https://www.ensembl.org/id/ENSP00000450764.1" } ] } }, { "isoform_ac": "G3V2W4-1", "url": "", "sequence": { "sequence": "MLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPE", "length": 238, "header": "tr|G3V2W4-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68925582, "end_pos": 68892230, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555616.5", "url": "https://www.ensembl.org/id/ENST00000555616.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450903.1", "url": "https://www.ensembl.org/id/ENSP00000450903.1" } ] } }, { "isoform_ac": "G3V2X9-1", "url": "", "sequence": { "sequence": "MLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAF", "length": 144, "header": "tr|G3V2X9-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68925582, "end_pos": 68904704, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553370.5", "url": "https://www.ensembl.org/id/ENST00000553370.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450925.1", "url": "https://www.ensembl.org/id/ENSP00000450925.1" } ] } }, { "isoform_ac": "G3V380-1", "url": "", "sequence": { "sequence": "MGPGHSGQWQEEVRNHSWWWGEGASTLPLLPACATFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVIS", "length": 72, "header": "tr|G3V380-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68978051, "end_pos": 68925559, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553659.1", "url": "https://www.ensembl.org/id/ENST00000553659.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451086.1", "url": "https://www.ensembl.org/id/ENSP00000451086.1" } ] } }, { "isoform_ac": "G3V5M4-1", "url": "", "sequence": { "sequence": "MGPGHSGQWQEETFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEG", "length": 126, "header": "tr|G3V5M4-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68978051, "end_pos": 68910023, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556571.1", "url": "https://www.ensembl.org/id/ENST00000556571.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452423.1", "url": "https://www.ensembl.org/id/ENSP00000452423.1" } ] } }, { "isoform_ac": "H0YJ11-1", "url": "", "sequence": { "sequence": "XEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLG", "length": 207, "header": "tr|H0YJ11-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68884303, "end_pos": 68879049, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553290.1", "url": "https://www.ensembl.org/id/ENST00000553290.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450625.1", "url": "https://www.ensembl.org/id/ENSP00000450625.1" } ] } }, { "isoform_ac": "H0YJW3-1", "url": "", "sequence": { "sequence": "XQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 251, "header": "tr|H0YJW3-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68882567, "end_pos": 68874861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555075.5", "url": "https://www.ensembl.org/id/ENST00000555075.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452254.1", "url": "https://www.ensembl.org/id/ENSP00000452254.1" } ] } }, { "isoform_ac": "H7C5W8-1", "url": "", "sequence": { "sequence": "DGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGP", "length": 297, "header": "tr|H7C5W8-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68890142, "end_pos": 68879046, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544964.6", "url": "https://www.ensembl.org/id/ENST00000544964.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000444422.2", "url": "https://www.ensembl.org/id/ENSP00000444422.2" } ] } }, { "isoform_ac": "H9KV75-1", "url": "", "sequence": { "sequence": "MLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 822, "header": "tr|H9KV75-1|ACTN1_HUMAN Computationally mapped isoform of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=1 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68925582, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683225.1", "url": "https://www.ensembl.org/id/ENST00000683225.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506977.1", "url": "https://www.ensembl.org/id/ENSP00000506977.1" } ] } }, { "isoform_ac": "P12814-1", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 892, "header": "sp|P12814-1|ACTN1_HUMAN Isoform 1 of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=2 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000193403.10", "url": "https://www.ensembl.org/id/ENST00000193403.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000193403.6", "url": "https://www.ensembl.org/id/ENSP00000193403.6" } ] } }, { "isoform_ac": "P12814-2", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 887, "header": "sp|P12814-2|ACTN1_HUMAN Isoform 2 of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=2 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438964.6", "url": "https://www.ensembl.org/id/ENST00000438964.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000414272.2", "url": "https://www.ensembl.org/id/ENSP00000414272.2" } ] } }, { "isoform_ac": "P12814-3", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 914, "header": "sp|P12814-3|ACTN1_HUMAN Isoform 3 of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=2 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394419.9", "url": "https://www.ensembl.org/id/ENST00000394419.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000377941.4", "url": "https://www.ensembl.org/id/ENSP00000377941.4" } ] } }, { "isoform_ac": "P12814-4", "url": "", "sequence": { "sequence": "MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRKKTGMMDTDDFRACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKLQEGGKMQTAHAAFTPPGFAAVSGRAALRLLDFAAFLTTLSSQNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL", "length": 930, "header": "sp|P12814-4|ACTN1_HUMAN Isoform 4 of Alpha-actinin-1 OS=Homo sapiens OX=9606 GN=ACTN1 PE=1 SV=2 CANONICAL=P12814-1" }, "locus": { "chromosome": "14", "start_pos": 68979056, "end_pos": 68874862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538545.6", "url": "https://www.ensembl.org/id/ENST00000538545.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000439828.2", "url": "https://www.ensembl.org/id/ENSP00000439828.2" } ] } } ], "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": 293, "start_aa": "Thr", "end_pos": 293, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr293", "evidence": [ { "id": "P12814", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12814" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "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": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "22967762", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22967762" }, { "id": "P12814", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12814" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 293, "start_aa": "Thr", "end_pos": 293, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr293", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "phosphorylation": [ { "start_pos": 12, "end_pos": 12, "kinase_uniprot_canonical_ac": "Q05397-1", "kinase_gene_name": "PTK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12814" }, { "database": "PubMed", "id": "11369769", "url": "https://glygen.org/publication/PubMed/11369769" }, { "database": "PubMed", "id": "16291744", "url": "https://glygen.org/publication/PubMed/16291744" }, { "database": "PubMed", "id": "23454549", "url": "https://glygen.org/publication/PubMed/23454549" } ], "site_lbl": "Tyr12" }, { "start_pos": 12, "end_pos": 12, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by FAK1", "evidence": [ { "database": "UniProtKB", "id": "P12814", "url": "https://www.uniprot.org/uniprot/P12814" }, { "database": "phospho.ELM", "id": "P12814", "url": "http://phospho.elm.eu.org/byAccession/P12814.html" }, { "database": "iPTMnet", "id": "P12814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12814" }, { "database": "PubMed", "id": "11369769", "url": "https://glygen.org/publication/PubMed/11369769" }, { "database": "PRO", "id": "P12814", "url": "http://purl.obolibrary.org/obo/P12814" }, { "database": "PubMed", "id": "16291744", "url": "https://glygen.org/publication/PubMed/16291744" }, { "database": "PubMed", "id": "17898132", "url": "https://glygen.org/publication/PubMed/17898132" } ], "site_lbl": "Tyr12" }, { "start_pos": 140, "end_pos": 140, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12814" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "P12814", "url": "http://phospho.elm.eu.org/byAccession/P12814.html" } ], "site_lbl": "Ser140" }, { "start_pos": 193, "end_pos": 193, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12814" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P12814", "url": "http://phospho.elm.eu.org/byAccession/P12814.html" } ], "site_lbl": "Tyr193" }, { "start_pos": 471, "end_pos": 471, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12814", "url": "https://www.uniprot.org/uniprot/P12814" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P12814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12814" } ], "site_lbl": "Ser471" }, { "start_pos": 50, "end_pos": 50, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12814" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "phospho.ELM", "id": "P12814", "url": "http://phospho.elm.eu.org/byAccession/P12814.html" }, { "database": "PubMed", "id": "16097034", "url": "https://glygen.org/publication/PubMed/16097034" } ], "site_lbl": "Thr50" }, { "start_pos": 677, "end_pos": 677, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12814", "url": "https://www.uniprot.org/uniprot/P12814" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P12814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12814" } ], "site_lbl": "Ser677" }, { "start_pos": 6, "end_pos": 6, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12814", "url": "https://www.uniprot.org/uniprot/P12814" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P12814", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12814" } ], "site_lbl": "Ser6" }, { "start_pos": 890, "end_pos": 890, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12814", "url": "https://www.uniprot.org/uniprot/P12814" } ], "site_lbl": "Ser890" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.", "journal": "Hum. Mol. Genet.", "date": "1999", "authors": "Salmikangas P, Mykkanen OM, Gronholm M, Heiska L, Kere J, Carpen O", "evidence": [ { "database": "UniProtKB", "id": "P12814", "url": "https://www.uniprot.org/uniprot/P12814" } ], "reference": [ { "type": "PubMed", "id": "10369880", "url": "https://glygen.org/publication/PubMed/10369880" } ] }, { "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": "Calsarcins, a novel family of sarcomeric calcineurin-binding proteins.", "journal": "Proc. Natl. Acad. Sci. 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