{ "uniprot_canonical_ac": "O00499-1", "uniprot_ac": "O00499", "uniprot_id": "BIN1_HUMAN", "mass": { "chemical_mass": 64699.0, "monoisotopic_mass": 64699.0 }, "refseq": { "ac": "NP_001307561", "name": "myc box-dependent-interacting protein 1 isoform 13", "summary": "This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" }, "gene_names": [ { "name": "BIN1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00499", "id": "O00499" }, { "name": "AMPH2; AMPHL; CNM2; SH3P9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561", "id": "NP_001307561" }, { "name": "AMPHL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00499", "id": "O00499" }, { "name": "BIN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561", "id": "NP_001307561" } ], "protein_names": [ { "name": "Myc box-dependent-interacting protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00499" }, { "name": "Amphiphysin II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00499" }, { "name": "Amphiphysin-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00499" }, { "name": "Box-dependent myc-interacting protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00499" }, { "name": "Bridging integrator 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00499" }, { "name": "amphiphysin II; box dependant MYC interacting protein 1; amphiphysin-like protein; box-dependent myc-interacting protein 1; amphiphysin 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561", "id": "NP_001307561" }, { "name": "myc box-dependent-interacting protein 1 isoform 13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561", "id": "NP_001307561" } ], "function": [ { "annotation": "A nucleocytosolic myc-interacting isoform of Bin1 has properties of a tumor suppressor.", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" }, { "database": "PubMed", "id": "8782822", "url": "https://glygen.org/publication/PubMed/8782822" } ] }, { "annotation": "APOE-epsilon4 and BIN1 increase risk of Alzheimer's disease pathology but not specifically of Lewy body pathology. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" }, { "database": "PubMed", "id": "37700353", "url": "https://glygen.org/publication/PubMed/37700353" } ] }, { "annotation": "BIN1 in the Pursuit of Ousting the Alzheimer's Reign: Impact on Amyloid and Tau Neuropathology. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" }, { "database": "PubMed", "id": "37847429", "url": "https://glygen.org/publication/PubMed/37847429" } ] }, { "annotation": "BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" }, { "database": "PubMed", "id": "37139790", "url": "https://glygen.org/publication/PubMed/37139790" } ] }, { "annotation": "Genetic polymorphism in BIN1 rather than APOE is associated with poor recognition memory among men without dementia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" }, { "database": "PubMed", "id": "36280690", "url": "https://glygen.org/publication/PubMed/36280690" } ] }, { "annotation": "High Indoleamine 2,3-Dioxygenase Expression along with Low Bridging Integrator-1 Expression in Hepatocellular Carcinoma Patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" }, { "database": "PubMed", "id": "37247278", "url": "https://glygen.org/publication/PubMed/37247278" } ] }, { "annotation": "Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contraction coupling (PubMed:24755653). Is a negative regulator of endocytosis (By similarity). Is also involved in the regulation of intracellular vesicles sorting, modulation of BACE1 trafficking and the control of amyloid-beta production (PubMed:27179792). In neuronal circuits, endocytosis regulation may influence the internalization of PHF-tau aggregates (By similarity). May be involved in the regulation of MYC activity and the control cell proliferation (PubMed:8782822). Has actin bundling activity and stabilizes actin filaments against depolymerization in vitro (PubMed:28893863).", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499#function" }, { "database": "PubMed", "id": "28893863", "url": "https://glygen.org/publication/PubMed/28893863" }, { "database": "PubMed", "id": "27179792", "url": "https://glygen.org/publication/PubMed/27179792" }, { "database": "UniProtKB", "id": "O08839", "url": "https://www.uniprot.org/uniprot/O08839#function" }, { "database": "PubMed", "id": "24755653", "url": "https://glygen.org/publication/PubMed/24755653" }, { "database": "PubMed", "id": "8782822", "url": "https://glygen.org/publication/PubMed/8782822" } ] }, { "annotation": "This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" } ] } ], "disease": [ { "disease_id": "DOID:0111220", "recommended_name": { "id": "DOID:0111220", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111220", "name": "centronuclear myopathy 2", "description": "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3." }, "synonyms": [ { "id": "DOID:0111220", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111220", "name": "CNM2", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "myopathy, centronuclear, 2", "description": "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene." }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "BIN1 centronuclear myopathy", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "centronuclear myopathy 2", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "centronuclear myopathy caused by mutation in BIN1", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "myopathy, centronuclear, 2", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "myopathy, centronuclear, type 2", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "CNM2", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "myopathy, centronuclear, autosomal recessive", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "myotubular myopathy, autosomal recessive", "description": "" }, { "id": "MIM:255200", "resource": "MIM", "url": "https://www.omim.org/entry/255200", "name": "Myopathy, centronuclear, 2", "description": "Myopathy, centronuclear, 2" } ], "evidence": [ { "id": "255200", "database": "MIM", "url": "https://www.omim.org/entry/255200" } ] } ], "snv": [ { "evidence": [ { "id": "rs767681993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767681993" }, { "id": "rs767681993", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767681993" }, { "id": "rs767681993", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767681993" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 21, "end_pos": 21, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLT->NLT).", "chr_id": "2", "chr_pos": "127106881", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K21", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1416231983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416231983" }, { "id": "rs1416231983", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1416231983#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 262, "end_pos": 262, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQN->NQS).", "chr_id": "2", "chr_pos": "127062187", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N262", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766319258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766319258" }, { "id": "rs766319258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766319258" }, { "id": "rs766319258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766319258#frequency_tab" }, { "id": "rs766319258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766319258" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 264, "end_pos": 264, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "2", "chr_pos": "127062181", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N264", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0111220", "recommended_name": { "id": "DOID:0111220", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111220", "name": "centronuclear myopathy 2", "description": "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3." }, "synonyms": [ { "id": "DOID:0111220", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111220", "name": "CNM2", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "myopathy, centronuclear, 2", "description": "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene." }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "BIN1 centronuclear myopathy", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "centronuclear myopathy 2", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "centronuclear myopathy caused by mutation in BIN1", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "myopathy, centronuclear, 2", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "myopathy, centronuclear, type 2", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "CNM2", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "myopathy, centronuclear, autosomal recessive", "description": "" }, { "id": "MONDO:0009709", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009709", "name": "myotubular myopathy, autosomal recessive", "description": "" }, { "id": "MIM:255200", "resource": "MIM", "url": "https://www.omim.org/entry/255200", "name": "Myopathy, centronuclear, 2", "description": "Myopathy, centronuclear, 2" } ] } ] }, { "evidence": [ { "id": "O00499", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00499" }, { "id": "rs1327705608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327705608" }, { "id": "rs1327705608", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327705608" }, { "id": "rs1327705608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327705608" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 276, "end_pos": 276, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SNT->NNT).", "chr_id": "2", "chr_pos": "127062145", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S276", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "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", "ebi", "germline" ] }, { "evidence": [ { "id": "O00499", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00499" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 290, "end_pos": 290, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "2", "chr_pos": "127059145", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P290", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs369549551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369549551" }, { "id": "rs369549551", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369549551" }, { "id": "rs369549551", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369549551#frequency_tab" }, { "id": "rs369549551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369549551" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 52, "end_pos": 52, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "2", "chr_pos": "127076636", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N52", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772786604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772786604" }, { "id": "rs772786604", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772786604" }, { "id": "rs772786604", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772786604#frequency_tab" }, { "id": "rs772786604", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772786604" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 530, "end_pos": 530, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYT->NYT).", "chr_id": "2", "chr_pos": "127050507", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D530", "disease": [ { "disease_id": "DOID:0111220", "recommended_name": { "id": "DOID:0111220", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111220", "name": "centronuclear myopathy 2", "description": "An 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"https://www.omim.org/entry/255200", "name": "Myopathy, centronuclear, 2", "description": "Myopathy, centronuclear, 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136717", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136717" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136717", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136717" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136717", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136717" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "86.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136717", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136717" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136717", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136717" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136717", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136717" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "83.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136717", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136717" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136717", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136717" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136717", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136717" } ] }, { "tissue": { "name": "Lung", 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", 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"O00499-6", "url": "https://www.uniprot.org/uniprot/O00499-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00499-7", "url": "https://www.uniprot.org/uniprot/O00499-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00499-8", "url": "https://www.uniprot.org/uniprot/O00499-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00499-9", "url": "https://www.uniprot.org/uniprot/O00499-9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKPVSLLEKAAPQWCQGKLQAHLVAQTNLLRNQAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQLRKGPPVPPPPKHTPSKEVKQEQILSLFEDTFVPEISVTTPSQFEAPGPFSEQASLLDLDFDPLPPVTSPVKAPTPSGQSIPWDLWEPTESPAGSLPSGEPSAAEGTFAVSWPSQTAEPGPAQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 593, "header": "sp|O00499-1|BIN1_HUMAN Isoform 1 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "isoforms": [ { "isoform_ac": "O00499-1", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKPVSLLEKAAPQWCQGKLQAHLVAQTNLLRNQAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQLRKGPPVPPPPKHTPSKEVKQEQILSLFEDTFVPEISVTTPSQFEAPGPFSEQASLLDLDFDPLPPVTSPVKAPTPSGQSIPWDLWEPTESPAGSLPSGEPSAAEGTFAVSWPSQTAEPGPAQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 593, "header": "sp|O00499-1|BIN1_HUMAN Isoform 1 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000316724.10", "url": "https://www.ensembl.org/id/ENST00000316724.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000316779.5", "url": "https://www.ensembl.org/id/ENSP00000316779.5" } ] } }, { "isoform_ac": "O00499-10", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPRKKSKLFSRLRRKKNSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 424, "header": "sp|O00499-10|BIN1_HUMAN Isoform 10 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000376113.6", "url": "https://www.ensembl.org/id/ENST00000376113.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000365281.2", "url": "https://www.ensembl.org/id/ENSP00000365281.2" } ] } }, { "isoform_ac": "O00499-11", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPRKKSKLFSRLRRKKNSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQLRKGPPVPPPPKHTPSKEVKQEQILSLFEDTFVPEISVTTPSQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 497, "header": "sp|O00499-11|BIN1_HUMAN Isoform 11 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000259238.8", "url": "https://www.ensembl.org/id/ENST00000259238.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000259238.4", "url": "https://www.ensembl.org/id/ENSP00000259238.4" } ] } }, { "isoform_ac": "O00499-2", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQLRKGPPVPPPPKHTPSKEVKQEQILSLFEDTFVPEISVTTPSQPTESPAGSLPSGEPSAAEGTFAVSWPSQTAEPGPAQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 518, "header": "sp|O00499-2|BIN1_HUMAN Isoform 2 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000346226.7", "url": "https://www.ensembl.org/id/ENST00000346226.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000315411.3", "url": "https://www.ensembl.org/id/ENSP00000315411.3" } ] } }, { "isoform_ac": "O00499-3", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKPVSLLEKAAPQWCQGKLQAHLVAQTNLLRNQAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQPTESPAGSLPSGEPSAAEGTFAVSWPSQTAEPGPAQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 506, "header": "sp|O00499-3|BIN1_HUMAN Isoform 3 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000351659.7", "url": "https://www.ensembl.org/id/ENST00000351659.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000315388.3", "url": "https://www.ensembl.org/id/ENSP00000315388.3" } ] } }, { "isoform_ac": "O00499-4", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQPTESPAGSLPSGEPSAAEGTFAVSWPSQTAEPGPAQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 475, "header": "sp|O00499-4|BIN1_HUMAN Isoform 4 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393041.7", "url": "https://www.ensembl.org/id/ENST00000393041.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000376761.3", "url": "https://www.ensembl.org/id/ENSP00000376761.3" } ] } }, { "isoform_ac": "O00499-5", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKPVSLLEKAAPQWCQGKLQAHLVAQTNLLRNQAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQFEAPGPFSEQASLLDLDFDPLPPVTSPVKAPTPSGQSIPWDLWEPTESPAGSLPSGEPSAAEGTFAVSWPSQTAEPGPAQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 550, "header": "sp|O00499-5|BIN1_HUMAN Isoform 5 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357970.7", "url": "https://www.ensembl.org/id/ENST00000357970.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000350654.3", "url": "https://www.ensembl.org/id/ENSP00000350654.3" } ] } }, { "isoform_ac": "O00499-6", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQLRKGPPVPPPPKHTPSKEVKQEQILSLFEDTFVPEISVTTPSQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 482, "header": "sp|O00499-6|BIN1_HUMAN Isoform 6 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393040.7", "url": "https://www.ensembl.org/id/ENST00000393040.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000376760.3", "url": "https://www.ensembl.org/id/ENSP00000376760.3" } ] } }, { "isoform_ac": "O00499-7", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 439, "header": "sp|O00499-7|BIN1_HUMAN Isoform 7 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409400.1", "url": "https://www.ensembl.org/id/ENST00000409400.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000386797.1", "url": "https://www.ensembl.org/id/ENSP00000386797.1" } ] } }, { "isoform_ac": "O00499-8", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPRKKSKLFSRLRRKKNSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 454, "header": "sp|O00499-8|BIN1_HUMAN Isoform 8 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000352848.8", "url": "https://www.ensembl.org/id/ENST00000352848.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000315284.4", "url": "https://www.ensembl.org/id/ENSP00000315284.4" } ] } }, { "isoform_ac": "O00499-9", "url": "", "sequence": { "sequence": "MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP", "length": 409, "header": "sp|O00499-9|BIN1_HUMAN Isoform 9 of Myc box-dependent-interacting protein 1 OS=Homo sapiens OX=9606 GN=BIN1 PE=1 SV=1 CANONICAL=O00499-1" }, "locus": { "chromosome": "2", "start_pos": 127106943, "end_pos": 127048529, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000348750.8", "url": "https://www.ensembl.org/id/ENST00000348750.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000259237.5", "url": "https://www.ensembl.org/id/ENSP00000259237.5" } ] } } ], "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": 348, "start_aa": "Thr", "end_pos": 348, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr348", "evidence": [ { "id": "O00499", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00499" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O00499", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00499" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 350, "start_aa": "Ser", "end_pos": 350, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser350", "evidence": [ { "id": "O00499", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00499" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O00499", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00499" } ] } ], "phosphorylation": [ { "start_pos": 296, "end_pos": 296, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00499", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00499" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "18510355", "url": 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Neurodegener.", "date": "2016", "authors": "De Rossi Pierre, Buggia-Pr\u00e9vot Virginie, Clayton Benjamin L L, Vasquez Jared B, van Sanford Carson, Andrew Robert J, Lesnick Ruben, Bott\u00e9 Alexandra, Deyts Carole, Salem Someya, Rao Eshaan, Rice Richard C, Parent Ang\u00e8le, Kar Satyabrata, Popko Brian, Pytel Peter, Estus Steven, Thinakaran Gopal", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" } ], "reference": [ { "type": "PubMed", "id": "27488240", "url": "https://glygen.org/publication/PubMed/27488240" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00499", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00499" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Bin1 directly remodels actin dynamics through its BAR domain.", "journal": "EMBO reports", "date": "2017", "authors": "Drager NM, Nachman E, Winterhoff M, Bruhmann S, Shah P, Katsinelos T, Boulant S, Teleman AA, Faix J, Jahn TR", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" } ], "reference": [ { "type": "PubMed", "id": "28893863", "url": "https://glygen.org/publication/PubMed/28893863" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00499", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00499" }, { "database": "O-GlcNAc Atlas", "id": "O00499", "url": "https://oglcnac.org/atlas/detail/O00499" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.", "journal": "Neurology", "date": "2018", "authors": "Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernandez-Lain A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Avila R, Dominguez C, Romero NB, Vilchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" } ], "reference": [ { "type": "PubMed", "id": "29950440", "url": "https://glygen.org/publication/PubMed/29950440" } ] }, { "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": "O00499", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00499" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "title": "Genetic polymorphism in BIN1 rather than APOE is associated with poor recognition memory among men without dementia.", "journal": "Scientific reports", "date": "2022-10-24", "authors": "Mehta Kanika, Mohebbi Mohammadreza, Pasco Julie A, Williams Lana J, Walder Ken, Ng Boon Lung, Gupta Veer Bala", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" } ], "reference": [ { "type": "PubMed", "id": "36280690", "url": "https://glygen.org/publication/PubMed/36280690" } ] }, { "title": "BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.", "journal": "Circulation research", "date": "2023-05-04", "authors": "Perdreau-Dahl Harmonie, Lipsett David B, Frisk Michael, Kermani Fatemeh, Carlson Cathrine R, Brech Andreas, Shen Xin, Bergan-Dahl Anna, Hou Yufeng, Tuomainen Tomi, Tavi Pasi, Jones Peter P, Lunde Marianne, Wasserstrom J Andrew, Laporte Jocelyn, Ullrich Nina D, Christensen Geir, Morth J Preben, Louch William E", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" } ], "reference": [ { "type": "PubMed", "id": "37139790", "url": "https://glygen.org/publication/PubMed/37139790" } ] }, { "title": "High Indoleamine 2,3-Dioxygenase Expression along with Low Bridging Integrator-1 Expression in Hepatocellular Carcinoma Patients.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2023-05-01", "authors": "Asghar Kashif, Rana Iftikhar Ali, Abubakar Muhammad, Hasham Kinza, Tahseen Muhammad, Bilal Sundus, Mehmood Shafqat, Farooq Asim, Siddique Kashif, Loya Asif", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" } ], "reference": [ { "type": "PubMed", "id": "37247278", "url": "https://glygen.org/publication/PubMed/37247278" } ] }, { "title": "APOE-\u03b54 and BIN1 increase risk of Alzheimer's disease pathology but not specifically of Lewy body pathology.", "journal": "Acta neuropathologica communications", "date": "2023-09-12", "authors": "Talyansky Seth, Le Guen Yann, Kasireddy Nandita, Belloy Michael E, Greicius Michael D", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" } ], "reference": [ { "type": "PubMed", "id": "37700353", "url": "https://glygen.org/publication/PubMed/37700353" } ] }, { "title": "BIN1 in the Pursuit of Ousting the Alzheimer's Reign: Impact on Amyloid and Tau Neuropathology.", "journal": "Neurotoxicity research", "date": "2023-12", "authors": "Kaur Ishnoor, Behl Tapan, Sundararajan G, Panneerselvam P, Vijayakumar A R, Senthilkumar G P, Venkatachalam T, Jaglan Dharmender, Yadav Shivam, Anwer Khalid, Fuloria Neeraj Kumar, Sehgal Aayush, Gulati Monica, Chigurupati Sridevi", "evidence": [ { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" } ], "reference": [ { "type": "PubMed", "id": "37847429", "url": "https://glygen.org/publication/PubMed/37847429" } ] }, { "title": "An enzyme that removes clathrin coats: purification of an uncoating ATPase.", "journal": "The Journal of cell biology", "date": "1984", "authors": "Schlossman DM, Schmid SL, Braell WA, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "6146630", "url": "https://glygen.org/publication/PubMed/6146630" } ] }, { "title": "Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.", "journal": "Nature", "date": "1995", "authors": "Hinshaw JE, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "7877694", "url": "https://glygen.org/publication/PubMed/7877694" } ] }, { "title": "Role of auxilin in uncoating clathrin-coated vesicles.", "journal": "Nature", "date": "1995", "authors": "Ungewickell E, Ungewickell H, Holstein SE, Lindner R, Prasad K, Barouch W, Martin B, Greene LE, Eisenberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "8524399", "url": "https://glygen.org/publication/PubMed/8524399" } ] }, { "title": "A role of amphiphysin in synaptic vesicle endocytosis suggested by its binding to dynamin in nerve terminals.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "David C, McPherson PS, Mundigl O, de Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "8552632", "url": "https://glygen.org/publication/PubMed/8552632" } ] }, { "title": "BIN1 is a novel MYC-interacting protein with features of a tumour suppressor.", "journal": "Nature genetics", "date": "1996", "authors": "Sakamuro D, Elliott KJ, Wechsler-Reya R, Prendergast GC", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" }, { "database": "RefSeq", "id": "NP_001307561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307561" } ], "reference": [ { "type": "PubMed", "id": "8782822", "url": "https://glygen.org/publication/PubMed/8782822" } ] }, { "title": "Synaptic vesicle endocytosis impaired by disruption of dynamin-SH3 domain interactions.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Shupliakov O, Low P, Grabs D, Gad H, Chen H, David C, Takei K, De Camilli P, Brodin L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9092476", "url": "https://glygen.org/publication/PubMed/9092476" } ] }, { "title": "Auxilin-induced interaction of the molecular chaperone Hsc70 with clathrin baskets.", "journal": "Biochemistry", "date": "1997", "authors": "Barouch W, Prasad K, Greene L, Eisenberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9100026", "url": "https://glygen.org/publication/PubMed/9100026" } ] }, { "title": "Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of Ranvier in brain and around T tubules in skeletal muscle.", "journal": "J. Cell Biol.", "date": "1997", "authors": "Butler M H, David C, Ochoa G C, Freyberg Z, Daniell L, Grabs D, Cremona O, De Camilli P", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" } ], "reference": [ { "type": "PubMed", "id": "9182667", "url": "https://glygen.org/publication/PubMed/9182667" } ] }, { "title": "Identification and characterization of a nerve terminal-enriched amphiphysin isoform.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Ramjaun A R, Micheva K D, Bouchelet I, McPherson P S", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" } ], "reference": [ { "type": "PubMed", "id": "9195986", "url": "https://glygen.org/publication/PubMed/9195986" } ] }, { "title": "cDNA cloning of a novel amphiphysin isoform and tissue-specific expression of its multiple splice variants.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1997", "authors": "Tsutsui K, Maeda Y, Tsutsui K, Seki S, Tokunaga A", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" } ], "reference": [ { "type": "PubMed", "id": "9223448", "url": "https://glygen.org/publication/PubMed/9223448" } ] }, { "title": "Structural analysis of the human BIN1 gene. Evidence for tissue-specific transcriptional regulation and alternate RNA splicing.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Wechsler-Reya R, Sakamuro D, Zhang J, Duhadaway J, Prendergast G C", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" } ], "reference": [ { "type": "PubMed", "id": "9395479", "url": "https://glygen.org/publication/PubMed/9395479" } ] }, { "title": "A role for the putative tumor suppressor Bin1 in muscle cell differentiation.", "journal": "Mol. Cell. Biol.", "date": "1998", "authors": "Wechsler-Reya R J, Elliott K J, Prendergast G C", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" } ], "reference": [ { "type": "PubMed", "id": "9418903", "url": "https://glygen.org/publication/PubMed/9418903" } ] }, { "title": "A novel role for Rab5-GDI in ligand sequestration into clathrin-coated pits.", "journal": "Current biology : CB", "date": "1998", "authors": "McLauchlan H, Newell J, Morrice N, Osborne A, West M, Smythe E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9427626", "url": "https://glygen.org/publication/PubMed/9427626" } ] }, { "title": "Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15.", "journal": "FEBS letters", "date": "1997", "authors": "Haffner C, Takei K, Chen H, Ringstad N, Hudson A, Butler MH, Salcini AE, Di Fiore PP, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9428629", "url": "https://glygen.org/publication/PubMed/9428629" } ] }, { "title": "Multiple amphiphysin II splice variants display differential clathrin binding: identification of two distinct clathrin-binding sites.", "journal": "J. Neurochem.", "date": "1998", "authors": "Ramjaun A R, McPherson P S", "evidence": [ { "database": "UniProtKB", "id": "O00499", "url": "https://www.uniprot.org/uniprot/O00499" } ], "reference": [ { "type": "PubMed", "id": "9603201", "url": "https://glygen.org/publication/PubMed/9603201" } ] }, { "title": "Dynamin undergoes a GTP-dependent conformational change causing vesiculation.", "journal": "Cell", "date": "1998", "authors": "Sweitzer SM, Hinshaw JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9635431", "url": "https://glygen.org/publication/PubMed/9635431" } ] }, { "title": "Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation.", "journal": "The EMBO journal", "date": "1998", "authors": "Owen DJ, Wigge P, Vallis Y, Moore JD, Evans PR, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9736607", "url": "https://glygen.org/publication/PubMed/9736607" } ] } ], "pathway": [ { "id": "hsa:274", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:274", "resource": "KEGG Pathway" }, { "id": "R-HSA-8856828", "name": "Clathrin-mediated endocytosis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828", "resource": "Reactome", "description": "Clathrin-mediated endocytosis" } ], "orthologs": [ { "uniprot_canonical_ac": "O08539-1", "protein_name": "Myc box-dependent-interacting protein 1", "gene_name": "Bin1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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