{ "uniprot_canonical_ac": "O00429-1", "uniprot_ac": "O00429", "uniprot_id": "DNM1L_HUMAN", "mass": { "chemical_mass": 81877.0, "monoisotopic_mass": 81877.0 }, "refseq": { "ac": "NP_001265392", "name": "dynamin-1-like protein isoform 4", "summary": "This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" }, "gene_names": [ { "name": "DNM1L", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00429", "id": "O00429" }, { "name": "DLP1; DRP1; DVLP; DYMPLE; EMPF; EMPF1; HDYNIV; OPA5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392", "id": "NP_001265392" }, { "name": "DLP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00429", "id": "O00429" }, { "name": "DNM1L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392", "id": "NP_001265392" }, { "name": "DRP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00429", "id": "O00429" }, { "name": "hCG_1810949", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00429", "id": "O00429" } ], "protein_names": [ { "name": "Dynamin-1-like protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00429" }, { "name": "3.6.5.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00429" }, { "name": "DVLP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00429" }, { "name": "Dnm1p/Vps1p-like protein; dynamin family member proline-rich carboxyl-terminal domain less; dynamin-like protein 4; dynamin-like protein IV; dynamin-related protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392", "id": "NP_001265392" }, { "name": "Dnm1p/Vps1p-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00429" }, { "name": "Dymple", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00429" }, { "name": "Dynamin family member proline-rich carboxyl-terminal domain less", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00429" }, { "name": "Dynamin-like protein 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00429" }, { "name": "Dynamin-like protein IV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00429" }, { "name": "Dynamin-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00429" }, { "name": "Dynamin-related protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00429" }, { "name": "HdynIV", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00429" }, { "name": "dynamin-1-like protein isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392", "id": "NP_001265392" } ], "function": [ { "annotation": "A conserved, noncanonical insert in FIS1 mediates TBC1D15 and DRP1 recruitment for mitochondrial fission.", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" }, { "database": "PubMed", "id": "37777154", "url": "https://glygen.org/publication/PubMed/37777154" } ] }, { "annotation": "Effects of phosphorylation on Drp1 activation by its receptors, actin, and cardiolipin.", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" }, { "database": "PubMed", "id": "38019609", "url": "https://glygen.org/publication/PubMed/38019609" } ] }, { "annotation": "Functions in mitochondrial and peroxisomal division (PubMed:9570752, PubMed:9786947, PubMed:11514614, PubMed:12499366, PubMed:17301055, PubMed:17553808, PubMed:17460227, PubMed:18695047, PubMed:18838687, PubMed:19638400, PubMed:19411255, PubMed:19342591, PubMed:23921378, PubMed:23283981, PubMed:23530241, PubMed:29478834, PubMed:32484300, PubMed:27145208, PubMed:26992161, PubMed:27301544, PubMed:27328748). Mediates membrane fission through oligomerization into membrane-associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism (PubMed:23530241, PubMed:23584531, PubMed:33850055). The specific recruitment at scission sites is mediated by membrane receptors like MFF, MIEF1 and MIEF2 for mitochondrial membranes (PubMed:23921378, PubMed:23283981, PubMed:29899447). While the recruitment by the membrane receptors is GTP-dependent, the following hydrolysis of GTP induces the dissociation from the receptors and allows DNM1L filaments to curl into closed rings that are probably sufficient to sever a double membrane (PubMed:29899447). Acts downstream of PINK1 to promote mitochondrial fission in a PRKN-dependent manner (PubMed:32484300). Plays an important role in mitochondrial fission during mitosis (PubMed:19411255, PubMed:26992161, PubMed:27301544, PubMed:27328748). Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage (By similarity). Required for normal brain development, including that of cerebellum (PubMed:17460227, PubMed:27145208, PubMed:26992161, PubMed:27301544, PubMed:27328748). Facilitates developmentally regulated apoptosis during neural tube formation (By similarity). Required for a normal rate of cytochrome c release and caspase activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues (By similarity). Required for formation of endocytic vesicles (PubMed:9570752, PubMed:20688057, PubMed:23792689). Proposed to regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing vesicles (PubMed:17015472, PubMed:23792689). Required for programmed necrosis execution (PubMed:22265414). Rhythmic control of its activity following phosphorylation at Ser-637 is essential for the circadian control of mitochondrial ATP production (PubMed:29478834).", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429#function" }, { "database": "PubMed", "id": "11514614", "url": "https://glygen.org/publication/PubMed/11514614" }, { "database": "PubMed", "id": "27145208", "url": "https://glygen.org/publication/PubMed/27145208" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" }, { "database": "PubMed", "id": "20688057", "url": "https://glygen.org/publication/PubMed/20688057" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" }, { "database": "PubMed", "id": "9786947", "url": "https://glygen.org/publication/PubMed/9786947" }, { "database": "PubMed", "id": "26992161", "url": "https://glygen.org/publication/PubMed/26992161" }, { "database": "PubMed", "id": "23530241", "url": "https://glygen.org/publication/PubMed/23530241" }, { "database": "PubMed", "id": "23792689", "url": "https://glygen.org/publication/PubMed/23792689" }, { "database": "PubMed", "id": "18838687", "url": "https://glygen.org/publication/PubMed/18838687" }, { "database": "PubMed", "id": "23584531", "url": "https://glygen.org/publication/PubMed/23584531" }, { "database": "UniProtKB", "id": "Q8K1M6", "url": "https://www.uniprot.org/uniprot/Q8K1M6#function" }, { "database": "PubMed", "id": "22265414", "url": "https://glygen.org/publication/PubMed/22265414" }, { "database": "PubMed", "id": "18695047", "url": "https://glygen.org/publication/PubMed/18695047" }, { "database": "PubMed", "id": "17301055", "url": "https://glygen.org/publication/PubMed/17301055" }, { "database": "PubMed", "id": "29478834", "url": "https://glygen.org/publication/PubMed/29478834" }, { "database": "PubMed", "id": "23283981", "url": "https://glygen.org/publication/PubMed/23283981" }, { "database": "PubMed", "id": "19411255", "url": "https://glygen.org/publication/PubMed/19411255" }, { "database": "PubMed", "id": "32484300", "url": "https://glygen.org/publication/PubMed/32484300" }, { "database": "PubMed", "id": "17553808", "url": "https://glygen.org/publication/PubMed/17553808" }, { "database": "PubMed", "id": "17460227", "url": "https://glygen.org/publication/PubMed/17460227" }, { "database": "PubMed", "id": "17015472", "url": "https://glygen.org/publication/PubMed/17015472" }, { "database": "PubMed", "id": "23921378", "url": "https://glygen.org/publication/PubMed/23921378" }, { "database": "PubMed", "id": "27301544", "url": "https://glygen.org/publication/PubMed/27301544" }, { "database": "PubMed", "id": "27328748", "url": "https://glygen.org/publication/PubMed/27328748" }, { "database": "PubMed", "id": "12499366", "url": "https://glygen.org/publication/PubMed/12499366" }, { "database": "PubMed", "id": "9570752", "url": "https://glygen.org/publication/PubMed/9570752" }, { "database": "PubMed", "id": "29899447", "url": "https://glygen.org/publication/PubMed/29899447" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "annotation": "Inhibits peroxisomal division when overexpressed.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429#function" }, { "database": "PubMed", "id": "12618434", "url": "https://glygen.org/publication/PubMed/12618434" } ] }, { "annotation": "Matrix stiffness induces Drp1-mediated mitochondrial fission through Piezo1 mechanotransduction in human intervertebral disc degeneration. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" }, { "database": "PubMed", "id": "37817199", "url": "https://glygen.org/publication/PubMed/37817199" } ] }, { "annotation": "Targeting dynamin-related protein-1 as a potential therapeutic approach for mitochondrial dysfunction in Alzheimer's disease. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" }, { "database": "PubMed", "id": "37392948", "url": "https://glygen.org/publication/PubMed/37392948" } ] }, { "annotation": "The Role of Mitochondrial Dynamics and Mitotic Fission in Regulating the Cell Cycle in Cancer and Pulmonary Arterial Hypertension: Implications for Dynamin-Related Protein 1 and Mitofusin2 in Hyperproliferative Diseases. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" }, { "database": "PubMed", "id": "37508561", "url": "https://glygen.org/publication/PubMed/37508561" } ] }, { "annotation": "This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" } ] } ], "disease": [ { "disease_id": "DOID:0070347", "recommended_name": { "id": "DOID:0070347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070347", "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood." }, "synonyms": [ { "id": "MONDO:0013726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013726", "name": "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1", "description": "" }, { "id": "MONDO:0013726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013726", "name": "DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect", "description": "" }, { "id": "MONDO:0013726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013726", "name": "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1", "description": "" }, { "id": "MONDO:0013726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013726", "name": "lethal encephalopathy due to mitochondrial and peroxisomal fission defect", "description": "" }, { "id": "MONDO:0013726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013726", "name": "EMPF", "description": "" }, { "id": "MONDO:0013726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013726", "name": "EMPF1", "description": "" }, { "id": "MONDO:0013726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013726", "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 1", "description": "" }, { "id": "MONDO:0013726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013726", "name": "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission", "description": "" }, { "id": "MIM:614388", "resource": "MIM", "url": "https://www.omim.org/entry/614388", "name": "Encephalopathy due to defective mitochondrial and peroxisomal fission 1", "description": "Encephalopathy due to defective mitochondrial and peroxisomal fission 1" } ], "evidence": [ { "id": "614388", "database": "MIM", "url": "https://www.omim.org/entry/614388" } ] }, { "disease_id": "DOID:0111438", "recommended_name": { "id": "DOID:0111438", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111438", "name": "optic atrophy 5", "description": "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21." }, "synonyms": [ { "id": "DOID:0111438", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111438", "name": "OPA5", "description": "" }, { "id": "MONDO:0012543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012543", "name": "optic atrophy 5", "description": "" }, { "id": "MONDO:0012543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012543", "name": "OPA5", "description": "" }, { "id": "MONDO:0012543", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012543", "name": "optic atrophy 5", "description": "" }, { "id": "MIM:610708", "resource": "MIM", "url": "https://www.omim.org/entry/610708", "name": "Optic atrophy 5", "description": "Optic atrophy 5" } ], "evidence": [ { "id": "610708", "database": "MIM", "url": "https://www.omim.org/entry/610708" } ] } ], "snv": [ { "evidence": [ { "id": "O00429", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00429" }, { "id": "rs758981725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758981725" }, { "id": "rs758981725", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758981725" }, { "id": "rs758981725", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758981725" }, { "id": "rs758981725", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758981725#frequency_tab" }, { "id": "rs758981725", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758981725" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 330, "end_pos": 330, "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 (SAT->NAT).", "chr_id": "12", "chr_pos": "32722543", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S330", "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": "O00429", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00429" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 38, "end_pos": 38, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "12", "chr_pos": "32701426", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K38", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": 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Impairs mitochondrial division.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "11514614", "url": "https://glygen.org/publication/PubMed/11514614" } ] }, { "start_pos": 300, "end_pos": 300, "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" } ] }, { "start_pos": 345, "end_pos": 345, "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" } ] }, { "start_pos": 34, "end_pos": 34, "sequence_org": "Q", "sequence_mut": "A", "comment": "Abolishes GTP hydrolysis.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "23977156", "url": "https://glygen.org/publication/PubMed/23977156" } ] }, { "start_pos": 361, "end_pos": 361, "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" } ] }, { "start_pos": 367, "end_pos": 367, "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" } ] }, { "start_pos": 38, "end_pos": 38, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of GTPase activity. Impairs mitochondrial division and induces changes in peroxisome morphology. No effect on oligomerization. Increase in sumoylation by SUMO3.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "11514614", "url": "https://glygen.org/publication/PubMed/11514614" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" }, { "database": "PubMed", "id": "23977156", "url": "https://glygen.org/publication/PubMed/23977156" }, { "database": "PubMed", "id": "12499366", "url": "https://glygen.org/publication/PubMed/12499366" }, { "database": "PubMed", "id": "15208300", "url": "https://glygen.org/publication/PubMed/15208300" }, { "database": "PubMed", "id": "9570752", "url": "https://glygen.org/publication/PubMed/9570752" } ] }, { "start_pos": 38, "end_pos": 38, "sequence_org": "K", "sequence_mut": "E", "comment": "Overexpression delays protein secretion. Rescues fragmented or truncated mitochondria in PRKN- or PINK1-depleted cells.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "11514614", "url": "https://glygen.org/publication/PubMed/11514614" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" }, { "database": "PubMed", "id": "23977156", "url": "https://glygen.org/publication/PubMed/23977156" }, { "database": "PubMed", "id": "12499366", "url": "https://glygen.org/publication/PubMed/12499366" }, { "database": "PubMed", "id": "15208300", "url": "https://glygen.org/publication/PubMed/15208300" }, { "database": "PubMed", "id": "9570752", "url": "https://glygen.org/publication/PubMed/9570752" } ] }, { "start_pos": 39, "end_pos": 39, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes GTP hydrolysis.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "23977156", "url": "https://glygen.org/publication/PubMed/23977156" }, { "database": "PubMed", "id": "9422767", "url": "https://glygen.org/publication/PubMed/9422767" }, { "database": "PubMed", "id": "12618434", "url": "https://glygen.org/publication/PubMed/12618434" } ] }, { "start_pos": 39, "end_pos": 39, "sequence_org": "S", "sequence_mut": "I", "comment": "Decreased localization to the perinuclear region.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "23977156", "url": "https://glygen.org/publication/PubMed/23977156" }, { "database": "PubMed", "id": "9422767", "url": "https://glygen.org/publication/PubMed/9422767" }, { "database": "PubMed", "id": "12618434", "url": "https://glygen.org/publication/PubMed/12618434" } ] }, { "start_pos": 39, "end_pos": 39, "sequence_org": "S", "sequence_mut": "N", "comment": "Reduces peroxisomal abundance.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "23977156", "url": "https://glygen.org/publication/PubMed/23977156" }, { "database": "PubMed", "id": "9422767", "url": "https://glygen.org/publication/PubMed/9422767" }, { "database": "PubMed", "id": "12618434", "url": "https://glygen.org/publication/PubMed/12618434" } ] }, { "start_pos": 401, "end_pos": 404, "sequence_org": "GPRP", "sequence_mut": "AAAA", "comment": "Impairs formation of higher order oligomers, but not homodimerization.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "23584531", "url": "https://glygen.org/publication/PubMed/23584531" } ] }, { "start_pos": 41, "end_pos": 41, "sequence_org": "V", "sequence_mut": "F", "comment": "Temperature-sensitive. Impairs mitochondrial division.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "11514614", "url": "https://glygen.org/publication/PubMed/11514614" } ] }, { "start_pos": 431, "end_pos": 431, "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" } ] }, { "start_pos": 446, "end_pos": 446, "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" } ] }, { "start_pos": 470, "end_pos": 470, "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" } ] }, { "start_pos": 490, "end_pos": 490, "sequence_org": "E", "sequence_mut": "A", "comment": "Does not impair homodimerization and formation of higher order oligomers.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "23584531", "url": "https://glygen.org/publication/PubMed/23584531" } ] }, { "start_pos": 490, "end_pos": 490, "sequence_org": "E", "sequence_mut": "R", "comment": "Impairs homodimerization and formation of higher order oligomers.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "23584531", "url": "https://glygen.org/publication/PubMed/23584531" } ] }, { "start_pos": 505, "end_pos": 505, "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" } ] }, { "start_pos": 532, "end_pos": 532, "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-535; R-558 and R-568.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" } ] }, { "start_pos": 535, "end_pos": 535, "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-532; R-558 and R-568.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" } ] }, { "start_pos": 558, "end_pos": 558, "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-532; R-535 and R-568.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" } ] }, { "start_pos": 568, "end_pos": 568, "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-532; R-535 and R-558.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" } ] }, { "start_pos": 594, "end_pos": 594, "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-597; R-606 and R-608.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" } ] }, { "start_pos": 597, "end_pos": 597, "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-594; R-606 and R-608.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" } ] }, { "start_pos": 59, "end_pos": 59, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes GTP hydrolysis. Impairs mitochondrial division. Reduces peroxisomal abundance.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "11514614", "url": "https://glygen.org/publication/PubMed/11514614" }, { "database": "PubMed", "id": "23977156", "url": "https://glygen.org/publication/PubMed/23977156" }, { "database": "PubMed", "id": "12618434", "url": "https://glygen.org/publication/PubMed/12618434" } ] }, { "start_pos": 606, "end_pos": 606, "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-594; R-597 and R-608.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" } ] }, { "start_pos": 608, "end_pos": 608, "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-594; R-597 and R-606.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" } ] }, { "start_pos": 616, "end_pos": 616, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of activity. Little effect on mitochondrial morphology. Translocated to mitochondria.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "18838687", "url": "https://glygen.org/publication/PubMed/18838687" }, { "database": "PubMed", "id": "32484300", "url": "https://glygen.org/publication/PubMed/32484300" } ] }, { "start_pos": 637, "end_pos": 637, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation. Reduces interaction with MIEF1 and MIEF2. Promotes mitochondrial fission and cell vulnerability to apoptotic insults. Mostly mitochondrial. Disrupts, in vitro, binding to FIS1.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "18838687", "url": "https://glygen.org/publication/PubMed/18838687" }, { "database": "PubMed", "id": "18695047", "url": "https://glygen.org/publication/PubMed/18695047" }, { "database": "PubMed", "id": "23283981", "url": "https://glygen.org/publication/PubMed/23283981" }, { "database": "PubMed", "id": "17553808", "url": "https://glygen.org/publication/PubMed/17553808" } ] }, { "start_pos": 637, "end_pos": 637, "sequence_org": "S", "sequence_mut": "D", "comment": "Impairs intramolecular interactions but not homooligomerization. Does not reduce interaction with MIEF1 and MIEF2. Impairs formation of higher order oligomers but not homodimerization. Unable to associate with MIEF2 into filaments forming the tubular structures that wrap around the scission site. Slight reduction in GTPase activity. Inhibits mitochondrial fission. Retained in the cytoplasm.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "18838687", "url": "https://glygen.org/publication/PubMed/18838687" }, { "database": "PubMed", "id": "18695047", "url": "https://glygen.org/publication/PubMed/18695047" }, { "database": "PubMed", "id": "23283981", "url": "https://glygen.org/publication/PubMed/23283981" }, { "database": "PubMed", "id": "17553808", "url": "https://glygen.org/publication/PubMed/17553808" }, { "database": "PubMed", "id": "29899447", "url": "https://glygen.org/publication/PubMed/29899447" } ] }, { "start_pos": 644, "end_pos": 644, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes S-nitrosylation. Reduced dimerization and no enhancement of GTPase activity.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" } ] }, { "start_pos": 668, "end_pos": 668, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes homodimerization and formation of higher order oligomers.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "23584531", "url": "https://glygen.org/publication/PubMed/23584531" } ] }, { "start_pos": 679, "end_pos": 679, "sequence_org": "K", "sequence_mut": "A", "comment": "Diminishes intramolecular interaction between GTP-middle domain and GED domain but no effect on homooligomerization. Marked reduction in GTPase activity, in vitro. Decreased mitochondrial division.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "15208300", "url": "https://glygen.org/publication/PubMed/15208300" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "73.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "95.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "80.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087470" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00429" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", 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"MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", 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}, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00429" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00429" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKLIQDSRRETKNVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 736, "header": "sp|O00429-1|DNM1L_HUMAN Isoform 1 of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TQT5-1", "url": "", "sequence": { "sequence": "MTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKLIQDSRRETKNVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 587, "header": "tr|A0A8V8TQT5-1|A0A8V8TQT5_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32711007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549926.6", "url": "https://www.ensembl.org/id/ENST00000549926.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000515263.1", "url": "https://www.ensembl.org/id/ENSP00000515263.1" } ] } }, { "isoform_ac": "A0A8V8TQV1-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENDPATWKNSRHLSKGFLYPFAFDPFFLLCLHVCLCTITGCVYFFFFHFYLPIHIDCRF", "length": 140, "header": "tr|A0A8V8TQV1-1|A0A8V8TQV1_HUMAN Computationally mapped isoform of Dynamin 1 like OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32705994, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550011.6", "url": "https://www.ensembl.org/id/ENST00000550011.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000515261.1", "url": "https://www.ensembl.org/id/ENSP00000515261.1" } ] } }, { "isoform_ac": "A0A8V8TRA9-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENDPATWKNSRHLSKASTRGTDL", "length": 104, "header": "tr|A0A8V8TRA9-1|DNM1L_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32706592, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703337.1", "url": "https://www.ensembl.org/id/ENST00000703337.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515262.1", "url": "https://www.ensembl.org/id/ENSP00000515262.1" } ] } }, { "isoform_ac": "A0A994J3F1-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKDTTLYRFISSLTGHSFSVSFAVSSHLPNV", "length": 181, "header": "tr|A0A994J3F1-1|A0A994J3F1_HUMAN Computationally mapped isoform of Dynamin 1 like OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32711266, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548671.6", "url": "https://www.ensembl.org/id/ENST00000548671.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000515271.1", "url": "https://www.ensembl.org/id/ENSP00000515271.1" } ] } }, { "isoform_ac": "A0A994J3G1-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELNHILHCLSDAVVLEFVIFSMRLLGEP", "length": 386, "header": "tr|A0A994J3G1-1|A0A994J3G1_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32731066, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703365.1", "url": "https://www.ensembl.org/id/ENST00000703365.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515276.1", "url": "https://www.ensembl.org/id/ENSP00000515276.1" } ] } }, { "isoform_ac": "A0A994J3G5-1", "url": "", "sequence": { "sequence": "MTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKLIQDSRRETKNVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 561, "header": "tr|A0A994J3G5-1|A0A994J3G5_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32711007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703371.1", "url": "https://www.ensembl.org/id/ENST00000703371.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515281.1", "url": "https://www.ensembl.org/id/ENSP00000515281.1" } ] } }, { "isoform_ac": "A0A994J3M8-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 602, "header": "tr|A0A994J3M8-1|A0A994J3M8_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703369.1", "url": "https://www.ensembl.org/id/ENST00000703369.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515279.1", "url": "https://www.ensembl.org/id/ENSP00000515279.1" } ] } }, { "isoform_ac": "A0A994J402-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 576, "header": "tr|A0A994J402-1|DNM1L_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703361.1", "url": "https://www.ensembl.org/id/ENST00000703361.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515273.1", "url": "https://www.ensembl.org/id/ENSP00000515273.1" } ] } }, { "isoform_ac": "A0A994J409-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENDPATWKNSRHLSKGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKDTTLYRFISSLTGHSFSVSFAVSSHLPNV", "length": 194, "header": "tr|A0A994J409-1|A0A994J409_HUMAN Computationally mapped isoform of Dynamin 1 like OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32711266, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703368.1", "url": "https://www.ensembl.org/id/ENST00000703368.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515278.1", "url": "https://www.ensembl.org/id/ENSP00000515278.1" } ] } }, { "isoform_ac": "A0A994J691-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKVAEP", "length": 103, "header": "tr|A0A994J691-1|A0A994J691_HUMAN Computationally mapped isoform of Dynamin 1 like OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32718654, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547932.6", "url": "https://www.ensembl.org/id/ENST00000547932.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000515272.1", "url": "https://www.ensembl.org/id/ENSP00000515272.1" } ] } }, { "isoform_ac": "A0A994J696-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKVCSDS", "length": 563, "header": "tr|A0A994J696-1|A0A994J696_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32737957, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703367.1", "url": "https://www.ensembl.org/id/ENST00000703367.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515277.1", "url": "https://www.ensembl.org/id/ENSP00000515277.1" } ] } }, { "isoform_ac": "A0A994J6A0-1", "url": "", "sequence": { "sequence": "MRELFKGTASCGSTGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPV", "length": 409, "header": "tr|A0A994J6A0-1|A0A994J6A0_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32731931, "end_pos": 32706772, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703372.1", "url": "https://www.ensembl.org/id/ENST00000703372.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515282.1", "url": "https://www.ensembl.org/id/ENSP00000515282.1" } ] } }, { "isoform_ac": "A0A994J6L3-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKCLKDEKSPNPKSMKHLFFPKSRSKP", "length": 148, "header": "tr|A0A994J6L3-1|A0A994J6L3_HUMAN Computationally mapped isoform of Dynamin 1 like OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32710939, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551076.6", "url": "https://www.ensembl.org/id/ENST00000551076.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000515275.1", "url": "https://www.ensembl.org/id/ENSP00000515275.1" } ] } }, { "isoform_ac": "A0A994J6L8-1", "url": "", "sequence": { "sequence": "MTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 576, "header": "tr|A0A994J6L8-1|A0A994J6L8_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32711007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703370.1", "url": "https://www.ensembl.org/id/ENST00000703370.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515280.1", "url": "https://www.ensembl.org/id/ENSP00000515280.1" } ] } }, { "isoform_ac": "B4DDQ3-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGAS", "length": 180, "header": "tr|B4DDQ3-1|B4DDQ3_HUMAN Computationally mapped isoform of cDNA FLJ59840, highly similar to Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32720671, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413295.6", "url": "https://www.ensembl.org/id/ENST00000413295.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000396030.2", "url": "https://www.ensembl.org/id/ENSP00000396030.2" } ] } }, { "isoform_ac": "B4DPZ9-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVAEP", "length": 156, "header": "tr|B4DPZ9-1|B4DPZ9_HUMAN Computationally mapped isoform of cDNA FLJ59948, highly similar to Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32718654, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434676.7", "url": "https://www.ensembl.org/id/ENST00000434676.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000390090.2", "url": "https://www.ensembl.org/id/ENSP00000390090.2" } ] } }, { "isoform_ac": "F8VR28-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENVPRENSLDPGGKSP", "length": 97, "header": "tr|F8VR28-1|DNM1L_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32706730, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551643.6", "url": "https://www.ensembl.org/id/ENST00000551643.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000450401.1", "url": "https://www.ensembl.org/id/ENSP00000450401.1" } ] } }, { "isoform_ac": "F8VUJ9-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRDPATWKNSRHLSKGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKLIQDSRRETKNVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 719, "header": "tr|F8VUJ9-1|F8VUJ9_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551476.6", "url": "https://www.ensembl.org/id/ENST00000551476.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000447845.2", "url": "https://www.ensembl.org/id/ENSP00000447845.2" } ] } }, { "isoform_ac": "F8VYL3-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENDPATWKNSRHLSKGVEAEEWGKFLHTKNKEPARY", "length": 117, "header": "tr|F8VYL3-1|DNM1L_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=1 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32720678, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546649.5", "url": "https://www.ensembl.org/id/ENST00000546649.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448936.1", "url": "https://www.ensembl.org/id/ENSP00000448936.1" } ] } }, { "isoform_ac": "F8VZ52-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 696, "header": "tr|F8VZ52-1|F8VZ52_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548750.6", "url": "https://www.ensembl.org/id/ENST00000548750.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000447788.2", "url": "https://www.ensembl.org/id/ENSP00000447788.2" } ] } }, { "isoform_ac": "F8W1W3-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMA", "length": 168, "header": "tr|F8W1W3-1|F8W1W3_HUMAN Computationally mapped isoform of Dynamin 1 like OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=8 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32713328, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550154.5", "url": "https://www.ensembl.org/id/ENST00000550154.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447013.1", "url": "https://www.ensembl.org/id/ENSP00000447013.1" } ] } }, { "isoform_ac": "H0YHY4-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENALHGF", "length": 88, "header": "tr|H0YHY4-1|H0YHY4_HUMAN Computationally mapped isoform of Dynamin 1 like OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32708166, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546757.6", "url": "https://www.ensembl.org/id/ENST00000546757.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000448105.2", "url": "https://www.ensembl.org/id/ENSP00000448105.2" } ] } }, { "isoform_ac": "H0YI79-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENDPATWKNSRHLSKGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMCIWVLGSGW", "length": 504, "header": "tr|H0YI79-1|H0YI79_HUMAN Computationally mapped isoform of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32732564, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547078.6", "url": "https://www.ensembl.org/id/ENST00000547078.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000448802.2", "url": "https://www.ensembl.org/id/ENSP00000448802.2" } ] } }, { "isoform_ac": "O00429-1", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKLIQDSRRETKNVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 736, "header": "sp|O00429-1|DNM1L_HUMAN Isoform 1 of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549701.6", "url": "https://www.ensembl.org/id/ENST00000549701.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000450399.1", "url": "https://www.ensembl.org/id/ENSP00000450399.1" } ] } }, { "isoform_ac": "O00429-2", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 725, "header": "sp|O00429-2|DNM1L_HUMAN Isoform 2 of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547312.5", "url": "https://www.ensembl.org/id/ENST00000547312.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448610.1", "url": "https://www.ensembl.org/id/ENSP00000448610.1" } ] } }, { "isoform_ac": "O00429-3", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKLIQDSRRETKNVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 710, "header": "sp|O00429-3|DNM1L_HUMAN Isoform 3 of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452533.6", "url": "https://www.ensembl.org/id/ENST00000452533.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000415131.2", "url": "https://www.ensembl.org/id/ENSP00000415131.2" } ] } }, { "isoform_ac": "O00429-4", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 699, "header": "sp|O00429-4|DNM1L_HUMAN Isoform 4 of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000266481.10", "url": "https://www.ensembl.org/id/ENST00000266481.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000266481.6", "url": "https://www.ensembl.org/id/ENSP00000266481.6" } ] } }, { "isoform_ac": "O00429-5", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPAVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 710, "header": "sp|O00429-5|DNM1L_HUMAN Isoform 5 of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": {} }, { "isoform_ac": "O00429-6", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENDPATWKNSRHLSKGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKLIQDSRRETKNVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 749, "header": "sp|O00429-6|DNM1L_HUMAN Isoform 6 of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553257.6", "url": "https://www.ensembl.org/id/ENST00000553257.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000449089.1", "url": "https://www.ensembl.org/id/ENSP00000449089.1" } ] } }, { "isoform_ac": "O00429-7", "url": "", "sequence": { "sequence": "MFHKKINGKQQEKKMTLLHGKTQDTFLKGWKQKNGVNFFTPKIRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKLIQDSRRETKNVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 533, "header": "sp|O00429-7|DNM1L_HUMAN Isoform 7 of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": {} }, { "isoform_ac": "O00429-8", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENDPATWKNSRHLSKGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 738, "header": "sp|O00429-8|DNM1L_HUMAN Isoform 8 of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381000.8", "url": "https://www.ensembl.org/id/ENST00000381000.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000370388.4", "url": "https://www.ensembl.org/id/ENSP00000370388.4" } ] } }, { "isoform_ac": "O00429-9", "url": "", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGIVTRRPLILQLVHVSQEDKRKTTGEENDPATWKNSRHLSKGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKIFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 712, "header": "sp|O00429-9|DNM1L_HUMAN Isoform 9 of Dynamin-1-like protein OS=Homo sapiens OX=9606 GN=DNM1L PE=1 SV=2 CANONICAL=O00429-1" }, "locus": { "chromosome": "12", "start_pos": 32743407, "end_pos": 32679364, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358214.9", "url": "https://www.ensembl.org/id/ENST00000358214.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000350948.5", "url": "https://www.ensembl.org/id/ENSP00000350948.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 200, "start_aa": "Ser", "end_pos": 200, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser200", "evidence": [ { "id": "O00429", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00429" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "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": "34764359", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34764359" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "O00429", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00429" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 55, "start_aa": "Thr", "end_pos": 55, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr55", "evidence": [ { "id": "O00429", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00429" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "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": "34764359", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34764359" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "O00429", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00429" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine O-GlcNAcylation", "start_pos": 585, "start_aa": "Thr", "end_pos": 585, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr585", "evidence": [ { "id": "O00429", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00429#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine O-GlcNAcylation", "start_pos": 586, "start_aa": "Thr", "end_pos": 586, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr586", "evidence": [ { "id": "O00429", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00429#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 193, "end_pos": 193, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr193" }, { "start_pos": 194, "end_pos": 194, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser194" }, { "start_pos": 266, "end_pos": 266, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "PubMed", "id": "29022905", "url": "https://glygen.org/publication/PubMed/29022905" } ], "site_lbl": "Tyr266" }, { "start_pos": 368, "end_pos": 368, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "PubMed", "id": "29022905", "url": "https://glygen.org/publication/PubMed/29022905" } ], "site_lbl": "Tyr368" }, { "start_pos": 449, "end_pos": 449, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "PubMed", "id": "29022905", "url": "https://glygen.org/publication/PubMed/29022905" } ], "site_lbl": "Tyr449" }, { "start_pos": 529, "end_pos": 529, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser529" }, { "start_pos": 548, "end_pos": 548, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "phospho.ELM", "id": "O00429", "url": "http://phospho.elm.eu.org/byAccession/O00429.html" } ], "site_lbl": "Ser548" }, { "start_pos": 595, "end_pos": 595, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "PubMed", "id": "23813973", "url": "https://glygen.org/publication/PubMed/23813973" } ], "site_lbl": "Thr595" }, { "start_pos": 607, "end_pos": 607, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "phospho.ELM", "id": "O00429", "url": "http://phospho.elm.eu.org/byAccession/O00429.html" } ], "site_lbl": "Ser607" }, { "start_pos": 616, "end_pos": 616, "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "PubMed", "id": "25658205", "url": "https://glygen.org/publication/PubMed/25658205" } ], "site_lbl": "Ser616" }, { "start_pos": 616, "end_pos": 616, "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "PubMed", "id": "17301055", "url": "https://glygen.org/publication/PubMed/17301055" } ], "site_lbl": "Ser616" }, { "start_pos": 616, "end_pos": 616, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CDK1 and PINK1", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "17301055", "url": "https://glygen.org/publication/PubMed/17301055" }, { "database": "PubMed", "id": "21822277", "url": "https://glygen.org/publication/PubMed/21822277" }, { "database": "phospho.ELM", "id": "O00429", "url": "http://phospho.elm.eu.org/byAccession/O00429.html" }, { "database": "PubMed", "id": "20463395", "url": "https://glygen.org/publication/PubMed/20463395" }, { "database": "PubMed", "id": "22100972", "url": "https://glygen.org/publication/PubMed/22100972" }, { "database": "PubMed", "id": "22511751", "url": "https://glygen.org/publication/PubMed/22511751" }, { "database": "PubMed", "id": "23283981", "url": "https://glygen.org/publication/PubMed/23283981" }, { "database": "PubMed", "id": "23334860", "url": "https://glygen.org/publication/PubMed/23334860" }, { "database": "PubMed", "id": "23792636", "url": "https://glygen.org/publication/PubMed/23792636" }, { "database": "PubMed", "id": "24177748", "url": "https://glygen.org/publication/PubMed/24177748" }, { "database": "PubMed", "id": "24733894", "url": "https://glygen.org/publication/PubMed/24733894" }, { "database": "PubMed", "id": "24947026", "url": "https://glygen.org/publication/PubMed/24947026" }, { "database": "PubMed", "id": "25595902", "url": "https://glygen.org/publication/PubMed/25595902" }, { "database": 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Cell Biol.", "date": "2007", "authors": "Karbowski M, Neutzner A, Youle RJ", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "reference": [ { "type": "PubMed", "id": "17606867", "url": "https://glygen.org/publication/PubMed/17606867" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "O00429-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Phosphoproteome of resting human platelets.", "journal": "Journal of proteome research", "date": "2008", "authors": 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"http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" } ], "reference": [ { "type": "PubMed", "id": "33802063", "url": "https://glygen.org/publication/PubMed/33802063" } ] }, { "title": "The Phosphorylation Status of Drp1-Ser637 by PKA in Mitochondrial Fission Modulates Mitophagy via PINK1/Parkin to Exert Multipolar Spindles Assembly during Mitosis.", "journal": "Biomolecules", "date": "2021-03-13", "authors": "Ko Huey-Jiun, Tsai Cheng-Yu, Chiou Shean-Jaw, Lai Yun-Ling, Wang Chi-Huei, Cheng Jiin-Tsuey, Chuang Tsung-Hsien, Huang Chi-Ying F, Kwan Aij-Lie, Loh Joon-Khim, Hong Yi-Ren", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" } ], "reference": [ { "type": "PubMed", "id": "33805672", "url": "https://glygen.org/publication/PubMed/33805672" } ] }, { "title": "High Mobility Group Box 1 Promotes Lung Cancer Cell Migration and Motility via Regulation of Dynamin-Related Protein 1.", "journal": "International journal of molecular sciences", "date": "2021-03-31", "authors": "Liu Wei-Lun, Li Chia-Yang, Cheng Wei-Chung, Chang Chia-Yuan, Chen Yung-Hsiang, Lu Chi-Yu, Wang Shu-Chi, Liu Yu-Ru, Cheng Meng-Hsuan, Chong Inn-Wen, Liu Po-Len", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" } ], "reference": [ { "type": "PubMed", "id": "33807275", "url": "https://glygen.org/publication/PubMed/33807275" } ] }, { "title": "DDAH2 suppresses RLR-MAVS-mediated innate antiviral immunity by stimulating nitric oxide-activated, Drp1-induced mitochondrial fission.", "journal": "Science signaling", "date": "2021", "authors": "Huang S, Li Z, Wu Z, Liu C, Yu M, Wen M, Zhang L, Wang X", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "reference": [ { "type": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "title": "Changes in Drp1 Function and Mitochondrial Morphology Are Associated with the alpha-Synuclein Pathology in a Transgenic Mouse Model of Parkinson's Disease.", "journal": "Cells", "date": "2021", "authors": "Portz P, Lee MK", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" } ], "reference": [ { "type": "PubMed", "id": "33924585", "url": "https://glygen.org/publication/PubMed/33924585" } ] }, { "title": "The role of PKA/PP2B-mediated Drp1 phosphorylation and the subsequent EGFR inhibition in Cr(VI)-induced premature senescence.", "journal": "Ecotoxicology and environmental safety", "date": "2021-05-07", "authors": "Li Siwen, Ma Yu, Liang Yuehui, Liang Ningjuan, Ye Shuzi, Xiao Fang", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" } ], "reference": [ { "type": "PubMed", "id": "33971394", "url": "https://glygen.org/publication/PubMed/33971394" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00429", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00429" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00429", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00429" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Blocked O-GlcNAc cycling alters mitochondrial morphology, function, and mass.", "journal": "Scientific reports", "date": "2021", "authors": "Akinbiyi EO, Abramowitz LK, Bauer BL, Stoll MSK, Hoppel CL, Hsiao CP, Hanover JA, Mears JA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00429", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00429" } ], "reference": [ { "type": "PubMed", "id": "34764359", "url": "https://glygen.org/publication/PubMed/34764359" } ] }, { "title": "Prognostic significance of dynamin-related protein 1 expression in advanced lung adenocarcinoma.", "journal": "Pathology, research and practice", "date": "2022", "authors": "Huang YL, Chen YJ, Juan YH, Wu SG, Chung KP", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" } ], "reference": [ { "type": "PubMed", "id": "35523103", "url": "https://glygen.org/publication/PubMed/35523103" } ] }, { "title": "SIRT6 promotes mitochondrial fission and subsequent cellular invasion in ovarian cancer.", "journal": "FEBS open bio", "date": "2022", "authors": "Bandopadhyay S, Prasad P, Ray U, Das Ghosh D, Roy SS", "evidence": [ { "database": "iPTMnet", "id": "O00429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00429" } ], "reference": [ { "type": "PubMed", "id": "35686673", "url": "https://glygen.org/publication/PubMed/35686673" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00429", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00429" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Targeting dynamin-related protein-1 as a potential therapeutic approach for mitochondrial dysfunction in Alzheimer's disease.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2023-10", "authors": "Bhatti Jasvinder Singh, Kaur Satinder, Mishra Jayapriya, Dibbanti Harikrishnareddy, Singh Arti, Reddy Arubala P, Bhatti Gurjit Kaur, Reddy P Hemachandra", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" } ], "reference": [ { "type": "PubMed", "id": "37392948", "url": "https://glygen.org/publication/PubMed/37392948" } ] }, { "title": "The Role of Mitochondrial Dynamics and Mitotic Fission in Regulating the Cell Cycle in Cancer and Pulmonary Arterial Hypertension: Implications for Dynamin-Related Protein 1 and Mitofusin2 in Hyperproliferative Diseases.", "journal": "Cells", "date": "2023-07-20", "authors": "Colpman Pierce, Dasgupta Asish, Archer Stephen L", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" } ], "reference": [ { "type": "PubMed", "id": "37508561", "url": "https://glygen.org/publication/PubMed/37508561" } ] }, { "title": "A conserved, noncanonical insert in FIS1 mediates TBC1D15 and DRP1 recruitment for mitochondrial fission.", "journal": "The Journal of biological chemistry", "date": "2023-11", "authors": "Ihenacho Ugochukwu K, Toro Rafael, Mansour Rana H, Hill R Blake", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" } ], "reference": [ { "type": "PubMed", "id": "37777154", "url": "https://glygen.org/publication/PubMed/37777154" } ] }, { "title": "Matrix stiffness induces Drp1-mediated mitochondrial fission through Piezo1 mechanotransduction in human intervertebral disc degeneration.", "journal": "Journal of translational medicine", "date": "2023-10-10", "authors": "Ke Wencan, Wang Bingjin, Liao Zhiwei, Song Yu, Li Gaocai, Ma Liang, Wang Kun, Li Shuai, Hua Wenbin, Yang Cao", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" } ], "reference": [ { "type": "PubMed", "id": "37817199", "url": "https://glygen.org/publication/PubMed/37817199" } ] }, { "title": "Effects of phosphorylation on Drp1 activation by its receptors, actin, and cardiolipin.", "journal": "Molecular biology of the cell", "date": "2024-02-01", "authors": "Liu Ao, Hatch Anna L, Higgs Henry N", "evidence": [ { "database": "RefSeq", "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392" } ], "reference": [ { "type": "PubMed", "id": "38019609", "url": "https://glygen.org/publication/PubMed/38019609" } ] }, { "title": "Identification and subcellular localization of a novel mammalian dynamin-related protein homologous to yeast Vps1p and Dnm1p.", "journal": "J. Biochem.", "date": "1997", "authors": "Shin H W, Shinotsuka C, Torii S, Murakami K, Nakayama K", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "reference": [ { "type": "PubMed", "id": "9348079", "url": "https://glygen.org/publication/PubMed/9348079" } ] }, { "title": "Dymple, a novel dynamin-like high molecular weight GTPase lacking a proline-rich carboxyl-terminal domain in mammalian cells.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Kamimoto T, Nagai Y, Onogi H, Muro Y, Wakabayashi T, Hagiwara M", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "reference": [ { "type": "PubMed", "id": "9422767", "url": "https://glygen.org/publication/PubMed/9422767" } ] }, { "title": "A novel dynamin-like protein associates with cytoplasmic vesicles and tubules of the endoplasmic reticulum in mammalian cells.", "journal": "J. Cell Biol.", "date": "1998", "authors": "Yoon Y, Pitts K R, Dahan S, McNiven M A", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "reference": [ { "type": "PubMed", "id": "9472031", "url": "https://glygen.org/publication/PubMed/9472031" } ] }, { "title": "Identification and functional characterization of a novel human protein highly related to the yeast dynamin-like GTPase Vps1p.", "journal": "Journal of cell science", "date": "1998", "authors": "Imoto M, Tachibana I, Urrutia R", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "reference": [ { "type": "PubMed", "id": "9570752", "url": "https://glygen.org/publication/PubMed/9570752" } ] }, { "title": "Human dynamin-like protein interacts with the glycogen synthase kinase 3beta.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1998", "authors": "Hong Y R, Chen C H, Cheng D S, Howng S L, Chow C C", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "reference": [ { "type": "PubMed", "id": "9731200", "url": "https://glygen.org/publication/PubMed/9731200" } ] }, { "title": "A human dynamin-related protein controls the distribution of mitochondria.", "journal": "The Journal of cell biology", "date": "1998-10-19", "authors": "Smirnova E, Shurland D L, Ryazantsev S N, van der Bliek A M", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "reference": [ { "type": "PubMed", "id": "9786947", "url": "https://glygen.org/publication/PubMed/9786947" } ] }, { "title": "Intermolecular and interdomain interactions of a dynamin-related GTP-binding protein, Dnm1p/Vps1p-like protein.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Shin H W, Takatsu H, Mukai H, Munekata E, Murakami K, Nakayama K", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "reference": [ { "type": "PubMed", "id": "9915810", "url": "https://glygen.org/publication/PubMed/9915810" } ] } ], "pathway": [ { "id": "hsa:10059", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10059", "resource": "KEGG Pathway" }, { "id": "R-HSA-75153", "name": "Apoptotic execution phase", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75153", "resource": "Reactome", "description": "Apoptotic execution phase" } ], "orthologs": [ { "uniprot_canonical_ac": "O35303-1", "protein_name": "Dynamin-1-like protein", "gene_name": "Dnm1l", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGVVTRRPLILQLVHVSPEDKRKTTGEENDPATWKNSRHLSKGVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKVFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKLIQDNRRETKNVASAGGGIGDGGRIGDGGQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 755 }, "evidence": [ { "id": "45924757", "url": "http://www.informatics.jax.org/homology/45924757", "database": "MGI" }, { "id": "O00429", "url": "https://omabrowser.org/oma/group/O00429/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P54861-1", "protein_name": "Dynamin-related protein DNM1", "gene_name": "DNM1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MASLEDLIPTVNKLQDVMYDSGIDTLDLPILAVVGSQSSGKSSILETLVGRDFLPRGTGIVTRRPLVLQLNNISPNSPLIEEDDNSVNPHDEVTKISGFEAGTKPLEYRGKERNHADEWGEFLHIPGKRFYDFDDIKREIENETARIAGKDKGISKIPINLKVFSPHVLNLTLVDLPGITKVPIGEQPPDIEKQIKNLILDYIATPNCLILAVSPANVDLVNSESLKLAREVDPQGKRTIGVITKLDLMDSGTNALDILSGKMYPLKLGFVGVVNRSQQDIQLNKTVEESLDKEEDYFRKHPVYRTISTKCGTRYLAKLLNQTLLSHIRDKLPDIKTKLNTLISQTEQELARYGGVGATTNESRASLVLQLMNKFSTNFISSIDGTSSDINTKELCGGARIYYIYNNVFGNSLKSIDPTSNLSVLDVRTAIRNSTGPRPTLFVPELAFDLLVKPQIKLLLEPSQRCVELVYEELMKICHKCGSAELARYPKLKSMLIEVISELLRERLQPTRSYVESLIDIHRAYINTNHPNFLSATEAMDDIMKTRRKRNQELLKSKLSQQENGQTNGINGTSSISSNIDQDSAKNSDYDDDGIDAESKQTKDKFLNYFFGKDKKGQPVFDASDKKRSIAGDGNIEDFRNLQISDFSLGDIDDLENAEPPLTEREELECELIKRLIVSYFDIIREMIEDQVPKAVMCLLVNYCKDSVQNRLVTKLYKETLFEELLVEDQTLAQDRELCVKSLGVYKKAATLISNIL", "length": 757 }, "evidence": [ { "id": "O00429", "url": "https://omabrowser.org/oma/group/O00429/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q8K1M6-1", "protein_name": "Dynamin-1-like protein", "gene_name": "Dnm1l", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTGVVTRRPLILQLVHVSPEDKRKTTGEENGKFQSWRVEAEEWGKFLHTKNKLYTDFDEIRQEIENETERISGNNKGVSPEPIHLKVFSPNVVNLTLVDLPGMTKVPVGDQPKDIELQIRELILRFISNPNSIILAVTAANTDMATSEALKISREVDPDGRRTLAVITKLDLMDAGTDAMDVLMGRVIPVKLGIIGVVNRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAGSRDKSSKVPSALAPASQEPPPAASAEADGKLIQDNRRETKNVPSAGGGIGDGGQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW", "length": 742 }, "evidence": [ { "id": "45924757", "url": "http://www.informatics.jax.org/homology/45924757", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VQE0-1", "protein_name": "Dynamin related protein 1, isoform B", "gene_name": "Drp1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MEALIPVINKLQDVFNTVGSDSIQLPQIVVLGSQSSGKSSVIESVVGRSFLPRGTGIVTRRPLVLQLIYSPLDDRENRSAENGTSNAEEWGRFLHTKKCFTDFDEIRKEIENETERAAGSNKGICPEPINLKIFSTHVVNLTLVDLPGITKVPVGDQPEDIEAQIKELVLKYIENPNSIILAVTAANTDMATSEALKLAKDVDPDGRRTLAVVTKLDLMDAGTDAIDILCGRVIPVKLGIIGVMNRSQKDIMDQKHIDDQMKDEAAFLQRKYPTLATRNGTPYLAKTLNRLLMHHIRDCLPDLKTRVNIMATQFQSLLNSYGEDVSDKSQTLLQIITKFSSAYCCTIEGTARNIETTELCGGARMGYIFHETFGRTLDSIHPLAGLSKMDILTAIRNATGPRPALFVPEVSFELLVKRQIRRLEEPSLRCVELIHEEMQRIVQHCGNEVQQEMLRFPKLHEKIVDVVTQLLRRRLPHTNVMVENIVAIELAYINTKHPDFHKDAALVPSLLKTDSDPYSQINLGQRRANTPRNHMSPQISSHSAGSQQPQQQQPPQPNSSQQQYSQVHEQNHVAENSTPSMASTWLSNILPPAPTRPDSIENSTNNTPVHNNIVSPVKPVNLLPDVPANHNPRRLTDKEQKDCDVIEHLIKSYFYIVRKSIQDSVPKAIMHFLVNYVKDNLQSELVTHLYKSDKAETLLNESDHIAVRRKEAADMLKALTRANHIISEIRETHMW", "length": 735 }, "evidence": [ { "id": "O00429", "url": "https://omabrowser.org/oma/group/O00429/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 11, "go_terms": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "GTP-dependent protein binding", "id": "GO:0030742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030742", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 16, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 30, "go_terms": [ { "name": "protein localization to mitochondrion", "id": "GO:0070585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070585", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "mitochondrial membrane fission", "id": "GO:0090149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090149", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "regulation of peroxisome organization", "id": "GO:1900063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900063", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "peroxisome fission", "id": "GO:0016559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016559", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "regulation of autophagy of mitochondrion", "id": "GO:1903146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903146", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "membrane fusion", "id": "GO:0061025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061025", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "mitochondrial fragmentation involved in apoptotic process", "id": "GO:0043653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043653", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "mitochondrion morphogenesis", "id": "GO:0070584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070584", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "regulation of ATP metabolic process", "id": "GO:1903578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903578", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "necroptotic process", "id": "GO:0070266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070266", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "localization", "id": "GO:0051179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051179", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" }, { "name": "mitocytosis", "id": "GO:0160040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160040", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 113, "end_pos": 115, "annotation": "n_glycosylation_sequon" }, { "start_pos": 141, "end_pos": 143, "annotation": "n_glycosylation_sequon" }, { "start_pos": 246, "end_pos": 248, "annotation": "n_glycosylation_sequon" }, { "start_pos": 280, "end_pos": 282, "annotation": "n_glycosylation_sequon" }, { "start_pos": 398, "end_pos": 400, "annotation": "n_glycosylation_sequon" }, { "start_pos": 448, "end_pos": 450, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylation/dephosphorylation events on two sites near the GED domain regulate mitochondrial fission (PubMed:17301055, PubMed:17553808, PubMed:18695047, PubMed:18838687, PubMed:23283981, PubMed:29478834, PubMed:33850055). Phosphorylation on Ser-637 by CAMK1 and PKA inhibits the GTPase activity, leading to a defect in mitochondrial fission promoting mitochondrial elongation (PubMed:17553808, PubMed:18695047, PubMed:23283981, PubMed:29478834). Dephosphorylated on this site by PPP3CA which promotes mitochondrial fission (PubMed:18838687). Phosphorylation on Ser-616 by CDK1 and PINK1 activates the GTPase activity and promotes mitochondrial fission (PubMed:18838687, PubMed:32484300, PubMed:21822277). Phosphorylated in a circadian manner at Ser-637 (PubMed:29478834).", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "18838687", "url": "https://glygen.org/publication/PubMed/18838687" }, { "database": "PubMed", "id": "18695047", "url": "https://glygen.org/publication/PubMed/18695047" }, { "database": "PubMed", "id": "17301055", "url": "https://glygen.org/publication/PubMed/17301055" }, { "database": "PubMed", "id": "29478834", "url": "https://glygen.org/publication/PubMed/29478834" }, { "database": "PubMed", "id": "23283981", "url": "https://glygen.org/publication/PubMed/23283981" }, { "database": "PubMed", "id": "21822277", "url": "https://glygen.org/publication/PubMed/21822277" }, { "database": "PubMed", "id": "32484300", "url": "https://glygen.org/publication/PubMed/32484300" }, { "database": "PubMed", "id": "17553808", "url": "https://glygen.org/publication/PubMed/17553808" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "annotation": "S-nitrosylation increases DNM1L dimerization, mitochondrial fission and causes neuronal damage.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19342591", "url": "https://glygen.org/publication/PubMed/19342591" } ] }, { "annotation": "Sumoylated on various lysine residues within the B domain, probably by MUL1. Sumoylation positively regulates mitochondrial fission. Desumoylated by SENP5 during G2/M transition of mitosis. Appears to be linked to its catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "19638400", "url": "https://glygen.org/publication/PubMed/19638400" }, { "database": "PubMed", "id": "19407830", "url": "https://glygen.org/publication/PubMed/19407830" }, { "database": "PubMed", "id": "19411255", "url": "https://glygen.org/publication/PubMed/19411255" } ] }, { "annotation": "Ubiquitination by MARCHF5 affects mitochondrial morphology.", "evidence": [ { "database": "UniProtKB", "id": "O00429", "url": "https://www.uniprot.org/uniprot/O00429" }, { "database": "PubMed", "id": "16874301", "url": "https://glygen.org/publication/PubMed/16874301" }, { "database": "PubMed", "id": "16936636", "url": "https://glygen.org/publication/PubMed/16936636" } ] } ], "interactions": [], "reactions": [ { "id": "19669", "name": "", "equation": "GTP + H2O = GDP + H(+) + phosphate", "summary": "", 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"Q9BQE3-1", "P68363-1", "Q5RIA9-1", "Q9BRT8-1", "A6NHL2-1", "Q5JTY5-1", "P84077-1", "Q6PEY2-1", "P13639-1", "P15170-1", "P0DPH7-1", "P0DPH8-1", "Q969S9-1", "Q15382-1", "P49961-1", "Q8IYD1-1", "P68104-1", "P61221-1", "Q9Y450-1", "P61021-1", "Q62293-1", "Q61107-1", "P60766-2", "Q8BZ98-1", "Q8CFB4-1", "P32233-1", "Q9QXB9-1", "Q01514-1", "Q8K1M6-1", "P39053-1", "P39054-1", "Q8C262-1", "Q5S006-1", "Q8C3X4-1", "Q9Z0E6-1", "Q9QZ85-1", "Q05D44-1", "P58281-1", "Q8C7H1-1", "Q80U63-1", "Q811U4-1", "Q99P58-1", "Q9QUI0-1", "Q9ERI2-1", "P63001-1", "Q3T9E4-1", "Q7TQD2-1", "Q9CQD1-1", "Q9CQW2-1", "P56371-1", "P62821-1", "P62492-1", "Q91ZR1-1", "P35278-1", "P46638-1", "P51150-1", "Q3TCT4-1", "Q9D1G1-1", "P61226-1", "P61027-1", "P62071-1", "Q99JI6-1", "Q8R367-1", "Q922H7-1", "Q8BU31-1", "Q80ZJ1-1", "Q80X95-1", "O08989-1", "P70426-1", "Q8K5A4-1", "P10833-1", "P70425-1", "Q61411-1", "Q5SSG5-1", "Q7TT45-1", "Q6NTA4-1", "Q99K70-1", "Q9JIW9-1", "Q08AT1-1", "P60764-1", "P62835-1", "P63321-1", "Q6IMB1-1", 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"P15112-1", "P18613-1", "P32252-1", "P32253-1", "P32254-1", "P32255-1", "P36409-1", "P36411-1", "Q54MH8-1", "Q55AX0-1", "Q55BW0-1", "Q55F94-1", "P08645-1", "P08646-1", "P40793-1", "Q24208-1", "P04388-1", "P27619-1", "Q7YU24-1", "P48555-1", "Q9VRH6-1", "A1Z9N0-1", "O18412-1", "P06604-1", "P06606-1", "P61209-1", "P06603-1", "P06605-1", "Q9W074-1", "O18333-1", "Q9V3I2-1", "Q9VRY2-1", "O76742-1", "P13060-1", "Q9VM20-1" ], "evidence": [ { "id": "19669", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19669" } ] }, { "id": "R-HSA-351948", "name": "Mitochondrial recruitment of Drp1", "equation": "", "summary": "Adenoviral expression of the BAP31 cleavage product, p20 causes early release of Ca2+ from the ER, concomitant uptake of Ca2+ into mitochondria, and recruitment of Drp1 to the mitochondria (Breckenridge et al., 2003). Drp1 mediates scission of the outer mitochondrial membrane, resulting in dramatic fragmentation and fission of the mitochondrial network.", "cellular_location": "cytosol, mitochondrial outer membrane", "input_participant_list": [ "R-HSA-351943" ], "output_participant_list": [ "R-HSA-351942" ], "enzyme_list": [ "O00429-1" ], "evidence": [ { "id": "R-HSA-351948", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-351948" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-351942", "participant_name": "DNM1L [mitochondrial outer membrane]", "crossref": [ { "id": "O00429", "database": "Pharos - Targets", "url": "" }, { "id": "4H1U", "database": "PDB", "url": "" }, { "id": "ENST00000452533", "database": "Ensembl", "url": "" }, { "id": "NP_001265394.1", "database": "RefSeq", "url": "" }, { "id": "NP_005681.2", "database": "RefSeq", "url": "" }, { "id": "5WP9", "database": "PDB", "url": "" }, { "id": "NP_001317309.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000450399", "database": "Ensembl", "url": "" }, { "id": "ENSP00000350948", "database": "Ensembl", "url": "" }, { "id": "ENSP00000449089", "database": "Ensembl", "url": "" }, { "id": "ENST00000381000", "database": "Ensembl", "url": "" }, { "id": "ENSP00000266481", "database": "Ensembl", "url": "" }, { "id": "ENSP00000370388", "database": "Ensembl", "url": "" }, { "id": "NP_036192.2", "database": "RefSeq", "url": "" }, { "id": "O00429", "database": "GeneCards", "url": "" }, { "id": "ENST00000547312", "database": "Ensembl", "url": "" }, { "id": "4H1V", "database": "PDB", "url": "" }, { "id": "NP_001265393.1", "database": "RefSeq", "url": "" }, { "id": "O00429", "database": "UniProt", "url": "" }, { "id": "22019", "database": "Orphanet", "url": "" }, { "id": "ENST00000549701", "database": "Ensembl", "url": "" }, { "id": "NP_001265395.1", "database": "RefSeq", "url": "" }, { "id": "3W6N", "database": "PDB", "url": "" }, { "id": "O00429", "database": "PRO", "url": "" }, { "id": "NP_001265392.1", "database": "RefSeq", "url": "" }, { "id": "NP_036193.2", "database": "RefSeq", "url": "" }, { "id": "HMDBP08349", "database": "HMDB Protein", "url": "" }, { "id": "ENST00000266481", "database": "Ensembl", "url": "" }, { "id": "ENST00000553257", "database": "Ensembl", "url": "" }, { "id": "ENSG00000087470", "database": "OpenTargets", "url": "" }, { "id": "3W6O", "database": "PDB", "url": "" }, { "id": "3W6P", "database": "PDB", "url": "" }, { "id": "ENSP00000448610", "database": "Ensembl", "url": "" }, { "id": "ENSP00000415131", "database": "Ensembl", "url": "" }, { "id": "4BEJ", "database": "PDB", "url": "" }, { "id": "ENSG00000087470-DNM1L", "database": "HPA", "url": "" }, { "id": "ENSG00000087470", "database": "Ensembl", "url": "" }, { "id": "ENST00000358214", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-351943", "participant_name": "DNM1L [cytosol]", "crossref": [ { "id": "O00429", "database": "UniProt", "url": "" }, { "id": "ENSP00000415131", "database": "Ensembl", "url": "" }, { "id": "NP_005681.2", "database": "RefSeq", "url": "" }, { "id": "HMDBP08349", "database": "HMDB Protein", "url": "" }, { "id": "O00429", "database": "GeneCards", "url": "" }, { "id": "3W6P", "database": "PDB", "url": "" }, { "id": "NP_001317309.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000549701", "database": "Ensembl", "url": "" }, { "id": "ENSP00000370388", "database": "Ensembl", "url": "" }, { "id": "ENSG00000087470-DNM1L", "database": "HPA", "url": "" }, { "id": "O00429", "database": "Pharos - Targets", "url": "" }, { "id": "NP_001265392.1", "database": "RefSeq", "url": "" }, { "id": "NP_001265393.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000087470", "database": "OpenTargets", "url": "" }, { "id": "ENSP00000350948", "database": "Ensembl", "url": "" }, { "id": "3W6N", "database": "PDB", "url": "" }, { "id": "ENST00000381000", "database": "Ensembl", "url": "" }, { "id": "ENST00000358214", "database": "Ensembl", "url": "" }, { "id": "NP_001265394.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000266481", "database": "Ensembl", "url": "" }, { "id": "ENST00000547312", "database": "Ensembl", "url": "" }, { "id": "ENSP00000448610", "database": "Ensembl", "url": "" }, { "id": "5WP9", "database": "PDB", "url": "" }, { "id": "22019", "database": "Orphanet", "url": "" }, { "id": "NP_036192.2", "database": "RefSeq", "url": "" }, { "id": "4BEJ", "database": "PDB", "url": "" }, { "id": "4H1U", "database": "PDB", "url": "" }, { "id": "NP_036193.2", "database": "RefSeq", "url": "" }, { "id": "4H1V", "database": "PDB", "url": "" }, { "id": "3W6O", "database": "PDB", "url": "" }, { "id": "ENSP00000450399", "database": "Ensembl", "url": "" }, { "id": "NP_001265395.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000266481", "database": "Ensembl", "url": "" }, { "id": "ENSG00000087470", "database": "Ensembl", "url": "" }, { "id": "ENST00000452533", "database": "Ensembl", "url": "" }, { "id": "O00429", "database": "PRO", "url": "" }, { "id": "ENSP00000449089", "database": "Ensembl", "url": "" }, { "id": "ENST00000553257", "database": "Ensembl", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A0G2JDV3", "gene_name": "Gbp6", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A0A0G2JDV3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2JDV3" } ] } ] }, { "uniprot_ac": "A0A140LIF8", "gene_name": "Irgm2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A0A140LIF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A140LIF8" } ] } ] }, { "uniprot_ac": "A0A8I5ZU96", "gene_name": "ENSRNOG00000063798", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "A0A8I5ZU96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZU96" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "A0A8I5ZU96", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZU96" } ] } ] }, { "uniprot_ac": "A0A8I6AHV4", "gene_name": "LOC367858", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "A0A8I6AHV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6AHV4" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "A0A8I6AHV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6AHV4" } ] } ] }, { "uniprot_ac": "A1A4Y4", "gene_name": "IRGM", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A1A4Y4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1A4Y4" } ] } ] }, { "uniprot_ac": "A1Z9N0", "gene_name": "Opa1", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "A1Z9N0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1Z9N0" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "A1Z9N0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1Z9N0" } ] } ] }, { "uniprot_ac": "A4UUI3", "gene_name": "Gbp4", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A4UUI3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A4UUI3" } ] } ] }, { "uniprot_ac": "A6NHL2", "gene_name": "TUBAL3", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A6NHL2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NHL2" } ] } ] }, { "uniprot_ac": "A6NIZ1", "gene_name": "RAP1BL", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "A6NIZ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NIZ1" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "A6NIZ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NIZ1" } ] } ] }, { "uniprot_ac": "B0G189", "gene_name": "guf1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "B0G189", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B0G189" } ] } ] }, { "uniprot_ac": "B2GUV7", "gene_name": "Eif5b", "activity": [ { "ec_number": "3.6.5.3", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "B2GUV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2GUV7" } ] }, { "ec_number": "3.6.5.3", "activity": "", "evidence": [ { "id": "B2GUV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2GUV7" } ] } ] }, { "uniprot_ac": "B2RVE2", "gene_name": "Rergl", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "B2RVE2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RVE2" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "B2RVE2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RVE2" } ] } ] }, { "uniprot_ac": "C9WPN6", "gene_name": "Eif2s3y", "activity": [ { "ec_number": "3.6.5.3", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "C9WPN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9WPN6" } ] }, { "ec_number": "3.6.5.3", "activity": "", "evidence": [ { "id": "C9WPN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C9WPN6" } ] } ] }, { "uniprot_ac": "D3Z8L7", "gene_name": "Rras", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "D3Z8L7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3Z8L7" } ] } ] }, { "uniprot_ac": "D3ZLK2", "gene_name": "Rasl12", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "D3ZLK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZLK2" } ] }, { "ec_number": 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"activity": "", "evidence": [ { "id": "P61226", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61226" } ] } ] }, { "uniprot_ac": "P61227", "gene_name": "Rap2b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61227", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61227" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61227", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61227" } ] } ] }, { "uniprot_ac": "P61294", "gene_name": "Rab6b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61294", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61294" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61294", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61294" } ] } ] }, { "uniprot_ac": "P61586", "gene_name": "RHOA", 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