{ "uniprot_canonical_ac": "Q12840-1", "uniprot_ac": "Q12840", "uniprot_id": "KIF5A_HUMAN", "mass": { "chemical_mass": 117378.0, "monoisotopic_mass": 117378.0 }, "refseq": { "ac": "NP_004975", "name": "kinesin heavy chain isoform 5A isoform 1", "summary": "This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975" }, "gene_names": [ { "name": "KIF5A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q12840", "id": "Q12840" }, { "name": "ALS25; D12S1889; MY050; NEIMY; NKHC; SPG10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975", "id": "NP_004975" }, { "name": "KIF5A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975", "id": "NP_004975" }, { "name": "NKHC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q12840", "id": "Q12840" } ], "protein_names": [ { "name": "Kinesin heavy chain isoform 5A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q12840" }, { "name": "Kinesin heavy chain neuron-specific 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q12840" }, { "name": "NKHC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q12840" }, { "name": "Neuronal kinesin heavy chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q12840" }, { "name": "kinesin heavy chain isoform 5A isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975", "id": "NP_004975" }, { "name": "kinesin, heavy chain, neuron-specific; KIF5A variant protein; neuronal kinesin heavy chain; kinesin heavy chain neuron-specific 1; neuron-specific kinesin heavy chain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975", "id": "NP_004975" } ], "function": [ { "annotation": "A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975" }, { "database": "PubMed", "id": "37386082", "url": "https://glygen.org/publication/PubMed/37386082" } ] }, { "annotation": "ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.", "evidence": [ { "database": "RefSeq", "id": "NP_004975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975" }, { "database": "PubMed", "id": "35385738", "url": "https://glygen.org/publication/PubMed/35385738" } ] }, { "annotation": "ALS-linked KIF5A DeltaExon27 mutant causes neuronal toxicity through gain-of-function.", "evidence": [ { "database": "RefSeq", "id": "NP_004975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975" }, { "database": "PubMed", "id": "35735139", "url": "https://glygen.org/publication/PubMed/35735139" } ] }, { "annotation": "Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation.", "evidence": [ { "database": "UniProtKB", "id": "Q12840", "url": "https://www.uniprot.org/uniprot/Q12840#function" }, { "database": "UniProtKB", "id": "P33175", "url": "https://www.uniprot.org/uniprot/P33175#function" }, { "database": "UniProtKB", "id": "Q6QLM7", "url": "https://www.uniprot.org/uniprot/Q6QLM7#function" } ] }, { "annotation": "Road-blocker HSP disease mutation disrupts pre-organization for ATP hydrolysis in kinesin through a second sphere control.", "evidence": [ { "database": "RefSeq", "id": "NP_004975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975" }, { "database": "PubMed", "id": "36574689", "url": "https://glygen.org/publication/PubMed/36574689" } ] }, { "annotation": "This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004975" } ] } ], "disease": [ { "disease_id": "DOID:0110763", "recommended_name": { "id": "DOID:0110763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110763", "name": "hereditary spastic paraplegia 10", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13." }, "synonyms": [ { "id": "DOID:0110763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110763", "name": "SPG10", "description": "" }, { "id": "DOID:0110763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110763", "name": "autosomal dominant spastic paraplegia 10", "description": "" }, { "id": "DOID:0110763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110763", "name": "autosomal dominant spastic paraplegia type 10", "description": "" }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "hereditary spastic paraplegia 10", "description": "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case." }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "KIF5A hereditary spastic paraplegia", "description": "" }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "SPG10", "description": "" }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "autosomal dominant spastic paraplegia 10", "description": "" }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "autosomal dominant spastic paraplegia type 10", "description": "" }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "hereditary spastic paraplegia caused by mutation in KIF5A", "description": "" }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "hereditary spastic paraplegia type 10", "description": "" }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "autosomal dominant spastic paraplegia", "description": "" }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "spastic paraplegia 10", "description": "" }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "spastic paraplegia 10 with or without peripheral neuropathy", "description": "" }, { "id": "MONDO:0011408", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011408", "name": "spastic paraplegia 10, autosomal dominant", "description": "" }, { "id": "MIM:604187", "resource": "MIM", "url": "https://www.omim.org/entry/604187", "name": "Spastic paraplegia 10, autosomal dominant", "description": "Spastic paraplegia 10, autosomal dominant" } ], "evidence": [ { "id": "604187", "database": "MIM", "url": "https://www.omim.org/entry/604187" } ] }, { "disease_id": "MONDO:0014979", "recommended_name": { "id": "MONDO:0014979", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014979", "name": "myoclonus, intractable, neonatal", "description": "" }, "synonyms": [ { "id": "MONDO:0014979", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014979", "name": "NEIMY", "description": "" }, { "id": "MONDO:0014979", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014979", "name": "myoclonus, intractable, neonatal", "description": "" }, { "id": "MONDO:0014979", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014979", "name": "myoclonus, intractable, neonatal; NEIMY", "description": "" }, { "id": "MIM:617235", "resource": "MIM", "url": "https://www.omim.org/entry/617235", "name": "Myoclonus, intractable, neonatal", "description": "Myoclonus, intractable, neonatal" } ], "evidence": [ { "id": "617235", "database": "MIM", "url": "https://www.omim.org/entry/617235" } ] } ], "snv": [ { "evidence": [ { "id": "Q12840", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q12840" } ], "glycoeffect": [], "start_pos": 546, "end_pos": 546, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "57572647", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R546", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "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": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 280, "end_pos": 280, "sequence_org": "R", "sequence_mut": "S", "comment": "Strongly reduces microtubule affinity; slightly reduces gliding velocity.", "evidence": [ { "database": "UniProtKB", "id": "Q12840", "url": "https://www.uniprot.org/uniprot/Q12840" }, { "database": "PubMed", "id": "18203753", "url": "https://glygen.org/publication/PubMed/18203753" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "59.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "57.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "71.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "70.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "52.11", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "61.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "33.46", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "61.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "60.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155980", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155980" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q12840", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q12840" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": 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"MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKPYVFDRVFPPNTTQEQVYHACAMQIVKDVLAGYNGTIFAYGQTSSGKTHTMEGKLHDPQLMGIIPRIARDIFNHIYSMDENLEFHIKVSYFEIYLDKIRDLLDVTKTNLSVHEDKNRVPFVKGCTERFVSSPEEILDVIDEGKSNRHVAVTNMNEHSSRSHSIFLINIKQENMETEQKLSGKLYLVDLAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYRDSKMTRILQDSLGGNCRTTMFICCSPSSYNDAETKSTLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEKEKTKAQKETIAKLEAELSRWRNGENVPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEEIRRLYKQLDDKDDEINQQSQLIEKLKQQMLDQEELLVSTRGDNEKVQRELSHLQSENDAAKDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVATMLSLESELQRLQEVSGHQRKRIAEVLNGLMKDLSEFSVIVGNGEIKLPVEISGAIEEEFTVARLYISKIKSEVKSVVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQHEAKIRSLTEYMQSVELKKRHLEESYDSLSDELAKLQAQETVHEVALKDKEPDTQDADEVKKALELQMESHREAHHRQLARLRDEINEKQKTIDELKDLNQKLQLELEKLQADYEKLKSEEHEKSTKLQELTFLYERHEQSKQDLKGLEETVARELQTLHNLRKLFVQDVTTRVKKSAEMEPEDSGGIHSQKQKISFLENNLEQLTKVHKQLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRIKEAVRYKSSGKRGHSAQIAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQATPSSTSDMYFANSCTSSGATSSGGPLASYQKANMDNGNATDINDNRSDLPCGYEAEDQAKLFPLHQETAAS", "length": 1032, "header": "sp|Q12840-1|KIF5A_HUMAN Isoform 1 of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=2 CANONICAL=Q12840-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PEZ8-1", "url": "", "sequence": { "sequence": "MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKPYVFDRVFPPNTTQEQVYHACAMQIVKDVLAGYNGTIFAYGQTSSGKTHTMEVSYFEIYLDKIRDLLDVTKTNLSVHEDKNRVPFVKGCTERFVSSPEEILDVIDEGKSNRHVAVTNMNEHSSRSHSIFLINIKQENMETEQKLSGKLYLVDLAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYRDSKMTRILQDSLGGNCRTTMFICCSPSSYNDAETKSTLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEKEKTKAQKETIAKLEAELSRWRNGENVPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEEIRRLYKQLDDKDDEINQQSQLIEKLKQQMLDQEELLVSTRGDNEKVQRELSHLQSENDAAKDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVATMLSLESELQRLQEVSGHQRKRIAEVLNGLMKDLSEFSVIVGNGEIKLPVEISGAIEEEFTVARLYISKIKSEVKSVVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQHEAKIRSLTEYMQSVELKKRHLEESYDSLSDELAKLQAQETVHEVALKDKEPDTQDADEVKKALELQMESHREAHHRQLARLRDEINEKQKTIDELKDLNQKLQLELEKLQADYEKLKSEEHEKSTKLQELTFLYERHEQSKQDLKGLEETVARELQTLHNLRKLFVQDVTTRVKKSAEMEPEDSGGIHSQKQKISFLENNLEQLTKVHKQLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRIKEAVRYKSSGKRGHSAQIAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQATPSSTSDMYFANSCTSSGATSSGGPLASYQKANMDNGNATDINDNRSDLPCGYEAEDQAKLFPLHQETAAS", "length": 997, "header": "tr|A0A6Q8PEZ8-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57583176, "end_pos": 57550272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676457.1", "url": "https://www.ensembl.org/id/ENST00000676457.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501588.1", "url": "https://www.ensembl.org/id/ENSP00000501588.1" } ] } }, { "isoform_ac": "A0A6Q8PFB8-1", "url": "", "sequence": { "sequence": "XFANSCTSSGATSSGGPLASYQKANMDNDINDN", "length": 33, "header": "tr|A0A6Q8PFB8-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57582629, "end_pos": 57581870, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676055.1", "url": "https://www.ensembl.org/id/ENST00000676055.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501739.1", "url": "https://www.ensembl.org/id/ENSP00000501739.1" } ] } }, { "isoform_ac": "A0A6Q8PFD6-1", "url": "", "sequence": { "sequence": "MGIIPRIARDIFNHIYSMDENLEFHIK", "length": 27, "header": "tr|A0A6Q8PFD6-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57564212, "end_pos": 57564132, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676250.1", "url": "https://www.ensembl.org/id/ENST00000676250.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501749.1", "url": "https://www.ensembl.org/id/ENSP00000501749.1" } ] } }, { "isoform_ac": "A0A6Q8PFG5-1", "url": "", "sequence": { "sequence": "XFANSCTSSGATSSGGPLASYQKANMDNGVTCRVAMRLRTRPSFSLSTKRQQPANLPHPRLHTCTFSF", "length": 68, "header": "tr|A0A6Q8PFG5-1|A0A6Q8PFG5_HUMAN Computationally mapped isoform of Kinesin family member 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=4 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57584223, "end_pos": 57581870, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675697.1", "url": "https://www.ensembl.org/id/ENST00000675697.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501809.1", "url": "https://www.ensembl.org/id/ENSP00000501809.1" } ] } }, { "isoform_ac": "A0A6Q8PFQ3-1", "url": "", "sequence": { "sequence": "PVEISGAIEEEFTVARLYISKIKSEVKSVVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQVSA", "length": 66, "header": "tr|A0A6Q8PFQ3-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57575281, "end_pos": 57575084, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675299.1", "url": "https://www.ensembl.org/id/ENST00000675299.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501888.1", "url": "https://www.ensembl.org/id/ENSP00000501888.1" } ] } }, { "isoform_ac": "A0A6Q8PFR6-1", "url": "", "sequence": { "sequence": "XSDLPCGYEAEDQAKLFPLHQETAAS", "length": 26, "header": "tr|A0A6Q8PFR6-1|A0A6Q8PFR6_HUMAN Computationally mapped isoform of Kinesin family member 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57583178, "end_pos": 57583101, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675433.1", "url": "https://www.ensembl.org/id/ENST00000675433.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502122.1", "url": "https://www.ensembl.org/id/ENSP00000502122.1" } ] } }, { "isoform_ac": "A0A6Q8PFV6-1", "url": "", "sequence": { "sequence": "LLVSTRGDNEKVQRELSHLQSENDAAKDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVPVEISGAIEEEFTVARLYISKIKSEVKSVVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQ", "length": 132, "header": "tr|A0A6Q8PFV6-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57575272, "end_pos": 57572061, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676352.1", "url": "https://www.ensembl.org/id/ENST00000676352.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501978.1", "url": "https://www.ensembl.org/id/ENSP00000501978.1" } ] } }, { "isoform_ac": "A0A6Q8PGG7-1", "url": "", "sequence": { "sequence": "LVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRIKEAVRYKSSGKRGHSAQIASSWLFSFFIAAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQATPSSTSDM", "length": 134, "header": "tr|A0A6Q8PGG7-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57581566, "end_pos": 57580956, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675634.1", "url": "https://www.ensembl.org/id/ENST00000675634.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502231.1", "url": "https://www.ensembl.org/id/ENSP00000502231.1" } ] } }, { "isoform_ac": "A0A6Q8PGJ3-1", "url": "", "sequence": { "sequence": "MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKPYVFDRVFPPNTTQEQVYHACAMQIVKDVLAGYNGTIFAYGQTSSGKTHTMEGKLHDPQLMGIIPRIARDIFNHIYSMDENLEFHIKVSYFEIYLDKIRDLLDVTKTNLSVHEDKNRVPFVKGCTERFVSSPEEILDVIDEGKSNRHVAVTNMNEHSSRSHSIFLINIKQENMETEQKLSGKLYLVDLAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYRDSKMTRILQDSLGGNCRTTMFICCSPSSYNDAETKSTLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEKEKTKAQKETIAKLEAELSRWRNGENVPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEEIRRLYKQLDDKDDEINQQSQLIEKLKQQMLDQEELLVSTRGDNEKVQRELSHLQSENDAAKDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVATMLSLESELQRLQEVSGHQRKRIAEVLNGLMKDLSEFSVIVGNGEIKLPVEISGAIEEEFTVARLYISKIKSEVKSVVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQHEAKIRSLTEYMQSVELKKRHLEESYDSLSDELAKLQAQETVHEVALKDKEPDTQDADEVKKALELQMESHREAHHRQLARLRDEINEKQKTIDELKDLNQKLQLELEKLQADYEKLKSEEHEKSTKLQELTFLYERHEQSKQDLKGLEETVARELQTLHNLRKLFVQDVTTRVKKSAEMEPEDSGGIHSQKQKISFLENNLEQLTKVHKQVDDWVSKLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRIKEAVRYKSSGKRGHSAQIAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQATPSSTSDMYFANSCTSSGATSSGGPLASYQKANMDNGNATDINDNRSDLPCGYEAEDQAKLFPLHQETAAS", "length": 1039, "header": "tr|A0A6Q8PGJ3-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57583176, "end_pos": 57550272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674619.1", "url": "https://www.ensembl.org/id/ENST00000674619.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502270.1", "url": "https://www.ensembl.org/id/ENSP00000502270.1" } ] } }, { "isoform_ac": "A0A6Q8PGN1-1", "url": "", "sequence": { "sequence": "SAEMEPEDSGGIHSQKQKISFLENNLEQLTKLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRIKEAVRYKSSGKRGHSAQI", "length": 103, "header": "tr|A0A6Q8PGN1-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57581171, "end_pos": 57578238, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675907.1", "url": "https://www.ensembl.org/id/ENST00000675907.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502360.1", "url": "https://www.ensembl.org/id/ENSP00000502360.1" } ] } }, { "isoform_ac": "A0A6Q8PGP0-1", "url": "", "sequence": { "sequence": "XNATDINDNSF", "length": 11, "header": "tr|A0A6Q8PGP0-1|A0A6Q8PGP0_HUMAN Computationally mapped isoform of Kinesin family member 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=4 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57584222, "end_pos": 57582602, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675866.1", "url": "https://www.ensembl.org/id/ENST00000675866.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502341.1", "url": "https://www.ensembl.org/id/ENSP00000502341.1" } ] } }, { "isoform_ac": "A0A6Q8PGP8-1", "url": "", "sequence": { "sequence": "XANMDNGNATDINDNRYNSPHYPWVLWVGPEEMIKFPLCPTWRFLEPLGKGEGVRLILFITVLSRRSSHSPASVQNISPPPIPSVASPYSSDKVWTKTTWASDDWVSLLPLEAL", "length": 114, "header": "tr|A0A6Q8PGP8-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57582926, "end_pos": 57581936, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676437.1", "url": "https://www.ensembl.org/id/ENST00000676437.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502358.1", "url": "https://www.ensembl.org/id/ENSP00000502358.1" } ] } }, { "isoform_ac": "A0A6Q8PGT2-1", "url": "", "sequence": { "sequence": "SAEMEPEDSGGIHSQKQKISFLENNLEQLTKVHKQGYG", "length": 38, "header": "tr|A0A6Q8PGT2-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57581023, "end_pos": 57578238, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674776.1", "url": "https://www.ensembl.org/id/ENST00000674776.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502434.1", "url": "https://www.ensembl.org/id/ENSP00000502434.1" } ] } }, { "isoform_ac": "A0A6Q8PH22-1", "url": "", "sequence": { "sequence": "ATMLSLESELQRLQEPVEISGAIEEEFTVARLYISKIKSEVKSVVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQ", "length": 78, "header": "tr|A0A6Q8PH22-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57575272, "end_pos": 57572580, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675629.1", "url": "https://www.ensembl.org/id/ENST00000675629.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502531.1", "url": "https://www.ensembl.org/id/ENSP00000502531.1" } ] } }, { "isoform_ac": "A0A6Q8PH72-1", "url": "", "sequence": { "sequence": "MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKLHDPQLMGIIPRIARDIFNHIYSMDENLEFHIK", "length": 78, "header": "tr|A0A6Q8PH72-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57564212, "end_pos": 57550272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676359.1", "url": "https://www.ensembl.org/id/ENST00000676359.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502609.1", "url": "https://www.ensembl.org/id/ENSP00000502609.1" } ] } }, { "isoform_ac": "A0A6Q8PH74-1", "url": "", "sequence": { "sequence": "MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGVSVAQEGIRGGGRWLNLPAPRRALVSAGPFAPPPRRSSFILFPAAPPLPCIRMAGCGLARPAAESLQSGRGLLSYLREIQLPFAAVCSVSTR", "length": 135, "header": "tr|A0A6Q8PH74-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": {} }, { "isoform_ac": "A0A6Q8PHA9-1", "url": "", "sequence": { "sequence": "MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGRLSPQRDWINILGEAICF", "length": 61, "header": "tr|A0A6Q8PHA9-1|KIF5A_HUMAN Computationally mapped isoform of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57563455, "end_pos": 57550272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675216.1", "url": "https://www.ensembl.org/id/ENST00000675216.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502608.1", "url": "https://www.ensembl.org/id/ENSP00000502608.1" } ] } }, { "isoform_ac": "J3KNA1-1", "url": "", "sequence": { "sequence": "MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGVSYFEIYLDKIRDLLDVTKTNLSVHEDKNRVPFVKGCTERFVSSPEEILDVIDEGKSNRHVAVTNMNEHSSRSHSIFLINIKQENMETEQKLSGKLYLVDLAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYRDSKMTRILQDSLGGNCRTTMFICCSPSSYNDAETKSTLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEKEKTKAQKETIAKLEAELSRWRNGENVPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEEIRRLYKQLDDKDDEINQQSQLIEKLKQQMLDQEELLVSTRGDNEKVQRELSHLQSENDAAKDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVATMLSLESELQRLQEVSGHQRKRIAEVLNGLMKDLSEFSVIVGNGEIKLPVEISGAIEEEFTVARLYISKIKSEVKSVVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQHEAKIRSLTEYMQSVELKKRHLEESYDSLSDELAKLQAQETVHEVALKDKEPDTQDADEVKKALELQMESHREAHHRQLARLRDEINEKQKTIDELKDLNQKLQLELEKLQADYEKLKSEEHEKSTKLQELTFLYERHEQSKQDLKGLEETVARELQTLHNLRKLFVQDVTTRVKKSAEMEPEDSGGIHSQKQKISFLENNLEQLTKVHKQLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRIKEAVRYKSSGKRGHSAQIAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQATPSSTSDMYFANSCTSSGATSSGGPLASYQKANMDNGNATDINDNRSDLPCGYEAEDQAKLFPLHQETAAS", "length": 943, "header": "tr|J3KNA1-1|J3KNA1_HUMAN Computationally mapped isoform of Kinesin-like protein OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=1 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57583176, "end_pos": 57550272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000286452.5", "url": "https://www.ensembl.org/id/ENST00000286452.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000286452.5", "url": "https://www.ensembl.org/id/ENSP00000286452.5" } ] } }, { "isoform_ac": "Q12840-1", "url": "", "sequence": { "sequence": "MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKPYVFDRVFPPNTTQEQVYHACAMQIVKDVLAGYNGTIFAYGQTSSGKTHTMEGKLHDPQLMGIIPRIARDIFNHIYSMDENLEFHIKVSYFEIYLDKIRDLLDVTKTNLSVHEDKNRVPFVKGCTERFVSSPEEILDVIDEGKSNRHVAVTNMNEHSSRSHSIFLINIKQENMETEQKLSGKLYLVDLAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYRDSKMTRILQDSLGGNCRTTMFICCSPSSYNDAETKSTLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEKEKTKAQKETIAKLEAELSRWRNGENVPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEEIRRLYKQLDDKDDEINQQSQLIEKLKQQMLDQEELLVSTRGDNEKVQRELSHLQSENDAAKDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVATMLSLESELQRLQEVSGHQRKRIAEVLNGLMKDLSEFSVIVGNGEIKLPVEISGAIEEEFTVARLYISKIKSEVKSVVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQHEAKIRSLTEYMQSVELKKRHLEESYDSLSDELAKLQAQETVHEVALKDKEPDTQDADEVKKALELQMESHREAHHRQLARLRDEINEKQKTIDELKDLNQKLQLELEKLQADYEKLKSEEHEKSTKLQELTFLYERHEQSKQDLKGLEETVARELQTLHNLRKLFVQDVTTRVKKSAEMEPEDSGGIHSQKQKISFLENNLEQLTKVHKQLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRIKEAVRYKSSGKRGHSAQIAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQATPSSTSDMYFANSCTSSGATSSGGPLASYQKANMDNGNATDINDNRSDLPCGYEAEDQAKLFPLHQETAAS", "length": 1032, "header": "sp|Q12840-1|KIF5A_HUMAN Isoform 1 of Kinesin heavy chain isoform 5A OS=Homo sapiens OX=9606 GN=KIF5A PE=1 SV=2 CANONICAL=Q12840-1" }, "locus": { "chromosome": "12", "start_pos": 57583176, "end_pos": 57550272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455537.7", "url": "https://www.ensembl.org/id/ENST00000455537.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000408979.2", "url": "https://www.ensembl.org/id/ENSP00000408979.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 397, "end_pos": 397, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q12840", "url": "https://www.uniprot.org/uniprot/Q12840" } ], "site_lbl": "Thr397" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Opposing motor activities of dynein and kinesin determine retention and transport of MHC class II-containing compartments.", "journal": "Journal of cell science", "date": "1999", "authors": "Wubbolts R, Fernandez-Borja M, Jordens I, Reits E, Dusseljee S, Echeverri C, Vallee RB, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10036229", "url": "https://glygen.org/publication/PubMed/10036229" } ] }, { "title": "Coupling of coat assembly and vesicle budding to packaging of putative cargo receptors.", "journal": "Cell", "date": "1999", "authors": "Bremser M, Nickel W, Schweikert M, Ravazzola M, Amherdt M, Hughes CA, Sollner TH, Rothman JE, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10052452", "url": "https://glygen.org/publication/PubMed/10052452" } ] }, { "title": "Identification of destabilizing residues in HLA class II-selected bacteriophage display libraries edited by HLA-DM.", "journal": "European journal of immunology", "date": "1999", "authors": "Raddrizzani L, Bono E, Vogt AB, Kropshofer H, Gallazzi F, Sturniolo T, Hammerling GJ, Sinigaglia F, Hammer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10064083", "url": "https://glygen.org/publication/PubMed/10064083" } ] }, { "title": "Cathepsin S required for normal MHC class II peptide loading and germinal center development.", "journal": "Immunity", "date": "1999", "authors": "Shi GP, Villadangos JA, Dranoff G, Small C, Gu L, Haley KJ, Riese R, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10072072", "url": "https://glygen.org/publication/PubMed/10072072" } ] }, { "title": "GTP-dependent binding of ADP-ribosylation factor to coatomer in close proximity to the binding site for dilysine retrieval motifs and p23.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Zhao L, Helms JB, Brunner J, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10318838", "url": "https://glygen.org/publication/PubMed/10318838" } ] }, { "title": "NSF N-terminal domain crystal structure: models of NSF function.", "journal": "Molecular cell", "date": "1999", "authors": "Yu RC, Jahn R, Brunger AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10445031", "url": "https://glygen.org/publication/PubMed/10445031" } ] }, { "title": "Direct transport of newly synthesized HLA-DR from the trans-Golgi network to major histocompatibility complex class II containing compartments (MIICS) demonstrated using a novel tyrosine-sulfated chimera.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Davidson HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10480952", "url": "https://glygen.org/publication/PubMed/10480952" } ] }, { "title": "Role of metal ions in the T- to R-allosteric transition in the insulin hexamer.", "journal": "Biochemistry", "date": "1999", "authors": "Kadima W", "evidence": [ { "database": "Reactome", "id": "R-HSA-264876", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264876" } ], "reference": [ { "type": "PubMed", "id": "10521251", "url": "https://glygen.org/publication/PubMed/10521251" } ] }, { "title": "Cell surface expression and metabolism of major histocompatibility complex class II invariant chain (CD74) by diverse cell lines.", "journal": "Immunology", "date": "1999", "authors": "Ong GL, Goldenberg DM, Hansen HJ, Mattes MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10540230", "url": "https://glygen.org/publication/PubMed/10540230" } ] }, { "title": "An NSF function distinct from ATPase-dependent SNARE disassembly is essential for Golgi membrane fusion.", "journal": "Nature cell biology", "date": "1999", "authors": "Muller JM, Rabouille C, Newman R, Shorter J, Freemont P, Schiavo G, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "The leucine-based sorting motifs in the cytoplasmic domain of the invariant chain are recognized by the clathrin adaptors AP1 and AP2 and their medium chains.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hofmann MW, Honing S, Rodionov D, Dobberstein B, von Figura K, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10593899", "url": "https://glygen.org/publication/PubMed/10593899" } ] }, { "title": "Proteases involved in MHC class II antigen presentation.", "journal": "Immunological reviews", "date": "1999", "authors": "Villadangos JA, Bryant RA, Deussing J, Driessen C, Lennon-Dumenil AM, Riese RJ, Roth W, Saftig P, Shi GP, Chapman HA, Peters C, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631941", "url": "https://glygen.org/publication/PubMed/10631941" } ] }, { "title": "The impact of the non-classical MHC proteins HLA-DM and HLA-DO on loading of MHC class II molecules.", "journal": "Immunological reviews", "date": "1999", "authors": "Kropshofer H, Hammerling GJ, Vogt AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631952", "url": "https://glygen.org/publication/PubMed/10631952" } ] }, { "title": "Enzymatic reduction of disulfide bonds in lysosomes: characterization of a gamma-interferon-inducible lysosomal thiol reductase (GILT).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Arunachalam B, Phan UT, Geuze HJ, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10639150", "url": "https://glygen.org/publication/PubMed/10639150" } ] }, { "title": "Role for cathepsin F in invariant chain processing and major histocompatibility complex class II peptide loading by macrophages.", "journal": "The Journal of experimental medicine", "date": "2000", "authors": "Shi GP, Bryant RA, Riese R, Verhelst S, Driessen C, Li Z, Bromme D, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10748235", "url": "https://glygen.org/publication/PubMed/10748235" } ] }, { "title": "Decoding of sorting signals by coatomer through a GTPase switch in the COPI coat complex.", "journal": "Cell", "date": "2000", "authors": "Goldberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": 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"https://glygen.org/publication/PubMed/11689559" } ] }, { "title": "Kinectin is a key effector of RhoG microtubule-dependent cellular activity.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Vignal E, Blangy A, Martin M, Gauthier-Rouviere C, Fort P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5625970", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5625970" } ], "reference": [ { "type": "PubMed", "id": "11689693", "url": "https://glygen.org/publication/PubMed/11689693" } ] }, { "title": "KDEL-cargo regulates interactions between proteins involved in COPI vesicle traffic: measurements in living cells using FRET.", "journal": "Developmental cell", "date": "2001", "authors": "Majoul I, Straub M, Hell SW, Duden R, Soling HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11703931", "url": "https://glygen.org/publication/PubMed/11703931" } ] }, { "title": "Manipulation of oxidative protein folding and PDI redox state in mammalian cells.", "journal": "The EMBO journal", "date": "2001", "authors": "Mezghrani A, Fassio A, Benham A, Simmen T, Braakman I, Sitia R", "evidence": [ { "database": "Reactome", "id": "R-HSA-264876", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264876" } ], "reference": [ { "type": "PubMed", "id": "11707400", "url": "https://glygen.org/publication/PubMed/11707400" } ] }, { "title": "Recruitment to Golgi membranes of ADP-ribosylation factor 1 is mediated by the cytoplasmic domain of p23.", "journal": "The EMBO journal", "date": "2001", "authors": "Gommel DU, Memon AR, Heiss A, Lottspeich F, Pfannstiel J, Lechner J, Reinhard C, Helms JB, Nickel W, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11726511", "url": "https://glygen.org/publication/PubMed/11726511" } ] }, { "title": "Golgi-to-endoplasmic reticulum (ER) retrograde traffic in yeast requires Dsl1p, a component of the ER target site that interacts with a COPI coat subunit.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Reilly BA, Kraynack BA, VanRheenen SM, Waters MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11739780", "url": "https://glygen.org/publication/PubMed/11739780" } ] }, { "title": "Sorting of Golgi resident proteins into different subpopulations of COPI vesicles: a role for ArfGAP1.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Lanoix J, Ouwendijk J, Stark A, Szafer E, Cassel D, Dejgaard K, Weiss M, Nilsson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "11748249", "url": "https://glygen.org/publication/PubMed/11748249" } ] }, { "title": "Central spindle assembly and cytokinesis require a kinesin-like protein/RhoGAP complex with microtubule bundling activity.", "journal": "Developmental cell", "date": "2002", "authors": "Mishima M, Kaitna S, Glotzer M", "evidence": [ { "database": "Reactome", "id": "R-HSA-983189", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983189" } ], "reference": [ { "type": "PubMed", "id": "11782313", "url": "https://glygen.org/publication/PubMed/11782313" } ] }, { "title": "Trafficking of MHC class II molecules in the late secretory pathway.", "journal": "Current opinion in immunology", "date": "2002", "authors": "Hiltbold EM, Roche PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11790530", "url": "https://glygen.org/publication/PubMed/11790530" } ] }, { "title": "Specific role for cathepsin S in the generation of antigenic peptides in vivo.", "journal": "European journal of immunology", "date": "2002", "authors": "Pluger EB, Boes M, Alfonso C, Schroter CJ, Kalbacher H, Ploegh HL, Driessen C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11813165", "url": "https://glygen.org/publication/PubMed/11813165" } ] }, { "title": "Multiple roles of the invariant chain in MHC class II function.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Stumptner-Cuvelette P, Benaroch P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11853874", "url": 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