{ "uniprot_canonical_ac": "Q96EK5-1", "uniprot_ac": "Q96EK5", "uniprot_id": "KBP_HUMAN", "mass": { "chemical_mass": 71814.0, "monoisotopic_mass": 71814.0 }, "refseq": {}, "gene_names": [ { "name": "KIFBP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q96EK5", "id": "Q96EK5" }, { "name": "KBP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q96EK5", "id": "Q96EK5" }, { "name": "KIAA1279", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q96EK5", "id": "Q96EK5" }, { "name": "KIF1BP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q96EK5", "id": "Q96EK5" } ], "protein_names": [ { "name": "KIF-binding protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q96EK5" }, { "name": "KIF1-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q96EK5" }, { "name": "Kinesin family binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q96EK5" } ], "function": [ { "annotation": "Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5#function" }, { "database": "PubMed", "id": "23427148", "url": "https://glygen.org/publication/PubMed/23427148" }, { "database": "PubMed", "id": "20621975", "url": "https://glygen.org/publication/PubMed/20621975" }, { "database": "PubMed", "id": "16225668", "url": "https://glygen.org/publication/PubMed/16225668" } ] } ], "disease": [ { "disease_id": "DOID:0060481", "recommended_name": { "id": "DOID:0060481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060481", "name": "Goldberg-Shprintzen syndrome", "description": "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1." }, "synonyms": [ { "id": "DOID:0060481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060481", "name": "Goldberg-Shprintzen megacolon syndrome", "description": "" }, { "id": "MONDO:0012280", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012280", "name": "Goldberg-Shprintzen megacolon syndrome", "description": "Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." }, { "id": "MONDO:0012280", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012280", "name": "GOSHS", "description": "" }, { "id": "MONDO:0012280", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012280", "name": "Goldberg-Shprintzen megacolon syndrome", "description": "" }, { "id": "MONDO:0012280", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012280", "name": "megacolon-microcephaly syndrome", "description": "" }, { "id": "MONDO:0012280", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012280", "name": "Goldberg-Shprintzen syndrome", "description": "" }, { "id": "MIM:609460", "resource": "MIM", "url": "https://www.omim.org/entry/609460", "name": "Goldberg-Shprintzen syndrome", "description": "Goldberg-Shprintzen syndrome" } ], "evidence": [ { "id": "609460", "database": "MIM", "url": "https://www.omim.org/entry/609460" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "83.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "70.85", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "77.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "81.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198954" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q96EK5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q96EK5" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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": 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"MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHIEVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHAYYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT", "length": 621, "header": "sp|Q96EK5-1|KBP_HUMAN Isoform 1 of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "isoforms": [ { "isoform_ac": "A0A0D9SFK7-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDRQHRRA", "length": 297, "header": "tr|A0A0D9SFK7-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69015557, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000626493.2", "url": "https://www.ensembl.org/id/ENST00000626493.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486692.1", "url": "https://www.ensembl.org/id/ENSP00000486692.1" } ] } }, { "isoform_ac": "A0A1B0GTE2-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQGGSQHGSWLP", "length": 152, "header": "tr|A0A1B0GTE2-1|A0A1B0GTE2_HUMAN Computationally mapped isoform of Kinesin family binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=2 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 68999744, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637323.2", "url": "https://www.ensembl.org/id/ENST00000637323.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000489659.2", "url": "https://www.ensembl.org/id/ENSP00000489659.2" } ] } }, { "isoform_ac": "A0A1B0GTE6-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKMLLG", "length": 267, "header": "tr|A0A1B0GTE6-1|A0A1B0GTE6_HUMAN Computationally mapped isoform of Kinesin family binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69007638, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635779.2", "url": "https://www.ensembl.org/id/ENST00000635779.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000489663.1", "url": "https://www.ensembl.org/id/ENSP00000489663.1" } ] } }, { "isoform_ac": "A0A1B0GTX3-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKKNEEELQDKFQHLFSIFIHSCHGCAEDAQSGRPSAHPPRGPVHSCSGYA", "length": 312, "header": "tr|A0A1B0GTX3-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=2 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69041710, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635971.2", "url": "https://www.ensembl.org/id/ENST00000635971.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000489878.2", "url": "https://www.ensembl.org/id/ENSP00000489878.2" } ] } }, { "isoform_ac": "A0A1B0GU96-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRDGVSLCRPE", "length": 136, "header": "tr|A0A1B0GU96-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=2 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69000425, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637104.2", "url": "https://www.ensembl.org/id/ENST00000637104.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000490019.2", "url": "https://www.ensembl.org/id/ENSP00000490019.2" } ] } }, { "isoform_ac": "A0A1B0GUA3-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQRQGFTMLPRPQVIRLRWPPKVLGLQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHIEVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHAYYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT", "length": 646, "header": "tr|A0A1B0GUA3-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69016413, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638119.2", "url": "https://www.ensembl.org/id/ENST00000638119.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000490026.1", "url": "https://www.ensembl.org/id/ENSP00000490026.1" } ] } }, { "isoform_ac": "A0A1B0GUH6-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQKNEEELQDKFQHLFSIFIHSCHGCAEDAQSGRPSAHPPRGPVHSCSGYA", "length": 379, "header": "tr|A0A1B0GUH6-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=2 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69041710, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636200.2", "url": "https://www.ensembl.org/id/ENST00000636200.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000490113.2", "url": "https://www.ensembl.org/id/ENSP00000490113.2" } ] } }, { "isoform_ac": "A0A1B0GVY9-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQRWGLTVSPRFELSGTIIAHCSFHLLGSSSPPASAFIVAGTTGACHHS", "length": 189, "header": "tr|A0A1B0GVY9-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 68989859, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637101.2", "url": "https://www.ensembl.org/id/ENST00000637101.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000490704.1", "url": "https://www.ensembl.org/id/ENSP00000490704.1" } ] } }, { "isoform_ac": "A0A1B0GW21-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKNFIQKSY", "length": 270, "header": "tr|A0A1B0GW21-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=2 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69006862, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637420.2", "url": "https://www.ensembl.org/id/ENST00000637420.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000490404.2", "url": "https://www.ensembl.org/id/ENSP00000490404.2" } ] } }, { "isoform_ac": "A0A6Q8PGG2-1", "url": "", "sequence": { "sequence": "MKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHIEVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHAYYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT", "length": 449, "header": "tr|A0A6Q8PGG2-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69016413, "end_pos": 69000514, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674897.1", "url": "https://www.ensembl.org/id/ENST00000674897.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502225.1", "url": "https://www.ensembl.org/id/ENSP00000502225.1" } ] } }, { "isoform_ac": "A0A6Q8PH08-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRTT", "length": 204, "header": "tr|A0A6Q8PH08-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69015547, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674936.1", "url": "https://www.ensembl.org/id/ENST00000674936.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502484.1", "url": "https://www.ensembl.org/id/ENSP00000502484.1" } ] } }, { "isoform_ac": "A0A6Q8PH45-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHIEVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHAYYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT", "length": 604, "header": "tr|A0A6Q8PH45-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69016413, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674660.1", "url": "https://www.ensembl.org/id/ENST00000674660.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502562.1", "url": "https://www.ensembl.org/id/ENSP00000502562.1" } ] } }, { "isoform_ac": "A0A6Q8PHE6-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRITWVSCGLKEKKLKLHRLT", "length": 146, "header": "tr|A0A6Q8PHE6-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69000481, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676080.1", "url": "https://www.ensembl.org/id/ENST00000676080.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502706.1", "url": "https://www.ensembl.org/id/ENSP00000502706.1" } ] } }, { "isoform_ac": "A0A6Q8PHL8-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHIEVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHAYYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT", "length": 588, "header": "tr|A0A6Q8PHL8-1|KBP_HUMAN Computationally mapped isoform of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69016413, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675576.1", "url": "https://www.ensembl.org/id/ENST00000675576.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502750.1", "url": "https://www.ensembl.org/id/ENSP00000502750.1" } ] } }, { "isoform_ac": "Q96EK5-1", "url": "", "sequence": { "sequence": "MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHIEVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHAYYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT", "length": 621, "header": "sp|Q96EK5-1|KBP_HUMAN Isoform 1 of KIF-binding protein OS=Homo sapiens OX=9606 GN=KIFBP PE=1 SV=1 CANONICAL=Q96EK5-1" }, "locus": { "chromosome": "10", "start_pos": 69016413, "end_pos": 68988833, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361983.7", "url": "https://www.ensembl.org/id/ENST00000361983.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000354848.4", "url": "https://www.ensembl.org/id/ENSP00000354848.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q96EK5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96EK5" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 178, "end_pos": 178, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q96EK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96EK5" } ], "site_lbl": "Ser178" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.", "journal": "Am. J. Hum. Genet.", "date": "2005", "authors": "de Coo R.F., Oostra B.A., Bertoli-Avella A.M., Boven L.G., Hurst J.A., Lequin M.H., Willems P.J., de Graaff E., Breedveld G.J., Brooks A.S., Osinga J., Mancini G.M.S., Meijers C., Tibboel D., Hofstra R.M.W., Burzynski G.M., Matera I.", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "reference": [ { "type": "PubMed", "id": "15883926", "url": "https://glygen.org/publication/PubMed/15883926" } ] }, { "title": "The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein.", "journal": "BMC Cell Biol.", "date": "2005", "authors": "Wozniak MJ, Melzer M, Dorner C, Haring HU, Lammers R", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "reference": [ { "type": "PubMed", "id": "16225668", "url": "https://glygen.org/publication/PubMed/16225668" } ] }, { "title": "KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.", "journal": "Hum. Mol. Genet.", "date": "2010", "authors": "Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJ, Hofstra RM", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "reference": [ { "type": "PubMed", "id": "20621975", "url": "https://glygen.org/publication/PubMed/20621975" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" }, { "database": "iPTMnet", "id": "Q96EK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96EK5" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.", "journal": "Hum. Mol. Genet.", "date": "2013", "authors": "Drevillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, Gaillard D, Goossens M, Giurgea I", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "reference": [ { "type": "PubMed", "id": "23427148", "url": "https://glygen.org/publication/PubMed/23427148" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96EK5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96EK5" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96EK5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96EK5" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] } ], "pathway": [ { "id": "hsa:26128", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:26128", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q6ZPU9-1", "protein_name": "KIF-binding protein", "gene_name": "Kifbp", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MANAPGPEIREKFQAALALSRVELHKNPEKEPYKSKYGARALLEEVRALLGPAPEDEDEPAADDGPGDQALGAGEPREAEGPGAQRALRLAVVEFHLGVNHIDTEELSAGEEHLVRCLSLLRPYRLSLGCVSLYIQAQNNLGILWSEREEIETARTYLESSEALYSQYMKEIGSPPLDPTEHFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHMEMFEKAAHYCHSTLKRQLEHNAYHPMEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKIPATEDTPEVEGDVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESVRKRAVQFGTGELCDAISAVEEKVRYLRPLDFEEARELFLLGQHYVCEAKEFFQIDGYVTDHIEVVQDHSALFKVLSFFEADMERRCKMHKRRIAMLEPLTVDLNPQYYLLVSRQIQFEIAHAYYDMMDLKVAIADKLRDPDSHIVKKINSLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCETHPEAAQEIEVELELSKEMVSLLPTKMERFRAKMALT", "length": 617 }, "evidence": [ { "id": "Q96EK5", "url": "https://omabrowser.org/oma/group/Q96EK5/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VMX1-1", "protein_name": "KIF-binding protein", "gene_name": "", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MVIPKEILSDFKELYEKANRLVEEESRNDPPTDPFRSHYKARDVLIVLKKQLDDQLVSVQASEEDGGQDDRCYHSLLAFVCRDLGRIYIYTEEQAEGEKMLNRCLELVTPFKECPEGIIPFIGAINELSIVLASKEEYNKGLEILLEAEKIYEDFKASGLKPLAIQDVFNPPEEGQQSHEAGPKELESLYTLVSFYMAQMYGHLGEPEKSAKCCHRTLHRQLESKTYDPIDFALNTATLSQFYIGEKRFEEARHHLAAATLIMAEYEVHMLEPEMSEKQRQDVSETFKHRYADVARCWAKYGLYLMNTSKLRLMRDEDDEDAKNLEIVLRNMRLVEAEQSRFPGLDLTACENRISCEYCLTFDDAKLVFHFVNEWLDIAKDYYKAENEATEYSKIMQDYAEAYEHIAFFEENPENQAKMQKRRAKYLEDLLDLLDPIFYMKICRECWYGAGTAHAAVMDVRLDIIRATSTPAPEDIKKVNQSCMKAIKHFESYVKSYLVKPPSEEWRPNMDVEEQRHMLYAHFHIGRIYYKLISGHPLQQLEHLTSCHTYYQRFDAGCQLHKEAAETLQGEIGVVREMLQLLPLKINTIKARLNKAGLTA", "length": 600 }, "evidence": [ { "id": "Q96EK5", "url": "https://omabrowser.org/oma/group/Q96EK5/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "pmid": "" }, { "name": "mitochondrial transport", "id": "GO:0006839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006839", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "pmid": "" }, { "name": "central nervous system projection neuron axonogenesis", "id": "GO:0021952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021952", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "Q96EK5", "url": "https://www.uniprot.org/uniprot/Q96EK5" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 510, "end_pos": 512, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }