{ "uniprot_canonical_ac": "O75935-1", "uniprot_ac": "O75935", "uniprot_id": "DCTN3_HUMAN", "mass": { "chemical_mass": 21119.0, "monoisotopic_mass": 21119.0 }, "refseq": { "ac": "NP_001268354", "name": "dynactin subunit 3 isoform 3", "summary": "This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268354" }, "gene_names": [ { "name": "DCTN3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75935", "id": "O75935" }, { "name": "DCTN-22; DCTN22", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268354", "id": "NP_001268354" }, { "name": "DCTN22", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75935", "id": "O75935" }, { "name": "DCTN3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268354", "id": "NP_001268354" } ], "protein_names": [ { "name": "Dynactin subunit 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75935" }, { "name": "Dynactin complex subunit 22 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75935" }, { "name": "dynactin light chain; dynactin complex subunit 22 kDa subunit; dynactin 3 (p22)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268354", "id": "NP_001268354" }, { "name": "dynactin subunit 3 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268354", "id": "NP_001268354" }, { "name": "p22", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75935" } ], "function": [ { "annotation": "Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules (By similarity). Together with dynein may be involved in spindle assembly and cytokinesis (PubMed:9722614).", "evidence": [ { "database": "UniProtKB", "id": "O75935", "url": "https://www.uniprot.org/uniprot/O75935#function" }, { "database": "PubMed", "id": "9722614", "url": "https://glygen.org/publication/PubMed/9722614" }, { "database": "UniProtKB", "id": "F1SEC0", "url": "https://www.uniprot.org/uniprot/F1SEC0#function" } ] }, { "annotation": "Study found that in peripheral blood mononuclear cells the median expression of KIFC3, KIF1B, and KIF5C was much lower than the expression of dynactin subunits DCTN1 and DCTN3, in both sporadic amyotrophic lateral sclerosis and healthy cases", "evidence": [ { "database": "RefSeq", "id": "NP_001268354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268354" }, { "database": "PubMed", "id": "26954557", "url": "https://glygen.org/publication/PubMed/26954557" } ] }, { "annotation": "Study on the Prognostic Values of Dynactin Genes in Low-Grade Glioma.", "evidence": [ { "database": "RefSeq", "id": "NP_001268354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268354" }, { "database": "PubMed", "id": "33896271", "url": "https://glygen.org/publication/PubMed/33896271" } ] }, { "annotation": "This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001268354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268354" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "93.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "92.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "91.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137100" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75935", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75935" } ], "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", 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Dynactin subunit 3 OS=Homo sapiens OX=9606 GN=DCTN3 PE=1 SV=1 CANONICAL=O75935-1" }, "locus": { "chromosome": "9", "start_pos": 34620464, "end_pos": 34613785, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000259632.12", "url": "https://www.ensembl.org/id/ENST00000259632.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000259632.7", "url": "https://www.ensembl.org/id/ENSP00000259632.7" } ] } }, { "isoform_ac": "O75935-2", "url": "", "sequence": { "sequence": "MAGLTDLQRLQARVEELERWVYGPGGARGSRKVADGLVKVQVALGNISSKRERVKILYKKIEDLIKYLDPEYIDRIAIPDASKLQFILAEEQFILSQVALLEQVNALVPMLDSAHIKAVPEHAARLQRLAQIHIQQQAPWGVGVRDEAGSLVEDVGFAQFLSVLHFGPTGPVCGNH", "length": 176, "header": "sp|O75935-2|DCTN3_HUMAN Isoform 2 of Dynactin subunit 3 OS=Homo sapiens OX=9606 GN=DCTN3 PE=1 SV=1 CANONICAL=O75935-1" }, "locus": { "chromosome": "9", "start_pos": 34620464, "end_pos": 34614082, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341694.6", "url": "https://www.ensembl.org/id/ENST00000341694.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000343986.2", "url": "https://www.ensembl.org/id/ENSP00000343986.2" } ] } }, { "isoform_ac": "O75935-3", "url": "", "sequence": { "sequence": "MAGLTDLQRLQARVEELERWVYGPGGARGSRKVADGLVKVQVALGNISSKRERVKILYKKIEDLIKYLDPEYIDRIAIPDASKLQFILAAVPEHAARLQRLAQIHIQQQDQCVEITEESKALLEEYNKTTMLLSKQFVQWDELLCQLEAATQVKPAEE", "length": 158, "header": "sp|O75935-3|DCTN3_HUMAN Isoform 3 of Dynactin subunit 3 OS=Homo sapiens OX=9606 GN=DCTN3 PE=1 SV=1 CANONICAL=O75935-1" }, "locus": { "chromosome": "9", "start_pos": 34620464, "end_pos": 34613785, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378916.8", "url": "https://www.ensembl.org/id/ENST00000378916.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000368196.4", "url": "https://www.ensembl.org/id/ENSP00000368196.4" } ] } }, { "isoform_ac": "X6RA56-1", "url": "", "sequence": { "sequence": "MAGLTDLQRLQARVEELERWVYGPGGARGSRKVADGLVKVQVALGNISSKRERVKILYKKIEDLIKYLDPEYIDRIAIPDASKLQFILAEEQFILSQVALLEQVNALVPMLDSAHIKAVPEHAARLQRLAQIHIQQQVWEGR", "length": 142, "header": "tr|X6RA56-1|DCTN3_HUMAN Computationally mapped isoform of Dynactin subunit 3 OS=Homo sapiens OX=9606 GN=DCTN3 PE=1 SV=1 CANONICAL=O75935-1" }, "locus": { "chromosome": "9", "start_pos": 34620464, "end_pos": 34614695, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378913.6", "url": "https://www.ensembl.org/id/ENST00000378913.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000368193.2", "url": "https://www.ensembl.org/id/ENSP00000368193.2" } ] } }, { "isoform_ac": "X6RCK5-1", "url": "", "sequence": { "sequence": "QRLQARVEELERWVYGPGGARGSRKVADGLVKVQVALGNISSKRERVKILYKKIEDLIKYLDPEYIDRIAIPDASKLQFILAAVPEHAARLQRLAQIHIQQQDQCVEITEESKALLEEYNKTTMLLSKQFVQWDELLCQLEAATQVKPAEE", "length": 151, "header": "tr|X6RCK5-1|X6RCK5_HUMAN Computationally mapped isoform of Dynactin subunit 3 OS=Homo sapiens OX=9606 GN=DCTN3 PE=1 SV=1 CANONICAL=O75935-1" }, "locus": { "chromosome": "9", "start_pos": 34620443, "end_pos": 34613785, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421919.5", "url": "https://www.ensembl.org/id/ENST00000421919.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390842.1", "url": "https://www.ensembl.org/id/ENSP00000390842.1" } ] } }, { "isoform_ac": "X6RLR1-1", "url": "", "sequence": { "sequence": "MAGLTDLQRLQARVEELERWVYGPGGARGSRKVADGLVKVQVALGNISSKRERVKILYKKIEDLIKYLDPEYIDRIAIPDASKLQFILAEEQFILSQVALLEQVNALVPMLDSAHIKAVPEHAARLQRLAQIHIQQQIPILTLTYNQTMLLSKQFVQWDELLCQLEAATQVKPAEE", "length": 176, "header": "tr|X6RLR1-1|DCTN3_HUMAN Computationally mapped isoform of Dynactin subunit 3 OS=Homo sapiens OX=9606 GN=DCTN3 PE=1 SV=1 CANONICAL=O75935-1" }, "locus": { "chromosome": "9", "start_pos": 34620464, "end_pos": 34613785, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000477738.6", "url": "https://www.ensembl.org/id/ENST00000477738.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000432915.2", "url": "https://www.ensembl.org/id/ENSP00000432915.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "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-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "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-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10318838", "url": "https://glygen.org/publication/PubMed/10318838" } ] }, { "title": "Membrane tubule-mediated reassembly and maintenance of the Golgi complex is disrupted by phospholipase A2 antagonists.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "de Figueiredo P, Polizotto RS, Drecktrah D, Brown WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811436" } ], "reference": [ { "type": "PubMed", "id": "10359595", "url": "https://glygen.org/publication/PubMed/10359595" } ] }, { "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-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "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": "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-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "Evidence for a COP-I-independent transport route from the Golgi complex to the endoplasmic reticulum.", "journal": "Nature cell biology", "date": "1999", "authors": "Girod A, Storrie B, Simpson JC, Johannes L, Goud B, Roberts LM, Lord JM, Nilsson T, Pepperkok R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811436" } ], "reference": [ { "type": "PubMed", "id": "10559986", "url": "https://glygen.org/publication/PubMed/10559986" } ] }, { "title": "Rab6 coordinates a novel Golgi to ER retrograde transport pathway in live cells.", "journal": "The Journal of cell biology", "date": "1999", "authors": "White J, Johannes L, Mallard F, Girod A, Grill S, Reinsch S, Keller P, Tzschaschel B, Echard A, Goud B, Stelzer EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811436" } ], "reference": [ { "type": "PubMed", "id": "10562278", "url": "https://glygen.org/publication/PubMed/10562278" } ] }, { "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": "The role of the tethering proteins p115 and GM130 in transport through the Golgi apparatus in vivo.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Seemann J, Jokitalo EJ, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10679020", "url": "https://glygen.org/publication/PubMed/10679020" } ] }, { "title": "Functional probing of the human glucocorticoid receptor steroid-interacting surface by site-directed mutagenesis. Gln-642 plays an important role in steroid recognition and binding.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lind U, Greenidge P, Gillner M, Koehler KF, Wright A, Carlstedt-Duke J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371497", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371497" } ], "reference": [ { "type": "PubMed", "id": "10747884", "url": "https://glygen.org/publication/PubMed/10747884" } ] }, { "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-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10761932", "url": "https://glygen.org/publication/PubMed/10761932" } ] }, { "title": "Lysosomal cathepsin B plays an important role in antigen processing, while cathepsin D is involved in degradation of the invariant chain inovalbumin-immunized mice.", "journal": "Immunology", "date": "2000", "authors": "Zhang T, Maekawa Y, Hanba J, Dainichi T, Nashed BF, Hisaeda H, Sakai T, Asao T, Himeno K, Good RA, Katunuma N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10809954", "url": "https://glygen.org/publication/PubMed/10809954" } ] }, { "title": "Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Allan BB, Moyer BD, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10903204", "url": "https://glygen.org/publication/PubMed/10903204" } ] }, { "title": "COP I domains required for coatomer integrity, and novel interactions with ARF and ARF-GAP.", "journal": "The EMBO journal", "date": "2000", "authors": "Eugster A, Frigerio G, Dale M, Duden R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10921873", "url": "https://glygen.org/publication/PubMed/10921873" } ] }, { "title": "The p115-interactive proteins GM130 and giantin participate in endoplasmic reticulum-Golgi traffic.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Alvarez C, Garcia-Mata R, Hauri HP, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11035033", "url": "https://glygen.org/publication/PubMed/11035033" } ] }, { "title": "The centrosomal protein C-Nap1 is required for cell cycle-regulated centrosome cohesion.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Mayor T, Stierhof YD, Tanaka K, Fry AM, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380284", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380284" } ], "reference": [ { "type": "PubMed", "id": "11076968", "url": "https://glygen.org/publication/PubMed/11076968" } ] }, { "title": "The expanding superfamily of phospholipase A(2) enzymes: classification and characterization.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Six DA, Dennis EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811436" } ], "reference": [ { "type": "PubMed", "id": "11080672", "url": "https://glygen.org/publication/PubMed/11080672" } ] }, { "title": "Functional characterization of novel human ARFGAP3.", "journal": "FEBS letters", "date": "2001", "authors": "Liu X, Zhang C, Xing G, Chen Q, He F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11172815", "url": "https://glygen.org/publication/PubMed/11172815" } ] }, { "title": "Rab1 interaction with a GM130 effector complex regulates COPII vesicle cis--Golgi tethering.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2001", "authors": "Moyer BD, Allan BB, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11285137", "url": "https://glygen.org/publication/PubMed/11285137" } ] }, { "title": "The Golgi matrix protein GM130: a specific interacting partner of the small GTPase rab1b.", "journal": "EMBO reports", "date": "2001", "authors": "Weide T, Bayer M, Koster M, Siebrasse JP, Peters R, Barnekow A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "11306556", "url": "https://glygen.org/publication/PubMed/11306556" } ] }, { "title": "beta III spectrin binds to the Arp1 subunit of dynactin.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL", "evidence": [ { "database": "Reactome", "id": 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