{ "uniprot_canonical_ac": "Q8N1B4-1", "uniprot_ac": "Q8N1B4", "uniprot_id": "VPS52_HUMAN", "mass": { "chemical_mass": 82221.0, "monoisotopic_mass": 82221.0 }, "refseq": { "ac": "NP_001276104", "name": "vacuolar protein sorting-associated protein 52 homolog isoform 3", "summary": "This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104" }, "gene_names": [ { "name": "VPS52", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8N1B4", "id": "Q8N1B4" }, { "name": "ARE1; dJ1033B10.5; SAC2; SACM2L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104", "id": "NP_001276104" }, { "name": "SACM2L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8N1B4", "id": "Q8N1B4" }, { "name": "VPS52", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104", "id": "NP_001276104" } ], "protein_names": [ { "name": "Vacuolar protein sorting-associated protein 52 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8N1B4" }, { "name": "SAC2 suppressor of actin mutations 2-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N1B4" }, { "name": "vacuolar protein sorting-associated protein 52 homolog isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104", "id": "NP_001276104" }, { "name": "vacuolar protein sorting-associated protein 52 homolog; SAC2 suppressor of actin mutations 2-like protein; vacuolar protein sorting 52 homolog; VPS52, GARP complex subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104", "id": "NP_001276104" } ], "function": [ { "annotation": "Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).", "evidence": [ { "database": "UniProtKB", "id": "Q8N1B4", "url": "https://www.uniprot.org/uniprot/Q8N1B4#function" }, { "database": "PubMed", "id": "15878329", "url": "https://glygen.org/publication/PubMed/15878329" }, { "database": "PubMed", "id": "25799061", "url": "https://glygen.org/publication/PubMed/25799061" }, { "database": "PubMed", "id": "18367545", "url": "https://glygen.org/publication/PubMed/18367545" } ] }, { "annotation": "Golgi associated retrograde protein complex, consisting of the Vps52, Vps53, and Vps54 proteins, shows significant conservation between various species but diversification and specialization result in important differences in human cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001276104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104" }, { "database": "PubMed", "id": "15878329", "url": "https://glygen.org/publication/PubMed/15878329" } ] }, { "annotation": "Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001276104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104" }, { "database": "PubMed", "id": "12366783", "url": "https://glygen.org/publication/PubMed/12366783" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001276104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104" }, { "database": "PubMed", "id": "12210484", "url": "https://glygen.org/publication/PubMed/12210484" } ] }, { "annotation": "The Sac2 operates upstream of granule docking, since loss of Sac2 prevented granule tethering to the plasma membrane and resulted in both reduced granule density and number of exocytic events.", "evidence": [ { "database": "RefSeq", "id": "NP_001276104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104" }, { "database": "PubMed", "id": "31533953", "url": "https://glygen.org/publication/PubMed/31533953" } ] }, { "annotation": "This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001276104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "92.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "91.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223501", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223501" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q8N1B4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N1B4" } ], "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": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" 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tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q8N1B4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N1B4" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"MAAAATMAAAARELVLRAGTSDMEEEEGPLAGGPGLQEPLQLGELDITSDEFILDEVDVHIQANLEDELVKEALKTGVDLRHYSKQVELELQQIEQKSIRDYIQESENIASLHNQITACDAVLERMEQMLGAFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAPVTEPRFLEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPMTNYQIPQTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYEEVAEKDDLMGVEDTAKKGFFSKPSLRSRNTIFTLGTRGSVISPTELEAPILVPHTAQRGEQRYPFEALFRSQHYALLDNSCREYLFICEFFVVSGPAAHDLFHAVMGRTLSMTLKHLDSYLADCYDAIAVFLCIHIVLRFRNIAAKRDVPALDRYWEQVLALLWPRFELILEMNVQSVRSTDPQRLGGLDTRPHYITRRYAEFSSALVSINQTIPNERTMQLLGQLQVEVENFVLRVAAEFSSRKEQLVFLINNYDMMLGVLMERAADDSKEVESFQQLLNARTQEFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEARVTQLIRGFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALPARAELINIHHLMVELKKHKPNF", "length": 723, "header": "sp|Q8N1B4-1|VPS52_HUMAN Isoform 1 of Vacuolar protein sorting-associated protein 52 homolog OS=Homo sapiens OX=9606 GN=VPS52 PE=1 SV=1 CANONICAL=Q8N1B4-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JIG2-1", "url": "", "sequence": { "sequence": "EFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEARVTQLIRGFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALPARAELINIHHLMVELKKHKPNF", "length": 125, "header": "tr|A0A0G2JIG2-1|VPS52_HUMAN Computationally mapped isoform of Vacuolar protein sorting-associated protein 52 homolog OS=Homo sapiens OX=9606 GN=VPS52 PE=1 SV=1 CANONICAL=Q8N1B4-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_MANN_CTG1", "start_pos": 33405839, "end_pos": 33404712, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462479.1", "url": "https://www.ensembl.org/id/ENST00000462479.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435031.1", "url": "https://www.ensembl.org/id/ENSP00000435031.1" } ] } }, { "isoform_ac": "E9PI03-1", "url": "", "sequence": { "sequence": "MAAAATMAAAARELVLRAGTSDMEEEEGPLVRARSCFSSVVPVLLASERPELGLGTRVGTWLLPVILPVWLPVPFPVIRPDPERDPSG", "length": 88, "header": "tr|E9PI03-1|VPS52_HUMAN Computationally mapped isoform of Vacuolar protein sorting-associated protein 52 homolog OS=Homo sapiens OX=9606 GN=VPS52 PE=1 SV=1 CANONICAL=Q8N1B4-1" }, "locus": { "chromosome": "6", "start_pos": 33250786, "end_pos": 33250523, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000482399.5", "url": "https://www.ensembl.org/id/ENST00000482399.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436612.1", "url": "https://www.ensembl.org/id/ENSP00000436612.1" } ] } }, { "isoform_ac": "Q8N1B4-1", "url": "", "sequence": { "sequence": "MAAAATMAAAARELVLRAGTSDMEEEEGPLAGGPGLQEPLQLGELDITSDEFILDEVDVHIQANLEDELVKEALKTGVDLRHYSKQVELELQQIEQKSIRDYIQESENIASLHNQITACDAVLERMEQMLGAFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAPVTEPRFLEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPMTNYQIPQTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYEEVAEKDDLMGVEDTAKKGFFSKPSLRSRNTIFTLGTRGSVISPTELEAPILVPHTAQRGEQRYPFEALFRSQHYALLDNSCREYLFICEFFVVSGPAAHDLFHAVMGRTLSMTLKHLDSYLADCYDAIAVFLCIHIVLRFRNIAAKRDVPALDRYWEQVLALLWPRFELILEMNVQSVRSTDPQRLGGLDTRPHYITRRYAEFSSALVSINQTIPNERTMQLLGQLQVEVENFVLRVAAEFSSRKEQLVFLINNYDMMLGVLMERAADDSKEVESFQQLLNARTQEFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEARVTQLIRGFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALPARAELINIHHLMVELKKHKPNF", "length": 723, "header": "sp|Q8N1B4-1|VPS52_HUMAN Isoform 1 of Vacuolar protein sorting-associated protein 52 homolog OS=Homo sapiens OX=9606 GN=VPS52 PE=1 SV=1 CANONICAL=Q8N1B4-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_QBL_CTG1", "start_pos": 33200499, "end_pos": 33179651, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383210.4", "url": "https://www.ensembl.org/id/ENST00000383210.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000372697.4", "url": "https://www.ensembl.org/id/ENSP00000372697.4" } ] } }, { "isoform_ac": "Q8N1B4-2", "url": "", "sequence": { "sequence": "MEQMLGAFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAPVTEPRFLEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPMTNYQIPQTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYEEVAEKDDLMGVEDTAKKGFFSKPSLRSRNTIFTLGTRGSVISPTELEAPILVPHTAQRGEQRYPFEALFRSQHYALLDNSCREYLFICEFFVVSGPAAHDLFHAVMGRTLSMTLKHLDSYLADCYDAIAVFLCIHIVLRFRNIAAKRDVPALDRYWEQVLALLWPRFELILEMNVQSVRSTDPQRLGGLDTRPHYITRRYAEFSSALVSINQTIPNERTMQLLGQLQVEVENFVLRVAAEFSSRKEQLVFLINNYDMMLGVLMERAADDSKEVESFQQLLNARTQEFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEARVTQLIRGFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALPARAELINIHHLMVELKKHKPNF", "length": 598, "header": "sp|Q8N1B4-2|VPS52_HUMAN Isoform 2 of Vacuolar protein sorting-associated protein 52 homolog OS=Homo sapiens OX=9606 GN=VPS52 PE=1 SV=1 CANONICAL=Q8N1B4-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q8N1B4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1B4" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 355, "end_pos": 355, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1B4", "url": "https://www.uniprot.org/uniprot/Q8N1B4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1B4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1B4" } ], "site_lbl": "Ser355" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A novel Rab6-interacting domain defines a family of Golgi-targeted coiled-coil proteins.", "journal": "Current biology : CB", "date": "1999", "authors": "Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "10209123", "url": "https://glygen.org/publication/PubMed/10209123" } ] }, { "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-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "10445031", "url": "https://glygen.org/publication/PubMed/10445031" } ] }, { "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-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "Vps52p, Vps53p, and Vps54p form a novel multisubunit complex required for protein sorting at the yeast late Golgi.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Conibear E, Stevens TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "10637310", "url": "https://glygen.org/publication/PubMed/10637310" } ] }, { "title": "Multiple aspects of Rab protein action in the secretory pathway: focus on Rab3 and Rab6.", "journal": "Biochimie", "date": "2000", "authors": "Darchen F, Goud B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "10865125", "url": "https://glygen.org/publication/PubMed/10865125" } ] }, { "title": "Ric1p and Rgp1p form a complex that catalyses nucleotide exchange on Ypt6p.", "journal": "The EMBO journal", "date": "2000", "authors": "Siniossoglou S, Peak-Chew SY, Pelham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "10990452", "url": "https://glygen.org/publication/PubMed/10990452" } ] }, { "title": "ADP-ribosylation factors (ARFs) and ARF-like 1 (ARL1) have both specific and shared effectors: characterizing ARL1-binding proteins.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Van Valkenburgh H, Shern JF, Sharer JD, Zhu X, Kahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "11303027", "url": "https://glygen.org/publication/PubMed/11303027" } ] }, { "title": "The structural basis of Arfaptin-mediated cross-talk between Rac and Arf signalling pathways.", "journal": "Nature", "date": "2001", "authors": "Tarricone C, Xiao B, Justin N, Walker PA, Rittinger K, Gamblin SJ, Smerdon SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "11346801", "url": "https://glygen.org/publication/PubMed/11346801" } ] }, { "title": "Role of Rab9 GTPase in facilitating receptor recruitment by TIP47.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Carroll KS, Hanna J, Simon I, Krise J, Barbero P, Pfeffer SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "11359012", "url": "https://glygen.org/publication/PubMed/11359012" } ] }, { "title": "An effector of Ypt6p binds the SNARE Tlg1p and mediates selective fusion of vesicles with late Golgi membranes.", "journal": "The EMBO journal", "date": "2001", "authors": "Siniossoglou S, Pelham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "11689439", "url": "https://glygen.org/publication/PubMed/11689439" } ] }, { "title": "Visualization of Rab9-mediated vesicle transport from endosomes to the trans-Golgi in living cells.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Barbero P, Bittova L, Pfeffer SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "11827983", "url": "https://glygen.org/publication/PubMed/11827983" } ] }, { "title": "Early/recycling endosomes-to-TGN transport involves two SNARE complexes and a Rab6 isoform.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Mallard F, Tang BL, Galli T, Tenza D, Saint-Pol A, Yue X, Antony C, Hong W, Goud B, Johannes L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "11839770", "url": "https://glygen.org/publication/PubMed/11839770" } ] }, { "title": "Sequential SNARE disassembly and GATE-16-GOS-28 complex assembly mediated by distinct NSF activities drives Golgi membrane fusion.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Muller JM, Shorter J, Newman R, Deinhardt K, Sagiv Y, Elazar Z, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "12070132", "url": "https://glygen.org/publication/PubMed/12070132" } ] }, { "title": "Linkage between polymorphisms in the prostate specific antigen ARE1 gene region, prostate cancer risk, and circulating tumor cells.", "journal": "The Prostate", "date": "2002", "authors": "Medeiros R, Morais A, Vasconcelos A, Costa S, Pinto D, Oliveira J, Carvalho R, Lopes C", "evidence": [ { "database": "RefSeq", "id": "NP_001276104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104" } ], "reference": [ { "type": "PubMed", "id": "12210484", "url": "https://glygen.org/publication/PubMed/12210484" } ] }, { "title": "Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: primary role of DQB1*0604.", "journal": "Tissue antigens", "date": "2002", "authors": "Matsuzaka Y, Makino S, Okamoto K, Oka A, Tsujimura A, Matsumiya K, Takahara S, Okuyama A, Sada M, Gotoh R, Nakatani T, Ota M, Katsuyama Y, Tamiya G, Inoko H", "evidence": [ { "database": "RefSeq", "id": "NP_001276104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276104" } ], "reference": [ { "type": "PubMed", "id": "12366783", "url": "https://glygen.org/publication/PubMed/12366783" } ] }, { "title": "Vps51p links the VFT complex to the SNARE Tlg1p.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Siniossoglou S, Pelham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "12377769", "url": "https://glygen.org/publication/PubMed/12377769" } ] }, { "title": "Golgi recruitment of GRIP domain proteins by Arf-like GTPase 1 is regulated by Arf-like GTPase 3.", "journal": "Current biology : CB", "date": "2003", "authors": "Setty SR, Shin ME, Yoshino A, Marks MS, Burd CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "12620188", "url": "https://glygen.org/publication/PubMed/12620188" } ] }, { "title": "The ARF-like GTPases Arl1p and Arl3p act in a pathway that interacts with vesicle-tethering factors at the Golgi apparatus.", "journal": "Current biology : CB", "date": "2003", "authors": "Panic B, Whyte JR, Munro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "12620189", "url": "https://glygen.org/publication/PubMed/12620189" } ] }, { "title": "Structural basis for Arl1-dependent targeting of homodimeric GRIP domains to the Golgi apparatus.", "journal": "Molecular cell", "date": "2003", "authors": "Panic B, Perisic O, Veprintsev DB, Williams RL, Munro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "14580338", "url": "https://glygen.org/publication/PubMed/14580338" } ] }, { "title": "Structural basis for recruitment of GRIP domain golgin-245 by small GTPase Arl1.", "journal": "Nature structural & molecular biology", "date": "2004", "authors": "Wu M, Lu L, Hong W, Song H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "14718928", "url": "https://glygen.org/publication/PubMed/14718928" } ] }, { "title": "Implication of ZW10 in membrane trafficking between the endoplasmic reticulum and Golgi.", "journal": "The EMBO journal", "date": "2004", "authors": "Hirose H, Arasaki K, Dohmae N, Takio K, Hatsuzawa K, Nagahama M, Tani K, Yamamoto A, Tohyama M, Tagaya M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "15029241", "url": "https://glygen.org/publication/PubMed/15029241" } ] }, { "title": "Multiple binding proteins suggest diverse functions for the N-ethylmaleimide sensitive factor.", "journal": "Journal of structural biology", "date": "2004", "authors": "Whiteheart SW, Matveeva EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "15037235", "url": "https://glygen.org/publication/PubMed/15037235" } ] }, { "title": "Targeting of the Arf-like GTPase Arl3p to the Golgi requires N-terminal acetylation and the membrane protein Sys1p.", "journal": "Nature cell biology", "date": "2004", "authors": "Behnia R, Panic B, Whyte JR, Munro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "15077113", "url": "https://glygen.org/publication/PubMed/15077113" } ] }, { "title": "Golgi targeting of ARF-like GTPase Arl3p requires its Nalpha-acetylation and the integral membrane protein Sys1p.", "journal": "Nature cell biology", "date": "2004", "authors": "Setty SR, Strochlic TI, Tong AH, Boone C, Burd CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "15077114", "url": "https://glygen.org/publication/PubMed/15077114" } ] }, { "title": "TMF is a golgin that binds Rab6 and influences Golgi morphology.", "journal": "BMC cell biology", "date": "2004", "authors": "Fridmann-Sirkis Y, Siniossoglou S, Pelham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "15128430", "url": "https://glygen.org/publication/PubMed/15128430" } ] }, { "title": "Autoantigen Golgin-97, an effector of Arl1 GTPase, participates in traffic from the endosome to the trans-golgi network.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Lu L, Tai G, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811440", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811440" } ], "reference": [ { "type": "PubMed", "id": "15269279", "url": "https://glygen.org/publication/PubMed/15269279" } ] }, { "title": "Regulation of microtubule-dependent recycling at the trans-Golgi network by Rab6A and Rab6A'.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Young J, Stauber T, del Nery E, Vernos I, Pepperkok R, Nilsson T", "evidence": [ { "database": "Reactome", "id": 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