{ "uniprot_canonical_ac": "O95721-1", "uniprot_ac": "O95721", "uniprot_id": "SNP29_HUMAN", "mass": { "chemical_mass": 28970.0, "monoisotopic_mass": 28970.0 }, "refseq": { "ac": "NP_004773", "name": "synaptosomal-associated protein 29", "summary": "This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773" }, "gene_names": [ { "name": "SNAP29", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95721", "id": "O95721" }, { "name": "CEDNIK; SNAP-29", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773", "id": "NP_004773" }, { "name": "SNAP29", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773", "id": "NP_004773" } ], "protein_names": [ { "name": "Synaptosomal-associated protein 29", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95721" }, { "name": "SNAP-29", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95721" }, { "name": "Soluble 29 kDa NSF attachment protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95721" }, { "name": "Vesicle-membrane fusion protein SNAP-29", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95721" }, { "name": "synaptosomal-associated protein 29", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773", "id": "NP_004773" }, { "name": "vesicle-membrane fusion protein SNAP-29; soluble 29 kDa NSF attachment protein; synaptosome associated protein 29kDa; synaptosomal-associated protein, 29kD; synaptosomal-associated protein, 29kDa; cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773", "id": "NP_004773" } ], "function": [ { "annotation": "Alpha-Synuclein defects autophagy by impairing SNAP29-mediated autophagosome-lysosome fusion. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773" }, { "database": "PubMed", "id": "34535638", "url": "https://glygen.org/publication/PubMed/34535638" } ] }, { "annotation": "Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773" }, { "database": "PubMed", "id": "34069872", "url": "https://glygen.org/publication/PubMed/34069872" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Erratum:[Mol Psychiatry 2001 Sep;6(5):605]", "evidence": [ { "database": "RefSeq", "id": "NP_004773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773" }, { "database": "PubMed", "id": "11317222", "url": "https://glygen.org/publication/PubMed/11317222" } ] }, { "annotation": "SNARE-binding protein synaptosomal-associated protein of 29 kDa (SNAP29) regulates the intracellular sequestration of glucose transporter 4 (GLUT4) vesicles in adipocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_004773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773" }, { "database": "PubMed", "id": "36181414", "url": "https://glygen.org/publication/PubMed/36181414" } ] }, { "annotation": "SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Also plays a role in ciliogenesis by regulating membrane fusions.", "evidence": [ { "database": "UniProtKB", "id": "C9JAF7", "url": "https://www.uniprot.org/uniprot/C9JAF7#function" }, { "database": "UniProtKB", "id": "ARBA00037064", "url": "https://www.uniprot.org/uniprot/ARBA00037064#function" }, { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721#function" }, { "database": "PubMed", "id": "23217709", "url": "https://glygen.org/publication/PubMed/23217709" }, { "database": "PubMed", "id": "25686604", "url": "https://glygen.org/publication/PubMed/25686604" }, { "database": "PubMed", "id": "25686250", "url": "https://glygen.org/publication/PubMed/25686250" } ] }, { "annotation": "Snapshots from within the cell: Novel trafficking and non trafficking functions of Snap29 during tissue morphogenesis. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_004773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773" }, { "database": "PubMed", "id": "35256275", "url": "https://glygen.org/publication/PubMed/35256275" } ] }, { "annotation": "This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773" } ] } ], "disease": [ { "disease_id": "DOID:0060337", "recommended_name": { "id": "DOID:0060337", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060337", "name": "CEDNIK syndrome", "description": "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis." }, "synonyms": [ { "id": "DOID:0060337", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060337", "name": "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome", "description": "" }, { "id": "MONDO:0012290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012290", "name": "CEDNIK syndrome", "description": "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." }, { "id": "MONDO:0012290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012290", "name": "CEDNIK syndrome", "description": "" }, { "id": "MONDO:0012290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012290", "name": "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome", "description": "" }, { "id": "MONDO:0012290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012290", "name": "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome", "description": "" }, { "id": "MONDO:0012290", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012290", "name": "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome", "description": "" }, { "id": "MIM:609528", "resource": "MIM", "url": "https://www.omim.org/entry/609528", "name": "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome", "description": "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" } ], "evidence": [ { "id": "609528", "database": "MIM", "url": "https://www.omim.org/entry/609528" } ] } ], "snv": [ { "evidence": [ { "id": "rs1204995126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204995126" }, { "id": "rs1204995126", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1204995126#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 109, "end_pos": 109, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (INS->NNS).", "chr_id": "22", "chr_pos": "20883555", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1342586367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342586367" }, { "id": "rs1342586367", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342586367" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 153, "end_pos": 153, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "22", "chr_pos": "20881072", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1007677324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1007677324" }, { "id": "rs1007677324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1007677324#frequency_tab" }, { "id": "rs1007677324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1007677324" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 171, "end_pos": 171, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "22", "chr_pos": "20881125", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1204995126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204995126" }, { "id": "rs1204995126", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1204995126#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 202, "end_pos": 202, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IDS->NDS).", "chr_id": "22", "chr_pos": "20883555", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746487523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746487523" }, { "id": "rs746487523", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746487523" }, { "id": "rs746487523", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746487523" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2, "end_pos": 2, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->*).", "chr_id": "22", "chr_pos": "20859115", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "80.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95721", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95721" } ], "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": 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"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, 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"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", 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"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", 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95721", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95721" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95721" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" } ], "common_name": "Human" } ], "gene": [ { "name": "SNAP29", "url": "https://www.uniprot.org/uniprot/O95721", "locus": { "chromosome": "22", "start_pos": 20891214, "end_pos": 20859007, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000099940", "url": "https://www.ensembl.org/id/ENSG00000099940" } ] } } ], "crossref": [ { "id": "ENSG00000099940", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099940", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd15856", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15856", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd15887", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15887", "database": 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"http://www.omim.org/entry/604202", "database": "MIM", "categories": [ "Other" ] }, { "id": "609528", "url": "http://www.omim.org/entry/609528", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95721", "url": "https://www.nextprot.org/entry/NX_O95721", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95721", "url": "https://oglcnac.org/atlas/detail/O95721", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O95721", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95721", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "NLDEMCD", "url": "https://omabrowser.org/oma/group/NLDEMCD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4213488at2759", "url": "http://www.orthodb.org/?query=4213488at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR19305", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19305", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR19305:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19305:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4WY4", "url": "https://www.rcsb.org/structure/4WY4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7BV6", "url": "https://www.rcsb.org/structure/7BV6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "O95721", "url": "https://pharos.nih.gov/targets/O95721", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95721", "url": "http://purl.obolibrary.org/obo/PR_O95721", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9JAF7", "url": "https://www.uniprot.org/uniprot/C9JAF7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JAF7-1", "url": "https://www.uniprot.org/uniprot/C9JAF7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95721-1", "url": "https://www.uniprot.org/uniprot/O95721-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAASTSRSLALMYESEKVGVASSEELARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLVNYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKYQASHPNLRKLDDTDPVPRGAGSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQTEIEEQDDILDRLTTKVDKLDVNIKSTERKVRQL", "length": 258, "header": "sp|O95721-1|SNP29_HUMAN Isoform 1 of Synaptosomal-associated protein 29 OS=Homo sapiens OX=9606 GN=SNAP29 PE=1 SV=1 CANONICAL=O95721-1" }, "isoforms": [ { "isoform_ac": "C9JAF7-1", "url": "", "sequence": { "sequence": "MVDKMDQDLKISQKHINSIKSVFGGLVNYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKYQASHPNLRKLDDTDPVPRGAGSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQTEIEEQDDILDRLTTKVDKLDVNIKSTER", "length": 160, "header": "tr|C9JAF7-1|SNP29_HUMAN Computationally mapped isoform of Synaptosomal-associated protein 29 OS=Homo sapiens OX=9606 GN=SNAP29 PE=1 SV=1 CANONICAL=O95721-1" }, "locus": { "chromosome": "22", "start_pos": 20887818, "end_pos": 20870379, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439214.1", "url": "https://www.ensembl.org/id/ENST00000439214.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000411095.1", "url": "https://www.ensembl.org/id/ENSP00000411095.1" } ] } }, { "isoform_ac": "O95721-1", "url": "", "sequence": { "sequence": "MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAASTSRSLALMYESEKVGVASSEELARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLVNYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKYQASHPNLRKLDDTDPVPRGAGSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQTEIEEQDDILDRLTTKVDKLDVNIKSTERKVRQL", "length": 258, "header": "sp|O95721-1|SNP29_HUMAN Isoform 1 of Synaptosomal-associated protein 29 OS=Homo sapiens OX=9606 GN=SNAP29 PE=1 SV=1 CANONICAL=O95721-1" }, "locus": { "chromosome": "22", "start_pos": 20887833, "end_pos": 20859111, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000215730.12", "url": "https://www.ensembl.org/id/ENST00000215730.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000215730.6", "url": "https://www.ensembl.org/id/ENSP00000215730.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 130, "start_aa": "Thr", "end_pos": 130, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr130", "evidence": [ { "id": "O95721", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95721" }, { "id": "29507186", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29507186" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "25419848", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25419848" }, { "id": "28691313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28691313" }, { "id": "O95721", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95721" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 153, "start_aa": "Ser", "end_pos": 153, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser153", "evidence": [ { "id": "O95721", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95721" }, { "id": "29507186", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29507186" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "25419848", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25419848" }, { "id": "28691313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28691313" }, { "id": "O95721", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95721" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2, "start_aa": "Ser", "end_pos": 2, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2", "evidence": [ { "id": "O95721", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95721" }, { "id": "29507186", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29507186" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "25419848", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25419848" }, { "id": "28691313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28691313" }, { "id": "O95721", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95721" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 61, "start_aa": "Ser", "end_pos": 61, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser61", "evidence": [ { "id": "O95721", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95721" }, { "id": "29507186", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29507186" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "25419848", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25419848" }, { "id": "28691313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28691313" }, { "id": "O95721", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95721" } ] } ], "phosphorylation": [ { "start_pos": 105, "end_pos": 105, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" }, { "database": "PubMed", "id": "29454964", "url": "https://glygen.org/publication/PubMed/29454964" } ], "site_lbl": "Ser105" }, { "start_pos": 114, "end_pos": 114, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" } ], "site_lbl": "Ser114" }, { "start_pos": 130, "end_pos": 130, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" } ], "site_lbl": "Thr130" }, { "start_pos": 137, "end_pos": 137, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" } ], "site_lbl": "Thr137" }, { "start_pos": 163, "end_pos": 163, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser163" }, { "start_pos": 182, "end_pos": 182, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" } ], "site_lbl": "Ser182" }, { "start_pos": 185, "end_pos": 185, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" } ], "site_lbl": "Ser185" }, { "start_pos": 204, "end_pos": 204, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" } ], "site_lbl": "Ser204" }, { "start_pos": 210, "end_pos": 210, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" } ], "site_lbl": "Ser210" }, { "start_pos": 63, "end_pos": 63, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser63" }, { "start_pos": 68, "end_pos": 68, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr68" }, { "start_pos": 77, "end_pos": 77, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" } ], "site_lbl": "Ser77" }, { "start_pos": 78, "end_pos": 78, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95721", "url": "https://www.uniprot.org/uniprot/O95721" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95721" } ], "site_lbl": "Ser78" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "GMAP-210, A cis-Golgi network-associated protein, is a minus end microtubule-binding protein.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Infante C, Ramos-Morales F, Fedriani C, Bornens M, Rios RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438" } ], "reference": [ { "type": "PubMed", "id": "10189370", "url": "https://glygen.org/publication/PubMed/10189370" } ] }, { "title": "Similarities in function and gene structure of cytohesin-4 and cytohesin-1, guanine nucleotide-exchange proteins for ADP-ribosylation factors.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ogasawara M, Kim SC, Adamik R, Togawa A, Ferrans VJ, Takeda K, Kirby M, Moss J, Vaughan M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811438" } ], "reference": [ { "type": "PubMed", "id": "10652308", "url": "https://glygen.org/publication/PubMed/10652308" } ] }, { "title": "Turning on ARF: the Sec7 family of guanine-nucleotide-exchange factors.", "journal": "Trends in cell biology", "date": "2000", "authors": "Jackson CL, Casanova JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811438", "url": 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