{ "uniprot_canonical_ac": "P49755-1", "uniprot_ac": "P49755", "uniprot_id": "TMEDA_HUMAN", "mass": { "chemical_mass": 24976.0, "monoisotopic_mass": 24976.0 }, "refseq": { "ac": "NP_006818", "name": "transmembrane emp24 domain-containing protein 10 precursor", "summary": "This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006818" }, "gene_names": [ { "name": "TMED10", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P49755", "id": "P49755" }, { "name": "TMED10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006818", "id": "NP_006818" }, { "name": "TMP21", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P49755", "id": "P49755" }, { "name": "p23; P24(DELTA); p24d1; S31I125; S31III125; Tmp-21-I; TMP21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006818", "id": "NP_006818" } ], "protein_names": [ { "name": "Transmembrane emp24 domain-containing protein 10", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P49755" }, { "name": "21 kDa transmembrane trafficking protein; transmembrane emp24 domain-containing protein 10; p24delta; transmembrane protein Tmp21; p24delta1; p24 family protein delta-1; transmembrane emp24-like trafficking protein 10; testicular tissue protein Li 206", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006818", "id": "NP_006818" }, { "name": "21 kDa transmembrane-trafficking protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49755" }, { "name": "Protein TMED10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49755" }, { "name": "S31I125", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49755" }, { "name": "S31III125", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49755" }, { "name": "Tmp-21-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49755" }, { "name": "Transmembrane protein Tmp21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49755" }, { "name": "p23", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49755" }, { "name": "p24 family protein delta-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49755" }, { "name": "p24delta1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49755" }, { "name": "p24delta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49755" }, { "name": "transmembrane emp24 domain-containing protein 10 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006818", "id": "NP_006818" } ], "function": [ { "annotation": "Cargo receptor involved in protein vesicular trafficking and quality control in the endoplasmic reticulum (ER) and Golgi (PubMed:10052452, PubMed:11726511, PubMed:16641999, PubMed:17288597, PubMed:19296914, PubMed:20427317, PubMed:21219331, PubMed:27569046). The p24 protein family is a group of transmembrane proteins that bind coat protein complex I/COPI and coat protein complex II/COPII involved in vesicular trafficking between the membranes (PubMed:10052452). Acts at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and involved in vesicle coat formation at the cytoplasmic side (PubMed:20427317, PubMed:27569046). Mainly functions in the early secretory pathway and cycles between the ER, ER-Golgi intermediate compartment (ERGIC) and Golgi, mediating cargo transport through COPI and COPII-coated vesicles (PubMed:10052452, PubMed:10852829, PubMed:12237308). In COPII vesicle-mediated anterograde transport, involved in the transport of GPI-anchored proteins by acting together with TMED2 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft-like microdomains of the ER (PubMed:20427317, PubMed:27569046). Recognizes GPI anchors structural remodeled in the ER by the GPI inositol-deacylase/PGAP1 and the metallophosphoesterase MPPE1/PGAP5 (By similarity). In COPI vesicle-mediated retrograde transport, involved in the biogenesis of COPI vesicles and vesicle coat recruitment (PubMed:11726511). Involved in trafficking of amyloid beta A4 protein and soluble APP-beta release (independent from the modulation of gamma-secretase activity) (PubMed:17288597). Involved in the KDELR2-mediated retrograde transport of the toxin A subunit (CTX-A-K63)together with COPI and the COOH terminus of KDELR2 (By similarity). On Golgi membranes, acts as primary receptor for ARF1-GDP, a GTP-binding protein involved in COPI-vesicle formation (PubMed:11726511). Increases coatomer-dependent GTPase-activating activity of ARFGAP2 which mediates the hydrolysis of ARF1-bound GTP and therefore modulates protein trafficking from the Golgi apparatus (PubMed:19296914). Involved in the exocytic trafficking of G protein-coupled receptors F2LR1/PAR2 (trypsin and tryspin-like enzyme receptor), OPRM1 (opioid receptor) and P2RY4 (UTD and UDP receptor) from the Golgi to the plasma membrane, thus contributing to receptor resensitization (PubMed:21219331). In addition to its cargo receptor activity, may also act as a protein channel after oligomerization, facilitating the post-translational entry of leaderless cytoplasmic cargo into the ERGIC (PubMed:32272059). Involved in the translocation into ERGIC, the vesicle entry and the secretion of leaderless cargos (lacking the secretion signal sequence), including the mature form of interleukin 1/IL-1 family members, the alpha-crystallin B chain HSPB5, the carbohydrate-binding proteins galectin-1/LGALS1 and galectin-3/LGALS3, the microtubule-associated protein Tau/MAPT, and the annexin A1/ANXA1; the translocation process is dependent on cargo protein unfolding and enhanced by chaperones HSP90AB1 and HSP90B1/GRP9 (PubMed:32272059). Could also associates with the presenilin-dependent gamma-secretase complex in order to regulate gamma-cleavages of the amyloid beta A4 protein to yield amyloid-beta 40/Abeta40 (PubMed:16641999).", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755#function" }, { "database": "PubMed", "id": "19296914", "url": "https://glygen.org/publication/PubMed/19296914" }, { "database": "PubMed", "id": "20427317", "url": "https://glygen.org/publication/PubMed/20427317" }, { "database": "PubMed", "id": "17288597", "url": "https://glygen.org/publication/PubMed/17288597" }, { "database": "PubMed", "id": "11726511", "url": "https://glygen.org/publication/PubMed/11726511" }, { "database": "PubMed", "id": "16641999", "url": "https://glygen.org/publication/PubMed/16641999" }, { "database": "UniProtKB", "id": "Q63584", "url": "https://www.uniprot.org/uniprot/Q63584#function" }, { "database": "PubMed", "id": "21219331", "url": "https://glygen.org/publication/PubMed/21219331" }, { "database": "PubMed", "id": "12237308", "url": "https://glygen.org/publication/PubMed/12237308" }, { "database": "PubMed", "id": "32272059", "url": "https://glygen.org/publication/PubMed/32272059" }, { "database": "UniProtKB", "id": "Q28735", "url": "https://www.uniprot.org/uniprot/Q28735#function" }, { "database": "PubMed", "id": "27569046", "url": "https://glygen.org/publication/PubMed/27569046" }, { "database": "PubMed", "id": "10852829", "url": "https://glygen.org/publication/PubMed/10852829" }, { "database": "PubMed", "id": "10052452", "url": "https://glygen.org/publication/PubMed/10052452" } ] }, { "annotation": "Results indicate that transmembrane trafficking protein Tmp21(TMP21) could regulate autophagy by modulating reactive oxygen species (ROS) production and TOR serine-threonine kinases (mTOR) activation.", "evidence": [ { "database": "RefSeq", "id": "NP_006818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006818" }, { "database": "PubMed", "id": "31472964", "url": "https://glygen.org/publication/PubMed/31472964" } ] }, { "annotation": "The circular RNA CDR1as regulate cell proliferation via TMED2 and TMED10. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006818" }, { "database": "PubMed", "id": "32293333", "url": "https://glygen.org/publication/PubMed/32293333" } ] }, { "annotation": "This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006818" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 211, "end_pos": 212, "sequence_org": "FF", "sequence_mut": "AA", "comment": "Disrupts interaction with COPG1 and association with coatomer; when associated with 215-A-A-216.", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" }, { "database": "PubMed", "id": "9472029", "url": "https://glygen.org/publication/PubMed/9472029" }, { "database": "PubMed", "id": "11056392", "url": "https://glygen.org/publication/PubMed/11056392" }, { "database": "PubMed", "id": "10761932", "url": "https://glygen.org/publication/PubMed/10761932" } ] }, { "start_pos": 211, "end_pos": 212, "sequence_org": "FF", "sequence_mut": "AA", "comment": "No decrease in binding to COPG1. Disrupts interaction with SEC23A.", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" }, { "database": "PubMed", "id": "9472029", "url": "https://glygen.org/publication/PubMed/9472029" }, { "database": "PubMed", "id": "11056392", "url": "https://glygen.org/publication/PubMed/11056392" }, { "database": "PubMed", "id": "10761932", "url": "https://glygen.org/publication/PubMed/10761932" } ] }, { "start_pos": 215, "end_pos": 216, "sequence_org": "KK", "sequence_mut": "AA", "comment": "Disrupts interaction with COPG1 and association with coatomer; when associated with 211-A-A-212.", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" }, { "database": "PubMed", "id": "9472029", "url": "https://glygen.org/publication/PubMed/9472029" }, { "database": "PubMed", "id": "11056392", "url": "https://glygen.org/publication/PubMed/11056392" }, { "database": "PubMed", "id": "10761932", "url": "https://glygen.org/publication/PubMed/10761932" } ] }, { "start_pos": 215, "end_pos": 216, "sequence_org": "KK", "sequence_mut": "AA", "comment": "Significant reduction in binding to COPG1.", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" }, { "database": "PubMed", "id": "9472029", "url": "https://glygen.org/publication/PubMed/9472029" }, { "database": "PubMed", "id": "11056392", "url": "https://glygen.org/publication/PubMed/11056392" }, { "database": "PubMed", "id": "10761932", "url": "https://glygen.org/publication/PubMed/10761932" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "97.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "96.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "96.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "97.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170348", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170348" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P49755", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P49755" } ], "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", 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"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, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P49755", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P49755" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, 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"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": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"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": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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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 in 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P49755", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P49755" } ], "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/P49755" } ], "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": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22811:SF183", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01105", "url": "http://pfam.xfam.org/family/PF01105", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P49755", "url": "https://pharos.nih.gov/targets/P49755", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000056588", "url": "https://proconsortium.org/app/entry/PR:000056588", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P49755", "url": "http://purl.obolibrary.org/obo/PR_P49755", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_006818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006818", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P49755", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "G3V2K7", "url": "https://www.uniprot.org/uniprot/G3V2K7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2K7-1", "url": "https://www.uniprot.org/uniprot/G3V2K7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P49755-1", "url": "https://www.uniprot.org/uniprot/P49755-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSGLSGPPARRGPFPLALLLLFLLGPRLVLAISFHLPINSRKCLREEIHKDLLVTGAYEISDQSGGAGGLRSHLKITDSAGHILYSKEDATKGKFAFTTEDYDMFEVCFESKGTGRIPDQLVILDMKHGVEAKNYEEIAKVEKLKPLEVELRRLEDLSESIVNDFAYMKKREEEMRDTNESTNTRVLYFSIFSMFCLIGLATWQVFYLRRFFKAKKLIE", "length": 219, "header": "sp|P49755-1|TMEDA_HUMAN Isoform 1 of Transmembrane emp24 domain-containing protein 10 OS=Homo sapiens OX=9606 GN=TMED10 PE=1 SV=2 CANONICAL=P49755-1" }, "isoforms": [ { "isoform_ac": "G3V2K7-1", "url": "", "sequence": { "sequence": "MSGLSGPPARRGPFPLALLLLFLLGPRLVLAISFHLPINSRKCLREEIHKDLLVTGAYEISDQSGGAGGLRSHLKITDSAGHILYSKEDATKGKFAFTTEDYDMFEVCFESKGTGRIPDQLVILDMKHGVEAKNYEEHSVSEEKVWKDNTSSL", "length": 153, "header": "tr|G3V2K7-1|G3V2K7_HUMAN Computationally mapped isoform of Transmembrane p24 trafficking protein 10 OS=Homo sapiens OX=9606 GN=TMED10 PE=1 SV=1 CANONICAL=P49755-1" }, "locus": { "chromosome": "14", "start_pos": 75176579, "end_pos": 75139124, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555873.1", "url": "https://www.ensembl.org/id/ENST00000555873.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450726.1", "url": "https://www.ensembl.org/id/ENSP00000450726.1" } ] } }, { "isoform_ac": "P49755-1", "url": "", "sequence": { "sequence": "MSGLSGPPARRGPFPLALLLLFLLGPRLVLAISFHLPINSRKCLREEIHKDLLVTGAYEISDQSGGAGGLRSHLKITDSAGHILYSKEDATKGKFAFTTEDYDMFEVCFESKGTGRIPDQLVILDMKHGVEAKNYEEIAKVEKLKPLEVELRRLEDLSESIVNDFAYMKKREEEMRDTNESTNTRVLYFSIFSMFCLIGLATWQVFYLRRFFKAKKLIE", "length": 219, "header": "sp|P49755-1|TMEDA_HUMAN Isoform 1 of Transmembrane emp24 domain-containing protein 10 OS=Homo sapiens OX=9606 GN=TMED10 PE=1 SV=2 CANONICAL=P49755-1" }, "locus": { "chromosome": "14", "start_pos": 75176579, "end_pos": 75134888, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000303575.9", "url": "https://www.ensembl.org/id/ENST00000303575.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000303145.4", "url": "https://www.ensembl.org/id/ENSP00000303145.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "P49755", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49755#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "REEIHKDLLVTGAY", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 45, "start_aa": "Arg", "end_pos": 58, "end_aa": "Tyr", "evidence": [ { "id": "P49755", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 55, "start_aa": "Thr", "end_pos": 55, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr55", "evidence": [ { "id": "P49755", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 55, "start_aa": "Thr", "end_pos": 55, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr55", "evidence": [ { "id": "P49755", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P49755" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 55, "start_aa": "Thr", "end_pos": 55, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr55", "evidence": [ { "id": "P49755", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 77, "start_aa": "Thr", "end_pos": 77, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr77", "evidence": [ { "id": "P49755", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 86, "start_aa": "Ser", "end_pos": 86, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser86", "evidence": [ { "id": "P49755", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 91, "start_aa": "Thr", "end_pos": 91, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr91", "evidence": [ { "id": "P49755", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P49755", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P49755" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen .H", "evidence": [ { "database": "UniCarbKB", "id": "P49755", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Coupling of coat assembly and vesicle budding to packaging of putative cargo receptors.", "journal": "Cell", "date": "1999", "authors": "Bremser M, Nickel W, Schweikert M, Ravazzola M, Amherdt M, Hughes CA, Sollner TH, Rothman JE, Wieland FT", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" 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Biol. Cell", "date": "1999", "authors": "Fullekrug J, Suganuma T, Tang BL, Hong W, Storrie B, Nilsson T", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "reference": [ { "type": "PubMed", "id": "10359607", "url": "https://glygen.org/publication/PubMed/10359607" } ] }, { "title": "A comparative study of rat and human Tmp21 (p23) reveals the pseudogene-like features of human Tmp21-II.", "journal": "DNA Seq.", "date": "1999", "authors": "Horer J, Blum R, Feick P, Nastainczyk W, Schulz I", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "reference": [ { "type": "PubMed", "id": "10376215", "url": "https://glygen.org/publication/PubMed/10376215" } ] }, { "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-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10445031", "url": "https://glygen.org/publication/PubMed/10445031" } ] }, { "title": "The lectin ERGIC-53 is a cargo transport receptor for glycoproteins.", "journal": "Nature cell biology", "date": "1999", "authors": "Appenzeller C, Andersson H, Kappeler F, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "10559958", "url": "https://glygen.org/publication/PubMed/10559958" } ] }, { "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-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "ERGIC-53 and traffic in the secretory pathway.", "journal": "Journal of cell science", "date": "2000", "authors": "Hauri HP, Kappeler F, Andersson H, Appenzeller C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "10652252", "url": "https://glygen.org/publication/PubMed/10652252" } ] }, { "title": "The role of the tethering proteins p115 and GM130 in transport through the Golgi apparatus in vivo.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Seemann J, Jokitalo EJ, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10679020", "url": "https://glygen.org/publication/PubMed/10679020" } ] }, { "title": "Asymmetric requirements for a Rab GTPase and SNARE proteins in fusion of COPII vesicles with acceptor membranes.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Cao X, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10747087", "url": "https://glygen.org/publication/PubMed/10747087" } ] }, { "title": "Decoding of sorting signals by coatomer through a GTPase switch in the COPI coat complex.", "journal": "Cell", "date": "2000", "authors": "Goldberg J", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" }, { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10761932", "url": "https://glygen.org/publication/PubMed/10761932" } ] }, { "title": "COPI-coated ER-to-Golgi transport complexes segregate from COPII in close proximity to ER exit sites.", "journal": "Journal of cell science", "date": "2000", "authors": "Stephens DJ, Lin-Marq N, Pagano A, Pepperkok R, Paccaud JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10825291", "url": "https://glygen.org/publication/PubMed/10825291" } ] }, { "title": "Coupled transport of p24 family members.", "journal": "J. 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Cell Biol.", "date": "1997", "authors": "Stang E., Pepperkok R., Gruenberg J., Kellner R., Parton R.G., Rojo M., Emery G.", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "reference": [ { "type": "PubMed", "id": "9382861", "url": "https://glygen.org/publication/PubMed/9382861" } ] }, { "title": "The mammalian protein (rbet1) homologous to yeast Bet1p is primarily associated with the pre-Golgi intermediate compartment and is involved in vesicular transport from the endoplasmic reticulum to the Golgi apparatus.", "journal": "The Journal of cell biology", "date": "1997", "authors": "Zhang T, Wong SH, Tang BL, Xu Y, Peter F, Subramaniam VN, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "9382863", "url": "https://glygen.org/publication/PubMed/9382863" } ] }, { "title": "The recycling of ERGIC-53 in the early secretory pathway. 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"UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "COPII-coated ER to Golgi transport vesicle", "id": "GO:0030134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030134", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "secretory granule membrane", "id": "GO:0030667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030667", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "ER to Golgi transport vesicle membrane", "id": "GO:0012507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012507", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "COPI-coated vesicle", "id": "GO:0030137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030137", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "cis-Golgi network", "id": "GO:0005801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005801", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "gamma-secretase complex", "id": "GO:0070765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070765", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "trans-Golgi network transport vesicle", "id": "GO:0030140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030140", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "zymogen granule membrane", "id": "GO:0042589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042589", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" }, { "name": "protein transmembrane transporter activity", "id": "GO:0008320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008320", "evidence": [ { "database": "UniProtKB", "id": "P49755", "url": "https://www.uniprot.org/uniprot/P49755" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "transmembrane emp24 domain-containing protein 10 O-glycosylated 1 (human)", "definition": "A transmembrane emp24 domain-containing protein 10 (human) that has been O-glycosylated at the residue equivalent to Thr-55 of the amino acid sequence represented by UniProtKB:P49755-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P49755-1, Thr-55, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056588", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000056588" } ] } ], "site_annotation": [ { "start_pos": 179, "end_pos": 181, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 201 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }