{ "uniprot_canonical_ac": "O75970-1", "uniprot_ac": "O75970", "uniprot_id": "MPDZ_HUMAN", "mass": { "chemical_mass": 221618.0, "monoisotopic_mass": 221618.0 }, "refseq": { "ac": "NP_001248335", "name": "multiple PDZ domain protein isoform 2", "summary": "The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" }, "gene_names": [ { "name": "MPDZ", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75970", "id": "O75970" }, { "name": "HYC2; MUPP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335", "id": "NP_001248335" }, { "name": "MPDZ", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335", "id": "NP_001248335" }, { "name": "MUPP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75970", "id": "O75970" } ], "protein_names": [ { "name": "Multiple PDZ domain protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75970" }, { "name": "Multi-PDZ domain protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75970" }, { "name": "multi-PDZ domain protein 1; multiple PDZ domain protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335", "id": "NP_001248335" }, { "name": "multiple PDZ domain protein isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335", "id": "NP_001248335" } ], "function": [ { "annotation": "ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" }, { "database": "PubMed", "id": "34135477", "url": "https://glygen.org/publication/PubMed/34135477" } ] }, { "annotation": "Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" }, { "database": "PubMed", "id": "35305607", "url": "https://glygen.org/publication/PubMed/35305607" } ] }, { "annotation": "MPDZ as a novel epigenetic silenced tumor suppressor inhibits growth and progression of lung cancer through the Hippo-YAP pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" }, { "database": "PubMed", "id": "34108620", "url": "https://glygen.org/publication/PubMed/34108620" } ] }, { "annotation": "MPDZ is associated with immune infiltration and regulates migration and invasion by switching YAP1 phosphorylation in colorectal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" }, { "database": "PubMed", "id": "37949382", "url": "https://glygen.org/publication/PubMed/37949382" } ] }, { "annotation": "Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses (PubMed:11150294, PubMed:15312654). Promotes clustering of HT2RC at the cell surface (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970#function" }, { "database": "UniProtKB", "id": "O55164", "url": "https://www.uniprot.org/uniprot/O55164#function" }, { "database": "PubMed", "id": "15312654", "url": "https://glygen.org/publication/PubMed/15312654" }, { "database": "PubMed", "id": "11150294", "url": "https://glygen.org/publication/PubMed/11150294" } ] }, { "annotation": "Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" }, { "database": "PubMed", "id": "36594712", "url": "https://glygen.org/publication/PubMed/36594712" } ] }, { "annotation": "The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" } ] } ], "disease": [ { "disease_id": "DOID:10908", "recommended_name": { "id": "DOID:10908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head." }, "synonyms": [ { "id": "DOID:10908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10908", "name": "hydrocephalus, X-linked", "description": "" }, { "id": "DOID:10908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10908", "name": "hydrocephalus, nonsyndromic, autosomal recessive", "description": "" }, { "id": "MONDO:0007401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007401", "name": "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome", "description": "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant." }, { "id": "MONDO:0007401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007401", "name": "Braddock-Jones-Superneau syndrome", "description": "" }, { "id": "MONDO:0007401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007401", "name": "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome", "description": "" }, { "id": "MONDO:0007401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007401", "name": "Braddock Jones Superneau syndrome", "description": "" }, { "id": "MONDO:0007401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007401", "name": "Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus", "description": "" }, { "id": "MONDO:0007401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007401", "name": "HDCPH1", "description": "" }, { "id": "MONDO:0007401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007401", "name": "hydrocephalus, autosomal dominant", "description": "" }, { "id": "MONDO:0007401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007401", "name": "sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus", "description": "" }, { "id": "MONDO:0009360", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009360", "name": "hydrocephalus, nonsyndromic, autosomal recessive 1", "description": "Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene." }, { "id": "MONDO:0009360", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009360", "name": "CCDC88C congenital hydrocephalus", "description": "" }, { "id": "MONDO:0009360", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009360", "name": "congenital hydrocephalus caused by mutation in CCDC88C", "description": "" }, { "id": "MONDO:0009360", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009360", "name": "hydrocephalus, congenital, 1", "description": "" }, { "id": "MONDO:0009360", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009360", "name": "hydrocephalus, nonsyndromic, autosomal recessive 1", "description": "" }, { "id": "MONDO:0009360", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009360", "name": "hydrocephalus, nonsyndromic, autosomal recessive type 1", "description": "" }, { "id": "MONDO:0009360", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009360", "name": "HYC1", "description": "" }, { "id": "MONDO:0009360", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009360", "name": "hydrocephaly", "description": "" }, { "id": "MONDO:0009360", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009360", "name": "ventriculomegaly", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius", "description": "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "Bickers-Adams syndrome", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "HSAS", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "X-linked HSAS", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "X-linked acqueductal stenosis", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "X-linked hydrocephalus", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "X-linked hydrocephalus with stenosis of aqueduct of Sylvius", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "hydrocephalus due to aqueductal stenosis, X-linked recessive", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "hydrocephalus with hirschsprung disease, X-linked recessive", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "hydrocephalus with stenosis of the aqueduct of Sylvius", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "HSAS1", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "HYCX", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "XLAS", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "aqueductal stenosis, X-linked", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "hydrocephalus due to congenital stenosis of aqueduct of Sylvius", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "hydrocephalus, X-linked", "description": "" }, { "id": "MONDO:0010611", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010611", "name": "hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction", "description": "" }, { "id": "MONDO:0009361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009361", "name": "autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius", "description": "" }, { "id": "MONDO:0009361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009361", "name": "hydrocephalus due to congenital stenosis of aqueduct of Sylvius", "description": "" }, { "id": "MONDO:0009361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009361", "name": "aqueductal stenosis", "description": "" }, { "id": "MONDO:0014085", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014085", "name": "hydrocephalus, nonsyndromic, autosomal recessive 2", "description": "Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene." }, { "id": "MONDO:0014085", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014085", "name": "MPDZ congenital hydrocephalus", "description": "" }, { "id": "MONDO:0014085", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014085", "name": "congenital hydrocephalus caused by mutation in MPDZ", "description": "" }, { "id": "MONDO:0014085", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014085", "name": "hydrocephalus, congenital, 2, with or without brain or eye anomalies", "description": "" }, { "id": "MONDO:0014085", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014085", "name": "hydrocephalus, nonsyndromic, autosomal recessive 2", "description": "" }, { "id": "MONDO:0014085", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014085", "name": "hydrocephalus, nonsyndromic, autosomal recessive type 2", "description": "" }, { "id": "MONDO:0014085", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014085", "name": "HYC2", "description": "" }, { "id": "MIM:236600", "resource": "MIM", "url": "https://www.omim.org/entry/236600", "name": "Hydrocephalus, congenital, 1", "description": "Hydrocephalus, congenital, 1" }, { "id": "MIM:307000", "resource": "MIM", "url": "https://www.omim.org/entry/307000", "name": "Hydrocephalus, congenital, X-linked", "description": "Hydrocephalus, congenital, X-linked" }, { "id": "MIM:615219", "resource": "MIM", "url": "https://www.omim.org/entry/615219", "name": "Hydrocephalus, congenital, 2, with or without brain or eye anomalies", "description": "Hydrocephalus, congenital, 2, with or without brain or eye anomalies" } ], "evidence": [ { "id": "615219", "database": "MIM", "url": "https://www.omim.org/entry/615219" } ] } ], "snv": [ { "evidence": [ { "id": "O75970", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75970" } ], "glycoeffect": [], "start_pos": 1781, "end_pos": 1781, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "13119540", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1781", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { 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"DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant 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"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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75970", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75970" } ], "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", 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"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": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75970", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75970" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "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": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75970", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75970" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"categories": [ "Protein" ] }, { "id": "A0A075B6R8", "url": "https://www.uniprot.org/uniprot/A0A075B6R8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A075B6R8-1", "url": "https://www.uniprot.org/uniprot/A0A075B6R8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7ZB24", "url": "https://www.uniprot.org/uniprot/B7ZB24", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7ZB24-1", "url": "https://www.uniprot.org/uniprot/B7ZB24-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H1U9", "url": "https://www.uniprot.org/uniprot/F5H1U9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H1U9-1", "url": "https://www.uniprot.org/uniprot/F5H1U9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H8D6", "url": "https://www.uniprot.org/uniprot/F5H8D6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H8D6-1", "url": "https://www.uniprot.org/uniprot/F5H8D6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDQ8", "url": "https://www.uniprot.org/uniprot/F8WDQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDQ8-1", "url": "https://www.uniprot.org/uniprot/F8WDQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YF96", "url": "https://www.uniprot.org/uniprot/H0YF96", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YF96-1", "url": "https://www.uniprot.org/uniprot/H0YF96-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFZ6", "url": "https://www.uniprot.org/uniprot/H0YFZ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFZ6-1", "url": "https://www.uniprot.org/uniprot/H0YFZ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGQ3", "url": "https://www.uniprot.org/uniprot/H0YGQ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGQ3-1", "url": "https://www.uniprot.org/uniprot/H0YGQ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH70", "url": "https://www.uniprot.org/uniprot/H0YH70", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH70-1", "url": "https://www.uniprot.org/uniprot/H0YH70-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BM19", "url": "https://www.uniprot.org/uniprot/H3BM19", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BM19-1", "url": "https://www.uniprot.org/uniprot/H3BM19-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75970-1", "url": "https://www.uniprot.org/uniprot/O75970-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75970-2", "url": "https://www.uniprot.org/uniprot/O75970-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75970-3", "url": "https://www.uniprot.org/uniprot/O75970-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75970-5", "url": "https://www.uniprot.org/uniprot/O75970-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLEAIDKNRALHAAERLQTKLRERGDVANEDKLSLLKSVLQSPLFSQILSLQTSVQQLKDQVNIATSATSNIEYAHVPHLSPAVIPTLQNESFLLSPNNGNLEALTGPGIPHINGKPACDEFDQLIKNMAQGRHVEVFELLKPPSGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQALDQTITHQQAISILQKAKDTVQLVIARGSLPQLVSPIVSRSPSAASTISAHSNPVHWQHMETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGDHILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAIEERTAPTALGITLSSSPTSTPELRVDASTQKGEESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDGRIQIGDQIIAVDGTNLQGFTNQQAVEVLRHTGQTVLLTLMRRGMKQEAELMSREDVTKDADLSPVNASIIKENYEKDEDFLSSTRNTNILPTEEEGYPLLSAEIEEIEDAQKQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELLEVNGITLLGENHQDVVNILKELPIEVTMVCCRRTVPPTTQSELDSLDLCDIELTEKPHVDLGEFIGSSETEDPVLAMTDAGQSTEEVQAPLAMWEAGIQHIELEKGSKGLGFSILDYQDPIDPASTVIIIRSLVPGGIAEKDGRLLPGDRLMFVNDVNLENSSLEEAVEALKGAPSGTVRIGVAKPLPLSPEEGYVSAKEDSFLYPPHSCEEAGLADKPLFRADLALVGTNDADLVDESTFESPYSPENDSIYSTQASILSLHGSSCGDGLNYGSSLPSSPPKDVIENSCDPVLDLHMSLEELYTQNLLQRQDENTPSVDISMGPASGFTINDYTPANAIEQQYECENTIVWTESHLPSEVISSAELPSVLPDSAGKGSEYLLEQSSLACNAECVMLQNVSKESFERTINIAKGNSSLGMTVSANKDGLGMIVRSIIHGGAISRDGRIAIGDCILSINEESTISVTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRKSPLPSLLHNLYPKYNFSSTNPFADSLQINADKAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVTLEVGRIKAGPFHSERRPSQSSQVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 2070, "header": "sp|O75970-1|MPDZ_HUMAN Isoform 1 of Multiple PDZ domain protein OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=2 CANONICAL=O75970-1" }, "isoforms": [ { "isoform_ac": "A0A075B6R8-1", "url": "", "sequence": { "sequence": "NKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVTLEVGRIKAGPFHSERRPSQSSQVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 611, "header": "tr|A0A075B6R8-1|MPDZ_HUMAN Computationally mapped isoform of Multiple PDZ domain protein OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=1 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13136181, "end_pos": 13106968, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438511.5", "url": "https://www.ensembl.org/id/ENST00000438511.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415964.1", "url": "https://www.ensembl.org/id/ENSP00000415964.1" } ] } }, { "isoform_ac": "B7ZB24-1", "url": "", "sequence": { "sequence": "MALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVTLEVGRIKAGPFHSERRPSQSSQVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 929, "header": "tr|B7ZB24-1|B7ZB24_HUMAN Computationally mapped isoform of cDNA, FLJ79388, highly similar to Multiple PDZ domain protein OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=1 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13162725, "end_pos": 13106968, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538841.5", "url": "https://www.ensembl.org/id/ENST00000538841.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444717.1", "url": "https://www.ensembl.org/id/ENSP00000444717.1" } ] } }, { "isoform_ac": "F5H1U9-1", "url": "", "sequence": { "sequence": "MLEAIDKNRALHAAERLQTKLRERGDVANEDKLSLLKSVLQSPLFSQILSLQTSVQQLKDQVNIATSATSNIEYAHVPHLSPAVIPTLQNESFLLSPNNGNLEALTGPGIPHINGKPACDEFDQLIKNMAQGRHVEVFELLKPPSGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQALDQTITHQQAISILQKAKDTVQLVIARGSLPQLVSPIVSRSPSAASTISAHSNPVHWQHMETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGDHILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAIEERTAPTALGITLSSSPTSTPELRVDASTQKGEESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDGRIQIGDQIIAVDGTNLQGFTNQQAVEVLRHTGQTVLLTLMRRGMKQEAELMSREDVTKDADLSPVNASIIKENYEKDEDFLSSTRNTNILPTEEEGYPLLSAEIEEIEDAQKQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELLEVNGITLLGENHQDVVNILKELPIEVTMVCCRRTVPPTTQSELDSLDLCDIELTEKPHVDLGEFIGSSETEDPVLAMTDAGQSTEEVQAPLAMWEAGIQHIELEKGSKGLGFSILDYQDPIDPASTVIIIRSLVPGGIAEKDGRLLPGDRLMFVNDVNLENSSLEEAVEALKGAPSGTVRIGVAKPLPLSPEEGYVSAKEDSFLYPPHSCEEAGLADKPLFRADLALVGTNDADLVDESTFESPYSPENDSIYSTQASILSLHGSSCGDGLNYGSSLPSSPPKDVIENSCDPVLDLHMSLEELYTQNLLQRQDENTPSVDISMGPASGFTINDYTPANAIEQQYECENTIVWTESHLPSEVISSAELPSVLPDSAGKGSEYLLEQSSLACNAECVMLQNVSKESFERTINIAKGNSSLGMTVSANKDGLGMIVRSIIHGGAISRDGRIAIGDCILSINEESTISVTNAQARAMLRRHSLIGPDIKFSAAPADDRAPFYVITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRKSPLPSLLHNLYPKYNFSSTNPFADSLQINADKAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVTLEVGRIKAGPFHSERRPSQSSQVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 2084, "header": "tr|F5H1U9-1|F5H1U9_HUMAN Computationally mapped isoform of Multiple PDZ domain crumbs cell polarity complex component OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=1 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13250315, "end_pos": 13106968, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546205.5", "url": "https://www.ensembl.org/id/ENST00000546205.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446358.1", "url": "https://www.ensembl.org/id/ENSP00000446358.1" } ] } }, { "isoform_ac": "F5H8D6-1", "url": "", "sequence": { "sequence": "MALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEKSPLPSLLHNLYPKYNFSSTNPFADS", "length": 128, "header": "tr|F5H8D6-1|F5H8D6_HUMAN Computationally mapped isoform of Multiple PDZ domain crumbs cell polarity complex component OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=8 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13162725, "end_pos": 13143487, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542239.1", "url": "https://www.ensembl.org/id/ENST00000542239.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000443672.1", "url": "https://www.ensembl.org/id/ENSP00000443672.1" } ] } }, { "isoform_ac": "F8WDQ8-1", "url": "", "sequence": { "sequence": "MALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKD", "length": 191, "header": "tr|F8WDQ8-1|MPDZ_HUMAN Computationally mapped isoform of Multiple PDZ domain protein OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=8 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13162725, "end_pos": 13138050, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433359.6", "url": "https://www.ensembl.org/id/ENST00000433359.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000389705.2", "url": "https://www.ensembl.org/id/ENSP00000389705.2" } ] } }, { "isoform_ac": "H0YF96-1", "url": "", "sequence": { "sequence": "XSASKISQDVDKEDEFGYSWSKLCFCDAFNCKRY", "length": 34, "header": "tr|H0YF96-1|H0YF96_HUMAN Computationally mapped isoform of Multiple PDZ domain crumbs cell polarity complex component OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=1 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13140045, "end_pos": 13139944, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542806.5", "url": "https://www.ensembl.org/id/ENST00000542806.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437651.1", "url": "https://www.ensembl.org/id/ENSP00000437651.1" } ] } }, { "isoform_ac": "H0YFZ6-1", "url": "", "sequence": { "sequence": "XQVAQVLRQCGNRVKLMLLLRKVKKVRHLM", "length": 30, "header": "tr|H0YFZ6-1|MPDZ_HUMAN Computationally mapped isoform of Multiple PDZ domain protein OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=1 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13219698, "end_pos": 13217248, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000494251.1", "url": "https://www.ensembl.org/id/ENST00000494251.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000441111.1", "url": "https://www.ensembl.org/id/ENSP00000441111.1" } ] } }, { "isoform_ac": "H0YGQ3-1", "url": "", "sequence": { "sequence": "VMLQNVSKESFERTINIAKGNSSLGMTVSANKDGLGMIVRSIIHGGAISRDGRIAIGDCILSINEESTISVTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVTLEVGRIKAGPFHSERRPSQSSQVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 1006, "header": "tr|H0YGQ3-1|MPDZ_HUMAN Computationally mapped isoform of Multiple PDZ domain protein OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=1 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13175824, "end_pos": 13106968, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545857.5", "url": "https://www.ensembl.org/id/ENST00000545857.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444230.1", "url": "https://www.ensembl.org/id/ENSP00000444230.1" } ] } }, { "isoform_ac": "H0YH70-1", "url": "", "sequence": { "sequence": "XMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEK", "length": 95, "header": "tr|H0YH70-1|H0YH70_HUMAN Computationally mapped isoform of Multiple PDZ domain crumbs cell polarity complex component OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=1 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13140070, "end_pos": 13136179, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535169.1", "url": "https://www.ensembl.org/id/ENST00000535169.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446298.1", "url": "https://www.ensembl.org/id/ENSP00000446298.1" } ] } }, { "isoform_ac": "H3BM19-1", "url": "", "sequence": { "sequence": "XFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILESVSHFCTGEWN", "length": 79, "header": "tr|H3BM19-1|H3BM19_HUMAN Computationally mapped isoform of Multiple PDZ domain crumbs cell polarity complex component OS=Homo sapiens OX=9606 GN=MPDZ PE=4 SV=1 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13123271, "end_pos": 13121921, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437441.2", "url": "https://www.ensembl.org/id/ENST00000437441.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000406902.2", "url": "https://www.ensembl.org/id/ENSP00000406902.2" } ] } }, { "isoform_ac": "O75970-1", "url": "", "sequence": { "sequence": "MLEAIDKNRALHAAERLQTKLRERGDVANEDKLSLLKSVLQSPLFSQILSLQTSVQQLKDQVNIATSATSNIEYAHVPHLSPAVIPTLQNESFLLSPNNGNLEALTGPGIPHINGKPACDEFDQLIKNMAQGRHVEVFELLKPPSGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQALDQTITHQQAISILQKAKDTVQLVIARGSLPQLVSPIVSRSPSAASTISAHSNPVHWQHMETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGDHILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAIEERTAPTALGITLSSSPTSTPELRVDASTQKGEESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDGRIQIGDQIIAVDGTNLQGFTNQQAVEVLRHTGQTVLLTLMRRGMKQEAELMSREDVTKDADLSPVNASIIKENYEKDEDFLSSTRNTNILPTEEEGYPLLSAEIEEIEDAQKQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELLEVNGITLLGENHQDVVNILKELPIEVTMVCCRRTVPPTTQSELDSLDLCDIELTEKPHVDLGEFIGSSETEDPVLAMTDAGQSTEEVQAPLAMWEAGIQHIELEKGSKGLGFSILDYQDPIDPASTVIIIRSLVPGGIAEKDGRLLPGDRLMFVNDVNLENSSLEEAVEALKGAPSGTVRIGVAKPLPLSPEEGYVSAKEDSFLYPPHSCEEAGLADKPLFRADLALVGTNDADLVDESTFESPYSPENDSIYSTQASILSLHGSSCGDGLNYGSSLPSSPPKDVIENSCDPVLDLHMSLEELYTQNLLQRQDENTPSVDISMGPASGFTINDYTPANAIEQQYECENTIVWTESHLPSEVISSAELPSVLPDSAGKGSEYLLEQSSLACNAECVMLQNVSKESFERTINIAKGNSSLGMTVSANKDGLGMIVRSIIHGGAISRDGRIAIGDCILSINEESTISVTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRKSPLPSLLHNLYPKYNFSSTNPFADSLQINADKAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVTLEVGRIKAGPFHSERRPSQSSQVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 2070, "header": "sp|O75970-1|MPDZ_HUMAN Isoform 1 of Multiple PDZ domain protein OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=2 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13250315, "end_pos": 13106968, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000319217.12", "url": "https://www.ensembl.org/id/ENST00000319217.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000320006.7", "url": "https://www.ensembl.org/id/ENSP00000320006.7" } ] } }, { "isoform_ac": "O75970-2", "url": "", "sequence": { "sequence": "MLEAIDKNRALHAAERLQTKLRERGDVANEDKLSLLKSVLQSPLFSQILSLQTSVQQLKDQVNIATSATSNIEYAHVPHLSPAVIPTLQNESFLLSPNNGNLEALTGPGIPHINGKPACDEFDQLIKNMAQGRHVEVFELLKPPSGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQALDQTITHQQAISILQKAKDTVQLVIARGSLPQLVSPIVSRSPSAASTISAHSNPVHWQHMETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGDHILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAIEERTAPTALGITLSSSPTSTPELRVDASTQKGEESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDGRIQIGDQIIAVDGTNLQGFTNQQAVEVLRHTGQTVLLTLMRRGMKQEAELMSREDVTKDADLSPVNASIIKENYEKDEDFLSSTRNTNILPTEEEGYPLLSAEIEEIEDAQKQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELLEVNGITLLGENHQDVVNILKELPIEVTMVCCRRTVPPTTQSELDSLDLCDIELTEKPHVDLGEFIGSSETEDPVLAMTDAGQSTEEVQAPLAMWEAGIQHIELEKGSKGLGFSILDYQDPIDPASTVIIIRSLVPGGIAEKDGRLLPGDRLMFVNDVNLENSSLEEAVEALKGAPSGTVRIGVAKPLPLSPEEGYVSAKEDSFLYPPHSCEEAGLADKPLFRADLALVGTNDADLVDESTFESPYSPENDSIYSTQASILSLHGSSCGDGLNYGSSLPSSPPKDVIENSCDPVLDLHMSLEELYTQNLLQRQDENTPSVDISMGPASGFTINDYTPANAIEQQYECENTIVWTESHLPSEVISSAELPSVLPDSAGKGSEYLLEQSSLACNAECVMLQNVSKESFERTINIAKGNSSLGMTVSANKDGLGMIVRSIIHGGAISRDGRIAIGDCILSINEESTISVTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRKSPLPSLLHNLYPKYNFSSTNPFADSLQINADKAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 2041, "header": "sp|O75970-2|MPDZ_HUMAN Isoform 2 of Multiple PDZ domain protein OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=2 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13250315, "end_pos": 13106968, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541718.5", "url": "https://www.ensembl.org/id/ENST00000541718.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439807.1", "url": "https://www.ensembl.org/id/ENSP00000439807.1" } ] } }, { "isoform_ac": "O75970-3", "url": "", "sequence": { "sequence": "MLEAIDKNRALHAAERLQTKLRERGDVANEDKLSLLKSVLQSPLFSQILSLQTSVQQLKDQVNIATSATSNIEYAHVPHLSPAVIPTLQNESFLLSPNNGNLEALTGPGIPHINGKPACDEFDQLIKNMAQGRHVEVFELLKPPSGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQALDQTITHQQAISILQKAKDTVQLVIARGSLPQLVSPIVSRSPSAASTISAHSNPVHWQHMETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGDHILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAIEERTAPTALGITLSSSPTSTPELRVDASTQKGEESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDGRIQIGDQIIAVDGTNLQGFTNQQAVEVLRHTGQTVLLTLMRRGMKQEAELMSREDVTKDADLSPVNASIIKENYEKDEDFLSSTRNTNILPTEEEGYPLLSAEIEEIEDAQKQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELLEVNGITLLGENHQDVVNILKELPIEVTMVCCRRTVPPTTQSELDSLDLCDIELTEKPHVDLGEFIGSSETEDPVLAMTDAGQSTEEVQAPLAMWEAGIQHIELEKGSKGLGFSILDYQDPIDPASTVIIIRSLVPGGIAEKDGRLLPGDRLMFVNDVNLENSSLEEAVEALKGAPSGTVRIGVAKPLPLSPEEGYVSAKEDSFLYPPHSCEEAGLADKPLFRADLALVGTNDADLVDESTFESPYSPENDSIYSTQASILSLHGSSCGDGLNYGSSLPSSPPKDVIENSCDPVLDLHMSLEELYTQNLLQRQDENTPSVDISMGPASGFTINDYTPANAIEQQYECENTIVWTESHLPSEVISSAELPSVLPDSAGKGSEYLLEQSSLACNAECVMLQNVSKESFERTINIAKGNSSLGMTVSANKDGLGMIVRSIIHGGAISRDGRIAIGDCILSINEESTISVTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVTLEVGRIKAGPFHSERRPSQSSQVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 2037, "header": "sp|O75970-3|MPDZ_HUMAN Isoform 3 of Multiple PDZ domain protein OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=2 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13250315, "end_pos": 13106968, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447879.6", "url": "https://www.ensembl.org/id/ENST00000447879.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000415208.1", "url": "https://www.ensembl.org/id/ENSP00000415208.1" } ] } }, { "isoform_ac": "O75970-5", "url": "", "sequence": { "sequence": "MLEAIDKNRALHAAERLQTKLRERGDVANEDKLSLLKSVLQSPLFSQILSLQTSVQQLKDQVNIATSATSNIEYAHVPHLSPAVIPTLQNESFLLSPNNGNLEALTGPGIPHINGKPACDEFDQLIKNMAQGRHVEVFELLKPPSGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQALDQTITHQQAISILQKAKDTVQLVIARGSLPQLVSPIVSRSPSAASTISAHSNPVHWQHMETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGDHILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAIEERTAPTALGITLSSSPTSTPELRVDASTQKGEESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDGRIQIGDQIIAVDGTNLQGFTNQQAVEVLRHTGQTVLLTLMRRGMKQEAELMSREDVTKDADLSPVNASIIKENYEKDEDFLSSTRNTNILPTEEEGYPLLSAEIEEIEDAQKQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELLEVNGITLLGENHQDVVNILKELPIEVTMVCCRRTVPPTTQSELDSLDLCDIELTEKPHVDLGEFIGSSETEDPVLAMTDAGQSTEEVQAPLAMWEAGIQHIELEKGSKGLGFSILDYQDPIDPASTVIIIRSLVPGGIAEKDGRLLPGDRLMFVNDVNLENSSLEEAVEALKGAPSGTVRIGVAKPLPLSPEEGYVSAKEDSFLYPPHSCEEAGLADKPLFRADLALVGTNDADLVDESTFESPYSPENDSIYSTQASILSLHGSSCGDGLNYGSSLPSSPPKDVIENSCDPVLDLHMSLEELYTQNLLQRQDENTPSVDISMGPASGFTINDYTPANAIEQQYECENTIVWTESHLPSEVISSAELPSVLPDSAGKGSEYLLEQSSLACNAECVMLQNVSKESFERTINIAKGNSSLGMTVSANKDGLGMIVRSIIHGGAISRDGRIAIGDCILSINEESTISVTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 2008, "header": "sp|O75970-5|MPDZ_HUMAN Isoform 5 of Multiple PDZ domain protein OS=Homo sapiens OX=9606 GN=MPDZ PE=1 SV=2 CANONICAL=O75970-1" }, "locus": { "chromosome": "9", "start_pos": 13250315, "end_pos": 13106968, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536827.5", "url": "https://www.ensembl.org/id/ENST00000536827.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444151.1", "url": "https://www.ensembl.org/id/ENSP00000444151.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75970", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75970" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 1078, "end_pos": 1078, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" } ], "site_lbl": "Ser1078" }, { "start_pos": 1818, "end_pos": 1818, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" } ], "site_lbl": "Ser1818" }, { "start_pos": 1824, "end_pos": 1824, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "site_lbl": "Ser1824" }, { "start_pos": 230, "end_pos": 230, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "phospho.ELM", "id": "O75970", "url": "http://phospho.elm.eu.org/byAccession/O75970.html" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Ser230" }, { "start_pos": 353, "end_pos": 353, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O75970", "url": "http://phospho.elm.eu.org/byAccession/O75970.html" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser353" }, { "start_pos": 354, "end_pos": 354, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O75970", "url": "http://phospho.elm.eu.org/byAccession/O75970.html" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser354" }, { "start_pos": 358, "end_pos": 358, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O75970", "url": "http://phospho.elm.eu.org/byAccession/O75970.html" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr358" }, { "start_pos": 483, "end_pos": 483, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "phospho.ELM", "id": "O75970", "url": "http://phospho.elm.eu.org/byAccession/O75970.html" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser483" }, { "start_pos": 790, "end_pos": 790, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" } ], "site_lbl": "Ser790" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Multi-PDZ domain protein MUPP1 is a cellular target for both adenovirus E4-ORF1 and high-risk papillomavirus type 18 E6 oncoproteins.", "journal": "J. Virol.", "date": "2000", "authors": "Lee S S, Glaunsinger B, Mantovani F, Banks L, Javier R T", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "reference": [ { "type": "PubMed", "id": "11000240", "url": "https://glygen.org/publication/PubMed/11000240" } ] }, { "title": "Interaction of serotonin 5-hydroxytryptamine type 2C receptors with PDZ10 of the multi-PDZ domain protein MUPP1.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Becamel C, Figge A, Poliak S, Dumuis A, Peles E, Bockaert J, Lubbert H, Ullmer C", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "reference": [ { "type": "PubMed", "id": "11150294", "url": "https://glygen.org/publication/PubMed/11150294" } ] }, { "title": "Evidence that the tandem-pleckstrin-homology-domain-containing protein TAPP1 interacts with Ptd(3,4)P2 and the multi-PDZ-domain-containing protein MUPP1 in vivo.", "journal": "Biochem. J.", "date": "2002", "authors": "Kimber WA, Trinkle-Mulcahy L, Cheung PC, Deak M, Marsden LJ, Kieloch A, Watt S, Javier RT, Gray A, Downes CP, Lucocq JM, Alessi DR", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "reference": [ { "type": "PubMed", "id": "11802782", "url": "https://glygen.org/publication/PubMed/11802782" } ] }, { "title": "SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.", "journal": "Neuron", "date": "2004", "authors": "Krapivinsky G, Medina I, Krapivinsky L, Gapon S, Clapham DE", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "reference": [ { "type": "PubMed", "id": "15312654", "url": "https://glygen.org/publication/PubMed/15312654" } ] }, { "title": "Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure.", "journal": "J. Cell Sci.", "date": "2004", "authors": "van de Pavert Serge A, Kantardzhieva Albena, Malysheva Anna, Meuleman Jan, Versteeg Inge, Levelt Christiaan, Klooster Jan, Geiger Sylvia, Seeliger Mathias W, Rashbass Penny, Le Bivic Andre, Wijnholds Jan", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "reference": [ { "type": "PubMed", "id": "15316081", "url": "https://glygen.org/publication/PubMed/15316081" } ] }, { "title": "The coxsackievirus and adenovirus receptor interacts with the multi-PDZ domain protein-1 (MUPP-1) within the tight junction.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Coyne Carolyn B, Voelker Tauni, Pichla Susan L, Bergelson Jeffrey M", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "reference": [ { "type": "PubMed", "id": "15364909", "url": "https://glygen.org/publication/PubMed/15364909" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Structure of PICK1 and other PDZ domains obtained with the help of self-binding C-terminal extensions.", "journal": "Protein Sci.", "date": "2007", "authors": "Elkins Jonathan M, Papagrigoriou Evangelos, Berridge Georgina, Yang Xiaowen, Phillips Claire, Gileadi Carina, Savitsky Pavel, Doyle Declan A", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "reference": [ { "type": "PubMed", "id": "17384233", "url": "https://glygen.org/publication/PubMed/17384233" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Mutation in MPDZ causes severe congenital hydrocephalus.", "journal": "Journal of medical genetics", "date": "2013", "authors": "Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "reference": [ { "type": "PubMed", "id": "23240096", "url": "https://glygen.org/publication/PubMed/23240096" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" }, { "database": "iPTMnet", "id": "O75970", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75970" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "The genetic landscape of familial congenital hydrocephalus.", "journal": "Annals of neurology", "date": "2017", "authors": "Shaheen R, Sebai MA, Patel N, Ewida N, Kurdi W, Altweijri I, Sogaty S, Almardawi E, Seidahmed MZ, Alnemri A, Madirevula S, Ibrahim N, Abdulwahab F, Hashem M, Al-Sheddi T, Alomar R, Alobeid E, Sallout B, AlBaqawi B, AlAali W, Ajaji N, Lesmana H, Hopkin RJ, Dupuis L, Mendoza-Londono R, Al Rukban H, Yoon G, Faqeih E, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "reference": [ { "type": "PubMed", "id": "28556411", "url": "https://glygen.org/publication/PubMed/28556411" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75970", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75970" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "MPDZ as a novel epigenetic silenced tumor suppressor inhibits growth and progression of lung cancer through the Hippo-YAP pathway.", "journal": "Oncogene", "date": "2021", "authors": "Liu W, Huang Y, Wang D, Han F, Chen H, Chen J, Jiang X, Cao J, Liu J", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" } ], "reference": [ { "type": "PubMed", "id": "34108620", "url": "https://glygen.org/publication/PubMed/34108620" } ] }, { "title": "ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.", "journal": "European journal of human genetics : EJHG", "date": "2022", "authors": "Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ, Nouel-Saied LM, Nasir A, Everard JL, Pollock LM, Zhu S, Bamshad MJ, Nickerson DA, Ali RH, Ullah A, Wali A, Ali G, Santos-Cortez RLP, Ahmed ZM, McDermott BM Jr, Ansar M, Riazuddin S, Ahmad W, Leal SM", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" } ], "reference": [ { "type": "PubMed", "id": "34135477", "url": "https://glygen.org/publication/PubMed/34135477" } ] }, { "title": "Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population.", "journal": "BMC ophthalmology", "date": "2022", "authors": "Yuan S, Li D, Ma M, Zhou L, Ma Z, Shi B, Zhang S, Li H, Sheng X, Liu J", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" } ], "reference": [ { "type": "PubMed", "id": "35305607", "url": "https://glygen.org/publication/PubMed/35305607" } ] }, { "title": "Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.", "journal": "Ophthalmic genetics", "date": "2023-01-03", "authors": "Iyengar Rahul, Deardorff Matthew, Schmidt Ryan, Nagiel Aaron", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" } ], "reference": [ { "type": "PubMed", "id": "36594712", "url": "https://glygen.org/publication/PubMed/36594712" } ] }, { "title": "MPDZ is associated with immune infiltration and regulates migration and invasion by switching YAP1 phosphorylation in colorectal cancer.", "journal": "Cellular signalling", "date": "2024-02", "authors": "Chen Zhuang, Ba Yuhao, Zhao Nannan, Dang Qin, Xu Hui, Weng Siyuan, Zhang Yuyuan, Liu Shutong, Zuo Anning, Han Xinwei, Liu Zaoqu", "evidence": [ { "database": "RefSeq", "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335" } ], "reference": [ { "type": "PubMed", "id": "37949382", "url": "https://glygen.org/publication/PubMed/37949382" } ] }, { "title": "Cloning and characterization of MUPP1, a novel PDZ domain protein.", "journal": "FEBS Lett.", "date": "1998", "authors": "Ullmer C, Schmuck K, Figge A, Lubbert H", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "reference": [ { "type": "PubMed", "id": "9537516", "url": "https://glygen.org/publication/PubMed/9537516" } ] } ], "pathway": [ { "id": "hsa:8777", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8777", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O55164-1", "protein_name": "Multiple PDZ domain protein", "gene_name": "Mpdz", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLETIDKNRALQAAERLQSKLKERGDVANEDKLSLLKSVLQSPLFSQILSLQTSLQQLKDQVNVATLATANADHAHTPQFSSAIISNLQSESLLLSPSNGNLEAISGPGAPPAMDGKPACEELDQLIKSMAQGRHVEIFELLKPPCGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQVLDQTITHQQAISILQKAKDTIQLVIARGSLPHISSPRISRSPSAASTVSAHSNPTHWQHVETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGDHILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAVEETPAPSSLGITLSSSTSTSEMRVDASTQKNEESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVELDGRIQIGDQIVAVDGTNLQGFTNQQAVEVLRHTGQTVRLTLMRKGASQEAEITSREDTAKDVDLPAENYEKDEESLSLKRSTSILPIEEEGYPLLSTELEETEDVQQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELLEVNGINLLGENHQDVVNILKELPIDVTMVCCRRTVPPTALSEVDSLDIHDLELTEKPHIDLGEFIGSSETEDPMLAMSDVDQNAEEIQTPLAMWEAGIQAIELEKGSRGLGFSILDYQDPIDPANTVIVIRSLVPGGIAEKDGRLFPGDRLMFVNDINLENSTLEEAVEALKGAPSGMVRIGVAKPLPLSPEEGYVSAKEDTFLCSPHTCKEMGLSDKALFRADLALIDTPDAESVAESRFESQFSPDNDSVYSTQASVLSLHDGACSDGMNYGPSLPSSPPKDVTNSSDLVLGLHLSLEELYTQNLLQRQHAGSPPTDMSPAATSGFTVSDYTPANAVEQKYECANTVAWTPSQLPSGLSTTELAPALPAVAPKYLTEQSSLVSDAESVTLQSMSQEAFERTVTIAKGSSSLGMTVSANKDGLGVIVRSIIHGGAISRDGRIAVGDCILSINEESTISLTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFRVSFGQQAGGIMALDIFSSYTGRDIPELPEREEGEGEESELQNAAYSSWSQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGSPVVFMVQSIVNRPRKSPLPSLPHSLYPKCSFSSTNPFAESLQLTSDKAPSQSESESEKATLCSVPSSSPSVFSEMSSDYAQPSATTVAEDEDKEDEFGYSWKNIQERYGTLTGQLHMIELEKGHSGLGLSLAGNKDRTRMSVFIVGIDPTGAAGRDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNADAVNQMAVCPGSAADPLPSTSESPQNKEVEPSITTSASAVDLSSLTNVYHLELPKDQGGLGIAICEEDTLNGVTIKSLTERGGAAKDGRLKPGDRILAVDDELVAGCPIEKFISLLKTAKTTVKLTVGAENPGCQAVPSAAVTASGERKDSSQTPAVPAPDLEPIPSTSRSSTPAIFASDPATCPIIPGCETTIEISKGQTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEDVCDTFTVELQKRPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVTLEVGRIKAAPFHSERRPSQSSQVSESSLSSFSLPRSGIHTSESSESSAKKNALASEIQGLRTVEIKKGPADALGLSIAGGVGSPLGDVPIFIAMMHPNGVAAQTQKLRVGDRIVTICGTSTDGMTHTQAVNLMKNASGSIEVQVVAGGDVSVVTGHQQELANPCLAFTGLTSSTIFPDDLGPPQSKTITLDRGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAAAEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 2054 }, "evidence": [ { "id": "45929678", "url": "http://www.informatics.jax.org/homology/45929678", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8VBX6-1", "protein_name": "Multiple PDZ domain protein", "gene_name": "Mpdz", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLETIDKNRALQAAERLQSKLKERGDVANEDKLSLLKSVLQSPLFSQILNLQTSLQQLKDQVNIATLATAAADHAHTPQFSSAVISNLQSESLLLSPNHGNLEALPGPGAPAVMDGKPTCDELDQLIKNMAQGRHVEIFELLKPPCGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQVLDQTITHQQAISILQKAKDTVQLVIARGSLPPVSSPRISRSPSAASTISAHSNPMHWQHVETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGDHILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAVEETPASSSLGITLSSSTSSTSEMRVDASTQKNDESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDGRIQIGDQIIAVDGTNLQGFTNQQAVEVLRHTGQTVRLTLMRKGASQEAELTSRGDTAKDVDLPAENCEKDEESLSLKRNTSILPIEEEGFPLLSAELEEAEDVQQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELLEVNGINLLGENHQDVVNILKELPIDVTMVCCRRTVPPIALSEMDSLDINDLELTEKPHIDLGEFIGSSETEDPMLAMSDVDQNAEEIQTPLAMWEAGGQSIELEKGSRGLGFSILDYQDPIDPANTVIVIRSLVPGGIAEKDGRLFPGDRLMFVNDINLENSTLEEAVEALKGAPSGMVRIGVAKPLPLSPEEGYVSAKEDAFLCSPHACKESGLSDKALFRADLALIDTPDAESIAESRFESQFSPDNDSVYSTQASIFSLHDGTCSDGMNYGPSLPSSPPKDVTSSSEVVLGLHLSLEELYTQNLLQRQHAGSPPTDMRPAPTSGFPISDYTTTNAVEQKYECANPVAWPHSQLPSSLSTSELAPALPAVAQKYLTDQSSLASDAESVNLQSMSQEAFERTVTIAKGSSSLGMTVSANKDGLGVIVRSIIHGGAISRDGRIAVGDCILSINEESTISLTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFRVSFGQQAGGIMALDIFSSYTGRDIPELPEREEGEGEESELQNAAYSSWSQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIIEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRKSPLPSLPHSLYPKYSFSSTNPFADSLQLTTDQAPSQSESETEKPALCNVPPSSPSVFSEMGSDCAQPSATAVSEDEDKEDEFGYSWKNIQERYGSLTGQLHVIELEKGQSGLGLSLAGNKDRTRMSVFIVGIDPTGAAGRDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNADAVNQMAVCPGIAADSPSSTSDSPQNKEVEPCSTTSASAADLSSLTDVYQLELPKDQGGLGIAICEEDTINGVMIESLTEHGGAAKDGRLKPGDHILAVDDEVVAGCPVEKFISLLKTAKATVKLTVRAENPACPAVPSSAVTVSGERKDNSQTPAVPAPDLEPIPSTSRSSTPAVFASDPATCPIIPGCETTIEISKGQTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEDVCDTFTIELQKRPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRHATQEAVAALLKCSLGAVTLEVGRVKAAPFHSERRPSQSSQVSESSLSSFTPPLSGINTSESLESNSKKNALASEIQGLRTVEIKKGPADSLGLSIAGGVGSPLGDVPIFIAMMHPNGVAAQTQKLRVGDRIVTICGTSTDGMTHTQAVNLMKNASGSIEVQVVAGGDVSVVTGHQQELANPCLAFTGLTSSSIFPDDLGPPQSKTITLDRGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAAAEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS", "length": 2055 }, "evidence": [ { "id": "45929678", "url": "http://www.informatics.jax.org/homology/45929678", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "tight junction assembly", "id": "GO:0120192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120192", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" }, { "name": "microtubule organizing center organization", "id": "GO:0031023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031023", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "O75970", "url": "https://www.uniprot.org/uniprot/O75970" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1015, "end_pos": 1017, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1199, "end_pos": 1201, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1263, "end_pos": 1265, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1413, "end_pos": 1415, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1583, "end_pos": 1585, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1603, "end_pos": 1605, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1745, "end_pos": 1747, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1782, "end_pos": 1784, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1935, "end_pos": 1937, "annotation": "n_glycosylation_sequon" }, { "start_pos": 486, "end_pos": 488, "annotation": "n_glycosylation_sequon" }, { "start_pos": 761, "end_pos": 763, "annotation": "n_glycosylation_sequon" }, { "start_pos": 849, "end_pos": 851, "annotation": "n_glycosylation_sequon" }, { "start_pos": 90, "end_pos": 92, "annotation": "n_glycosylation_sequon" }, { "start_pos": 999, "end_pos": 1001, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 503, 1781 ], "glycation_sites": [], "phosphorylation_sites": [ 230, 353, 354, 358, 483, 790, 1078, 1818, 1824 ], "sequon_annotation_sites": [ { "start_pos": 1015, "end_pos": 1017 }, { "start_pos": 1199, "end_pos": 1201 }, { "start_pos": 1263, "end_pos": 1265 }, { "start_pos": 1413, "end_pos": 1415 }, { "start_pos": 1583, "end_pos": 1585 }, { "start_pos": 1603, "end_pos": 1605 }, { "start_pos": 1745, "end_pos": 1747 }, { "start_pos": 1782, "end_pos": 1784 }, { "start_pos": 1935, "end_pos": 1937 }, { "start_pos": 486, "end_pos": 488 }, { "start_pos": 761, "end_pos": 763 }, { "start_pos": 849, "end_pos": 851 }, { "start_pos": 90, "end_pos": 92 }, { "start_pos": 999, "end_pos": 1001 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": 22 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }